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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1296
Gene name	Collagen type VIII alpha 2 chain
Gene symbol	COL8A2
Synonyms (NCBI Gene)	FECDFECD1PPCDPPCD2
Chromosome	1
Chromosome location	1p34.3
Summary	This gene encodes the alpha 2 chain of type VIII collagen. This protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in this gene are associated with

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs80358191	G>T	Pathogenic	Missense variant, coding sequence variant
rs80358192	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs727504229	TG>AC	Pathogenic	Coding sequence variant, missense variant

108

Show/Hide all (108)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017982	hsa-miR-335-5p	Microarray	18185580
MIRT022679	hsa-miR-124-3p	Microarray	18668037
MIRT903193	hsa-miR-1263	CLIP-seq
MIRT903194	hsa-miR-1287	CLIP-seq
MIRT903195	hsa-miR-1915	CLIP-seq
MIRT903196	hsa-miR-3125	CLIP-seq
MIRT903197	hsa-miR-3135b	CLIP-seq
MIRT903198	hsa-miR-3151	CLIP-seq
MIRT903199	hsa-miR-3176	CLIP-seq
MIRT903200	hsa-miR-3190	CLIP-seq
MIRT903201	hsa-miR-3202	CLIP-seq
MIRT903202	hsa-miR-3614-5p	CLIP-seq
MIRT903203	hsa-miR-3689d	CLIP-seq
MIRT903204	hsa-miR-3916	CLIP-seq
MIRT903205	hsa-miR-3922-3p	CLIP-seq
MIRT903206	hsa-miR-3943	CLIP-seq
MIRT903207	hsa-miR-4283	CLIP-seq
MIRT903208	hsa-miR-4428	CLIP-seq
MIRT903209	hsa-miR-4481	CLIP-seq
MIRT903210	hsa-miR-4489	CLIP-seq
MIRT903211	hsa-miR-4492	CLIP-seq
MIRT903212	hsa-miR-4498	CLIP-seq
MIRT903213	hsa-miR-4533	CLIP-seq
MIRT903214	hsa-miR-4726-3p	CLIP-seq
MIRT903215	hsa-miR-4728-3p	CLIP-seq
MIRT903216	hsa-miR-4745-5p	CLIP-seq
MIRT903217	hsa-miR-513c	CLIP-seq
MIRT903218	hsa-miR-514b-5p	CLIP-seq
MIRT903219	hsa-miR-597	CLIP-seq
MIRT903220	hsa-miR-624	CLIP-seq
MIRT903221	hsa-miR-635	CLIP-seq
MIRT903222	hsa-miR-668	CLIP-seq
MIRT903223	hsa-miR-671-5p	CLIP-seq
MIRT903224	hsa-miR-762	CLIP-seq
MIRT903193	hsa-miR-1263	CLIP-seq
MIRT1967805	hsa-miR-223	CLIP-seq
MIRT1967806	hsa-miR-3064-3p	CLIP-seq
MIRT903198	hsa-miR-3151	CLIP-seq
MIRT903202	hsa-miR-3614-5p	CLIP-seq
MIRT903207	hsa-miR-4283	CLIP-seq
MIRT1967807	hsa-miR-4300	CLIP-seq
MIRT903209	hsa-miR-4481	CLIP-seq
MIRT903210	hsa-miR-4489	CLIP-seq
MIRT903211	hsa-miR-4492	CLIP-seq
MIRT903212	hsa-miR-4498	CLIP-seq
MIRT1967808	hsa-miR-4502	CLIP-seq
MIRT903216	hsa-miR-4745-5p	CLIP-seq
MIRT1967809	hsa-miR-488	CLIP-seq
MIRT903220	hsa-miR-624	CLIP-seq
MIRT903224	hsa-miR-762	CLIP-seq
MIRT1967810	hsa-miR-920	CLIP-seq
MIRT1967811	hsa-miR-935	CLIP-seq
MIRT903193	hsa-miR-1263	CLIP-seq
MIRT903195	hsa-miR-1915	CLIP-seq
MIRT903196	hsa-miR-3125	CLIP-seq
MIRT903197	hsa-miR-3135b	CLIP-seq
MIRT903198	hsa-miR-3151	CLIP-seq
MIRT903199	hsa-miR-3176	CLIP-seq
MIRT903200	hsa-miR-3190	CLIP-seq
MIRT903201	hsa-miR-3202	CLIP-seq
MIRT903202	hsa-miR-3614-5p	CLIP-seq
MIRT903204	hsa-miR-3916	CLIP-seq
MIRT903205	hsa-miR-3922-3p	CLIP-seq
MIRT903206	hsa-miR-3943	CLIP-seq
MIRT903207	hsa-miR-4283	CLIP-seq
MIRT1967807	hsa-miR-4300	CLIP-seq
MIRT903208	hsa-miR-4428	CLIP-seq
MIRT2203648	hsa-miR-4446-3p	CLIP-seq
MIRT903209	hsa-miR-4481	CLIP-seq
MIRT2203649	hsa-miR-4487	CLIP-seq
MIRT903210	hsa-miR-4489	CLIP-seq
MIRT903211	hsa-miR-4492	CLIP-seq
MIRT903212	hsa-miR-4498	CLIP-seq
MIRT903213	hsa-miR-4533	CLIP-seq
MIRT2203650	hsa-miR-4675	CLIP-seq
MIRT2203651	hsa-miR-4723-5p	CLIP-seq
MIRT903214	hsa-miR-4726-3p	CLIP-seq
MIRT2203652	hsa-miR-4741	CLIP-seq
MIRT903216	hsa-miR-4745-5p	CLIP-seq
MIRT903220	hsa-miR-624	CLIP-seq
MIRT903223	hsa-miR-671-5p	CLIP-seq
MIRT903224	hsa-miR-762	CLIP-seq
MIRT2203653	hsa-miR-765	CLIP-seq
MIRT1967810	hsa-miR-920	CLIP-seq
MIRT2203654	hsa-miR-939	CLIP-seq
MIRT903193	hsa-miR-1263	CLIP-seq
MIRT903198	hsa-miR-3151	CLIP-seq
MIRT903199	hsa-miR-3176	CLIP-seq
MIRT903202	hsa-miR-3614-5p	CLIP-seq
MIRT903205	hsa-miR-3922-3p	CLIP-seq
MIRT903207	hsa-miR-4283	CLIP-seq
MIRT903209	hsa-miR-4481	CLIP-seq
MIRT903210	hsa-miR-4489	CLIP-seq
MIRT903211	hsa-miR-4492	CLIP-seq
MIRT903212	hsa-miR-4498	CLIP-seq
MIRT903216	hsa-miR-4745-5p	CLIP-seq
MIRT903220	hsa-miR-624	CLIP-seq
MIRT903224	hsa-miR-762	CLIP-seq
MIRT2465097	hsa-miR-1225-3p	CLIP-seq
MIRT903197	hsa-miR-3135b	CLIP-seq
MIRT1967807	hsa-miR-4300	CLIP-seq
MIRT2465098	hsa-miR-4323	CLIP-seq
MIRT2203649	hsa-miR-4487	CLIP-seq
MIRT2465099	hsa-miR-4716-3p	CLIP-seq
MIRT2203651	hsa-miR-4723-5p	CLIP-seq
MIRT2203653	hsa-miR-765	CLIP-seq
MIRT1967810	hsa-miR-920	CLIP-seq
MIRT2203654	hsa-miR-939	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0001935	Process	Endothelial cell proliferation	IEA
GO:0005201	Function	Extracellular matrix structural constituent	NAS	2019595
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005591	Component	Collagen type VIII trimer	TAS	9438378
GO:0005604	Component	Basement membrane	IEA
GO:0005604	Component	Basement membrane	NAS	2019595
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	IBA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	20551380, 25037231, 28675934
GO:0030198	Process	Extracellular matrix organization	NAS	2019595
GO:0030674	Function	Protein-macromolecule adaptor activity	NAS	2019595
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	NAS	2019595
GO:0048593	Process	Camera-type eye morphogenesis	IEA
GO:0098609	Process	Cell-cell adhesion	NAS	2019595

