COL12A1 (collagen type XII alpha 1 chain)

Gene

• Entrez ID: 1303
• Gene name: Collagen type XII alpha 1 chain
• Gene symbol: COL12A1
• Synonyms (NCBI Gene): BA209D8.1, BTHLM2, COL12A1L, DJ234P15.1, EDSMYP, UCMD2
• Chromosome: 6
• Chromosome location: 6q13-q14.1
• Summary: This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that i

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs41266761	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs151324784	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200201449	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200443479	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs200487396	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs201337277	G>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, synonymous variant
rs371399251	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs375760724	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs755536829	T>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs796052093	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs796052094	C>T	Pathogenic	Missense variant, coding sequence variant
rs875989819	C>T	Pathogenic	Splice donor variant
rs984314526	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1064795770	A>G	Likely-pathogenic	Splice donor variant
rs1064797326	C>T	Likely-pathogenic	Splice donor variant
rs1131691587	G>A	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1131691933	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1274606112	C>T	Likely-pathogenic	Splice donor variant
rs1329022055	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs1366112521	C>T	Likely-pathogenic	Splice donor variant
rs1471550984	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1554168326	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1554169319	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1554182935	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562223444	G>A	Pathogenic	Coding sequence variant, stop gained
rs1562294703	G>A	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1562310723	T>G	Likely-pathogenic	Splice acceptor variant, intron variant
rs1582025807	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1582068925	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1582133194	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1582139761	A>C	Pathogenic	Stop gained, coding sequence variant
rs1582196903	->T	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1582208315	->T	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020009	hsa-miR-375	Microarray	20215506
MIRT021464	hsa-miR-9-5p	Microarray	17612493
MIRT023070	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT024050	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT438071	hsa-miR-26b-5p	pSILAC	23939832
MIRT438071	hsa-miR-26b-5p	pSILAC	23939832
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT628765	hsa-miR-4533	HITS-CLIP	23824327
MIRT628764	hsa-miR-3202	HITS-CLIP	23824327
MIRT629716	hsa-miR-6079	HITS-CLIP	23824327
MIRT659434	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT628765	hsa-miR-4533	HITS-CLIP	23824327
MIRT628764	hsa-miR-3202	HITS-CLIP	23824327
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT628765	hsa-miR-4533	HITS-CLIP	23824327
MIRT628764	hsa-miR-3202	HITS-CLIP	23824327
MIRT629716	hsa-miR-6079	HITS-CLIP	23824327
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT628765	hsa-miR-4533	HITS-CLIP	23824327
MIRT628764	hsa-miR-3202	HITS-CLIP	23824327
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT483955	hsa-miR-548as-3p	PAR-CLIP	23592263
MIRT483954	hsa-miR-1252-3p	PAR-CLIP	23592263
MIRT483953	hsa-miR-4712-3p	PAR-CLIP	23592263
MIRT483952	hsa-miR-935	PAR-CLIP	23592263
MIRT483951	hsa-miR-5004-5p	PAR-CLIP	23592263
MIRT483950	hsa-miR-520d-5p	PAR-CLIP	23592263
MIRT483949	hsa-miR-524-5p	PAR-CLIP	23592263
MIRT483948	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT483947	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT735528	hsa-miR-15b-5p	In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blotting	34233716
MIRT735950	hsa-miR-101-5p	Luciferase reporter assay, Western blotting, Immunofluorescence, qRT-PCR, ELISA	32633566
