Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	131873
Gene name	Collagen type VI alpha 6 chain
Gene symbol	COL6A6
Synonyms (NCBI Gene)	-
Chromosome	3
Chromosome location	3q22.1
Summary	This gene encodes a large protein that contains multiple von Willebrand factor domains and forms a component of the basal lamina of epithelial cells. This protein may regulate epithelial cell-fibronectin interactions. Variation in this gene may be implica

SNP ID	Visualize variation	Clinical significance	Consequence
rs140872639	G>T	Conflicting-interpretations-of-pathogenicity	Stop gained, non coding transcript variant, coding sequence variant
rs1553788733	A>G	Likely-pathogenic	Splice acceptor variant

31 Show/Hide all (31)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018435	hsa-miR-335-5p	Microarray	18185580
MIRT903167	hsa-miR-1298	CLIP-seq
MIRT903168	hsa-miR-1323	CLIP-seq
MIRT903169	hsa-miR-21	CLIP-seq
MIRT903170	hsa-miR-298	CLIP-seq
MIRT903171	hsa-miR-3182	CLIP-seq
MIRT903172	hsa-miR-3198	CLIP-seq
MIRT903173	hsa-miR-4309	CLIP-seq
MIRT903174	hsa-miR-4659a-3p	CLIP-seq
MIRT903175	hsa-miR-4659b-3p	CLIP-seq
MIRT903176	hsa-miR-513a-3p	CLIP-seq
MIRT903177	hsa-miR-548o	CLIP-seq
MIRT903178	hsa-miR-590-5p	CLIP-seq
MIRT1967789	hsa-miR-29a	CLIP-seq
MIRT1967790	hsa-miR-29b	CLIP-seq
MIRT1967791	hsa-miR-29c	CLIP-seq
MIRT1967792	hsa-miR-3545-3p	CLIP-seq
MIRT1967793	hsa-miR-3545-5p	CLIP-seq
MIRT1967794	hsa-miR-3654	CLIP-seq
MIRT1967795	hsa-miR-4433	CLIP-seq
MIRT1967796	hsa-miR-4459	CLIP-seq
MIRT1967797	hsa-miR-4520a-3p	CLIP-seq
MIRT1967798	hsa-miR-4539	CLIP-seq
MIRT1967799	hsa-miR-4638-3p	CLIP-seq
MIRT1967800	hsa-miR-4762-3p	CLIP-seq
MIRT1967801	hsa-miR-4768-3p	CLIP-seq
MIRT2203644	hsa-miR-34a	CLIP-seq
MIRT2203645	hsa-miR-34c-5p	CLIP-seq
MIRT2203646	hsa-miR-449a	CLIP-seq
MIRT2203647	hsa-miR-449b	CLIP-seq
MIRT2386349	hsa-miR-3671	CLIP-seq

10 Show/Hide all (10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005589	Component	Collagen type VI trimer	TAS	23869615
GO:0007155	Process	Cell adhesion	IEA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	25037231, 27559042, 28675934
GO:0030198	Process	Extracellular matrix organization	IBA
GO:0031012	Component	Extracellular matrix	HDA	25037231, 27559042, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IDA	18400749

MIM	HGNC	e!Ensembl
616613	27023	ENSG00000206384

A6NMZ7

Protein name

Collagen alpha-6(VI) chain

Protein function

Collagen VI acts as a cell-binding protein.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00092	VWA	436 → 605	von Willebrand factor type A domain	Domain
PF00092	VWA	622 → 790	von Willebrand factor type A domain	Domain
PF00092	VWA	1000 → 1170	von Willebrand factor type A domain	Domain
PF00092	VWA	809 → 981	von Willebrand factor type A domain	Domain
PF00092	VWA	229 → 402	von Willebrand factor type A domain	Domain
PF00092	VWA	27 → 199	von Willebrand factor type A domain	Domain
PF00092	VWA	1965 → 2146	von Willebrand factor type A domain	Domain
PF00092	VWA	1757 → 1920	von Willebrand factor type A domain	Domain
PF01391	Collagen	1392 → 1450	Collagen triple helix repeat (20 copies)	Repeat

