Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1290
Gene name	Collagen type V alpha 2 chain
Gene symbol	COL5A2
Synonyms (NCBI Gene)	EDSCEDSCL2
Chromosome	2
Chromosome location	2q32.2
Summary	This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appea

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121912930	C>G	Pathogenic	Coding sequence variant, missense variant
rs139189200	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs139656817	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs140609193	T>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs140952583	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs145258293	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs145404046	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs147420365	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs151187317	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs199530997	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs367643805	T>A,C	Benign-likely-benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs369733690	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs372227642	A>G	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs376612765	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs549894501	T>C	Uncertain-significance, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs562950263	C>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs563606558	T>C	Likely-pathogenic, uncertain-significance	Missense variant, intron variant, initiator codon variant
rs747946828	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs770598613	C>G	Likely-pathogenic	Splice donor variant
rs770974455	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs786205103	GCTCCCT>-	Pathogenic	Splice acceptor variant, coding sequence variant
rs786205104	C>A	Pathogenic	Splice donor variant
rs863223491	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs863223501	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs878853978	C>T	Likely-pathogenic	Coding sequence variant, synonymous variant
rs886039694	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1040238147	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057524163	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1553512393	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553513657	C>T	Likely-pathogenic	Splice donor variant
rs1553513971	T>C	Pathogenic	Splice acceptor variant
rs1553514506	A>-	Pathogenic	Splice donor variant
rs1553514799	C>T	Likely-pathogenic	Intron variant
rs1553515517	T>C	Pathogenic	Intron variant
rs1553515794	C>T	Likely-pathogenic	Coding sequence variant, synonymous variant
rs1553517181	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553517323	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1559085564	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1559085578	G>C	Pathogenic	Intron variant
rs1559104199	C>A	Likely-pathogenic	Splice donor variant
rs1576502045	C>T	Likely-pathogenic	Splice donor variant
rs1576517517	C>A	Pathogenic	Intron variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT030666	hsa-miR-21-5p	Microarray	18591254
MIRT046753	hsa-miR-222-3p	CLASH	23622248
MIRT053646	hsa-miR-143-3p	Microarray	22942087
MIRT437545	hsa-miR-29a-3p	Luciferase reporter assay	22745231
MIRT437552	hsa-miR-29b-3p	Luciferase reporter assay	22745231
MIRT437558	hsa-miR-29c-3p	Luciferase reporter assay	22745231
MIRT437566	hsa-miR-767-5p	Luciferase reporter assay	22745231
MIRT437552	hsa-miR-29b-3p	qRT-PCR	25744716
MIRT437552	hsa-miR-29b-3p	qRT-PCR	25744716
MIRT734990	hsa-let-7e-3p	qRT-PCR	33066614
MIRT756330	hsa-miR-1286	Luciferase reporter assayWestern blottingqRT-PCR	34766472
MIRT903060	hsa-miR-1323	CLIP-seq
MIRT903061	hsa-miR-135a	CLIP-seq
MIRT903062	hsa-miR-135b	CLIP-seq
MIRT903063	hsa-miR-2276	CLIP-seq
MIRT903064	hsa-miR-2682	CLIP-seq
MIRT903065	hsa-miR-297	CLIP-seq
MIRT903066	hsa-miR-3122	CLIP-seq
MIRT903067	hsa-miR-3147	CLIP-seq
MIRT903068	hsa-miR-3149	CLIP-seq
MIRT903069	hsa-miR-323-5p	CLIP-seq
MIRT903070	hsa-miR-342-3p	CLIP-seq
MIRT903071	hsa-miR-34a	CLIP-seq
MIRT903072	hsa-miR-34c-5p	CLIP-seq
MIRT903073	hsa-miR-377	CLIP-seq
MIRT903074	hsa-miR-3913-5p	CLIP-seq
MIRT903075	hsa-miR-409-3p	CLIP-seq
MIRT903076	hsa-miR-4423-5p	CLIP-seq
MIRT903077	hsa-miR-4425	CLIP-seq
MIRT903078	hsa-miR-4477b	CLIP-seq
MIRT903079	hsa-miR-449a	CLIP-seq
MIRT903080	hsa-miR-449b	CLIP-seq
MIRT903081	hsa-miR-449c	CLIP-seq
MIRT903082	hsa-miR-450b-3p	CLIP-seq
MIRT903083	hsa-miR-4511	CLIP-seq
MIRT903084	hsa-miR-4639-5p	CLIP-seq
MIRT903085	hsa-miR-4643	CLIP-seq
MIRT903086	hsa-miR-4668-3p	CLIP-seq
MIRT903087	hsa-miR-4712-3p	CLIP-seq
MIRT903088	hsa-miR-4719	CLIP-seq
MIRT903089	hsa-miR-4772-3p	CLIP-seq
MIRT903090	hsa-miR-4781-3p	CLIP-seq
MIRT903091	hsa-miR-511	CLIP-seq
MIRT903092	hsa-miR-518a-5p	CLIP-seq
MIRT903093	hsa-miR-527	CLIP-seq
MIRT903094	hsa-miR-544	CLIP-seq
MIRT903095	hsa-miR-548b-3p	CLIP-seq
MIRT903096	hsa-miR-548o	CLIP-seq
MIRT903097	hsa-miR-586	CLIP-seq
MIRT903098	hsa-miR-590-3p	CLIP-seq
MIRT903099	hsa-miR-769-3p	CLIP-seq
MIRT1547214	hsa-miR-1245	CLIP-seq
MIRT1547215	hsa-miR-1266	CLIP-seq
MIRT756330	hsa-miR-1286	CLIP-seq
MIRT1547216	hsa-miR-132	CLIP-seq
MIRT1547217	hsa-miR-208a	CLIP-seq
MIRT1547218	hsa-miR-208b	CLIP-seq
MIRT1547219	hsa-miR-212	CLIP-seq
MIRT1547220	hsa-miR-29a	CLIP-seq
MIRT1547221	hsa-miR-29b	CLIP-seq
MIRT1547222	hsa-miR-29c	CLIP-seq
MIRT1547223	hsa-miR-300	CLIP-seq
MIRT1547224	hsa-miR-3148	CLIP-seq
MIRT1547225	hsa-miR-3157-5p	CLIP-seq
