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

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	1284
Gene name	Collagen type IV alpha 2 chain
Gene symbol	COL4A2
Synonyms (NCBI Gene)	BSVD2ICHPOREN2
Chromosome	13
Chromosome location	13q34
Summary	This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the

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SNP ID	Visualize variation	Clinical significance	Consequence
rs12877501	G>A,C	Likely-pathogenic, likely-benign	Missense variant, coding sequence variant
rs62621875	C>A	Risk-factor, benign, likely-benign	Missense variant, coding sequence variant
rs117412802	A>G	Likely-benign, risk-factor, benign	Missense variant, coding sequence variant
rs201105747	G>A,T	Risk-factor, likely-benign, benign	Coding sequence variant, missense variant
rs387906602	G>A	Pathogenic	Coding sequence variant, missense variant
rs387906603	G>A	Pathogenic	Coding sequence variant, missense variant
rs776550709	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs969435078	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057519090	G>A	Pathogenic	Coding sequence variant, missense variant
rs1057523764	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1064797180	G>A	Likely-pathogenic	Splice acceptor variant
rs1085307983	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555331796	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1566525717	G>C	Pathogenic	Splice acceptor variant
rs1594088780	G>A	Likely-pathogenic	Coding sequence variant, missense variant

275

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miRTarBase ID	miRNA	Experiments	Reference
MIRT001926	hsa-miR-29c-3p	Luciferase reporter assay	18390668
MIRT001926	hsa-miR-29c-3p	Luciferase reporter assay	18390668
MIRT001926	hsa-miR-29c-3p	Luciferase reporter assay	18390668
MIRT001926	hsa-miR-29c-3p	Luciferase reporter assay	18390668
MIRT001926	hsa-miR-29c-3p	Luciferase reporter assay	18390668
MIRT003220	hsa-miR-29a-3p	Luciferase reporter assayqRT-PCRWestern blot	20067797
MIRT003220	hsa-miR-29a-3p	Luciferase reporter assayqRT-PCRWestern blot	20067797
MIRT003220	hsa-miR-29a-3p	qRT-PCR	22864815
MIRT001926	hsa-miR-29c-3p	Reporter assay;Other	18390668
MIRT020729	hsa-miR-155-5p	Proteomics	18668040
MIRT029546	hsa-miR-26b-5p	Microarray	19088304
MIRT051129	hsa-miR-16-5p	CLASH	23622248
MIRT049302	hsa-miR-92a-3p	CLASH	23622248
MIRT047706	hsa-miR-10a-5p	CLASH	23622248
MIRT040463	hsa-miR-615-3p	CLASH	23622248
MIRT054207	hsa-miR-210-3p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	23028679
MIRT054216	hsa-miR-147b	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	23028679
MIRT003220	hsa-miR-29a-3p	Luciferase reporter assay	22745231
MIRT000099	hsa-miR-29b-3p	Luciferase reporter assay	22745231
MIRT001926	hsa-miR-29c-3p	Luciferase reporter assay	22745231
MIRT437565	hsa-miR-767-5p	Luciferase reporter assay	22745231
MIRT003220	hsa-miR-29a-3p	Western blotLuciferase reporter assayImmunofluorescence	25241894
