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COL4A4 (collagen type IV alpha 4 chain)

Gene

Collagen type IV alpha 4 chain

COL4A4

ATS2, BFH, CA44

2

2q36.3

This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3` UTR. [provided by RefSeq, Jul 2008]

Show/Hide all(161)

SNP ID	Visualize variation	Clinical significance	Consequence
rs35138315	G>C	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs55978207	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs114969026	T>C	Conflicting-interpretations-of-pathogenicity, benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs121912858	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121912859	G>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs121912860	C>T	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121912861	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs121912862	G>T	Pathogenic	Non coding transcript variant, 3 prime UTR variant, coding sequence variant, intron variant, stop gained, genic downstream transcript variant
rs121912863	G>A	Uncertain-significance, pathogenic	Non coding transcript variant, missense variant, coding sequence variant, intron variant, genic downstream transcript variant
rs141127013	->G	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs181528936	C>T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant, intron variant
rs188655353	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs190148408	G>A,C,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, missense variant
rs201278620	A>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant, genic upstream transcript variant
rs201403066	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs201648982	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs201859109	C>T	Pathogenic, uncertain-significance	Non coding transcript variant, intron variant, missense variant, coding sequence variant, genic upstream transcript variant
rs368404711	C>T	Likely-pathogenic, uncertain-significance	Non coding transcript variant, intron variant, downstream transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs369922627	A>C,G	Pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, intron variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs370474706	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs374815903	C>A,T	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs375450996	C>G	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs533297350	C>T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, intron variant, missense variant, coding sequence variant, genic downstream transcript variant
rs534522842	G>A	Pathogenic-likely-pathogenic	Non coding transcript variant, stop gained, intron variant, coding sequence variant, genic upstream transcript variant
rs548019779	C>G	Likely-pathogenic	Intron variant, non coding transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs548799639	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs569681869	C>G	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs745672795	C>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs747805491	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs748473278	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs749299357	C>T	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, missense variant
rs750345987	C>A,G,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant, genic upstream transcript variant
rs754669149	C>G,T	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs755649235	C>T	Pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, intron variant
rs755927061	A>G,T	Likely-pathogenic	Downstream transcript variant, splice donor variant, genic downstream transcript variant, intron variant
rs755961411	C>G	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs757328549	C>G,T	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, intron variant
rs757688183	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs760795817	C>A	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs762139460	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs766550724	G>A	Likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, intron variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant
rs768003309	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs769783985	C>G,T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs771943519	GAGTAT>-	Likely-pathogenic, uncertain-significance	Inframe deletion, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs772517977	G>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs772699709	C>A,T	Likely-pathogenic, uncertain-significance	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs773081522	CTCCAGGCAAGCCAGGTG>-	Likely-pathogenic	Inframe deletion, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant
rs775926807	C>T	Likely-pathogenic	3 prime UTR variant, missense variant, non coding transcript variant, intron variant, coding sequence variant
rs778043831	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs779930511	C>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs786205548	T>A	Likely-pathogenic	Intron variant
rs786205640	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs869025329	T>G	Pathogenic	Splice acceptor variant, genic upstream transcript variant, intron variant
rs886055729	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs891854419	G>C	Likely-pathogenic	Stop gained, coding sequence variant, intron variant, genic downstream transcript variant, non coding transcript variant
rs926605269	C>A,G,T	Likely-pathogenic	Missense variant, intron variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs937550597	C>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs954701825	C>A,T	Likely-pathogenic	Splice donor variant
rs971779449	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs990679247	TCGATTTCCAGGATCCCC>-	Likely-pathogenic	Genic upstream transcript variant, inframe deletion, intron variant, non coding transcript variant, coding sequence variant
rs1003748020	C>T	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1005389790	C>A,T	Likely-pathogenic	Intron variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1026613471	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, intron variant, genic upstream transcript variant
rs1040287646	C>T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1064796549	C>-	Likely-pathogenic	Splice donor variant, coding sequence variant, non coding transcript variant
rs1158350974	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1162601696	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1189502123	C>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1201925443	C>A,T	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, stop gained, coding sequence variant, missense variant
rs1203564054	TGGTGCTCCAGGCAAGCC>-	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, inframe deletion, coding sequence variant, intron variant
rs1206142672	GGG>-,GG,GGGG	Likely-pathogenic	Non coding transcript variant, inframe deletion, coding sequence variant, genic downstream transcript variant, intron variant, frameshift variant
rs1241404192	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs1271416659	C>T	Likely-pathogenic	Non coding transcript variant, 3 prime UTR variant, intron variant, coding sequence variant, missense variant, genic downstream transcript variant