MIRT1547226	hsa-miR-3173-3p	CLIP-seq
MIRT1547227	hsa-miR-335	CLIP-seq
MIRT1547228	hsa-miR-3664-3p	CLIP-seq
MIRT1547229	hsa-miR-3667-5p	CLIP-seq
MIRT1547230	hsa-miR-3673	CLIP-seq
MIRT1547231	hsa-miR-3682-5p	CLIP-seq
MIRT1547232	hsa-miR-381	CLIP-seq
MIRT1547233	hsa-miR-4269	CLIP-seq
MIRT1547234	hsa-miR-4307	CLIP-seq
MIRT1547235	hsa-miR-432	CLIP-seq
MIRT1547236	hsa-miR-4428	CLIP-seq
MIRT1547237	hsa-miR-4518	CLIP-seq
MIRT1547238	hsa-miR-4645-5p	CLIP-seq
MIRT1547239	hsa-miR-4666-3p	CLIP-seq
MIRT1547240	hsa-miR-4673	CLIP-seq
MIRT1547241	hsa-miR-4681	CLIP-seq
MIRT1547242	hsa-miR-4691-3p	CLIP-seq
MIRT1547243	hsa-miR-4695-5p	CLIP-seq
MIRT1547244	hsa-miR-4722-5p	CLIP-seq
MIRT1547245	hsa-miR-4728-3p	CLIP-seq
MIRT1547246	hsa-miR-4755-3p	CLIP-seq
MIRT1547247	hsa-miR-499-5p	CLIP-seq
MIRT1547248	hsa-miR-5096	CLIP-seq
MIRT1547249	hsa-miR-513b	CLIP-seq
MIRT903098	hsa-miR-590-3p	CLIP-seq
MIRT1547250	hsa-miR-885-5p	CLIP-seq
MIRT1547216	hsa-miR-132	CLIP-seq
MIRT1547219	hsa-miR-212	CLIP-seq
MIRT1556193	hsa-miR-3942-3p	CLIP-seq
MIRT1547234	hsa-miR-4307	CLIP-seq
MIRT1547241	hsa-miR-4681	CLIP-seq
MIRT1967776	hsa-miR-1257	CLIP-seq
MIRT1547215	hsa-miR-1266	CLIP-seq
MIRT903061	hsa-miR-135a	CLIP-seq
MIRT903062	hsa-miR-135b	CLIP-seq
MIRT903065	hsa-miR-297	CLIP-seq
MIRT903066	hsa-miR-3122	CLIP-seq
MIRT903068	hsa-miR-3149	CLIP-seq
MIRT903069	hsa-miR-323-5p	CLIP-seq
MIRT1547227	hsa-miR-335	CLIP-seq
MIRT1967777	hsa-miR-3611	CLIP-seq
MIRT1547228	hsa-miR-3664-3p	CLIP-seq
MIRT1967778	hsa-miR-3907	CLIP-seq
MIRT903074	hsa-miR-3913-5p	CLIP-seq
MIRT1967779	hsa-miR-4289	CLIP-seq
MIRT1547237	hsa-miR-4518	CLIP-seq
MIRT1967780	hsa-miR-4790-3p	CLIP-seq
MIRT903091	hsa-miR-511	CLIP-seq
MIRT903097	hsa-miR-586	CLIP-seq
MIRT1967781	hsa-miR-616	CLIP-seq
MIRT1967782	hsa-miR-876-3p	CLIP-seq
MIRT2203612	hsa-miR-1272	CLIP-seq
MIRT756330	hsa-miR-1286	CLIP-seq
MIRT1547217	hsa-miR-208a	CLIP-seq
MIRT1547218	hsa-miR-208b	CLIP-seq
MIRT1547220	hsa-miR-29a	CLIP-seq
MIRT1547221	hsa-miR-29b	CLIP-seq
MIRT1547222	hsa-miR-29c	CLIP-seq
MIRT1547226	hsa-miR-3173-3p	CLIP-seq
MIRT1547229	hsa-miR-3667-5p	CLIP-seq
MIRT1547233	hsa-miR-4269	CLIP-seq
MIRT1547236	hsa-miR-4428	CLIP-seq
MIRT2203613	hsa-miR-4528	CLIP-seq
MIRT1547238	hsa-miR-4645-5p	CLIP-seq
MIRT2203614	hsa-miR-4659a-3p	CLIP-seq
MIRT2203615	hsa-miR-4659b-3p	CLIP-seq
MIRT1547240	hsa-miR-4673	CLIP-seq
MIRT1547243	hsa-miR-4695-5p	CLIP-seq
MIRT1547244	hsa-miR-4722-5p	CLIP-seq
MIRT1547246	hsa-miR-4755-3p	CLIP-seq
MIRT2203616	hsa-miR-4777-5p	CLIP-seq
MIRT1547247	hsa-miR-499-5p	CLIP-seq
MIRT2203617	hsa-miR-518d-5p	CLIP-seq
MIRT2203618	hsa-miR-519b-5p	CLIP-seq
MIRT2203619	hsa-miR-519c-5p	CLIP-seq
MIRT2203620	hsa-miR-520c-5p	CLIP-seq
MIRT2203621	hsa-miR-526a	CLIP-seq
MIRT2203622	hsa-miR-548c-3p	CLIP-seq
MIRT2427677	hsa-let-7a	CLIP-seq
MIRT2427678	hsa-let-7b	CLIP-seq
MIRT2427679	hsa-let-7c	CLIP-seq
MIRT2427680	hsa-let-7d	CLIP-seq
MIRT2427681	hsa-let-7e	CLIP-seq
MIRT2427682	hsa-let-7f	CLIP-seq
MIRT2427683	hsa-let-7g	CLIP-seq
MIRT2427684	hsa-let-7i	CLIP-seq
MIRT2427685	hsa-miR-1	CLIP-seq
MIRT2427686	hsa-miR-101	CLIP-seq
MIRT2427687	hsa-miR-105	CLIP-seq
MIRT2427688	hsa-miR-1179	CLIP-seq
MIRT2427689	hsa-miR-1184	CLIP-seq
MIRT2427690	hsa-miR-1193	CLIP-seq
MIRT1547214	hsa-miR-1245	CLIP-seq
MIRT2427691	hsa-miR-1252	CLIP-seq
MIRT1967776	hsa-miR-1257	CLIP-seq
MIRT1547215	hsa-miR-1266	CLIP-seq
MIRT756330	hsa-miR-1286	CLIP-seq
MIRT2427692	hsa-miR-129-3p	CLIP-seq
MIRT2427693	hsa-miR-1303	CLIP-seq
MIRT2427694	hsa-miR-1305	CLIP-seq
MIRT1547216	hsa-miR-132	CLIP-seq
MIRT903061	hsa-miR-135a	CLIP-seq
MIRT903062	hsa-miR-135b	CLIP-seq
MIRT2427695	hsa-miR-143	CLIP-seq
MIRT2427696	hsa-miR-144	CLIP-seq
MIRT2427697	hsa-miR-202	CLIP-seq
MIRT2427698	hsa-miR-206	CLIP-seq
MIRT1547217	hsa-miR-208a	CLIP-seq
MIRT1547218	hsa-miR-208b	CLIP-seq
MIRT1547219	hsa-miR-212	CLIP-seq
MIRT903063	hsa-miR-2276	CLIP-seq
MIRT2427699	hsa-miR-23a	CLIP-seq
MIRT2427700	hsa-miR-23b	CLIP-seq
MIRT2427701	hsa-miR-23c	CLIP-seq
MIRT2427702	hsa-miR-2467-3p	CLIP-seq
MIRT903065	hsa-miR-297	CLIP-seq
MIRT1547220	hsa-miR-29a	CLIP-seq
MIRT1547221	hsa-miR-29b	CLIP-seq
MIRT1547222	hsa-miR-29c	CLIP-seq
MIRT1547223	hsa-miR-300	CLIP-seq
MIRT2427703	hsa-miR-3065-5p	CLIP-seq
MIRT2427704	hsa-miR-3121-3p	CLIP-seq
MIRT903066	hsa-miR-3122	CLIP-seq
MIRT2427705	hsa-miR-3125	CLIP-seq
MIRT903067	hsa-miR-3147	CLIP-seq
MIRT1547224	hsa-miR-3148	CLIP-seq
MIRT903068	hsa-miR-3149	CLIP-seq
MIRT1547225	hsa-miR-3157-5p	CLIP-seq
MIRT2427706	hsa-miR-3168	CLIP-seq
MIRT1547226	hsa-miR-3173-3p	CLIP-seq
MIRT2427707	hsa-miR-3173-5p	CLIP-seq
MIRT2427708	hsa-miR-3180-5p	CLIP-seq
MIRT2427709	hsa-miR-3185	CLIP-seq
MIRT2427710	hsa-miR-3189-3p	CLIP-seq
MIRT2427711	hsa-miR-3190	CLIP-seq
MIRT903069	hsa-miR-323-5p	CLIP-seq
MIRT2427712	hsa-miR-330-3p	CLIP-seq
MIRT1547227	hsa-miR-335	CLIP-seq
MIRT2427713	hsa-miR-337-3p	CLIP-seq
MIRT2427714	hsa-miR-33a	CLIP-seq
MIRT2427715	hsa-miR-33b	CLIP-seq
MIRT1967777	hsa-miR-3611	CLIP-seq
MIRT2427716	hsa-miR-3613-5p	CLIP-seq
MIRT2427717	hsa-miR-3649	CLIP-seq
MIRT2427718	hsa-miR-3653	CLIP-seq
MIRT2427719	hsa-miR-3658	CLIP-seq
MIRT2427720	hsa-miR-3663-5p	CLIP-seq
MIRT1547228	hsa-miR-3664-3p	CLIP-seq
MIRT1547229	hsa-miR-3667-5p	CLIP-seq
MIRT1547230	hsa-miR-3673	CLIP-seq
MIRT2427721	hsa-miR-3678-3p	CLIP-seq
MIRT1547231	hsa-miR-3682-5p	CLIP-seq
MIRT2427722	hsa-miR-3685	CLIP-seq
MIRT2427723	hsa-miR-369-3p	CLIP-seq
MIRT1547232	hsa-miR-381	CLIP-seq
MIRT2427724	hsa-miR-382	CLIP-seq
MIRT2427725	hsa-miR-384	CLIP-seq