MIRT438071	hsa-miR-26b-5p	Western blotting, Microarray, qRT-PCR	33027767
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT628765	hsa-miR-4533	HITS-CLIP	23824327
MIRT628764	hsa-miR-3202	HITS-CLIP	23824327
MIRT629716	hsa-miR-6079	HITS-CLIP	23824327
MIRT659434	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT628765	hsa-miR-4533	HITS-CLIP	23824327
MIRT628764	hsa-miR-3202	HITS-CLIP	23824327
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT628765	hsa-miR-4533	HITS-CLIP	23824327
MIRT628764	hsa-miR-3202	HITS-CLIP	23824327
MIRT629716	hsa-miR-6079	HITS-CLIP	23824327
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT628765	hsa-miR-4533	HITS-CLIP	23824327
MIRT628764	hsa-miR-3202	HITS-CLIP	23824327
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT483955	hsa-miR-548as-3p	PAR-CLIP	23592263
MIRT483954	hsa-miR-1252-3p	PAR-CLIP	23592263
MIRT483953	hsa-miR-4712-3p	PAR-CLIP	23592263
MIRT483952	hsa-miR-935	PAR-CLIP	23592263
MIRT483951	hsa-miR-5004-5p	PAR-CLIP	23592263
MIRT483950	hsa-miR-520d-5p	PAR-CLIP	23592263
MIRT483949	hsa-miR-524-5p	PAR-CLIP	23592263
MIRT483948	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT483947	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT902444	hsa-miR-1184	CLIP-seq
MIRT902445	hsa-miR-1205	CLIP-seq
MIRT902446	hsa-miR-124	CLIP-seq
MIRT902447	hsa-miR-298	CLIP-seq
MIRT902448	hsa-miR-3121-5p	CLIP-seq
MIRT902449	hsa-miR-3133	CLIP-seq
MIRT902450	hsa-miR-3158-5p	CLIP-seq
MIRT902451	hsa-miR-3183	CLIP-seq
MIRT902452	hsa-miR-3919	CLIP-seq
MIRT902453	hsa-miR-3926	CLIP-seq
MIRT902454	hsa-miR-3938	CLIP-seq
MIRT902455	hsa-miR-4463	CLIP-seq
MIRT902456	hsa-miR-4511	CLIP-seq
MIRT902457	hsa-miR-4640-5p	CLIP-seq
MIRT902458	hsa-miR-4667-3p	CLIP-seq
MIRT902459	hsa-miR-4723-3p	CLIP-seq
MIRT902460	hsa-miR-4726-5p	CLIP-seq
MIRT902461	hsa-miR-4756-3p	CLIP-seq
MIRT902462	hsa-miR-506	CLIP-seq
MIRT902463	hsa-miR-545	CLIP-seq
MIRT902464	hsa-miR-642a	CLIP-seq
MIRT902465	hsa-miR-3140-3p	CLIP-seq
MIRT902466	hsa-miR-548g	CLIP-seq
MIRT1546539	hsa-miR-101	CLIP-seq
MIRT1546540	hsa-miR-1226	CLIP-seq
MIRT902446	hsa-miR-124	CLIP-seq
MIRT1546541	hsa-miR-1276	CLIP-seq
MIRT1546542	hsa-miR-144	CLIP-seq
MIRT1546543	hsa-miR-183	CLIP-seq
MIRT1546544	hsa-miR-2053	CLIP-seq
MIRT1546545	hsa-miR-21	CLIP-seq
MIRT1546546	hsa-miR-219-2-3p	CLIP-seq
MIRT1546547	hsa-miR-2467-5p	CLIP-seq
MIRT902447	hsa-miR-298	CLIP-seq
MIRT1546548	hsa-miR-3125	CLIP-seq
MIRT1546549	hsa-miR-3171	CLIP-seq
MIRT1546550	hsa-miR-3188	CLIP-seq
MIRT1546551	hsa-miR-3674	CLIP-seq
MIRT1546552	hsa-miR-3714	CLIP-seq
MIRT1546553	hsa-miR-3910	CLIP-seq
MIRT1546554	hsa-miR-3913-3p	CLIP-seq
MIRT1546555	hsa-miR-3916	CLIP-seq
MIRT902452	hsa-miR-3919	CLIP-seq
MIRT1546556	hsa-miR-3925-3p	CLIP-seq
MIRT1546557	hsa-miR-3975	CLIP-seq
MIRT1546558	hsa-miR-4268	CLIP-seq
MIRT1546559	hsa-miR-4311	CLIP-seq
MIRT1546560	hsa-miR-4660	CLIP-seq
MIRT1546561	hsa-miR-4687-3p	CLIP-seq
MIRT1546562	hsa-miR-4695-5p	CLIP-seq
MIRT1546563	hsa-miR-4707-5p	CLIP-seq
MIRT1546564	hsa-miR-4710	CLIP-seq
MIRT1546565	hsa-miR-4733-3p	CLIP-seq
MIRT1546566	hsa-miR-4753-3p	CLIP-seq
MIRT902461	hsa-miR-4756-3p	CLIP-seq
MIRT1546567	hsa-miR-4768-5p	CLIP-seq
MIRT1546568	hsa-miR-4792	CLIP-seq
MIRT1546569	hsa-miR-485-5p	CLIP-seq
MIRT1546570	hsa-miR-489	CLIP-seq
MIRT902462	hsa-miR-506	CLIP-seq
MIRT1546571	hsa-miR-508-5p	CLIP-seq
MIRT1546572	hsa-miR-548an	CLIP-seq
MIRT1546573	hsa-miR-583	CLIP-seq
MIRT1546574	hsa-miR-587	CLIP-seq
MIRT1546575	hsa-miR-590-5p	CLIP-seq
MIRT1546539	hsa-miR-101	CLIP-seq
MIRT1546576	hsa-miR-1197	CLIP-seq
MIRT902446	hsa-miR-124	CLIP-seq
MIRT1546577	hsa-miR-1255a	CLIP-seq
MIRT1546578	hsa-miR-1255b	CLIP-seq
MIRT1546579	hsa-miR-139-5p	CLIP-seq
MIRT1546542	hsa-miR-144	CLIP-seq
MIRT1546580	hsa-miR-2278	CLIP-seq
MIRT1546547	hsa-miR-2467-5p	CLIP-seq
MIRT1546581	hsa-miR-302f	CLIP-seq
MIRT1546582	hsa-miR-30a	CLIP-seq
MIRT1546583	hsa-miR-30b	CLIP-seq
MIRT1546584	hsa-miR-30c	CLIP-seq
MIRT1546585	hsa-miR-30d	CLIP-seq
MIRT1546586	hsa-miR-30e	CLIP-seq
MIRT902449	hsa-miR-3133	CLIP-seq
MIRT1546587	hsa-miR-3182	CLIP-seq
MIRT1546550	hsa-miR-3188	CLIP-seq
MIRT1546588	hsa-miR-3607-3p	CLIP-seq