MIRT000099	hsa-miR-29b-3p	qRT-PCR	25744716
MIRT732961	hsa-miR-1260a	ImmunofluorescenceImmunohistochemistry (IHC)RNA-seqqRT-PCRWestern blotting	34256779
MIRT733035	hsa-miR-122-5p	RNA-seq	33407671
MIRT054207	hsa-miR-210-3p	MicroarrayqRT-PCR	35816043
MIRT902800	hsa-miR-3144-5p	CLIP-seq
MIRT902801	hsa-miR-3151	CLIP-seq
MIRT902802	hsa-miR-3191	CLIP-seq
MIRT902803	hsa-miR-34a	CLIP-seq
MIRT902804	hsa-miR-34c-5p	CLIP-seq
MIRT902805	hsa-miR-3937	CLIP-seq
MIRT902806	hsa-miR-4297	CLIP-seq
MIRT902807	hsa-miR-449a	CLIP-seq
MIRT902808	hsa-miR-449b	CLIP-seq
MIRT902809	hsa-miR-4652-5p	CLIP-seq
MIRT902810	hsa-miR-4690-5p	CLIP-seq
MIRT902811	hsa-miR-4746-3p	CLIP-seq
MIRT902812	hsa-miR-486-3p	CLIP-seq
MIRT902813	hsa-miR-491-5p	CLIP-seq
MIRT1547051	hsa-let-7a	CLIP-seq
MIRT1547052	hsa-let-7b	CLIP-seq
MIRT1547053	hsa-let-7c	CLIP-seq
MIRT1547054	hsa-let-7d	CLIP-seq
MIRT1547055	hsa-let-7e	CLIP-seq
MIRT1547056	hsa-let-7f	CLIP-seq
MIRT1547057	hsa-let-7g	CLIP-seq
MIRT1547058	hsa-let-7i	CLIP-seq
MIRT1547059	hsa-miR-106a	CLIP-seq
MIRT1547060	hsa-miR-106b	CLIP-seq
MIRT1547061	hsa-miR-1231	CLIP-seq
MIRT1547062	hsa-miR-1256	CLIP-seq
MIRT1547063	hsa-miR-1266	CLIP-seq
MIRT1547064	hsa-miR-140-5p	CLIP-seq
MIRT1547065	hsa-miR-17	CLIP-seq
MIRT1547066	hsa-miR-202	CLIP-seq
MIRT1547067	hsa-miR-20a	CLIP-seq
MIRT1547068	hsa-miR-20b	CLIP-seq
MIRT1547069	hsa-miR-216a	CLIP-seq
MIRT1547070	hsa-miR-219-1-3p	CLIP-seq
MIRT1547071	hsa-miR-29a	CLIP-seq
MIRT1547072	hsa-miR-29b	CLIP-seq
MIRT1547073	hsa-miR-29c	CLIP-seq
MIRT1547074	hsa-miR-361-3p	CLIP-seq
MIRT1547075	hsa-miR-3622a-3p	CLIP-seq
MIRT1547076	hsa-miR-3622b-3p	CLIP-seq
MIRT1547077	hsa-miR-3650	CLIP-seq
MIRT1547078	hsa-miR-3653	CLIP-seq
MIRT1547079	hsa-miR-3658	CLIP-seq
MIRT1547080	hsa-miR-3664-3p	CLIP-seq
MIRT1547081	hsa-miR-3674	CLIP-seq
MIRT1547082	hsa-miR-3688-5p	CLIP-seq
MIRT902805	hsa-miR-3937	CLIP-seq
MIRT1547083	hsa-miR-3941	CLIP-seq
MIRT1547084	hsa-miR-3978	CLIP-seq
MIRT1547085	hsa-miR-409-5p	CLIP-seq
MIRT1547086	hsa-miR-4270	CLIP-seq
MIRT1547087	hsa-miR-4288	CLIP-seq
MIRT902806	hsa-miR-4297	CLIP-seq
MIRT1547088	hsa-miR-4441	CLIP-seq
MIRT1547089	hsa-miR-4446-3p	CLIP-seq
MIRT1547090	hsa-miR-4455	CLIP-seq
MIRT1547091	hsa-miR-4458	CLIP-seq
MIRT1547092	hsa-miR-4459	CLIP-seq
MIRT1547093	hsa-miR-4500	CLIP-seq
MIRT1547094	hsa-miR-4518	CLIP-seq
MIRT1547095	hsa-miR-4519	CLIP-seq
MIRT1547096	hsa-miR-4530	CLIP-seq
MIRT1547097	hsa-miR-4656	CLIP-seq
MIRT1547098	hsa-miR-466	CLIP-seq
MIRT1547099	hsa-miR-4666-5p	CLIP-seq
MIRT1547100	hsa-miR-4672	CLIP-seq
MIRT902810	hsa-miR-4690-5p	CLIP-seq
MIRT902811	hsa-miR-4746-3p	CLIP-seq
MIRT1547101	hsa-miR-4779	CLIP-seq
MIRT1547102	hsa-miR-4795-5p	CLIP-seq
MIRT1547103	hsa-miR-4802-3p	CLIP-seq
MIRT902812	hsa-miR-486-3p	CLIP-seq
MIRT1547104	hsa-miR-519a	CLIP-seq
MIRT1547105	hsa-miR-519b-3p	CLIP-seq
MIRT1547106	hsa-miR-519c-3p	CLIP-seq
MIRT1547107	hsa-miR-519d	CLIP-seq
MIRT1547108	hsa-miR-544b	CLIP-seq
MIRT1547109	hsa-miR-550a	CLIP-seq
MIRT1547110	hsa-miR-571	CLIP-seq