rs1363277825	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1367906290	C>A,T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, intron variant, stop gained, non coding transcript variant
rs1369097739	T>A,C	Likely-pathogenic	Splice acceptor variant
rs1371408968	C>A,T	Likely-pathogenic	Missense variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant
rs1379525680	C>T	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, missense variant
rs1446915781	C>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1489351299	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1553611876	A>G	Likely-pathogenic	Downstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant, intron variant, non coding transcript variant
rs1553611909	G>AA	Likely-pathogenic	3 prime UTR variant, genic downstream transcript variant, frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1553611947	G>A	Likely-pathogenic	Stop gained, 3 prime UTR variant, genic downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant
rs1553612309	C>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant, missense variant, intron variant, coding sequence variant
rs1553612433	CTCGCATACCGCACAGCGGC>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1553612499	GGCGG>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1553622675	C>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553624029	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553624127	->TGGT	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553625684	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553627655	GTGCTTACCTGA>-	Likely-pathogenic	Splice donor variant, intron variant, non coding transcript variant, coding sequence variant
rs1553639043	C>G	Pathogenic	Splice acceptor variant
rs1553640846	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553641611	GC>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553641728	C>G	Likely-pathogenic	Splice acceptor variant
rs1553643669	->C	Pathogenic, likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553644383	CCA>ACAC	Likely-pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553644402	C>T	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs1553646081	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553658892	GGAACTCCTGGGTGGCCT>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, inframe deletion
rs1553669674	C>A	Pathogenic	Genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1553669704	C>T	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1553676221	ACCACTTGATCCTGGGAGGCCCTGCAGGCCTGGTGCTCCAGGCAAGCCAGGT>-	Pathogenic	Splice donor variant, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant
rs1553676230	C>T	Likely-pathogenic	Splice donor variant, intron variant, genic upstream transcript variant
rs1553681700	C>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant
rs1553681714	T>G	Likely-pathogenic	Genic upstream transcript variant, intron variant, splice acceptor variant
rs1553682895	A>G	Likely-pathogenic	Splice donor variant, intron variant, genic upstream transcript variant
rs1553683192	C>G,T	Likely-pathogenic	Splice donor variant, intron variant, genic upstream transcript variant
rs1553683757	CTGATGTTAACAGCAAATGATGCTTACCCGAGGCCCTGGAAATCCA>-	Pathogenic	Splice donor variant, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant
rs1553688330	CGCCCTGG>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553688335	->T	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553688696	C>A	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1553688712	GCT>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, inframe indel
rs1553690565	C>T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1553690604	->CCCT	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, splice acceptor variant
rs1553696207	A>C	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1553712110	C>G	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1559394354	G>-	Pathogenic	Coding sequence variant, intron variant, 3 prime UTR variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs1559395617	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs1559396675	->AGTA	Pathogenic	Coding sequence variant, intron variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs1559402680	C>T	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs1559406956	->CGTCT	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant, downstream transcript variant, non coding transcript variant, genic downstream transcript variant
rs1559429663	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1559438651	C>A	Pathogenic	Splice acceptor variant
rs1559450594	->GA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1559455617	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1559482299	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs1559493506	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1559500363	GA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1559503562	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1559508134	->TG	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1559515075	A>C	Likely-pathogenic	Splice donor variant
rs1559515185	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1559563141	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1559563525	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1559569975	C>T	Likely-pathogenic	Splice acceptor variant
rs1559590037	C>T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs1559594442	C>A	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs1559606445	AAATCCTTGTGGCCCAG>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, non coding transcript variant, genic upstream transcript variant
rs1559617617	C>T	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs1559620132	C>G	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant, intron variant
rs1559628183	->T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1559631986	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs1559643753	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs1559644463	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, genic upstream transcript variant
rs1559646395	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs1559677146	TC>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1559742015	C>T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs1575696646	CCAG>-	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1575714693	->CAGA	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1575895541	C>GAG	Pathogenic-likely-pathogenic, likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1575895799	->G	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1576129421	G>T	Likely-pathogenic	Stop gained, non coding transcript variant, intron variant, coding sequence variant
rs1576189036	C>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1576207007	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1576238292	T>A	Likely-pathogenic	Splice acceptor variant
rs1576428862	C>-	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1576457876	A>-	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1576486164	->A	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1576571835	->GACGC	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1576812577	AC>TACATCA	Pathogenic	Splice donor variant, genic upstream transcript variant