MIRT1546589	hsa-miR-3613-3p	CLIP-seq
MIRT1546590	hsa-miR-3618	CLIP-seq
MIRT1546591	hsa-miR-3662	CLIP-seq
MIRT1546592	hsa-miR-3690	CLIP-seq
MIRT1546593	hsa-miR-3713	CLIP-seq
MIRT1546554	hsa-miR-3913-3p	CLIP-seq
MIRT902452	hsa-miR-3919	CLIP-seq
MIRT902453	hsa-miR-3926	CLIP-seq
MIRT1546557	hsa-miR-3975	CLIP-seq
MIRT1546594	hsa-miR-4254	CLIP-seq
MIRT1546558	hsa-miR-4268	CLIP-seq
MIRT1546595	hsa-miR-4462	CLIP-seq
MIRT902455	hsa-miR-4463	CLIP-seq
MIRT1546596	hsa-miR-4474-3p	CLIP-seq
MIRT902456	hsa-miR-4511	CLIP-seq
MIRT1546597	hsa-miR-4637	CLIP-seq
MIRT902457	hsa-miR-4640-5p	CLIP-seq
MIRT902458	hsa-miR-4667-3p	CLIP-seq
MIRT1546561	hsa-miR-4687-3p	CLIP-seq
MIRT1546598	hsa-miR-4707-3p	CLIP-seq
MIRT1546599	hsa-miR-4718	CLIP-seq
MIRT902460	hsa-miR-4726-5p	CLIP-seq
MIRT1546600	hsa-miR-4747-5p	CLIP-seq
MIRT902461	hsa-miR-4756-3p	CLIP-seq
MIRT1546569	hsa-miR-485-5p	CLIP-seq
MIRT1546570	hsa-miR-489	CLIP-seq
MIRT902462	hsa-miR-506	CLIP-seq
MIRT902463	hsa-miR-545	CLIP-seq
MIRT1546601	hsa-miR-548a-5p	CLIP-seq
MIRT1546602	hsa-miR-548ab	CLIP-seq
MIRT1546603	hsa-miR-548ak	CLIP-seq
MIRT1546572	hsa-miR-548an	CLIP-seq
MIRT1546604	hsa-miR-548b-5p	CLIP-seq
MIRT1546605	hsa-miR-548c-5p	CLIP-seq
MIRT1546606	hsa-miR-548d-5p	CLIP-seq
MIRT1546607	hsa-miR-548h	CLIP-seq
MIRT1546608	hsa-miR-548i	CLIP-seq
MIRT1546609	hsa-miR-548j	CLIP-seq
MIRT1546610	hsa-miR-548n	CLIP-seq
MIRT1546611	hsa-miR-548w	CLIP-seq
MIRT1546612	hsa-miR-548y	CLIP-seq
MIRT1546613	hsa-miR-559	CLIP-seq
MIRT1546614	hsa-miR-7	CLIP-seq
MIRT1546615	hsa-miR-934	CLIP-seq
MIRT1546539	hsa-miR-101	CLIP-seq
MIRT902444	hsa-miR-1184	CLIP-seq
MIRT902445	hsa-miR-1205	CLIP-seq
MIRT1546540	hsa-miR-1226	CLIP-seq
MIRT902446	hsa-miR-124	CLIP-seq
MIRT2203458	hsa-miR-1273	CLIP-seq
MIRT2203459	hsa-miR-1297	CLIP-seq
MIRT1546542	hsa-miR-144	CLIP-seq
MIRT2203460	hsa-miR-15a	CLIP-seq
MIRT2203461	hsa-miR-15b	CLIP-seq
MIRT2203462	hsa-miR-16	CLIP-seq
MIRT2203463	hsa-miR-195	CLIP-seq
MIRT2203464	hsa-miR-2117	CLIP-seq
MIRT1546547	hsa-miR-2467-5p	CLIP-seq
MIRT2203465	hsa-miR-25	CLIP-seq
MIRT2203466	hsa-miR-26a	CLIP-seq
MIRT2203467	hsa-miR-26b	CLIP-seq
MIRT2203468	hsa-miR-2964a-5p	CLIP-seq
MIRT902447	hsa-miR-298	CLIP-seq
MIRT2203469	hsa-miR-3074-5p	CLIP-seq
MIRT1546582	hsa-miR-30a	CLIP-seq
MIRT1546583	hsa-miR-30b	CLIP-seq
MIRT1546584	hsa-miR-30c	CLIP-seq
MIRT1546585	hsa-miR-30d	CLIP-seq
MIRT1546586	hsa-miR-30e	CLIP-seq
MIRT902448	hsa-miR-3121-5p	CLIP-seq
MIRT2203470	hsa-miR-3129-3p	CLIP-seq
MIRT902465	hsa-miR-3140-3p	CLIP-seq
MIRT2203471	hsa-miR-3151	CLIP-seq
MIRT902450	hsa-miR-3158-5p	CLIP-seq
MIRT1546587	hsa-miR-3182	CLIP-seq
MIRT1546550	hsa-miR-3188	CLIP-seq
MIRT2203472	hsa-miR-32	CLIP-seq
MIRT2203473	hsa-miR-326	CLIP-seq
MIRT2203474	hsa-miR-330-5p	CLIP-seq
MIRT2203475	hsa-miR-338-3p	CLIP-seq
MIRT2203476	hsa-miR-3591-3p	CLIP-seq
MIRT2203477	hsa-miR-363	CLIP-seq
MIRT2203478	hsa-miR-367	CLIP-seq
MIRT1546552	hsa-miR-3714	CLIP-seq
MIRT1546553	hsa-miR-3910	CLIP-seq
MIRT1546554	hsa-miR-3913-3p	CLIP-seq
MIRT1546557	hsa-miR-3975	CLIP-seq
MIRT2203479	hsa-miR-424	CLIP-seq
MIRT2203480	hsa-miR-4272	CLIP-seq
MIRT2203481	hsa-miR-4317	CLIP-seq
MIRT2203482	hsa-miR-432	CLIP-seq
MIRT2203483	hsa-miR-4420	CLIP-seq
MIRT2203484	hsa-miR-4465	CLIP-seq
MIRT2203485	hsa-miR-4494	CLIP-seq
MIRT2203486	hsa-miR-4520a-5p	CLIP-seq
MIRT2203487	hsa-miR-4520b-5p	CLIP-seq
MIRT2203488	hsa-miR-4530	CLIP-seq
MIRT2203489	hsa-miR-4633-3p	CLIP-seq
MIRT2203490	hsa-miR-4649-3p	CLIP-seq
MIRT902458	hsa-miR-4667-3p	CLIP-seq
MIRT2203491	hsa-miR-4668-3p	CLIP-seq
MIRT2203492	hsa-miR-4672	CLIP-seq
MIRT2203493	hsa-miR-4684-5p	CLIP-seq
MIRT2203494	hsa-miR-4699-3p	CLIP-seq
MIRT1546598	hsa-miR-4707-3p	CLIP-seq
MIRT2203495	hsa-miR-4719	CLIP-seq
MIRT2203496	hsa-miR-4729	CLIP-seq
MIRT1546565	hsa-miR-4733-3p	CLIP-seq
MIRT1546600	hsa-miR-4747-5p	CLIP-seq
MIRT2203497	hsa-miR-4795-3p	CLIP-seq
MIRT1546569	hsa-miR-485-5p	CLIP-seq
MIRT1546570	hsa-miR-489	CLIP-seq
MIRT2203498	hsa-miR-497	CLIP-seq
MIRT902462	hsa-miR-506	CLIP-seq
MIRT2203499	hsa-miR-513b	CLIP-seq
MIRT2203500	hsa-miR-516a-3p	CLIP-seq
MIRT902463	hsa-miR-545	CLIP-seq
MIRT1546572	hsa-miR-548an	CLIP-seq