MIRT1547111	hsa-miR-632	CLIP-seq
MIRT1547112	hsa-miR-93	CLIP-seq
MIRT1547113	hsa-miR-98	CLIP-seq
MIRT1967736	hsa-miR-4640-5p	CLIP-seq
MIRT1967737	hsa-miR-4726-5p	CLIP-seq
MIRT902812	hsa-miR-486-3p	CLIP-seq
MIRT1547051	hsa-let-7a	CLIP-seq
MIRT1547052	hsa-let-7b	CLIP-seq
MIRT1547053	hsa-let-7c	CLIP-seq
MIRT1547054	hsa-let-7d	CLIP-seq
MIRT1547055	hsa-let-7e	CLIP-seq
MIRT1547056	hsa-let-7f	CLIP-seq
MIRT1547057	hsa-let-7g	CLIP-seq
MIRT1547058	hsa-let-7i	CLIP-seq
MIRT1547064	hsa-miR-140-5p	CLIP-seq
MIRT1547066	hsa-miR-202	CLIP-seq
MIRT2203561	hsa-miR-3122	CLIP-seq
MIRT2203562	hsa-miR-3143	CLIP-seq
MIRT902800	hsa-miR-3144-5p	CLIP-seq
MIRT902801	hsa-miR-3151	CLIP-seq
MIRT902802	hsa-miR-3191	CLIP-seq
MIRT902803	hsa-miR-34a	CLIP-seq
MIRT902804	hsa-miR-34c-5p	CLIP-seq
MIRT1547075	hsa-miR-3622a-3p	CLIP-seq
MIRT1547076	hsa-miR-3622b-3p	CLIP-seq
MIRT1547077	hsa-miR-3650	CLIP-seq
MIRT1547078	hsa-miR-3653	CLIP-seq
MIRT1547079	hsa-miR-3658	CLIP-seq
MIRT1547081	hsa-miR-3674	CLIP-seq
MIRT2203563	hsa-miR-3913-5p	CLIP-seq
MIRT1547083	hsa-miR-3941	CLIP-seq
MIRT1547085	hsa-miR-409-5p	CLIP-seq
MIRT1547090	hsa-miR-4455	CLIP-seq
MIRT1547091	hsa-miR-4458	CLIP-seq
MIRT1547092	hsa-miR-4459	CLIP-seq
MIRT2203564	hsa-miR-4487	CLIP-seq
MIRT902807	hsa-miR-449a	CLIP-seq
MIRT902808	hsa-miR-449b	CLIP-seq
MIRT1547093	hsa-miR-4500	CLIP-seq
MIRT2203565	hsa-miR-4633-3p	CLIP-seq
MIRT902809	hsa-miR-4652-5p	CLIP-seq
MIRT1547098	hsa-miR-466	CLIP-seq
MIRT1547099	hsa-miR-4666-5p	CLIP-seq
MIRT1547100	hsa-miR-4672	CLIP-seq
MIRT2203566	hsa-miR-4720-5p	CLIP-seq
MIRT1547101	hsa-miR-4779	CLIP-seq
MIRT2203567	hsa-miR-4799-3p	CLIP-seq
MIRT1547103	hsa-miR-4802-3p	CLIP-seq
MIRT902812	hsa-miR-486-3p	CLIP-seq
MIRT902813	hsa-miR-491-5p	CLIP-seq
MIRT2203568	hsa-miR-543	CLIP-seq
MIRT1547108	hsa-miR-544b	CLIP-seq
MIRT2203569	hsa-miR-609	CLIP-seq
MIRT1547113	hsa-miR-98	CLIP-seq
MIRT902805	hsa-miR-3937	CLIP-seq
MIRT902806	hsa-miR-4297	CLIP-seq
MIRT902810	hsa-miR-4690-5p	CLIP-seq
MIRT902811	hsa-miR-4746-3p	CLIP-seq
MIRT1547109	hsa-miR-550a	CLIP-seq
MIRT1547051	hsa-let-7a	CLIP-seq
MIRT1547052	hsa-let-7b	CLIP-seq
MIRT1547053	hsa-let-7c	CLIP-seq
MIRT1547054	hsa-let-7d	CLIP-seq
MIRT1547055	hsa-let-7e	CLIP-seq
MIRT1547056	hsa-let-7f	CLIP-seq
MIRT1547057	hsa-let-7g	CLIP-seq
MIRT1547058	hsa-let-7i	CLIP-seq
MIRT1547059	hsa-miR-106a	CLIP-seq
MIRT1547060	hsa-miR-106b	CLIP-seq
MIRT1547061	hsa-miR-1231	CLIP-seq
MIRT1547062	hsa-miR-1256	CLIP-seq
MIRT1547064	hsa-miR-140-5p	CLIP-seq
MIRT1547065	hsa-miR-17	CLIP-seq
MIRT1547066	hsa-miR-202	CLIP-seq
MIRT1547067	hsa-miR-20a	CLIP-seq
MIRT1547068	hsa-miR-20b	CLIP-seq
MIRT1547074	hsa-miR-361-3p	CLIP-seq
MIRT1547075	hsa-miR-3622a-3p	CLIP-seq
MIRT1547076	hsa-miR-3622b-3p	CLIP-seq
MIRT1547077	hsa-miR-3650	CLIP-seq
MIRT1547078	hsa-miR-3653	CLIP-seq
MIRT1547079	hsa-miR-3658	CLIP-seq
MIRT1547081	hsa-miR-3674	CLIP-seq
MIRT1547082	hsa-miR-3688-5p	CLIP-seq
MIRT902805	hsa-miR-3937	CLIP-seq
MIRT1547083	hsa-miR-3941	CLIP-seq