Show/Hide all(18)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022562	hsa-miR-124-3p	Microarray	18668037
MIRT029341	hsa-miR-26b-5p	Microarray	19088304
MIRT437823	hsa-miR-150-5p	Luciferase reporter assay	23604143
MIRT618296	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT618297	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT618298	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT618299	hsa-miR-1257	HITS-CLIP	23824327
MIRT618300	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT618301	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT618302	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT659414	hsa-miR-4302	HITS-CLIP	23824327
MIRT659415	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT659416	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT659417	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT659418	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT659419	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT659420	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT659421	hsa-miR-548c-3p	HITS-CLIP	23824327

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
LMX1B	Activation	11175791

Show/Hide all(16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005201	Function	Extracellular matrix structural constituent	IBA	21873635
GO:0005201	Function	Extracellular matrix structural constituent	IMP	17942953, 19675380
GO:0005576	Component	Extracellular region	TAS
GO:0005587	Component	Collagen type IV trimer	IBA	21873635
GO:0005587	Component	Collagen type IV trimer	IDA	7523402
GO:0005604	Component	Basement membrane	IBA	21873635
GO:0005604	Component	Basement membrane	IDA	2211832
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	25037231
GO:0030198	Process	Extracellular matrix organization	IBA	21873635
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0031012	Component	Extracellular matrix	IBA	21873635
GO:0032836	Process	Glomerular basement membrane development	IBA	21873635
GO:0032836	Process	Glomerular basement membrane development	IMP	17942953, 19675380
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	25037231

MIM	HGNC	e!Ensembl
120131	2206	ENSG00000081052

Protein

UniProt ID

Protein name

Collagen alpha-4(IV) chain

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.

PDB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01391	Collagen	62 → 121	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	118 → 176	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	181 → 238	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	296 → 360	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	365 → 428	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	400 → 457	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	494 → 559	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	906 → 967	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	969 → 1029	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1015 → 1080	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1082 → 1141	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1133 → 1195	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1196 → 1253	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1313 → 1372	Collagen triple helix repeat (20 copies)	Repeat
PF01413	C4	1466 → 1571	C-terminal tandem repeated domain in type 4 procollagen	Domain
PF01413	C4	1574 → 1688	C-terminal tandem repeated domain in type 4 procollagen	Domain