MIRT2203501	hsa-miR-548c-3p	CLIP-seq
MIRT902466	hsa-miR-548g	CLIP-seq
MIRT2203502	hsa-miR-551a	CLIP-seq
MIRT2203503	hsa-miR-551b	CLIP-seq
MIRT2203504	hsa-miR-624	CLIP-seq
MIRT2203505	hsa-miR-630	CLIP-seq
MIRT2203506	hsa-miR-636	CLIP-seq
MIRT2203507	hsa-miR-645	CLIP-seq
MIRT2203508	hsa-miR-646	CLIP-seq
MIRT2203509	hsa-miR-671-3p	CLIP-seq
MIRT2203510	hsa-miR-758	CLIP-seq
MIRT2203511	hsa-miR-890	CLIP-seq
MIRT2203512	hsa-miR-92a	CLIP-seq
MIRT2203513	hsa-miR-92b	CLIP-seq
MIRT902465	hsa-miR-3140-3p	CLIP-seq
MIRT2203497	hsa-miR-4795-3p	CLIP-seq
MIRT2427401	hsa-miR-1179	CLIP-seq
MIRT2427402	hsa-miR-1180	CLIP-seq
MIRT2427403	hsa-miR-1206	CLIP-seq
MIRT902446	hsa-miR-124	CLIP-seq
MIRT2427404	hsa-miR-1273g	CLIP-seq
MIRT1546541	hsa-miR-1276	CLIP-seq
MIRT2427405	hsa-miR-135a	CLIP-seq
MIRT2427406	hsa-miR-135b	CLIP-seq
MIRT2203460	hsa-miR-15a	CLIP-seq
MIRT2203461	hsa-miR-15b	CLIP-seq
MIRT2203462	hsa-miR-16	CLIP-seq
MIRT2203463	hsa-miR-195	CLIP-seq
MIRT1546544	hsa-miR-2053	CLIP-seq
MIRT1546545	hsa-miR-21	CLIP-seq
MIRT2427407	hsa-miR-216a	CLIP-seq
MIRT2427408	hsa-miR-216b	CLIP-seq
MIRT1546580	hsa-miR-2278	CLIP-seq
MIRT902447	hsa-miR-298	CLIP-seq
MIRT1546581	hsa-miR-302f	CLIP-seq
MIRT2427409	hsa-miR-3121-3p	CLIP-seq
MIRT1546548	hsa-miR-3125	CLIP-seq
MIRT2427410	hsa-miR-3163	CLIP-seq
MIRT1546549	hsa-miR-3171	CLIP-seq
MIRT2427411	hsa-miR-323b-5p	CLIP-seq
MIRT2427412	hsa-miR-3617	CLIP-seq
MIRT1546551	hsa-miR-3674	CLIP-seq
MIRT1546593	hsa-miR-3713	CLIP-seq
MIRT1546552	hsa-miR-3714	CLIP-seq
MIRT2427413	hsa-miR-376a	CLIP-seq
MIRT2427414	hsa-miR-376b	CLIP-seq
MIRT1546553	hsa-miR-3910	CLIP-seq
MIRT1546555	hsa-miR-3916	CLIP-seq
MIRT1546556	hsa-miR-3925-3p	CLIP-seq
MIRT2427415	hsa-miR-3942-3p	CLIP-seq
MIRT2203479	hsa-miR-424	CLIP-seq
MIRT2427416	hsa-miR-4307	CLIP-seq
MIRT2427417	hsa-miR-431	CLIP-seq
MIRT1546559	hsa-miR-4311	CLIP-seq
MIRT2427418	hsa-miR-4464	CLIP-seq
MIRT2427419	hsa-miR-4477b	CLIP-seq
MIRT1546597	hsa-miR-4637	CLIP-seq
MIRT2427420	hsa-miR-4653-3p	CLIP-seq
MIRT2427421	hsa-miR-4694-5p	CLIP-seq
MIRT2203494	hsa-miR-4699-3p	CLIP-seq
MIRT1546563	hsa-miR-4707-5p	CLIP-seq
MIRT2427422	hsa-miR-4720-3p	CLIP-seq
MIRT2203496	hsa-miR-4729	CLIP-seq
MIRT2427423	hsa-miR-4748	CLIP-seq
MIRT1546566	hsa-miR-4753-3p	CLIP-seq
MIRT902461	hsa-miR-4756-3p	CLIP-seq
MIRT1546567	hsa-miR-4768-5p	CLIP-seq
MIRT2203497	hsa-miR-4795-3p	CLIP-seq
MIRT2427424	hsa-miR-4802-3p	CLIP-seq
MIRT2203498	hsa-miR-497	CLIP-seq
MIRT902462	hsa-miR-506	CLIP-seq
MIRT1546571	hsa-miR-508-5p	CLIP-seq
MIRT2427425	hsa-miR-518a-5p	CLIP-seq
MIRT2427426	hsa-miR-527	CLIP-seq
MIRT902463	hsa-miR-545	CLIP-seq
MIRT2427427	hsa-miR-577	CLIP-seq
MIRT1546573	hsa-miR-583	CLIP-seq
MIRT1546575	hsa-miR-590-5p	CLIP-seq
MIRT2427428	hsa-miR-606	CLIP-seq
MIRT2427429	hsa-miR-641	CLIP-seq
MIRT2427430	hsa-miR-944	CLIP-seq
MIRT2203459	hsa-miR-1297	CLIP-seq
MIRT2203466	hsa-miR-26a	CLIP-seq
MIRT2203467	hsa-miR-26b	CLIP-seq
MIRT902465	hsa-miR-3140-3p	CLIP-seq
MIRT2203484	hsa-miR-4465	CLIP-seq
MIRT1546543	hsa-miR-183	CLIP-seq
MIRT2678386	hsa-miR-3179	CLIP-seq
MIRT2678387	hsa-miR-4269	CLIP-seq
MIRT2678388	hsa-miR-4514	CLIP-seq
MIRT2678389	hsa-miR-4692	CLIP-seq
MIRT2678390	hsa-miR-4736	CLIP-seq
MIRT2678391	hsa-miR-4742-5p	CLIP-seq
MIRT2678392	hsa-miR-4747-3p	CLIP-seq
MIRT902463	hsa-miR-545	CLIP-seq
MIRT2678393	hsa-miR-760	CLIP-seq
MIRT2678394	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005595	Component	Collagen type XII trimer	NAS	1427837
GO:0005595	Component	Collagen type XII trimer	TAS
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0009888	Process	Tissue development	IEA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	NAS	1427837
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	20551380, 23979707, 25037231, 28327460, 28675934
GO:0030199	Process	Collagen fibril organization	NAS	1427837
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	23658023, 23979707, 25037231, 28327460, 28675934
GO:0035987	Process	Endodermal cell differentiation	IBA
GO:0035987	Process	Endodermal cell differentiation	IEP	23154389
GO:0070062	Component	Extracellular exosome	HDA	21362503
GO:1903561	Component	Extracellular vesicle	HDA	24769233