MIRT1547084	hsa-miR-3978	CLIP-seq
MIRT1547085	hsa-miR-409-5p	CLIP-seq
MIRT1547087	hsa-miR-4288	CLIP-seq
MIRT902806	hsa-miR-4297	CLIP-seq
MIRT1547090	hsa-miR-4455	CLIP-seq
MIRT1547091	hsa-miR-4458	CLIP-seq
MIRT1547092	hsa-miR-4459	CLIP-seq
MIRT1547093	hsa-miR-4500	CLIP-seq
MIRT1547095	hsa-miR-4519	CLIP-seq
MIRT1547096	hsa-miR-4530	CLIP-seq
MIRT1547098	hsa-miR-466	CLIP-seq
MIRT1547099	hsa-miR-4666-5p	CLIP-seq
MIRT1547100	hsa-miR-4672	CLIP-seq
MIRT902811	hsa-miR-4746-3p	CLIP-seq
MIRT1547101	hsa-miR-4779	CLIP-seq
MIRT1547102	hsa-miR-4795-5p	CLIP-seq
MIRT1547103	hsa-miR-4802-3p	CLIP-seq
MIRT902812	hsa-miR-486-3p	CLIP-seq
MIRT1547104	hsa-miR-519a	CLIP-seq
MIRT1547105	hsa-miR-519b-3p	CLIP-seq
MIRT1547106	hsa-miR-519c-3p	CLIP-seq
MIRT1547107	hsa-miR-519d	CLIP-seq
MIRT1547108	hsa-miR-544b	CLIP-seq
MIRT1547109	hsa-miR-550a	CLIP-seq
MIRT2203569	hsa-miR-609	CLIP-seq
MIRT1547111	hsa-miR-632	CLIP-seq
MIRT1547112	hsa-miR-93	CLIP-seq
MIRT1547113	hsa-miR-98	CLIP-seq
MIRT2436296	hsa-miR-1207-5p	CLIP-seq
MIRT2436297	hsa-miR-1287	CLIP-seq
MIRT2436298	hsa-miR-302a	CLIP-seq
MIRT2436299	hsa-miR-302b	CLIP-seq
MIRT2436300	hsa-miR-302c	CLIP-seq
MIRT2436301	hsa-miR-302d	CLIP-seq
MIRT2436302	hsa-miR-302e	CLIP-seq
MIRT2436303	hsa-miR-3135b	CLIP-seq
MIRT2436304	hsa-miR-372	CLIP-seq
MIRT2436305	hsa-miR-373	CLIP-seq
MIRT2436306	hsa-miR-4736	CLIP-seq
MIRT2436307	hsa-miR-4763-3p	CLIP-seq
MIRT2436308	hsa-miR-512-3p	CLIP-seq
MIRT1547104	hsa-miR-519a	CLIP-seq
MIRT1547105	hsa-miR-519b-3p	CLIP-seq
MIRT1547106	hsa-miR-519c-3p	CLIP-seq
MIRT2436309	hsa-miR-520a-3p	CLIP-seq
MIRT2436310	hsa-miR-520b	CLIP-seq
MIRT2436311	hsa-miR-520c-3p	CLIP-seq
MIRT2436312	hsa-miR-520d-3p	CLIP-seq
MIRT2436313	hsa-miR-520e	CLIP-seq
MIRT2506558	hsa-miR-186	CLIP-seq
MIRT2506559	hsa-miR-192	CLIP-seq
MIRT2506560	hsa-miR-215	CLIP-seq
MIRT2506561	hsa-miR-2964a-5p	CLIP-seq
MIRT2506562	hsa-miR-3130-5p	CLIP-seq
MIRT2506563	hsa-miR-3545-5p	CLIP-seq
MIRT2506564	hsa-miR-361-5p	CLIP-seq
MIRT1547082	hsa-miR-3688-5p	CLIP-seq
MIRT2506565	hsa-miR-4302	CLIP-seq
MIRT2506566	hsa-miR-4436b-5p	CLIP-seq
MIRT2506567	hsa-miR-4470	CLIP-seq
MIRT2506568	hsa-miR-4482	CLIP-seq
MIRT2506569	hsa-miR-4682	CLIP-seq
MIRT2506570	hsa-miR-4727-5p	CLIP-seq
MIRT2506571	hsa-miR-4764-5p	CLIP-seq
MIRT2506572	hsa-miR-4776-3p	CLIP-seq
MIRT2506573	hsa-miR-4796-5p	CLIP-seq
MIRT2506574	hsa-miR-601	CLIP-seq
MIRT2506558	hsa-miR-186	CLIP-seq
MIRT2506559	hsa-miR-192	CLIP-seq
MIRT2506560	hsa-miR-215	CLIP-seq
MIRT2506561	hsa-miR-2964a-5p	CLIP-seq
MIRT2506562	hsa-miR-3130-5p	CLIP-seq
MIRT2506563	hsa-miR-3545-5p	CLIP-seq
MIRT1547082	hsa-miR-3688-5p	CLIP-seq
MIRT2506565	hsa-miR-4302	CLIP-seq
MIRT2506566	hsa-miR-4436b-5p	CLIP-seq
MIRT2506567	hsa-miR-4470	CLIP-seq
MIRT2506568	hsa-miR-4482	CLIP-seq
MIRT2506569	hsa-miR-4682	CLIP-seq
MIRT2506570	hsa-miR-4727-5p	CLIP-seq
MIRT2506571	hsa-miR-4764-5p	CLIP-seq
MIRT2506572	hsa-miR-4776-3p	CLIP-seq
MIRT2506573	hsa-miR-4796-5p	CLIP-seq
MIRT2506574	hsa-miR-601	CLIP-seq