Sequence

MWSLHIVLMRCSFRLTKSLATGPWSLILILFSVQYVYGSGKKYIGPCGGRDCSVCHCVPE
KGSRGPPGPPGPQGPIGPLGAPGPIGLSGEKGMRGDRGPPGAAGDKGDKGPTGVPGFPGL
DGIPGHPGPPGPRGKPGMSGHNGSRGDPGFPGGRGALGPGGPLGHPGEKGEKGNSVFILG
AVKGIQGDRGDPGLPGLPGSWGAGGPAGPTGYPGEPGLVGPPGQPGRPGLKGNPGVGVKG
QMGDPGEVGQQGSPGPTLLVEPPDFCLYKGEKGIKGIPGMVGLPGPPGRKGESGIGAKGE
KGIPGFPGPRGDPGSYGSPGFPGLKGELGLVGDPGLFGLIGPKGDPGNRGHPGPPGVLVT
PPLPLKGPPGDPGFPGRYGETGDVGPPGPPGLLGRPGEACAGMIGPPGPQGFPGLPGLPG
EAGIPGRPDSAPGKPGKPGSPGLPGAPGLQGLPGSSVIYCSVGNPGPQGIKGKVGPPGGR
GPKGEKGNEGLCACEPGPMGPPGPPGLPGRQGSKGDLGLPGWLGTKGDPGPPGAEGPPGL
PGKHGASGPPGNKGAKGDMVVSRVKGHKGERGPDGPPGFPGQPGSHGRDGHAGEKGDPGP
PGDHEDATPGGKGFPGPLGPPGKAGPVGPPGLGFPGPPGERGHPGVPGHPGVRGPDGLKG
QKGDTISCNVTYPGRHGPPGFDGPPGPKGFPGPQGAPGLSGSDGHKGRPGTPGTAEIPGP
PGFRGDMGDPGFGGEKGSSPVGPPGPPGSPGVNGQKGIPGDPAFGHLGPPGKRGLSGVPG
IKGPRGDPGCPGAEGPAGIPGFLGLKGPKGREGHAGFPGVPGPPGHSCERGAPGIPGQPG
LPGYPGSPGAPGGKGQPGDVGPPGPAGMKGLPGLPGRPGAHGPPGLPGIPGPFGDDGLPG
PPGPKGPRGLPGFPGFPGERGKPGAEGCPGAKGEPGEKGMSGLPGDRGLRGAKGAIGPPG
DEGEMAIISQKGTPGEPGPPGDDGFPGERGDKGTPGMQGRRGEPGRYGPPGFHRGEPGEK
GQPGPPGPPGPPGSTGLRGFIGFPGLPGDQGEPGSPGPPGFSGIDGARGPKGNKGDPASH
FGPPGPKGEPGSPGCPGHFGASGEQGLPGIQGPRGSPGRPGPPGSSGPPGCPGDHGMPGL
RGQPGEMGDPGPRGLQGDPGIPGPPGIKGPSGSPGLNGLHGLKGQKGTKGASGLHDVGPP
GPVGIPGLKGERGDPGSPGISPPGPRGKKGPPGPPGSSGPPGPAGATGRAPKDIPDPGPP
GDQGPPGPDGPRGAPGPPGLPGSVDLLRGEPGDCGLPGPPGPPGPPGPPGYKGFPGCDGK
DGQKGPVGFPGPQGPHGFPGPPGEKGLPGPPGRKGPTGLPGPRGEPGPPADVDDCPRIPG
LPGAPGMRGPEGAMGLPGMRGPSGPGCKGEPGLDGRRGVDGVPGSPGPPGRKGDTGEDGY
PGGPGPPGPIGDPGPKGFGPGYLGGFLLVLHSQTDQEPTCPLGMPRLWTGYSLLYLEGQE
KAHNQDLGLAGSCLPVFSTLPFAYCNIHQVCHYAQRNDRSYWLASAAPLPMMPLSEEAIR
PYVSRCAVCEAPAQAVAVHSQDQSIPPCPQTWRSLWIGYSFLMHTGAGDQGGGQALMSPG
SCLEDFRAAPFLECQGRQGTCHFFANKYSFWLTTVKADLQFSSAPAPDTLKESQAQRQKI
SRCQVCVKYS

Sequence length

1690

Interactions

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