MIM	HGNC	e!Ensembl
120252	2216	ENSG00000171812

P25067

Protein name

Collagen alpha-2(VIII) chain (Endothelial collagen)

Protein function

Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also a component of the endothelia of blood vessels. Necessary for migration and proliferation of vascul

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01391	Collagen	120 → 172	Collagen triple helix repeat (20 copies)	Repeat
PF00386	C1q	576 → 700	C1q domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed primarily in the subendothelium of large blood vessels. Also expressed in arterioles and venules in muscle, heart, kidney, spleen, umbilical cord, liver and lung and is also found in connective tissue layers around hair folli

Sequence

MLGTLTPLSSLLLLLLVLVLGCGPRASSGGGAGGAAGYAPVKYIQPMQKGPVGPPFREGK
GQYLEMPLPLLPMDLKGEPGPPGKPGPRGPPGPPGFPGKPGMGKPGLHGQPGPAGPPGFS
RMGKAGPPGLPGKVGPPGQPGLRGEPGIRGDQGLRGPPGPPGLPGPSGITIPGKPGAQGV
PGPPGFQGEPGPQGEPGPPGDRGLKGDNGVGQPGLPGAPGQGGAPGPPGLPGPAGLGKPG
LDGLPGAPGDKGESGPPGVPGPRGEPGAVGPKGPPGVDGVGVPGAAGLPGPQGPSGAKGE
PGTRGPPGLIGPTGYGMPGLPGPKGDRGPAGVPGLLGDRGEPGEDGEPGEQGPQGLGGPP
GLPGSAGLPGRRGPPGPKGEAGPGGPPGVPGIRGDQGPSGLAGKPGVPGERGLPGAHGPP
GPTGPKGEPGFTGRPGGPGVAGALGQKGDLGLPGQPGLRGPSGIPGLQGPAGPIGPQGLP
GLKGEPGLPGPPGEGRAGEPGTAGPTGPPGVPGSPGITGPPGPPGPPGPPGAPGAFDETG
IAGLHLPNGGVEGAVLGKGGKPQFGLGELSAHATPAFTAVLTSPFPASGMPVKFDRTLYN
GHSGYNPATGIFTCPVGGVYYFAYHVHVKGTNVWVALYKNNVPATYTYDEYKKGYLDQAS
GGAVLQLRPNDQVWVQMPSDQANGLYSTEYIHSSFSGFLLCPT