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Transcription factor	Regulation	Reference
VHL	Unknown	17700531

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0005201	Function	Extracellular matrix structural constituent	IEA
GO:0005201	Function	Extracellular matrix structural constituent	TAS	8317999
GO:0005515	Function	Protein binding	IPI	12011424
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005587	Component	Collagen type IV trimer	IBA
GO:0005587	Component	Collagen type IV trimer	IEA
GO:0005587	Component	Collagen type IV trimer	TAS	2846280, 3345760
GO:0005604	Component	Basement membrane	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0006351	Process	DNA-templated transcription	IEA
GO:0014823	Process	Response to activity	IEA
GO:0016525	Process	Negative regulation of angiogenesis	IDA	10625665
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	ISS
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	20551380, 23979707, 25037231, 27068509, 27559042, 28327460, 28675934
GO:0030198	Process	Extracellular matrix organization	NAS	8317999
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	23658023, 23979707, 25037231, 27068509, 27559042, 28327460, 28344315, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	ISS	22261194
GO:0031012	Component	Extracellular matrix	TAS	22261194
GO:0035987	Process	Endodermal cell differentiation	IEP	23154389
GO:0038063	Process	Collagen-activated tyrosine kinase receptor signaling pathway	IBA
GO:0038063	Process	Collagen-activated tyrosine kinase receptor signaling pathway	IEA
GO:0060090	Function	Molecular adaptor activity	EXP	30443360
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IEA

MIM	HGNC	e!Ensembl
120090	2203	ENSG00000134871

P08572

Protein name

Collagen alpha-2(IV) chain [Cleaved into: Canstatin]

Protein function

Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen.; Canstatin, a cleavage product corresponding to th

PDB

1LI1 , 5NAX , 5NB2 , 6MPX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01391	Collagen	56 → 118	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	112 → 173	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	182 → 234	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	291 → 353	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	423 → 483	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	491 → 552	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	679 → 740	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	720 → 778	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	777 → 838	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	812 → 892	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	862 → 938	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	920 → 981	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1032 → 1096	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1098 → 1157	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1152 → 1214	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1278 → 1340	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1332 → 1396	Collagen triple helix repeat (20 copies)	Repeat
PF01413	C4	1490 → 1595	C-terminal tandem repeated domain in type 4 procollagen	Domain
PF01413	C4	1598 → 1710	C-terminal tandem repeated domain in type 4 procollagen	Domain