MIRT903074	hsa-miR-3913-5p	CLIP-seq
MIRT2427726	hsa-miR-3916	CLIP-seq
MIRT2427727	hsa-miR-3925-3p	CLIP-seq
MIRT2427728	hsa-miR-3926	CLIP-seq
MIRT2427729	hsa-miR-3928	CLIP-seq
MIRT1556193	hsa-miR-3942-3p	CLIP-seq
MIRT2427730	hsa-miR-3973	CLIP-seq
MIRT903075	hsa-miR-409-3p	CLIP-seq
MIRT2427731	hsa-miR-425	CLIP-seq
MIRT1547233	hsa-miR-4269	CLIP-seq
MIRT2427732	hsa-miR-4272	CLIP-seq
MIRT2427733	hsa-miR-4275	CLIP-seq
MIRT2427734	hsa-miR-4281	CLIP-seq
MIRT1967779	hsa-miR-4289	CLIP-seq
MIRT1547234	hsa-miR-4307	CLIP-seq
MIRT1547235	hsa-miR-432	CLIP-seq
MIRT2427735	hsa-miR-4328	CLIP-seq
MIRT2427736	hsa-miR-4418	CLIP-seq
MIRT2427737	hsa-miR-4422	CLIP-seq
MIRT903077	hsa-miR-4425	CLIP-seq
MIRT1547236	hsa-miR-4428	CLIP-seq
MIRT2427738	hsa-miR-4458	CLIP-seq
MIRT2427739	hsa-miR-4474-3p	CLIP-seq
MIRT2427740	hsa-miR-4476	CLIP-seq
MIRT903078	hsa-miR-4477b	CLIP-seq
MIRT2427741	hsa-miR-4491	CLIP-seq
MIRT2427742	hsa-miR-4500	CLIP-seq
MIRT903082	hsa-miR-450b-3p	CLIP-seq
MIRT2427743	hsa-miR-450b-5p	CLIP-seq
MIRT1547237	hsa-miR-4518	CLIP-seq
MIRT2427744	hsa-miR-4520a-3p	CLIP-seq
MIRT2427745	hsa-miR-4520b-3p	CLIP-seq
MIRT2203613	hsa-miR-4528	CLIP-seq
MIRT903084	hsa-miR-4639-5p	CLIP-seq
MIRT1547238	hsa-miR-4645-5p	CLIP-seq
MIRT2427746	hsa-miR-4657	CLIP-seq
MIRT2203614	hsa-miR-4659a-3p	CLIP-seq
MIRT2203615	hsa-miR-4659b-3p	CLIP-seq
MIRT1547239	hsa-miR-4666-3p	CLIP-seq
MIRT2427747	hsa-miR-4666-5p	CLIP-seq
MIRT903086	hsa-miR-4668-3p	CLIP-seq
MIRT1547240	hsa-miR-4673	CLIP-seq
MIRT1547241	hsa-miR-4681	CLIP-seq
MIRT2427748	hsa-miR-4687-5p	CLIP-seq
MIRT1547242	hsa-miR-4691-3p	CLIP-seq
MIRT1547243	hsa-miR-4695-5p	CLIP-seq
MIRT2427749	hsa-miR-4705	CLIP-seq
MIRT2427750	hsa-miR-4709-3p	CLIP-seq
MIRT903087	hsa-miR-4712-3p	CLIP-seq
MIRT903088	hsa-miR-4719	CLIP-seq
MIRT1547244	hsa-miR-4722-5p	CLIP-seq
MIRT1547245	hsa-miR-4728-3p	CLIP-seq
MIRT2427751	hsa-miR-4735-5p	CLIP-seq
MIRT2427752	hsa-miR-4753-5p	CLIP-seq
MIRT1547246	hsa-miR-4755-3p	CLIP-seq
MIRT2427753	hsa-miR-4756-3p	CLIP-seq
MIRT2427754	hsa-miR-4770	CLIP-seq
MIRT903089	hsa-miR-4772-3p	CLIP-seq
MIRT2427755	hsa-miR-4775	CLIP-seq
MIRT2203616	hsa-miR-4777-5p	CLIP-seq
MIRT2427756	hsa-miR-4778-3p	CLIP-seq
MIRT2427757	hsa-miR-4778-5p	CLIP-seq
MIRT903090	hsa-miR-4781-3p	CLIP-seq
MIRT1547247	hsa-miR-499-5p	CLIP-seq
MIRT2427758	hsa-miR-507	CLIP-seq
MIRT2427759	hsa-miR-508-3p	CLIP-seq
MIRT2427760	hsa-miR-509-3-5p	CLIP-seq
MIRT2427761	hsa-miR-509-5p	CLIP-seq
MIRT1547248	hsa-miR-5096	CLIP-seq
MIRT903091	hsa-miR-511	CLIP-seq
MIRT1547249	hsa-miR-513b	CLIP-seq
MIRT2427762	hsa-miR-517b	CLIP-seq
MIRT903092	hsa-miR-518a-5p	CLIP-seq
MIRT2203617	hsa-miR-518d-5p	CLIP-seq
MIRT2203618	hsa-miR-519b-5p	CLIP-seq
MIRT2203619	hsa-miR-519c-5p	CLIP-seq
MIRT2427763	hsa-miR-520a-5p	CLIP-seq
MIRT2203620	hsa-miR-520c-5p	CLIP-seq
MIRT2427764	hsa-miR-520d-5p	CLIP-seq
MIRT2427765	hsa-miR-520g	CLIP-seq
MIRT2427766	hsa-miR-520h	CLIP-seq
MIRT2427767	hsa-miR-522	CLIP-seq
MIRT2427768	hsa-miR-524-5p	CLIP-seq
MIRT2427769	hsa-miR-525-5p	CLIP-seq
MIRT2203621	hsa-miR-526a	CLIP-seq
MIRT903093	hsa-miR-527	CLIP-seq
MIRT2427770	hsa-miR-539	CLIP-seq
MIRT903094	hsa-miR-544	CLIP-seq
MIRT2427771	hsa-miR-548g	CLIP-seq
MIRT2427772	hsa-miR-548l	CLIP-seq
MIRT2427773	hsa-miR-548p	CLIP-seq
MIRT2427774	hsa-miR-557	CLIP-seq
MIRT2427775	hsa-miR-561	CLIP-seq
MIRT2427776	hsa-miR-578	CLIP-seq
MIRT2427777	hsa-miR-581	CLIP-seq
MIRT903097	hsa-miR-586	CLIP-seq
MIRT903098	hsa-miR-590-3p	CLIP-seq
MIRT2427778	hsa-miR-601	CLIP-seq
MIRT2427779	hsa-miR-613	CLIP-seq
MIRT1967781	hsa-miR-616	CLIP-seq
MIRT2427780	hsa-miR-7	CLIP-seq
MIRT2427781	hsa-miR-760	CLIP-seq
MIRT2427782	hsa-miR-766	CLIP-seq
MIRT903099	hsa-miR-769-3p	CLIP-seq
MIRT1547250	hsa-miR-885-5p	CLIP-seq
MIRT2427783	hsa-miR-944	CLIP-seq
MIRT2427784	hsa-miR-98	CLIP-seq
MIRT903098	hsa-miR-590-3p	CLIP-seq
MIRT2427677	hsa-let-7a	CLIP-seq
MIRT2427678	hsa-let-7b	CLIP-seq
MIRT2427679	hsa-let-7c	CLIP-seq
MIRT2427680	hsa-let-7d	CLIP-seq
MIRT2427681	hsa-let-7e	CLIP-seq
MIRT2427682	hsa-let-7f	CLIP-seq
MIRT2427683	hsa-let-7g	CLIP-seq
MIRT2427684	hsa-let-7i	CLIP-seq
MIRT1967776	hsa-miR-1257	CLIP-seq
MIRT1547215	hsa-miR-1266	CLIP-seq
MIRT2427692	hsa-miR-129-3p	CLIP-seq
MIRT1547216	hsa-miR-132	CLIP-seq
MIRT1547219	hsa-miR-212	CLIP-seq
MIRT2427699	hsa-miR-23a	CLIP-seq
MIRT2427700	hsa-miR-23b	CLIP-seq
MIRT2427701	hsa-miR-23c	CLIP-seq
MIRT1547220	hsa-miR-29a	CLIP-seq
MIRT1547221	hsa-miR-29b	CLIP-seq
MIRT1547222	hsa-miR-29c	CLIP-seq
MIRT2427705	hsa-miR-3125	CLIP-seq
MIRT903067	hsa-miR-3147	CLIP-seq
MIRT1547224	hsa-miR-3148	CLIP-seq
MIRT1547225	hsa-miR-3157-5p	CLIP-seq
MIRT2427707	hsa-miR-3173-5p	CLIP-seq
MIRT903069	hsa-miR-323-5p	CLIP-seq
MIRT1547227	hsa-miR-335	CLIP-seq
MIRT2427713	hsa-miR-337-3p	CLIP-seq
MIRT1967777	hsa-miR-3611	CLIP-seq
MIRT1547228	hsa-miR-3664-3p	CLIP-seq
MIRT1547230	hsa-miR-3673	CLIP-seq
MIRT1547231	hsa-miR-3682-5p	CLIP-seq
MIRT2427722	hsa-miR-3685	CLIP-seq
MIRT2427723	hsa-miR-369-3p	CLIP-seq
MIRT2427725	hsa-miR-384	CLIP-seq
MIRT1967778	hsa-miR-3907	CLIP-seq
MIRT2427726	hsa-miR-3916	CLIP-seq
MIRT2427727	hsa-miR-3925-3p	CLIP-seq
MIRT2427728	hsa-miR-3926	CLIP-seq
MIRT2427729	hsa-miR-3928	CLIP-seq
MIRT1556193	hsa-miR-3942-3p	CLIP-seq
MIRT2427730	hsa-miR-3973	CLIP-seq
MIRT903075	hsa-miR-409-3p	CLIP-seq
MIRT1967779	hsa-miR-4289	CLIP-seq
MIRT1547234	hsa-miR-4307	CLIP-seq
MIRT1547235	hsa-miR-432	CLIP-seq
MIRT2427735	hsa-miR-4328	CLIP-seq
MIRT903077	hsa-miR-4425	CLIP-seq
MIRT2427738	hsa-miR-4458	CLIP-seq