Sequence

MMLLILFLVIICSHISVNQDSGPEYADVVFLVDSSDRLGSKSFPFVKMFITKMISSLPIE
ADKYRVALAQYSDKLHSEFHLSTFKGRSPMLNHLRKNFGFIGGSLQIGKALQEAHRTYFS
APANGRDKKQFPPILVVLASSESEDNVEEASKALRKDGVKIISVGVQKASEENLKAMATS
QFHFNLRTVRDLSMFSQNMTHIIKDVIKYKEGAVDDIFVEACQGPSMADVVFLLDMSING
SEENFDYLKGFLEESVSALDIKENCMRVGLVAYSNETKVINSLSMGINKSEVLQHIQNLS
PRTGKAYTGAAIKKLRKEVFSARNGSRKNQGVPQIAVLVTHRDSEDNVTKAAVNLRREGV
TIFTLGIEGASDTQLEKIASHPAEQYVSKLKTFADLAAHNQTFLKKLRNQITHTVSVFSE
RTETLKSGCVDTEEADIYLLIDGSGSTQATDFHEMKTFLSEVVGMFNIAPHKVRVGAVQY
ADSWDLEFEINKYSNKQDLGKAIENIRQMGGNTNTGAALNFTLSLLQKAKKQRGNKVPCH
LVVLTNGMSKDSILEPANRLREEHIRVYAIGIKEANQTQLREIAGEEKRVYYVHDFDALK
DIRNQVVQEICTEEACKEMKADIMFLVDSSGSIGPENFSKMKTFMKNLVSKSQIGPDRVQ
IGVVQFSDINKEEFQLNRFMSQSDISNAIDQMAHIGQTTLTGSALSFVSQYFSPTKGARP
NIRKFLILITDGEAQDIVKEPAVVLRQEGVIIYSVGVFGSNVTQLEEISGRPEMVFYVEN
FDILQRIEDDLVFGICSPREECKRIEVLDVVFVIDSSGSIDYDEYNIMKDFMIGLVKKAD
VGKNQVRFGALKYADDPEVLFYLDDFGTKLEVISVLQNDQAMGGSTYTAEALGFSDHMFT
EARGSRLNKGVPQVLIVITDGESHDADKLNATAKALRDKGILVLAVGIDGANPVELLAMA
GSSDKYFFVETFGGLKGIFSDVTASVCNSSKVDCEIDKVDLVFLMDGSTSIQPNDFKKMK
EFLASVVQDFDVSLNRVRIGAAQFSDTYHPEFPLGTFIGEKEISFQIENIKQIFGNTHIG
AALREVEHYFRPDMGSRINTGTPQVLLVLTDGQSQDEVAQAAEALRHRGIDIYSVGIGDV
DDQQLIQITGTAEKKLTVHNFDELKKVNKRIVRNICTTAGESNCFVDVVVGFDVSTQEKG
QTLLEGQPWMETYLQDILRAISSLNGVSCEVGTETQVSVAFQVTNAMEKYSPKFEIYSEN
ILNSLKDITVKGPSLLNANLLDSLWDTFQNKSAARGKVVLLFSDGLDDDVEKLEQKSDEL
RKEGLNALITVALDGPADSSDLADLPYIEFGKGFEYRTQLSIGMRELGSRLSKQLVNVAE
RTCCCLFCKCIGGDGTMGDPGPPGKRGPPGFKGSEGYLGEEGIAGERGAPGPVGEQGTKG
CYGTKGPKGNRGLNGQEGEVGENGIDGLNGEQGDNGLPGRKGEKGDEGSQGSPGKRGTPG
DRGAKGLRGDPGAPGVDSSIEGPTGLKGERGRQGRRGWPGPPGTPGSRRKTAAHGRRGHT
GPQGTAGIPGPDGLEGSLGLKGPQGPRGEAGVKGEKGGVGSKGPQGPPGPGGEAGNQGRL
GSQGNKGEPGDLGEKGAVGFPGPRGLQGNDGSPGYGSVGRKGAKGQEGFPGESGPKGEIG
DPGGPGETGLKGARGKMISAGLPGEMGSPGEPGPPGRKGVKGAKGLASFSTCELIQYVRD
RSPGRHGKPECPVHPTELVFALDHSRDVTEQEFERMKEMMAFLVRDIKVRENSCPVGAHI
AILSYNSHARHLVRFSDAYKKSQLLREIETIPYERSSASREIGRAMRFISRNVFKRTLPG
AHTRKIATFFSSGQSADAHSITTAAMEFGALEIIPVVITFSNVPSVRRAFAIDDTGTFQV
IVVPSGADYIPALERLQRCTFCYDVCKPDASCDQARPPPVQSYMDAAFLLDASRNMGSAE
FEDIRAFLGALLDHFEITPEPETSVTGDRVALLSHAPPDFLPNTQKSPVRAEFNLTTYRS
KRLMKRHVHESVKQLNGDAFIGHALQWTLDNVFLSTPNLRRNKVIFVISAGETSHLDGEI
LKKESLRAKCQGYALFVFSLGPIWDDKELEDLASHPLDHHLVQLGRIHKPDHSYGVKFVK
SFINSIRRAINKYPPINLKIKCNRLNSIDPKQPPRPFRSFVPGPLKATLKEDVLQKAKFF
QDKKYLSRVARSGRDDAIQNFMRSTSHTFKNGRMIESAPKQHD