Sequence length

703

Interactions

View interactions

	KEGG		Reactome
	Protein digestion and absorption		Collagen degradation Collagen biosynthesis and modifying enzymes Assembly of collagen fibrils and other multimeric structures Integrin cell surface 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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Corneal dystrophy, Fuchs endothelial, 1	Pathogenic	rs727504229, rs80358191, rs80358192	RCV000154184 RCV000018685 RCV000018687	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Posterior polymorphous corneal dystrophy 2	Pathogenic	rs80358191, rs80358192	RCV000018686 RCV000018688	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	Source	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.
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COL8A2-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY, FUCHS' ENDOTHELIAL, 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FUCHS ENDOTHELIAL CORNEAL DYSTROPHY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FUCHS ENDOTHELIAL DYSTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FUCHS' ENDOTHELIAL DYSTROPHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY CORNEAL DYSTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOCONUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMORPHOUS CORNEAL DYSTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (46)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Atrial Fibrillation	Atrial fibrillation	Pubtator	34332113	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23298258	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chandler syndrome	Chandler Syndrome	BEFREE	11689488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hereditary endothelial dystrophy	Congenital Hereditary Endothelial Dystrophy	BEFREE	12654361		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital keratoglobus	Congenital Keratoglobus	BEFREE	17721297		★★★★★ ★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	23608731		★★★★★ ★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective tissue disease	Pubtator	23608731	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal degeneration	Corneal degeneration	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	BEFREE	15175909, 15851557, 16936088, 20848555, 26989952		★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal dystrophy epithelial basement membrane	Corneal dystrophy	Pubtator	19710953	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal Dystrophy Posterior Polymorphous 1	Posterior polymorphous corneal dystrophy	Pubtator	16252232, 19997581, 20567203	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal dystrophy, Fuchs` endothelial, 1	Corneal Dystrophy	UNIPROT_DG	11689488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal dystrophy, Fuchs` endothelial, 1	Corneal Dystrophy	GENOMICS_ENGLAND_DG	11689488, 18464802		★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal dystrophy, Fuchs` endothelial, 1	Corneal Dystrophy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal dystrophy, Fuchs` endothelial, 1	Corneal Dystrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2	Corneal Dystrophy	UNIPROT_DG	11689488		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2	Corneal Dystrophy	GENOMICS_ENGLAND_DG	11689488		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2	Corneal Dystrophy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2	Corneal Dystrophy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT	CORNEAL ENDOTHELIAL DYSTROPHY	BEFREE	15851557		★★★★★ ★☆☆☆☆ Found in Text Mining only
CORNEAL ENDOTHELIAL DYSTROPHY 2	CORNEAL ENDOTHELIAL DYSTROPHY	BEFREE	11689488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal guttata	Corneal guttata	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	20060954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	17888087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	BEFREE	23608731		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	23608731	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fish-Eye Disease	Fish-Eye Disease	BEFREE	22234156		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	15914606, 16303941		★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	17888087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fuchs endothelial corneal dystrophy	Fuchs Endothelial Dystrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fuchs Endothelial Dystrophy	Fuchs Endothelial Dystrophy	BEFREE	15175909, 15914606, 16303941, 16936088, 18464802, 18502986, 20144242, 22956607, 23110055, 23662738, 24348007, 25007886, 28384203, 30481279		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fuchs Endothelial Dystrophy	Fuchs Endothelial Dystrophy	ORPHANET_DG	18464802		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	17471329, 18502986, 20144242, 23110055, 24348007, 25548511, 27121161, 28384203, 28726551, 31028223	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	BEFREE	21139683		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	25669751	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	21139683, 25669751		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	17721297, 23599324		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver carcinoma	Liver carcinoma	BEFREE	23298258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	34166375	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	33054494	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	20060954	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymorphous corneal dystrophy	Polymorphous corneal dystrophy	ORPHANET_DG	11689488		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polymorphous corneal dystrophy	Polymorphous corneal dystrophy	BEFREE	15384081, 15725882, 15851557, 31194824		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Posterior polymorphous corneal dystrophy	Polymorphous corneal dystrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Diseases	Retinal Diseases	BEFREE	12540964		★★★★★ ★☆☆☆☆ Found in Text Mining only

COL8A2 (collagen type VIII alpha 2 chain)