MIRT2427742	hsa-miR-4500	CLIP-seq
MIRT1547237	hsa-miR-4518	CLIP-seq
MIRT903084	hsa-miR-4639-5p	CLIP-seq
MIRT1547241	hsa-miR-4681	CLIP-seq
MIRT2427748	hsa-miR-4687-5p	CLIP-seq
MIRT1547242	hsa-miR-4691-3p	CLIP-seq
MIRT2427751	hsa-miR-4735-5p	CLIP-seq
MIRT2427752	hsa-miR-4753-5p	CLIP-seq
MIRT1547246	hsa-miR-4755-3p	CLIP-seq
MIRT2427755	hsa-miR-4775	CLIP-seq
MIRT2203616	hsa-miR-4777-5p	CLIP-seq
MIRT903090	hsa-miR-4781-3p	CLIP-seq
MIRT1967780	hsa-miR-4790-3p	CLIP-seq
MIRT1547248	hsa-miR-5096	CLIP-seq
MIRT1547249	hsa-miR-513b	CLIP-seq
MIRT2427762	hsa-miR-517b	CLIP-seq
MIRT2203617	hsa-miR-518d-5p	CLIP-seq
MIRT2203618	hsa-miR-519b-5p	CLIP-seq
MIRT2203619	hsa-miR-519c-5p	CLIP-seq
MIRT2203620	hsa-miR-520c-5p	CLIP-seq
MIRT2427765	hsa-miR-520g	CLIP-seq
MIRT2427766	hsa-miR-520h	CLIP-seq
MIRT2427767	hsa-miR-522	CLIP-seq
MIRT2203621	hsa-miR-526a	CLIP-seq
MIRT2427776	hsa-miR-578	CLIP-seq
MIRT2427777	hsa-miR-581	CLIP-seq
MIRT903098	hsa-miR-590-3p	CLIP-seq
MIRT2427778	hsa-miR-601	CLIP-seq
MIRT1967781	hsa-miR-616	CLIP-seq
MIRT2427782	hsa-miR-766	CLIP-seq
MIRT1967782	hsa-miR-876-3p	CLIP-seq
MIRT1547250	hsa-miR-885-5p	CLIP-seq
MIRT2427784	hsa-miR-98	CLIP-seq
MIRT2427685	hsa-miR-1	CLIP-seq
MIRT2427686	hsa-miR-101	CLIP-seq
MIRT2427687	hsa-miR-105	CLIP-seq
MIRT2427688	hsa-miR-1179	CLIP-seq
MIRT2427689	hsa-miR-1184	CLIP-seq
MIRT2506663	hsa-miR-1185	CLIP-seq
MIRT2427690	hsa-miR-1193	CLIP-seq
MIRT2506664	hsa-miR-1224-5p	CLIP-seq
MIRT2506665	hsa-miR-1238	CLIP-seq
MIRT1547214	hsa-miR-1245	CLIP-seq
MIRT2427694	hsa-miR-1305	CLIP-seq
MIRT1547216	hsa-miR-132	CLIP-seq
MIRT903061	hsa-miR-135a	CLIP-seq
MIRT903062	hsa-miR-135b	CLIP-seq
MIRT2427696	hsa-miR-144	CLIP-seq
MIRT2427698	hsa-miR-206	CLIP-seq
MIRT1547217	hsa-miR-208a	CLIP-seq
MIRT1547218	hsa-miR-208b	CLIP-seq
MIRT1547219	hsa-miR-212	CLIP-seq
MIRT903063	hsa-miR-2276	CLIP-seq
MIRT2427702	hsa-miR-2467-3p	CLIP-seq
MIRT903065	hsa-miR-297	CLIP-seq
MIRT1547220	hsa-miR-29a	CLIP-seq
MIRT1547221	hsa-miR-29b	CLIP-seq
MIRT1547222	hsa-miR-29c	CLIP-seq
MIRT2427703	hsa-miR-3065-5p	CLIP-seq
MIRT2427704	hsa-miR-3121-3p	CLIP-seq
MIRT903066	hsa-miR-3122	CLIP-seq
MIRT2427705	hsa-miR-3125	CLIP-seq
MIRT2506666	hsa-miR-3144-5p	CLIP-seq
MIRT903068	hsa-miR-3149	CLIP-seq
MIRT2427708	hsa-miR-3180-5p	CLIP-seq
MIRT2427709	hsa-miR-3185	CLIP-seq
MIRT903069	hsa-miR-323-5p	CLIP-seq
MIRT2427712	hsa-miR-330-3p	CLIP-seq
MIRT2506667	hsa-miR-3605-5p	CLIP-seq
MIRT2427716	hsa-miR-3613-5p	CLIP-seq
MIRT2506668	hsa-miR-3617	CLIP-seq
MIRT2427717	hsa-miR-3649	CLIP-seq
MIRT2427718	hsa-miR-3653	CLIP-seq
MIRT2427719	hsa-miR-3658	CLIP-seq
MIRT2427720	hsa-miR-3663-5p	CLIP-seq
MIRT1547230	hsa-miR-3673	CLIP-seq
MIRT2427721	hsa-miR-3678-3p	CLIP-seq
MIRT2506669	hsa-miR-3679-5p	CLIP-seq
MIRT2427724	hsa-miR-382	CLIP-seq
MIRT903074	hsa-miR-3913-5p	CLIP-seq
MIRT2506670	hsa-miR-3915	CLIP-seq
MIRT2427726	hsa-miR-3916	CLIP-seq
MIRT2427729	hsa-miR-3928	CLIP-seq
MIRT1556193	hsa-miR-3942-3p	CLIP-seq
MIRT2427731	hsa-miR-425	CLIP-seq
MIRT2506671	hsa-miR-4252	CLIP-seq
MIRT2427732	hsa-miR-4272	CLIP-seq
MIRT2427733	hsa-miR-4275	CLIP-seq
MIRT2506672	hsa-miR-4279	CLIP-seq
MIRT2427734	hsa-miR-4281	CLIP-seq
MIRT2506673	hsa-miR-4286	CLIP-seq
MIRT1967779	hsa-miR-4289	CLIP-seq
MIRT1547234	hsa-miR-4307	CLIP-seq
MIRT1547235	hsa-miR-432	CLIP-seq
MIRT2427735	hsa-miR-4328	CLIP-seq
MIRT2427736	hsa-miR-4418	CLIP-seq
MIRT2427737	hsa-miR-4422	CLIP-seq
MIRT2506674	hsa-miR-4427	CLIP-seq
MIRT2506675	hsa-miR-4457	CLIP-seq
MIRT2427739	hsa-miR-4474-3p	CLIP-seq
MIRT2506676	hsa-miR-4503	CLIP-seq
MIRT903082	hsa-miR-450b-3p	CLIP-seq
MIRT2427747	hsa-miR-4666-5p	CLIP-seq
MIRT903086	hsa-miR-4668-3p	CLIP-seq
MIRT1547241	hsa-miR-4681	CLIP-seq
MIRT2506677	hsa-miR-4689	CLIP-seq
MIRT2427749	hsa-miR-4705	CLIP-seq
MIRT2427750	hsa-miR-4709-3p	CLIP-seq
MIRT903087	hsa-miR-4712-3p	CLIP-seq
MIRT903088	hsa-miR-4719	CLIP-seq
MIRT2506678	hsa-miR-4722-3p	CLIP-seq
MIRT2506679	hsa-miR-4731-3p	CLIP-seq
MIRT2427751	hsa-miR-4735-5p	CLIP-seq
MIRT1547246	hsa-miR-4755-3p	CLIP-seq
MIRT2427753	hsa-miR-4756-3p	CLIP-seq
MIRT903089	hsa-miR-4772-3p	CLIP-seq
MIRT2427755	hsa-miR-4775	CLIP-seq
MIRT2506680	hsa-miR-4801	CLIP-seq
MIRT1547247	hsa-miR-499-5p	CLIP-seq
MIRT2427759	hsa-miR-508-3p	CLIP-seq
MIRT2427760	hsa-miR-509-3-5p	CLIP-seq
MIRT2427761	hsa-miR-509-5p	CLIP-seq
MIRT1547248	hsa-miR-5096	CLIP-seq
MIRT903091	hsa-miR-511	CLIP-seq
MIRT1547249	hsa-miR-513b	CLIP-seq
MIRT2427762	hsa-miR-517b	CLIP-seq
MIRT903092	hsa-miR-518a-5p	CLIP-seq
MIRT2427763	hsa-miR-520a-5p	CLIP-seq
MIRT2427764	hsa-miR-520d-5p	CLIP-seq
MIRT2427768	hsa-miR-524-5p	CLIP-seq
MIRT2427769	hsa-miR-525-5p	CLIP-seq
MIRT903093	hsa-miR-527	CLIP-seq
MIRT2427770	hsa-miR-539	CLIP-seq
MIRT903094	hsa-miR-544	CLIP-seq
MIRT2506681	hsa-miR-548a-3p	CLIP-seq
MIRT2203622	hsa-miR-548c-3p	CLIP-seq
MIRT2506682	hsa-miR-548e	CLIP-seq
MIRT2506683	hsa-miR-548f	CLIP-seq
MIRT2427771	hsa-miR-548g	CLIP-seq
MIRT2427773	hsa-miR-548p	CLIP-seq
MIRT903097	hsa-miR-586	CLIP-seq
MIRT2427778	hsa-miR-601	CLIP-seq
MIRT2427779	hsa-miR-613	CLIP-seq
MIRT1967781	hsa-miR-616	CLIP-seq
MIRT2506684	hsa-miR-641	CLIP-seq
MIRT2427781	hsa-miR-760	CLIP-seq
MIRT903099	hsa-miR-769-3p	CLIP-seq
MIRT2427685	hsa-miR-1	CLIP-seq
MIRT2427686	hsa-miR-101	CLIP-seq
MIRT2427687	hsa-miR-105	CLIP-seq
MIRT2427688	hsa-miR-1179	CLIP-seq
MIRT2427689	hsa-miR-1184	CLIP-seq
MIRT2506663	hsa-miR-1185	CLIP-seq
MIRT2427690	hsa-miR-1193	CLIP-seq
MIRT2506664	hsa-miR-1224-5p	CLIP-seq
MIRT2506665	hsa-miR-1238	CLIP-seq