Sequence length

2263

Interactions

View interactions

KEGG Pathway	Reactome Pathway
PI3K-Akt signaling pathway	Collagen degradation
Focal adhesion	Collagen biosynthesis and modifying enzymes
ECM-receptor interaction	Signaling by PDGF
Cytoskeleton in muscle cells	Assembly of collagen fibrils and other multimeric structures
Protein digestion and absorption	Integrin cell surface interactions
Human papillomavirus infection	ECM proteoglycans
	NCAM1 interactions
	Collagen chain trimerization

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (11)
COL6A6-related disorder	Uncertain significance; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MYOPATHY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOMERULONEPHRITIS	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	28604730	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	28604730	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	28604730	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY	—	Disgenet, GenCC Disgenet, GenCC	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	28604730	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (17)
Alzheimer Disease	Alzheimer disease	Pubtator	28125976	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27857161	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone dystrophy	Pubtator	35333290	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	28125976	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	28125976		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	33154504	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	28125976		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30800594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	34757537	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30061226, 31627190		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	27766954	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36189254	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	31627190		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prion Diseases	Prion disease	Pubtator	35333290	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	26321861, 35333290	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35794182	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31713298	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ITGA7	2	["Congenital myopathy","Myopathy"]	4	["Focal adhesion","ECM-receptor interaction","Cytoskeleton in muscle cells","ECM proteoglycans"]	2	["Disgenet (Congenital myopathy)","Disgenet (Myopathy)"]
COL6A1	1	["Myopathy"]	12	["Focal adhesion","ECM-receptor interaction","Cytoskeleton in muscle cells","Protein digestion and absorption","Collagen biosynthesis and modifying enzymes","Collagen degradation","Assembly of collagen fibrils and other multimeric structures","Integrin cell surface interactions","ECM proteoglycans","Collagen chain trimerization","Signaling by PDGF","NCAM1 interactions"]	1	["Disgenet (Myopathy)"]
COL6A2	1	["Myopathy"]	12	["Focal adhesion","ECM-receptor interaction","Cytoskeleton in muscle cells","Protein digestion and absorption","Collagen biosynthesis and modifying enzymes","Collagen degradation","Assembly of collagen fibrils and other multimeric structures","Integrin cell surface interactions","ECM proteoglycans","Collagen chain trimerization","Signaling by PDGF","NCAM1 interactions"]	1	["Disgenet (Myopathy)"]
COL6A3	1	["Myopathy"]	12	["Focal adhesion","ECM-receptor interaction","Cytoskeleton in muscle cells","Protein digestion and absorption","Collagen biosynthesis and modifying enzymes","Collagen degradation","Assembly of collagen fibrils and other multimeric structures","Integrin cell surface interactions","ECM proteoglycans","Collagen chain trimerization","Signaling by PDGF","NCAM1 interactions"]	1	["Disgenet (Myopathy)"]
COL6A5	0	[]	12	["Focal adhesion","ECM-receptor interaction","Cytoskeleton in muscle cells","Protein digestion and absorption","Collagen biosynthesis and modifying enzymes","Collagen degradation","Assembly of collagen fibrils and other multimeric structures","Integrin cell surface interactions","ECM proteoglycans","Collagen chain trimerization","Signaling by PDGF","NCAM1 interactions"]	0	[]

COL6A6 (collagen type VI alpha 6 chain)

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