Sequence

MGRDQRAVAGPALRRWLLLGTVTVGFLAQSVLAGVKKFDVPCGGRDCSGGCQCYPEKGGR
GQPGPVGPQGYNGPPGLQGFPGLQGRKGDKGERGAPGVTGPKGDVGARGVSGFPGADGIP
GHPGQGGPRGRPGYDGCNGTQGDSGPQGPPGSEGFTGPPGPQGPKGQKGEPYALPKEERD
RYRGEPGEPGLVGFQGPPGRPGHVGQMGPVGAPGRPGPPGPPGPKGQQGNRGLGFYGVKG
EKGDVGQPGPNGIPSDTLHPIIAPTGVTFHPDQYKGEKGSEGEPGIRGISLKGEEGIMGF
PGLRGYPGLSGEKGSPGQKGSRGLDGYQGPDGPRGPKGEAGDPGPPGLPAYSPHPSLAKG
ARGDPGFPGAQGEPGSQGEPGDPGLPGPPGLSIGDGDQRRGLPGEMGPKGFIGDPGIPAL
YGGPPGPDGKRGPPGPPGLPGPPGPDGFLFGLKGAKGRAGFPGLPGSPGARGPKGWKGDA
GECRCTEGDEAIKGLPGLPGPKGFAGINGEPGRKGDRGDPGQHGLPGFPGLKGVPGNIGA
PGPKGAKGDSRTITTKGERGQPGVPGVPGMKGDDGSPGRDGLDGFPGLPGPPGDGIKGPP
GDPGYPGIPGTKGTPGEMGPPGLGLPGLKGQRGFPGDAGLPGPPGFLGPPGPAGTPGQID
CDTDVKRAVGGDRQEAIQPGCIGGPKGLPGLPGPPGPTGAKGLRGIPGFAGADGGPGPRG
LPGDAGREGFPGPPGFIGPRGSKGAVGLPGPDGSPGPIGLPGPDGPPGERGLPGEVLGAQ
PGPRGDAGVPGQPGLKGLPGDRGPPGFRGSQGMPGMPGLKGQPGLPGPSGQPGLYGPPGL
HGFPGAPGQEGPLGLPGIPGREGLPGDRGDPGDTGAPGPVGMKGLSGDRGDAGFTGEQGH
PGSPGFKGIDGMPGTPGLKGDRGSPGMDGFQGMPGLKGRPGFPGSKGEAGFFGIPGLKGL
AGEPGFKGSRGDPGPPGPPPVILPGMKDIKGEKGDEGPMGLKGYLGAKGIQGMPGIPGLS
GIPGLPGRPGHIKGVKGDIGVPGIPGLPGFPGVAGPPGITGFPGFIGSRGDKGAPGRAGL
YGEIGATGDFGDIGDTINLPGRPGLKGERGTTGIPGLKGFFGEKGTEGDIGFPGITGVTG
VQGPPGLKGQTGFPGLTGPPGSQGELGRIGLPGGKGDDGWPGAPGLPGFPGLRGIRGLHG
LPGTKGFPGSPGSDIHGDPGFPGPPGERGDPGEANTLPGPVGVPGQKGDQGAPGERGPPG
SPGLQGFPGITPPSNISGAPGDKGAPGIFGLKGYRGPPGPPGSAALPGSKGDTGNPGAPG
TPGTKGWAGDSGPQGRPGVFGLPGEKGPRGEQGFMGNTGPTGAVGDRGPKGPKGDPGFPG
APGTVGAPGIAGIPQKIAVQPGTVGPQGRRGPPGAPGEMGPQGPPGEPGFRGAPGKAGPQ
GRGGVSAVPGFRGDEGPIGHQGPIGQEGAPGRPGSPGLPGMPGRSVSIGYLLVKHSQTDQ
EPMCPVGMNKLWSGYSLLYFEGQEKAHNQDLGLAGSCLARFSTMPFLYCNPGDVCYYASR
NDKSYWLSTTAPLPMMPVAEDEIKPYISRCSVCEAPAIAIAVHSQDVSIPHCPAGWRSLW
IGYSFLMHTAAGDEGGGQSLVSPGSCLEDFRATPFIECNGGRGTCHYYANKYSFWLTTIP
EQSFQGSPSADTLKAGLIRTHISRCQVCMKNL

Sequence length

1712

Interactions

View interactions

594

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebral palsy	Likely pathogenic	rs1013146465, rs2139538791, rs2139537197	RCV001796565 RCV001796562 RCV001849844
COL4A2-related disorder	Likely pathogenic	rs2502050500, rs2502120134	RCV003123296 RCV004552404
Intellectual disability	Likely pathogenic	rs2139537197	RCV001849844
Intraventricular hemorrhage	Likely pathogenic	rs2139553210	RCV001391266
Porencephaly 2	Pathogenic; Likely pathogenic	rs1220432347, rs2139558301, rs2139460629, rs2139534321, rs2502185131, rs2502206494, rs1880548859, rs2502135104, rs1884098435, rs2502153510, rs2502158166, rs387906602, rs387906603, rs1555333626, rs1566525717 View all (4 more)	RCV001730033 RCV002222868 RCV002226892 RCV002249005 RCV003107998 RCV002302849 RCV005254676 RCV003123247 RCV003327357 RCV004595322 RCV004595387 RCV000022467 RCV000022468 RCV005632434 RCV000679958 RCV000850252 RCV000995721 RCV001072141 RCV001358667
Seizure	Likely pathogenic	rs2139537197	RCV001849844
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1022142909	RCV005935088