MIRT1547214	hsa-miR-1245	CLIP-seq
MIRT2427694	hsa-miR-1305	CLIP-seq
MIRT1547216	hsa-miR-132	CLIP-seq
MIRT903061	hsa-miR-135a	CLIP-seq
MIRT903062	hsa-miR-135b	CLIP-seq
MIRT2427696	hsa-miR-144	CLIP-seq
MIRT2427698	hsa-miR-206	CLIP-seq
MIRT1547217	hsa-miR-208a	CLIP-seq
MIRT1547218	hsa-miR-208b	CLIP-seq
MIRT1547219	hsa-miR-212	CLIP-seq
MIRT903063	hsa-miR-2276	CLIP-seq
MIRT2427702	hsa-miR-2467-3p	CLIP-seq
MIRT903065	hsa-miR-297	CLIP-seq
MIRT1547220	hsa-miR-29a	CLIP-seq
MIRT1547221	hsa-miR-29b	CLIP-seq
MIRT1547222	hsa-miR-29c	CLIP-seq
MIRT2427703	hsa-miR-3065-5p	CLIP-seq
MIRT2427704	hsa-miR-3121-3p	CLIP-seq
MIRT903066	hsa-miR-3122	CLIP-seq
MIRT2427705	hsa-miR-3125	CLIP-seq
MIRT2506666	hsa-miR-3144-5p	CLIP-seq
MIRT903068	hsa-miR-3149	CLIP-seq
MIRT2427708	hsa-miR-3180-5p	CLIP-seq
MIRT2427709	hsa-miR-3185	CLIP-seq
MIRT903069	hsa-miR-323-5p	CLIP-seq
MIRT2427712	hsa-miR-330-3p	CLIP-seq
MIRT2506667	hsa-miR-3605-5p	CLIP-seq
MIRT2427716	hsa-miR-3613-5p	CLIP-seq
MIRT2506668	hsa-miR-3617	CLIP-seq
MIRT2427717	hsa-miR-3649	CLIP-seq
MIRT2427718	hsa-miR-3653	CLIP-seq
MIRT2427719	hsa-miR-3658	CLIP-seq
MIRT2427720	hsa-miR-3663-5p	CLIP-seq
MIRT1547230	hsa-miR-3673	CLIP-seq
MIRT2427721	hsa-miR-3678-3p	CLIP-seq
MIRT2506669	hsa-miR-3679-5p	CLIP-seq
MIRT2427724	hsa-miR-382	CLIP-seq
MIRT903074	hsa-miR-3913-5p	CLIP-seq
MIRT2506670	hsa-miR-3915	CLIP-seq
MIRT2427726	hsa-miR-3916	CLIP-seq
MIRT2427729	hsa-miR-3928	CLIP-seq
MIRT1556193	hsa-miR-3942-3p	CLIP-seq
MIRT2427731	hsa-miR-425	CLIP-seq
MIRT2506671	hsa-miR-4252	CLIP-seq
MIRT2427732	hsa-miR-4272	CLIP-seq
MIRT2427733	hsa-miR-4275	CLIP-seq
MIRT2506672	hsa-miR-4279	CLIP-seq
MIRT2427734	hsa-miR-4281	CLIP-seq
MIRT2506673	hsa-miR-4286	CLIP-seq
MIRT1967779	hsa-miR-4289	CLIP-seq
MIRT1547234	hsa-miR-4307	CLIP-seq
MIRT1547235	hsa-miR-432	CLIP-seq
MIRT2427735	hsa-miR-4328	CLIP-seq
MIRT2427736	hsa-miR-4418	CLIP-seq
MIRT2427737	hsa-miR-4422	CLIP-seq
MIRT2506674	hsa-miR-4427	CLIP-seq
MIRT2506675	hsa-miR-4457	CLIP-seq
MIRT2427739	hsa-miR-4474-3p	CLIP-seq
MIRT2506676	hsa-miR-4503	CLIP-seq
MIRT903082	hsa-miR-450b-3p	CLIP-seq
MIRT2427747	hsa-miR-4666-5p	CLIP-seq
MIRT903086	hsa-miR-4668-3p	CLIP-seq
MIRT1547241	hsa-miR-4681	CLIP-seq
MIRT2506677	hsa-miR-4689	CLIP-seq
MIRT2427749	hsa-miR-4705	CLIP-seq
MIRT2427750	hsa-miR-4709-3p	CLIP-seq
MIRT903087	hsa-miR-4712-3p	CLIP-seq
MIRT903088	hsa-miR-4719	CLIP-seq
MIRT2506678	hsa-miR-4722-3p	CLIP-seq
MIRT2506679	hsa-miR-4731-3p	CLIP-seq
MIRT2427751	hsa-miR-4735-5p	CLIP-seq
MIRT1547246	hsa-miR-4755-3p	CLIP-seq
MIRT2427753	hsa-miR-4756-3p	CLIP-seq
MIRT903089	hsa-miR-4772-3p	CLIP-seq
MIRT2427755	hsa-miR-4775	CLIP-seq
MIRT2203616	hsa-miR-4777-5p	CLIP-seq
MIRT2506680	hsa-miR-4801	CLIP-seq
MIRT1547247	hsa-miR-499-5p	CLIP-seq
MIRT2427759	hsa-miR-508-3p	CLIP-seq
MIRT2427760	hsa-miR-509-3-5p	CLIP-seq
MIRT2427761	hsa-miR-509-5p	CLIP-seq
MIRT1547248	hsa-miR-5096	CLIP-seq
MIRT903091	hsa-miR-511	CLIP-seq
MIRT1547249	hsa-miR-513b	CLIP-seq
MIRT2427762	hsa-miR-517b	CLIP-seq
MIRT903092	hsa-miR-518a-5p	CLIP-seq
MIRT2203617	hsa-miR-518d-5p	CLIP-seq
MIRT2203618	hsa-miR-519b-5p	CLIP-seq
MIRT2203619	hsa-miR-519c-5p	CLIP-seq
MIRT2427763	hsa-miR-520a-5p	CLIP-seq
MIRT2203620	hsa-miR-520c-5p	CLIP-seq
MIRT2427764	hsa-miR-520d-5p	CLIP-seq
MIRT2427768	hsa-miR-524-5p	CLIP-seq
MIRT2427769	hsa-miR-525-5p	CLIP-seq
MIRT2203621	hsa-miR-526a	CLIP-seq
MIRT903093	hsa-miR-527	CLIP-seq
MIRT2427770	hsa-miR-539	CLIP-seq
MIRT903094	hsa-miR-544	CLIP-seq
MIRT2506681	hsa-miR-548a-3p	CLIP-seq
MIRT2203622	hsa-miR-548c-3p	CLIP-seq
MIRT2506682	hsa-miR-548e	CLIP-seq
MIRT2506683	hsa-miR-548f	CLIP-seq
MIRT2427771	hsa-miR-548g	CLIP-seq
MIRT2427773	hsa-miR-548p	CLIP-seq
MIRT903097	hsa-miR-586	CLIP-seq
MIRT903098	hsa-miR-590-3p	CLIP-seq
MIRT2427778	hsa-miR-601	CLIP-seq
MIRT2427779	hsa-miR-613	CLIP-seq
MIRT1967781	hsa-miR-616	CLIP-seq
MIRT2506684	hsa-miR-641	CLIP-seq
MIRT2427781	hsa-miR-760	CLIP-seq
MIRT903099	hsa-miR-769-3p	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IEA
GO:0005201	Function	Extracellular matrix structural constituent	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005583	Component	Fibrillar collagen trimer	IEA
GO:0005588	Component	Collagen type V trimer	IBA
GO:0005588	Component	Collagen type V trimer	IMP	9425231, 9783710
GO:0005588	Component	Collagen type V trimer	NAS	37158802
GO:0005592	Component	Collagen type XI trimer	NAS	17876790
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	HDA	28344315
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	IBA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	25037231, 27068509, 27559042, 28327460, 28675934
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030199	Process	Collagen fibril organization	IMP	9425231
GO:0030199	Process	Collagen fibril organization	ISS
GO:0030199	Process	Collagen fibril organization	NAS	37158802
GO:0031012	Component	Extracellular matrix	HDA	25037231, 27068509, 27559042, 28327460, 28344315, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	NAS	17666000
GO:0043588	Process	Skin development	IBA
GO:0043588	Process	Skin development	IEA
GO:0043588	Process	Skin development	IMP	9425231
GO:0043588	Process	Skin development	ISS
GO:0046332	Function	SMAD binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0048592	Process	Eye morphogenesis	IMP	16431952
GO:0048731	Process	System development	IEA
GO:0071230	Process	Cellular response to amino acid stimulus	IEA
GO:1903225	Process	Negative regulation of endodermal cell differentiation	IDA	23154389