Other IDs

• MIM: 120320
• HGNC: 2188
• e!Ensembl: ENSG00000111799

Protein

• UniProt ID: Q99715
• Protein name: Collagen alpha-1(XII) chain
• Protein function: Type XII collagen interacts with type I collagen-containing fibrils, the COL1 domain could be associated with the surface of the fibrils, and the COL2 and NC3 domains may be localized in the perifibrillar matrix.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00041	fn3	26 → 105	Fibronectin type III domain	Domain
  PF00092	VWA	140 → 311	von Willebrand factor type A domain	Domain
  PF00041	fn3	335 → 416	Fibronectin type III domain	Domain
  PF00092	VWA	440 → 611	von Willebrand factor type A domain	Domain
  PF00041	fn3	633 → 712	Fibronectin type III domain	Domain
  PF00041	fn3	724 → 801	Fibronectin type III domain	Domain
  PF00041	fn3	815 → 894	Fibronectin type III domain	Domain
  PF00041	fn3	906 → 986	Fibronectin type III domain	Domain
  PF00041	fn3	999 → 1077	Fibronectin type III domain	Domain
  PF00041	fn3	1088 → 1168	Fibronectin type III domain	Domain
  PF00092	VWA	1199 → 1370	von Willebrand factor type A domain	Domain
  PF00041	fn3	1386 → 1465	Fibronectin type III domain	Domain
  PF00041	fn3	1475 → 1556	Fibronectin type III domain	Domain
  PF00041	fn3	1567 → 1646	Fibronectin type III domain	Domain
  PF00041	fn3	1656 → 1734	Fibronectin type III domain	Domain
  PF00041	fn3	1754 → 1835	Fibronectin type III domain	Domain
  PF00041	fn3	1845 → 1926	Fibronectin type III domain	Domain
  PF00041	fn3	1937 → 2016	Fibronectin type III domain	Domain
  PF00041	fn3	2026 → 2108	Fibronectin type III domain	Domain
  PF00041	fn3	2117 → 2195	Fibronectin type III domain	Domain
  PF00041	fn3	2205 → 2283	Fibronectin type III domain	Domain
  PF00092	VWA	2323 → 2495	von Willebrand factor type A domain	Domain
  PF01391	Collagen	2745 → 2802	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	2800 → 2853	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	2844 → 2902	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	2937 → 2994	Collagen triple helix repeat (20 copies)	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Found in collagen I-containing tissues: both isoform 1 and isoform 2 appear in amnion, chorion, skeletal muscle, small intestine, and in cell culture of dermal fibroblasts, keratinocytes and endothelial cells. Only isoform 2 is found i
• Sequence:

  MRSRLPPALAALGAALLLSSIEAEVDPPSDLNFKIIDENTVHMSWAKPVDPIVGYRITVD
  PTTDGPTKEFTLSASTTETLLSELVPETEYVVTITSYDEVEESVPVIGQLTIQTGSSTKP
  VEKKPGKTEIQKCSVSAWTDLVFLVDGSWSVGRNNFKYILDFIAALVSAFDIGEEKTRVG
  VVQYSSDTRTEFNLNQYYQRDELLAAIKKIPYKGGNTMTGDAIDYLVKNTFTESAGARVG
  FPKVAIIITDGKSQDEVEIPARELRNVGVEVFSLGIKAADAKELKQIASTPSLNHVFNVA
  NFDAIVDIQNEIISQVCSGVDEQLGELVSGEEVVEPPSNLIAMEVSSKYVKLNWNPSPSP
  VTGYKVILTPMTAGSRQHALSVGPQTTTLSVRDLSADTEYQISVSAMKGMTSSEPISIME
  KTQPMKVQVECSRGVDIKADIVFLVDGSYSIGIANFVKVRAFLEVLVKSFEISPNRVQIS
  LVQYSRDPHTEFTLKKFTKVEDIIEAINTFPYRGGSTNTGKAMTYVREKIFVPSKGSRSN
  VPKVMILITDGKSSDAFRDPAIKLRNSDVEIFAVGVKDAVRSELEAIASPPAETHVFTVE
  DFDAFQRISFELTQSICLRIEQELAAIKKKAYVPPKDLSFSEVTSYGFKTNWSPAGENVF
  SYHITYKEAAGDDEVTVVEPASSTSVVLSSLKPETLYLVNVTAEYEDGFSIPLAGEETTE
  EVKGAPRNLKVTDETTDSFKITWTQAPGRVLRYRIIYRPVAGGESREVTTPPNQRRRTLE
  NLIPDTKYEVSVIPEYFSGPGTPLTGNAATEEVRGNPRDLRVSDPTTSTMKLSWSGAPGK
  VKQYLVTYTPVAGGETQEVTVRGDTTNTVLQGLKEGTQYALSVTALYASGAGDALFGEGT
  TLEERGSPQDLVTKDITDTSIGAYWTSAPGMVRGYRVSWKSLYDDVDTGEKNLPEDAIHT
  MIENLQPETKYRISVFATYSSGEGEPLTGDATTELSQDSKTLKVDEETENTMRVTWKPAP
  GKVVNYRVVYRPHGRGKQMVAKVPPTVTSTVLKRLQPQTTYDITVLPIYKMGEGKLRQGS
  GTTASRFKSPRNLKTSDPTMSSFRVTWEPAPGEVKGYKVTFHPTGDDRRLGELVVGPYDN
  TVVLEELRAGTTYKVNVFGMFDGGESSPLVGQEMTTLSDTTVMPILSSGMECLTRAEADI
  VLLVDGSWSIGRANFRTVRSFISRIVEVFDIGPKRVQIALAQYSGDPRTEWQLNAHRDKK
  SLLQAVANLPYKGGNTLTGMALNFIRQQNFRTQAGMRPRARKIGVLITDGKSQDDVEAPS
  KKLKDEGVELFAIGIKNADEVELKMIATDPDDTHAYNVADFESLSRIVDDLTINLCNSVK
  GPGDLEAPSNLVISERTHRSFRVSWTPPSDSVDRYKVEYYPVSGGKRQEFYVSRMETSTV
  LKDLKPETEYVVNVYSVVEDEYSEPLKGTEKTLPVPVVSLNIYDVGPTTMHVQWQPVGGA
  TGYILSYKPVKDTEPTRPKEVRLGPTVNDMQLTDLVPNTEYAVTVQAVLHDLTSEPVTVR
  EVTLPLPRPQDLKLRDVTHSTMNVFWEPVPGKVRKYIVRYKTPEEDVKEVEVDRSETSTS
  LKDLFSQTLYTVSVSAVHDEGESPPVTAQETTRPVPAPTNLKITEVTSEGFRGTWDHGAS
  DVSLYRITWAPFGSSDKMETILNGDENTLVFENLNPNTIYEVSITAIYPDESESDDLIGS
  ERTLPILTTQAPKSGPRNLQVYNATSNSLTVKWDPASGRVQKYRITYQPSTGEGNEQTTT
  IGGRQNSVVLQKLKPDTPYTITVSSLYPDGEGGRMTGRGKTKPLNTVRNLRVYDPSTSTL
  NVRWDHAEGNPRQYKLFYAPAAGGPEELVPIPGNTNYAILRNLQPDTSYTVTVVPVYTEG
  DGGRTSDTGRTLMRGLARNVQVYNPTPNSLDVRWDPAPGPVLQYRVVYSPVDGTRPSESI
  VVPGNTRMVHLERLIPDTLYSVNLVALYSDGEGNPSPAQGRTLPRSGPRNLRVFGETTNS
  LSVAWDHADGPVQQYRIIYSPTVGDPIDEYTTVPGRRNNVILQPLQPDTPYKITVIAVYE
  DGDGGHLTGNGRTVGLLPPQNIHISDEWYTRFRVSWDPSPSPVLGYKIVYKPVGSNEPME
  AFVGEMTSYTLHNLNPSTTYDVNVYAQYDSGLSVPLTDQGTTLYLNVTDLKTYQIGWDTF
  CVKWSPHRAATSYRLKLSPADGTRGQEITVRGSETSHCFTGLSPDTDYGVTVFVQTPNLE
  GPGVSVKEHTTVKPTEAPTEPPTPPPPPTIPPARDVCKGAKADIVFLTDASWSIGDDNFN
  KVVKFIFNTVGGFDEISPAGIQVSFVQYSDEVKSEFKLNTYNDKALALGALQNIRYRGGN
  TRTGKALTFIKEKVLTWESGMRKNVPKVLVVVTDGRSQDEVKKAALVIQQSGFSVFVVGV
  ADVDYNELANIASKPSERHVFIVDDFESFEKIEDNLITFVCETATSSCPLIYLDGYTSPG
  FKMLEAYNLTEKNFASVQGVSLESGSFPSYSAYRIQKNAFVNQPTADLHPNGLPPSYTII
  LLFRLLPETPSDPFAIWQITDRDYKPQVGVIADPSSKTLSFFNKDTRGEVQTVTFDTEEV
  KTLFYGSFHKVHIVVTSKSVKIYIDCYEIIEKDIKEAGNITTDGYEILGKLLKGERKSAA
  FQIQSFDIVCSPVWTSRDRCCDIPSRRDEGKCPAFPNSCTCTQDSVGPPGPPGPAGGPGA
  KGPRGERGISGAIGPPGPRGDIGPPGPQGPPGPQGPNGLSIPGEQGRQGMKGDAGEPGLP
  GRTGTPGLPGPPGPMGPPGDRGFTGKDGAMGPRGPPGPPGSPGSPGVTGPSGKPGKPGDH
  GRPGPSGLKGEKGDRGDIASQNMMRAVARQVCEQLISGQMNRFNQMLNQIPNDYQSSRNQ
  PGPPGPPGPPGSAGARGEPGPGGRPGFPGTPGMQGPPGERGLPGEKGERGTGSSGPRGLP
  GPPGPQGESRTGPPGSTGSRGPPGPPGRPGNSGIRGPPGPPGYCDSSQCASIPYNGQGYP
  GSG