Show/Hide Unknown Diseases (34)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Benign; Likely benign	rs2296849, rs3803230, rs147765396	RCV005893203 RCV005893196 RCV005903684
Bethlem myopathy 2	Conflicting classifications of pathogenicity	rs2502163650	RCV005863876
BRAIN SMALL VESSEL DISEASE 2B, AUTOSOMAL RECESSIVE	Uncertain significance	rs751015466	RCV006255197
Cervical cancer	Benign; Likely benign	rs147765396, rs147210424	RCV005903685 RCV005904459
Cholangiocarcinoma	Benign	rs9559826, rs2296849	RCV005915344 RCV005893209
Clear cell carcinoma of kidney	Benign; Likely benign	rs2296849, rs147765396, rs147210424	RCV005893204 RCV005903686 RCV005904460
COL4A1 or COL4A2-related cerebral small vessel disease	Uncertain significance	rs912915196	RCV002472138
COL4A2-related cerebral small vessel disease	Conflicting classifications of pathogenicity	rs2502058890	RCV005051977
Colon adenocarcinoma	Benign	rs2296849	RCV005893200
Colorectal cancer	Benign	rs3803230	RCV005893198
concomitant exotropia	Benign; Likely benign	rs201214647, rs192250572, rs531809013, rs191708663	RCV004731294 RCV004730929 RCV004730930 RCV004730931
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	Uncertain significance	rs886049969	RCV003993927
Familial cancer of breast	Conflicting classifications of pathogenicity; Benign; Likely benign	rs759305120, rs147765396, rs147210424	RCV005916299 RCV005903680 RCV005904458
Gastric cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	rs2296849, rs62621885, rs200430407	RCV005893205 RCV005893192 RCV005910921
Hemorrhage, intracerebral, susceptibility to	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs759305120, rs376694121, rs753412782, rs751105211, rs2502185076, rs1884096960, rs2502153730, rs797044947, rs2502181026, rs200275883, rs1352195646, rs78713113, rs2502168055, rs2139505421, rs74124318 View all (8 more)	RCV002501898 RCV005002658 RCV002479761 RCV003388080 RCV002288367 RCV002463415 RCV002463416 RCV003992225 RCV003128118 RCV005012929 RCV003992786 RCV002494972 RCV003988972 RCV003989162 RCV002502220 RCV002504076 RCV002502221 RCV000022469 RCV000022470 RCV000022471 RCV005860098 RCV004792729 RCV002498353
Hepatocellular carcinoma	Benign; Likely benign	rs2296849, rs531809013, rs147765396	RCV005893201 RCV005893211 RCV005903682
Joint hypermobility	Uncertain significance	rs1555328401	RCV000626813
Lung cancer	Benign; Likely benign	rs9559826, rs187904842, rs2296849, rs1049931, rs147765396	RCV005915345 RCV005921238 RCV005893210 RCV005893214 RCV005903690
Malignant lymphoma, large B-cell, diffuse	Benign	rs3803230	RCV005893197
Malignant tumor of esophagus	Benign; Likely benign	rs1049931, rs202208839, rs147765396	RCV005893213 RCV005893194 RCV005903683
Malignant tumor of urinary bladder	Benign; Likely benign	rs147765396	RCV005903681
Melanoma	Benign	rs531809013	RCV005893212
Myoepithelial tumor	Uncertain significance	rs2139481195	RCV002463955
Nonpapillary renal cell carcinoma	Benign	rs2296849	RCV005893202
Optic nerve hypoplasia	Conflicting classifications of pathogenicity	rs12877501, rs200735885, rs201058867	RCV000677259 RCV000677262 RCV000677256
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Uncertain significance	rs9588174, rs2296849, rs62621885, rs147765396, rs7989823	RCV005920024 RCV005893206 RCV005893193 RCV005903687 RCV005913708
Porencephalic cyst	Uncertain significance; Likely benign; Benign	rs756684753, rs886049970, rs150809854, rs886049976, rs397838577, rs760146256	RCV000305363 RCV000366192 RCV000271202 RCV000280551 RCV000322953 RCV000338281
Sarcoma	Likely benign; Benign	rs140592291, rs9559826	RCV005919051 RCV005915341
See cases	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	rs372577230, rs770555680, rs767615338, rs201058867	RCV004584461 RCV002222299 RCV002287733 RCV004584397
Thymoma	Benign; Likely benign	rs9559826, rs2296849, rs202208839	RCV005915343 RCV005893208 RCV005893195
Uterine carcinosarcoma	Benign; Likely benign	rs9559826, rs2296849, rs3803230, rs147765396	RCV005915342 RCV005893207 RCV005893199 RCV005903688
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs9559817, rs140592291, rs115579754, rs373937864, rs1049931, rs147765396, rs147210424	RCV005917768 RCV005919052 RCV005919131 RCV005924365 RCV005893215 RCV005903691 RCV005904461
Vascular dementia	Uncertain significance	rs139124960	RCV001263181
Vasculitis	Uncertain significance	rs1555330577	RCV000626812