MIM	HGNC	e!Ensembl
120190	2210	ENSG00000204262

P05997

Protein name

Collagen alpha-2(V) chain

Protein function

Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin. Type

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00093	VWC	41 → 96	von Willebrand factor type C domain	Family
PF01391	Collagen	125 → 187	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	209 → 272	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	834 → 904	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1110 → 1180	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1170 → 1232	Collagen triple helix repeat (20 copies)	Repeat
PF01410	COLFI	1264 → 1498	Fibrillar collagen C-terminal domain	Family

Sequence

MMANWAEARPLLILIVLLGQFVSIKAQEEDEDEGYGEEIACTQNGQMYLNRDIWKPAPCQ
ICVCDNGAILCDKIECQDVLDCADPVTPPGECCPVCSQTPGGGNTNFGRGRKGQKGEPGL
VPVVTGIRGRPGPAGPPGSQGPRGERGPKGRPGPRGPQGIDGEPGVPGQPGAPGPPGHPS
HPGPDGLSRPFSAQMAGLDEKSGLGSQVGLMPGSVGPVGPRGPQGLQGQQGGAGPTGPPG
EPGDPGPMGPIGSRGPEGPPGKPGEDGEPGRNGNPGEVGFAGSPGARGFPGAPGLPGLKG
HRGHKGLEGPKGEVGAPGSKGEAGPTGPMGAMGPLGPRGMPGERGRLGPQGAPGQRGAHG
MPGKPGPMGPLGIPGSSGFPGNPGMKGEAGPTGARGPEGPQGQRGETGPPGPVGSPGLPG
AIGTDGTPGAKGPTGSPGTSGPPGSAGPPGSPGPQGSTGPQGIRGQPGDPGVPGFKGEAG
PKGEPGPHGIQGPIGPPGEEGKRGPRGDPGTVGPPGPVGERGAPGNRGFPGSDGLPGPKG
AQGERGPVGSSGPKGSQGDPGRPGEPGLPGARGLTGNPGVQGPEGKLGPLGAPGEDGRPG
PPGSIGIRGQPGSMGLPGPKGSSGDPGKPGEAGNAGVPGQRGAPGKDGEVGPSGPVGPPG
LAGERGEQGPPGPTGFQGLPGPPGPPGEGGKPGDQGVPGDPGAVGPLGPRGERGNPGERG
EPGITGLPGEKGMAGGHGPDGPKGSPGPSGTPGDTGPPGLQGMPGERGIAGTPGPKGDRG
GIGEKGAEGTAGNDGARGLPGPLGPPGPAGPTGEKGEPGPRGLVGPPGSRGNPGSRGENG
PTGAVGFAGPQGPDGQPGVKGEPGEPGQKGDAGSPGPQGLAGSPGPHGPNGVPGLKGGRG
TQGPPGATGFPGSAGRVGPPGPAGAPGPAGPLGEPGKEGPPGLRGDPGSHGRVGDRGPAG
PPGGPGDKGDPGEDGQPGPDGPPGPAGTTGQRGIVGMPGQRGERGMPGLPGPAGTPGKVG
PTGATGDKGPPGPVGPPGSNGPVGEPGPEGPAGNDGTPGRDGAVGERGDRGDPGPAGLPG
SQGAPGTPGPVGAPGDAGQRGDPGSRGPIGPPGRAGKRGLPGPQGPRGDKGDHGDRGDRG
QKGHRGFTGLQGLPGPPGPNGEQGSAGIPGPFGPRGPPGPVGPSGKEGNPGPLGPIGPPG
VRGSVGEAGPEGPPGEPGPPGPPGPPGHLTAALGDIMGHYDESMPDPLPEFTEDQAAPDD
KNKTDPGVHATLKSLSSQIETMRSPDGSKKHPARTCDDLKLCHSAKQSGEYWIDPNQGSV
EDAIKVYCNMETGETCISANPSSVPRKTWWASKSPDNKPVWYGLDMNRGSQFAYGDHQSP
NTAITQMTFLRLLSKEASQNITYICKNSVGYMDDQAKNLKKAVVLKGANDLDIKAEGNIR
FRYIVLQDTCSKRNGNVGKTVFEYRTQNVARLPIIDLAPVDVGGTDQEFGVEIGPVCFV

Sequence length

1499

Interactions

View interactions

	KEGG		Reactome
	Cytoskeleton in muscle cells Protein digestion and absorption		Collagen degradation Extracellular matrix organization Collagen biosynthesis and modifying enzymes Signaling by PDGF Assembly of collagen fibrils and other multimeric structures Integrin cell surface interactions Non-integrin membrane-ECM interactions ECM proteoglycans NCAM1 interactions MET activates PTK2 signaling Collagen chain trimerization

2568

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
COL5A2-related disorder	Likely pathogenic	rs2469306058	RCV003404181
Ehlers-Danlos syndrome	Likely pathogenic	rs2469261124	RCV003327323
Ehlers-Danlos syndrome, classic type	Pathogenic; Likely pathogenic	rs863223491, rs786205103, rs786205104, rs121912930, rs1553514506, rs1553512393, rs1553513971, rs1553515517, rs1685782021, rs1686209873	RCV000549387 RCV000018736 RCV000018737 RCV000018738 RCV000609676 RCV000615676 RCV000604241 RCV000610100 RCV001069869 RCV001071015
Ehlers-Danlos syndrome, classic type, 1	Pathogenic; Likely pathogenic	rs2105686869, rs2105632746, rs2105686874, rs2105579086, rs2469307907, rs1686383386, rs2469246822, rs863223491, rs2469314500, rs2469306279, rs2469294833, rs2469279533, rs2469259225, rs754843093, rs121912930 View all (8 more)	RCV001994802 RCV001993203 RCV001962944 RCV002040312 RCV002815538 RCV002833128 RCV002881027 RCV002229088 RCV003759775 RCV003594887 RCV003595499 RCV003593483 RCV003594555 RCV003760951 RCV002513108 RCV002233904 RCV002234439 RCV002232865 RCV002232817 RCV002234097 RCV002235055 RCV002234235 RCV002240565
Ehlers-Danlos syndrome, classic type, 2	Likely pathogenic; Pathogenic	rs1685785467, rs2105712615, rs2469263634, rs2469295166, rs2469321920, rs863223491, rs1685923198, rs786205104, rs2469314500, rs2153506167, rs2469239891, rs1553517323, rs1559104199, rs1685586746	RCV001329849 RCV001780832 RCV002306231 RCV002471616 RCV002512476 RCV006270354 RCV003128094 RCV003140607 RCV003143691 RCV003335942 RCV003389104 RCV002491344 RCV005870793 RCV001089657
Hyperextensible skin	Likely pathogenic; Pathogenic	rs1553517323	RCV000626682
Joint hypermobility	Likely pathogenic; Pathogenic	rs1553517323	RCV000626682
Keratoconus	Likely pathogenic	rs1559070958	RCV003324669
Neuropathic spinal arthropathy	Likely pathogenic; Pathogenic	rs1553517323	RCV000626682
Squamous cell lung carcinoma	Pathogenic	rs863223491	RCV005892429
Telecanthus	Likely pathogenic; Pathogenic	rs1553517323	RCV000626682