• Sequence length: 3063

Pathways

KEGG:

Protein digestion and absorption

Reactome:

Collagen degradation
Collagen biosynthesis and modifying enzymes
Assembly of collagen fibrils and other multimeric structures
Collagen chain trimerization

Associated diseases

Causal Supported by Pathogenic / Likely Pathogenic variants in ClinVar
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Source
Abnormality of connective tissue	Likely pathogenic	rs1582025807	RCV000850300	Warning: Undefined array key "sources" in /var/www/html/new_GgeneT.php on line 1420 Warning: foreach() argument must be of type array|object, null given in /var/www/html/new_GgeneT.php on line 1420
Bethlem myopathy 2	Likely pathogenic; Pathogenic	rs2149352927, rs2149372690, rs2149337320, rs2149369481, rs1266090046, rs2149347624, rs984784417, rs2149373593, rs2149344192, rs2149492561, rs1765881602, rs1766437216, rs2149349312, rs1766404539, rs1178118885, rs779921465, rs875989819, rs796052093, rs796052094, rs2533337643, rs2533072538, rs2533377535, rs2533277541, rs2533265739, rs2533103607, rs2533191041, rs2533032427, rs2533103785, rs34830422, rs1768702301, rs2533377088, rs2533104395, rs1333110706, rs115511838, rs1411117952, rs2533666439, rs2533180988, rs2533199113, rs2533277727, rs2533143581, rs1441030917, rs2533127644, rs2533231035, rs2533264880, rs2533038081, rs2533666320, rs2533401869, rs2533371785, rs2533320611, rs2533320879, rs2533311002, rs1064797326, rs1554182935, rs1366112521, rs1562310723, rs1274606112, rs1582068925, rs1471550984, rs1562223444, rs1582133194, rs1582139761, rs984314526, rs1768358162, rs1767310072, rs1767314344, rs1768495540, rs1768488927, rs1304140510, rs1765909471, rs767845062, rs1768356177, rs1768416586, rs1767268002, rs1473576494	RCV001372379 RCV001378005 RCV001381736 RCV001382528 RCV005225442 RCV001966406 RCV002014265 RCV001982626 RCV001969630 RCV001884972 RCV002037924 RCV001986702 RCV002036271 RCV002227870 RCV002289033 RCV003060061 RCV001852431 RCV000186499 RCV000186500 RCV002770719 RCV002838880 RCV002834998 RCV002847905 RCV002931918 RCV002942873 RCV002958504 RCV002988733 RCV003016506 RCV003030987 RCV003034644 RCV003044705 RCV003234733 RCV003779864 RCV003405018 RCV003786653 RCV003786695 RCV003806111 RCV003806856 RCV003791554 RCV003803712 RCV003804224 RCV003800960 RCV003801400 RCV003807162 RCV003804756 RCV003804822 RCV003801781 RCV003817895 RCV003810184 RCV003810386 RCV003990378 RCV005213301 RCV000551241 RCV005223087 RCV000703266 RCV000701069 RCV000818753 RCV000813936 RCV000817058 RCV000795690 RCV000801561 RCV003768631 RCV001036430 RCV001058328 RCV001067884 RCV001056502 RCV001046111 RCV002226752 RCV002559231 RCV001216731 RCV001209884 RCV001222525 RCV001221494 RCV001235408 RCV001233982	Warning: Undefined array key "sources" in /var/www/html/new_GgeneT.php on line 1420 Warning: foreach() argument must be of type array|object, null given in /var/www/html/new_GgeneT.php on line 1420
COL12A1-related disorder	Likely pathogenic; Pathogenic	rs2533398364, rs1064796670	RCV003399561 RCV003915338	Warning: Undefined array key "sources" in /var/www/html/new_GgeneT.php on line 1420 Warning: foreach() argument must be of type array|object, null given in /var/www/html/new_GgeneT.php on line 1420
Global developmental delay	Likely pathogenic	rs1554168326	RCV001526658	Warning: Undefined array key "sources" in /var/www/html/new_GgeneT.php on line 1420 Warning: foreach() argument must be of type array|object, null given in /var/www/html/new_GgeneT.php on line 1420
Neurodevelopmental disorder	Likely pathogenic	rs2149322991	RCV002277697	Warning: Undefined array key "sources" in /var/www/html/new_GgeneT.php on line 1420 Warning: foreach() argument must be of type array|object, null given in /var/www/html/new_GgeneT.php on line 1420
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs1768495540	RCV005912536	Warning: Undefined array key "sources" in /var/www/html/new_GgeneT.php on line 1420 Warning: foreach() argument must be of type array|object, null given in /var/www/html/new_GgeneT.php on line 1420
Ullrich congenital muscular dystrophy 1A	Likely pathogenic	rs1768416586	RCV001535747	Warning: Undefined array key "sources" in /var/www/html/new_GgeneT.php on line 1420 Warning: foreach() argument must be of type array|object, null given in /var/www/html/new_GgeneT.php on line 1420
Ullrich congenital muscular dystrophy 2	Likely pathogenic; Pathogenic	rs2149352927, rs2149372690, rs2149337320, rs2149369481, rs1266090046, rs2149347624, rs984784417, rs2149373593, rs2149344192, rs2149492561, rs1765881602, rs1766437216, rs2149349312, rs779921465, rs875989819, rs796052093, rs2533337643, rs2533072538, rs2533377535, rs2533277541, rs2533265739, rs2533103607, rs2533191041, rs2533032427, rs2533103785, rs34830422, rs1768702301, rs2533377088, rs1768416586, rs1333110706, rs1769045757, rs115511838, rs1411117952, rs2533666439, rs2533180988, rs2533199113, rs2533277727, rs2533143581, rs1441030917, rs2533127644, rs2533231035, rs2533264880, rs2533038081, rs2533666320, rs2533401869, rs2533371785, rs2533320611, rs2533320879, rs1064797326, rs1554182935, rs1366112521, rs1562310723, rs1274606112, rs1582068925, rs1471550984, rs1562223444, rs1582133194, rs1582139761, rs984314526, rs1582208315, rs1582196903, rs1768358162, rs1767310072, rs1767314344, rs1768495540, rs1304140510, rs1765909471, rs767845062, rs1768356177, rs1767268002, rs1473576494	RCV001372379 RCV001378005 RCV001381736 RCV001382528 RCV005225442 RCV001966406 RCV002014265 RCV001982626 RCV001969630 RCV001884972 RCV002037924 RCV001986702 RCV002036271 RCV003060061 RCV000186498 RCV000664222 RCV002770719 RCV002838880 RCV002834998 RCV002847905 RCV002931918 RCV002942873 RCV002958504 RCV002988733 RCV003016506 RCV003030987 RCV003034644 RCV003044705 RCV003234965 RCV003234966 RCV003314473 RCV003778356 RCV003786653 RCV003786695 RCV003806111 RCV003806856 RCV003791554 RCV003803712 RCV003804224 RCV003800960 RCV003801400 RCV003807162 RCV003804756 RCV003804822 RCV003801781 RCV003817895 RCV003810184 RCV003810386 RCV005213301 RCV000551241 RCV005223087 RCV000703266 RCV000701069 RCV000818753 RCV000813936 RCV000817058 RCV000795690 RCV000801561 RCV000853305 RCV000985045 RCV001007808 RCV001036430 RCV001058328 RCV001067884 RCV001056502 RCV001046111 RCV001194634 RCV001216731 RCV001209884 RCV001222525 RCV001221494 RCV001235408 RCV001233982	Warning: Undefined array key "sources" in /var/www/html/new_GgeneT.php on line 1420 Warning: foreach() argument must be of type array|object, null given in /var/www/html/new_GgeneT.php on line 1420