Show/Hide Text Mining Associations (85)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
13q deletion syndrome	Associate	28393221
Aortic Dissection	Associate	32062133
Astrocytoma	Associate	12937144
Atherosclerosis	Associate	27389912
Blood Platelet Disorders	Associate	35150448
Brain Diseases	Associate	36811765
Brain Injuries Diffuse	Associate	32515830
Brain Neoplasms	Associate	26277786
Breast Neoplasms	Associate	27891193, 31613058
Carcinoma Hepatocellular	Associate	31905170
Carcinoma Ovarian Epithelial	Associate	25169943
Carcinoma Pancreatic Ductal	Associate	34313325
Cardiomyopathy Hypertrophic	Associate	33558530
Cardiovascular Diseases	Associate	24725463, 28393221, 38459180
Cerebral Hemorrhage	Associate	24001601, 28185542, 31430377, 32515830, 33247988, 33837277, 35943828, 39298701
Cerebral Infarction	Associate	33148145
Cerebral Palsy	Associate	33837277
Cerebral Small Vessel Diseases	Associate	30859180, 31430377, 31719132, 33268848
Cognition Disorders	Associate	33268848
Colorectal Neoplasms	Associate	22320979, 24485021
Congenital Abnormalities	Associate	32515830
Coronary Artery Disease	Associate	21966275, 27389912, 28642624, 35472719
Coronary Disease	Associate	27389912
Diabetes Mellitus Type 2	Associate	34085602
Drug Resistant Epilepsy	Associate	40055992
Ehlers Danlos Syndrome	Associate	40598578
Ehlers Danlos Syndrome Type IV	Associate	40598578
Encephalomalacia	Associate	39350129
Epilepsy	Associate	30413629, 33577044, 40055992
Esophageal Neoplasms	Associate	26631031
Esophageal Squamous Cell Carcinoma	Associate	36290884
Exotropia	Associate	39773702
Familial schizencephaly	Associate	32515830
Fibroma	Stimulate	17559135
Fibrosis	Associate	33558530, 37266443
Gastritis Atrophic	Associate	37868053
Glioblastoma	Associate	12937144, 17002787
Heart Defects Congenital	Associate	28393221
Hematoma Subdural	Associate	39350129
Hemiplegia	Associate	22209246
Hemorrhage	Associate	32515830, 40598578
Hemorrhagic Stroke	Associate	33577044
Hypoxia Ischemia Brain	Associate	39350129
Intracranial Hemorrhages	Associate	35150448
Keratoconus	Associate	21527998, 32165822
Leiomyoma	Associate	22925684
Leukoencephalopathies	Associate	33148145
Lung Neoplasms	Stimulate	26277786
Malformations of Cortical Development	Associate	33577044
Melanoma	Associate	15974811, 26277786
Meningioma	Associate	36811765
Metabolic Diseases	Associate	35943828
Microphthalmia Syndromic 6	Associate	35943828
Myocardial Infarction	Associate	27389912, 28642624
Neoplasm Metastasis	Stimulate	27891193
Neoplasms	Associate	17002787, 23818951, 26158290, 26631031, 27906681, 28072738, 36012259, 36811765
Neoplasms Squamous Cell	Associate	29914539
Neurodegenerative Diseases	Associate	30413629
Neurologic Manifestations	Associate	39350129
Obesity	Associate	34085602, 34555498
Optic Nerve Hypoplasia	Associate	32040484
Orofacial Cleft 1	Associate	21052871
Osteosarcoma	Associate	38217543
Pancreatic Neoplasms	Associate	17075979
Paresis	Associate	22209246
Pelvic Organ Prolapse	Associate	31663982
Periodontitis	Associate	36438900
Periventricular Nodular Heterotopia	Associate	33837277
Plaque Atherosclerotic	Associate	27389912
Polymicrogyria	Associate	33837277
Porencephaly	Associate	22209246, 24001601, 32515830
Pre Eclampsia	Associate	18598365, 24331737, 26010865
Prostatic Neoplasms	Associate	26158290, 35082164
Psychotic Disorders	Inhibit	38340697
Rupture	Associate	27389912
Scleroderma Diffuse	Associate	24812288
Seizures	Associate	30413629, 33577044
Severe Acute Respiratory Syndrome	Associate	39350129
Squamous Cell Carcinoma of Head and Neck	Associate	34999279, 35426219
Stiff Skin Syndrome	Associate	28642624
Stomach Neoplasms	Associate	31886120, 37868053
Stroke	Associate	32106772
Stroke Lacunar	Associate	33837277
Triple Negative Breast Neoplasms	Associate	27906681
Uterine Cervical Neoplasms	Associate	36683048

COL4A2 (collagen type IV alpha 2 chain)