Show/Hide Unknown Diseases (32)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormal bleeding	Conflicting classifications of pathogenicity; Uncertain significance	rs140952583, rs747843876	RCV001270524 RCV001270557
Acute myeloid leukemia	Benign; Likely benign	rs11186	RCV005896016
Cardiovascular phenotype	Conflicting classifications of pathogenicity; Uncertain significance	rs772811492, rs372226064	RCV005404614 RCV000617223
Cervical cancer	Likely benign	rs375110673, rs760353505	RCV005912763 RCV005922885
Cholangiocarcinoma	Benign; Likely benign	rs117917418, rs11186, rs72904403	RCV005890661 RCV005896017 RCV005905701
Clear cell carcinoma of kidney	Uncertain significance	rs764961048	RCV005934859
Connective tissue disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs148229627, rs189970491, rs141571092, rs148430780, rs201720941, rs146100075, rs76511879, rs142044596, rs372227642, rs145404046, rs367643805, rs752658223, rs527433112, rs139229616, rs199802059 View all (15 more)	RCV000659471 RCV000659473 RCV000659477 RCV000659481 RCV000680514 RCV000659489 RCV000659467 RCV000659468 RCV000680518 RCV000659476 RCV000659486 RCV000680512 RCV000680511 RCV000659488 RCV000659485 RCV000659484 RCV000680515 RCV000659472 RCV000659483 RCV000659466 RCV000659479 RCV000659470 RCV000659482 RCV000659478 RCV000659475 RCV000659474 RCV000680513 RCV000680516 RCV000680517 RCV000680519
Disproportionate tall stature	Conflicting classifications of pathogenicity; Uncertain significance	rs367643805, rs869025375	RCV000143874 RCV001837759
Ehlers-Danlos syndrome type 7A	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs144344474, rs73978832, rs148786600, rs76148000, rs75486409, rs35830636, rs115570272, rs35852101, rs141571092, rs116298748, rs142429770, rs148430780, rs75542756, rs62184175, rs10197596 View all (91 more)	RCV000367223 RCV000314962 RCV000397176 RCV000345304 RCV000306768 RCV000376343 RCV000342810 RCV000372149 RCV000262410 RCV000369867 RCV000366430 RCV000309555 RCV000375987 RCV000361816 RCV000304627 RCV000401052 RCV000296109 RCV000394301 RCV000344819 RCV000390690 RCV000351535 RCV000289364 RCV000329201 RCV000301444 RCV000394141 RCV000268249 RCV000356760 RCV000325639 RCV000356709 RCV000306151 RCV000394275 RCV000299510 RCV000333952 RCV000294359 RCV000339968 RCV000396728 RCV000387034 RCV000285467 RCV000346350 RCV000397178 RCV000381437 RCV000293156 RCV000350396 RCV000386180 RCV000290624 RCV000335468 RCV000274975 RCV000378462 RCV000291902 RCV000355844 RCV000316020 RCV000348662 RCV000272947 RCV000382829 RCV000276698 RCV000299553 RCV000398711 RCV000302200 RCV000274486 RCV000320166 RCV000372603 RCV000283713 RCV000341040 RCV000396882 RCV000344406 RCV000314074 RCV000371023 RCV000312682 RCV000400222 RCV000354434 RCV000384643 RCV000308186 RCV000366279 RCV000308369 RCV000333040 RCV000278077 RCV000323827 RCV000396873 RCV000263484 RCV000266594 RCV000324123 RCV000327810 RCV000287444 RCV000264785 RCV000322006 RCV000365051 RCV000269622 RCV000330446 RCV000317167 RCV000360590 RCV000378070 RCV000354004 RCV000341892 RCV000271986 RCV000363020 RCV000277809 RCV000387588 RCV000376562 RCV000284343 RCV000337629 RCV000279171 RCV000396719 RCV000277708 RCV000319824 RCV000284272 RCV000259606 RCV000321056
Ehlers-Danlos syndrome, arthrochalasia type	Conflicting classifications of pathogenicity	rs150401168	RCV004546455
Familial aortopathy	Conflicting classifications of pathogenicity	rs144890303	RCV000714907
Familial cancer of breast	Likely benign; Benign	rs529927639, rs6414122	RCV005916440 RCV005891255
Familial pancreatic carcinoma	Benign; Likely benign	rs117917418, rs117085226	RCV005890658 RCV005890665
Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	rs545574407, rs374402209, rs780865605, rs1430667498, rs150063612, rs751683516, rs142224646, rs1685513453, rs200888890, rs2153506152, rs767144730, rs1685594948, rs202234821, rs148851552, rs375110673 View all (366 more)	RCV004609757 RCV003382522 RCV006376994 RCV002329311 RCV006391927 RCV004036630 RCV005802147 RCV005802174 RCV005533006 RCV004038164 RCV002368292 RCV004038088 RCV005318789 RCV003170017 RCV002368353 RCV004822394 RCV002350848 RCV002329574 RCV004822401 RCV005540449 RCV002456764 RCV003160972 RCV004822408 RCV003382620 RCV003382625 RCV002458545 RCV005533029 RCV002359196 RCV003163812 RCV004040066 RCV004611863 RCV003163842 RCV002388650 RCV005533039 RCV003382749 RCV002458666 RCV002324295 RCV003170111 RCV006367708 RCV002312854 RCV002311012 RCV002312855 RCV002312856 RCV002312857 RCV002310688 RCV002312858 RCV002312859 RCV002311013 RCV002312860 RCV002312861 RCV002312862 RCV002312863 RCV002312864 RCV002311014 RCV002310689 RCV002312865 RCV002312866 RCV002371960 RCV002312867 RCV002312868 RCV002312869 RCV005320941 RCV002406968 RCV004822981 RCV003170173 RCV004044794 RCV004822955 RCV002407393 RCV005321117 RCV005321107 RCV005804502 RCV002441293 RCV003303690 RCV002331688 RCV004046290 RCV004612137 RCV002310717 RCV000143874 RCV005535321 RCV003308091 RCV002313005 RCV000157150 RCV000157149 RCV000157148 RCV002348970 RCV002443355 RCV002459046 RCV002346717 RCV002355378 RCV002366218 RCV002333435 RCV002333707 RCV002337487 RCV002460233 RCV002457295 RCV002452469 RCV002332271 RCV002324860 RCV002455137 RCV002333146 RCV002330141 RCV002331935 RCV002333923 RCV002328437 RCV002328577 RCV002328625 RCV002419032 RCV002378925 RCV002376503 RCV002374072 RCV002367059 RCV002373921 RCV002387919 RCV002383322 RCV002387265 RCV002397083 RCV002399143 RCV002410106 RCV002401182 RCV002403106 RCV002401683 RCV002432908 RCV002426392 RCV002410566 RCV002448460 RCV002430900 RCV002410679 RCV002417303 RCV002425735 RCV002444073 RCV002444152 RCV002444224 RCV004823098 RCV005542923 RCV003161848 RCV003162050 RCV005537544 RCV005542961 RCV002444710 RCV002433779 RCV002321707 RCV005321185 RCV003308189 RCV002315568 RCV002311047 RCV002315567 RCV002327035 RCV002327034 RCV002315573 RCV002315572 RCV002315566 RCV002311045 RCV002321787 RCV002345700 RCV005801758 RCV002453715 RCV002315575 RCV004822005 RCV002315571 RCV002321788 RCV003298253 RCV002433876 RCV002433875 RCV004822004 RCV002310767 RCV002315565 RCV005801757 RCV002426930 RCV002310769 RCV002444790 RCV002310768 RCV004822003 RCV003167903 RCV004608160 RCV002390513 RCV002315570 RCV002399722 RCV002311044 RCV002315549 RCV002381665 RCV002336528 RCV002315574 RCV002399721 RCV002315576 RCV005540030 RCV002345701 RCV002444789 RCV004609327 RCV002453716 RCV002315569 RCV002336529 RCV002311046 RCV002311048 RCV000208086 RCV002336576 RCV002311066 RCV004822019 RCV002315684 RCV002433956 RCV002311067 RCV003187115 RCV003187116 RCV003187117 RCV003187118 RCV003171148 RCV003187119 RCV003187120 RCV003213758 RCV003213759 RCV003165687 RCV002313975 RCV002313976 RCV002311087 RCV002311196 RCV002311223 RCV002311230 RCV002311147 RCV002310906 RCV002311165 RCV002310975 RCV002311155 RCV002311103 RCV002379133 RCV003310688 RCV003310689 RCV003310691 RCV003310692 RCV003305725 RCV003305726 RCV003305727 RCV003305728 RCV002446531 RCV003339013 RCV003382073 RCV003382074 RCV003382075 RCV003382076 RCV003382077 RCV003382078 RCV003382079 RCV002450901 RCV005540056 RCV002314059 RCV005318375 RCV004822035 RCV002314060 RCV002348083 RCV004823162 RCV005806789 RCV005545048 RCV004614491 RCV004823191 RCV005545075 RCV006382135 RCV005323591 RCV006373093 RCV004525672 RCV004525673 RCV004525675 RCV004525676 RCV004525677 RCV004525678 RCV004525679 RCV004525680 RCV002436317 RCV004022522 RCV002313146 RCV004822047 RCV002314141 RCV002314140 RCV004822049 RCV002411314 RCV004822048 RCV002319497 RCV002436245 RCV004609384 RCV003380575 RCV004022683 RCV004022684 RCV002313164 RCV003168899 RCV005540080 RCV003168797 RCV005801795 RCV002446878 RCV004822070 RCV002313253 RCV004822069 RCV002413318 RCV002367640 RCV002313251 RCV002356798 RCV002395194 RCV002323870 RCV004023427 RCV002329236 RCV002314918 RCV002404341 RCV002314959 RCV002420392 RCV002350213 RCV004023818 RCV002323936 RCV002404399 RCV002456081 RCV002448652 RCV002456080 RCV002413654 RCV002420579 RCV004822121 RCV002331062 RCV003160108 RCV002315910 RCV002431812 RCV002413726 RCV002315906 RCV002438597 RCV003162746 RCV002315935 RCV000609436 RCV000604036 RCV002314295 RCV002314284 RCV002314179 RCV002314283 RCV002314281 RCV002314290 RCV002314288 RCV002314289 RCV002314273 RCV002314267 RCV002314293 RCV002314270 RCV002314277 RCV002314291 RCV002314271 RCV002314294 RCV002314280 RCV002314276 RCV002314272 RCV002314269 RCV002314268 RCV002314292 RCV002314286 RCV002314287 RCV002314279 RCV002314282 RCV002314285 RCV002314278 RCV002314274 RCV002314275 RCV004822133 RCV004609460 RCV003380650 RCV002325220 RCV002404763 RCV004609461 RCV002438677 RCV003380651 RCV005801843 RCV002458191 RCV002325393 RCV004609487 RCV002440499 RCV002388287 RCV005801861 RCV003166003 RCV005318515 RCV005318522 RCV004822233 RCV004822203 RCV004609524 RCV003307483 RCV005532755 RCV002397660 RCV002390719 RCV002453948 RCV005532784 RCV002336818 RCV002434082 RCV004027843 RCV004029769 RCV002332868 RCV004029455 RCV006367474 RCV003380787 RCV002320156 RCV003169382 RCV002434359 RCV003310690 RCV004030221 RCV004822306 RCV005801999 RCV002418507 RCV006362052 RCV004609636 RCV002348698 RCV002366027 RCV003163765 RCV004822337
Gastric cancer	Benign; Likely benign	rs55711740, rs117917418	RCV005917172 RCV005890660
Genetic developmental and epileptic encephalopathy	Benign; Likely benign	rs111586240	RCV005625592
Hepatocellular carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs117917418, rs117085226, rs539362640	RCV005890655 RCV005890663 RCV005913861
Loeys-Dietz syndrome	Uncertain significance	rs730880067	RCV000157151
Lung cancer	Benign; Likely benign	rs141571092, rs117917418, rs13421370	RCV005890654 RCV005890662 RCV005903926
Malignant tumor of esophagus	Benign; Likely benign	rs117917418, rs117085226	RCV005890656 RCV005890664
Marfan syndrome	Conflicting classifications of pathogenicity; Uncertain significance	rs200325397, rs863223502, rs767252151, rs146175905	RCV000157152 RCV000208065 RCV000208436 RCV000582800
Osteogenesis imperfecta type III	Uncertain significance	rs748999143	RCV000860018
Ovarian cancer	Benign; Likely benign	rs117917418	RCV005890657
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs117085226, rs75502372, rs72904403, rs13421370	RCV005890666 RCV005904222 RCV005905699 RCV005903925
Papillary renal cell carcinoma type 1	Benign; Likely benign	rs542134887	RCV005869215
Sarcoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs117917418, rs770598613, rs542134887, rs58624621, rs13421370	RCV005890659 RCV005892431 RCV005869216 RCV005904244 RCV005903924
See cases	not provided	rs2105603501	RCV001568405
Thrombocytopenia	Conflicting classifications of pathogenicity; Uncertain significance	rs140952583, rs747843876	RCV001270524 RCV001270557
Thymoma	Benign	rs72904403	RCV005905700
Thyroid cancer, nonmedullary, 1	Likely benign	rs765627984	RCV005926825
Uterine carcinosarcoma	Benign	rs55711740	RCV005917173
Uterine corpus endometrial carcinoma	Benign	rs13421370	RCV005903927