Unknown Evidence from ClinVar (non-pathogenic) or external databases: GenCC, Orphanet, ClinGen, HPO, DisGeNET, CTD, GWAS Catalog
Phenotype Name	References (PMID)	Source
ALZHEIMER DISEASE	26830138, 40708016	GWAS catalog
ASTHMA	25918132	GWAS catalog
BETHLEM MUSCULAR DYSTROPHY	24334604, 24334769	Orphanet
BETHLEM MYOPATHY	24334769, 24334604	CTD GWAS catalog
BETHLEM MYOPATHY 1	—	Disgenet
CATARACT 16, MULTIPLE TYPE S	—	Disgenet
CENTRAL NERVOUS SYSTEM CANCER	36810956	GWAS catalog
COLOR VISION DISORDER	37359372	GWAS catalog
DEMENTIA	40708016	GWAS catalog
EHLERS-DANLOS SYNDROME	—	CTD
ENDOMETRIOSIS	28881265	GWAS catalog
GLIOBLASTOMA MULTIFORME	36810956	GWAS catalog
GLIOMA	36810956	GWAS catalog
HEREDITARY MOTOR AND SENSORY-NEUROPATHY TYPE II	—	Disgenet
KERATOCONUS	33649486	GWAS catalog
LIVER CIRRHOSIS, EXPERIMENTAL	25380136	CTD
MELANOMA	34290314	GWAS catalog
MESOTHELIOMA, MALIGNANT	25756049	CTD
NEURODEVELOPMENTAL DISORDERS	—	Disgenet
OROFACIAL CLEFT	34689653	GWAS catalog
TREATMENT-RESISTANT HYPERTENSION	38162683	GWAS catalog
ULLRICH CONGENITAL MUSCULAR DYSTROPHY	24334604	Disgenet GWAS catalog Orphanet

Associations from Text Mining
Disease Name	Relationship Type	References
Adenoma	Associate	30175151
Arthritis Rheumatoid	Associate	26191188
Bethlem myopathy	Associate	27348394, 31273343
Bone Neoplasms	Associate	19648885
Breast Neoplasms	Associate	23939832, 38235137
Carcinoma Pancreatic Ductal	Associate	34007003
Cholangiocarcinoma	Associate	36694230
Colorectal Neoplasms	Stimulate	22408128
Colorectal Neoplasms	Associate	26208990, 32323816, 32356618
Connective Tissue Diseases	Associate	27348394
Distal Myopathies	Associate	31509352
Ehlers Danlos Syndrome	Associate	31273343, 33737726
Ehlers Danlos syndrome type 3	Associate	29904178
Erythema elevatum diutinum	Associate	27348394, 38174471
Exanthema	Associate	27272151
Fetal Growth Retardation	Associate	27348394
Fever	Associate	27272151
Fibroma	Associate	19648885
Foot Deformities	Associate	29904178
Graves Ophthalmopathy	Associate	34078122
Hernia	Associate	29904178
Joint Diseases	Associate	27348394
Kidney Neoplasms	Associate	27802793
Lymphoma	Associate	21088137
Muscle Hypotonia	Associate	27348394
Muscle Weakness	Associate	27348394, 31509352
Muscular Diseases	Associate	31273343, 31509352, 38174471
Myotonia Congenita	Associate	27348394
Neoplasm Metastasis	Stimulate	31432110
Neoplasm Metastasis	Associate	37506150
Neoplasms	Associate	22408128, 30175151, 31432110, 32356618, 34723759, 36694230
Neoplasms	Stimulate	37800754
Non Muscle Invasive Bladder Neoplasms	Associate	32391563
Pancreatic Neoplasms	Associate	34517516, 35879877, 37506150
Prostatic Neoplasms	Associate	31746380
Scleroatonic muscular dystrophy	Associate	38174471
Stomach Neoplasms	Associate	30106150, 32293980, 35328635, 37312060, 37800754
Stomach Neoplasms	Stimulate	31432110, 33381592, 36447214
Subungual exostoses	Associate	19648885
Uterine Cervical Neoplasms	Associate	36683048