Show/Hide Text Mining Associations (65)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	27513329, 36452120
Adenocarcinoma of Lung	Associate	32819300, 34419075, 35238419
Aneurysm	Associate	26918470, 31538843
Aortic Dissection	Associate	20648054, 28855619
Arnold Chiari Malformation	Associate	33974636
Arthritis Rheumatoid	Associate	34766472
Autistic Disorder	Associate	35964930
Brain Neoplasms	Associate	31888563
Breast Neoplasms	Associate	34541602, 35741056
Buschke Ollendorff syndrome	Associate	22132895
Carcinogenesis	Associate	33035117
Carcinoma Pancreatic Ductal	Associate	31731384, 33221741
Carcinoma Squamous Cell	Associate	27164935
Cicatrix	Associate	31517854
Colonic Neoplasms	Associate	28742206, 31612481
Colorectal Neoplasms	Associate	31500382, 32356618
Connective Tissue Diseases	Associate	35964930
Constipation	Associate	35964930
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Associate	20648054
Diabetes Gestational	Associate	20617897
Diabetic Foot	Associate	35964930
Dissection Blood Vessel	Associate	22617347
Ehlers Danlos Syndrome	Associate	21611149, 31517854, 33161638
Ehlers Danlos syndrome type 1	Associate	20648054, 23587214, 30716086, 31517854, 32720758, 32736638, 33834621, 34946877
Ehlers Danlos syndrome type 2	Associate	9783710
Ehlers Danlos syndrome type 3	Associate	35964930
Endometrial Neoplasms	Associate	23167388
Esophageal Squamous Cell Carcinoma	Associate	36238478
Genetic Diseases Inborn	Associate	20648054
Hemochromatosis type 4	Associate	20648054
Hemorrhage	Associate	33161638, 35964930
Hemorrhagic Disorders	Associate	33161638
Hypertension Pulmonary	Associate	37731513
Hypoxia	Associate	29517678
Idiopathic Pulmonary Fibrosis	Associate	37798725
Intellectual Disability	Associate	35964930
Intervertebral Disc Degeneration	Associate	32873329
Intracranial Aneurysm	Associate	26918470
Kashin Beck Disease	Associate	22776318
Leiomyoma	Associate	28715450
Lymphatic Metastasis	Stimulate	31888563
Lymphatic Metastasis	Associate	37800754
Marden Walker syndrome	Associate	9783710
Mesothelioma	Associate	36901697
Mouth Neoplasms	Associate	36849997
Myocardial Infarction	Associate	29049183
Myostatin related muscle hypertrophy	Associate	20648054
Neoplasm Metastasis	Associate	33035117, 33607786
Neoplasms	Associate	29517678, 31888563, 33750326, 36447214, 37723519
Neoplasms	Stimulate	37800754
Non Muscle Invasive Bladder Neoplasms	Associate	33035117
Ovarian Neoplasms	Associate	25551281, 31969186
Pancreatic Neoplasms	Associate	31706267
Pheochromocytoma	Associate	33828526
Prostatic Neoplasms	Associate	37008945
Pulmonary Fibrosis	Associate	37731513
Scleroderma Diffuse	Associate	27111861
Scoliosis	Associate	33834621
Squamous Cell Carcinoma of Head and Neck	Associate	34999279
Stomach Neoplasms	Associate	28058586, 28078605, 28560594, 30948703, 32058995, 32908877, 33178362, 33607786, 34281542, 34899080, 35328635, 36447214, 37082997, 37312060, 37800754, 38041130 View all (1 more)
Stomach Neoplasms	Stimulate	33381592, 37723519, 38129820
Thyroid Cancer Papillary	Associate	28402931
Urinary Bladder Neoplasms	Associate	29517678, 33035117
Urinary Bladder Neoplasms	Stimulate	37988196
von Hippel Lindau Disease	Stimulate	33828526

COL5A2 (collagen type V alpha 2 chain)