COL8A2 collagen type VIII alpha 2 chain [Homo sapiens (human)] - Gene

Summary

Official Symbol: COL8A2provided by HGNC
Official Full Name: collagen type VIII alpha 2 chainprovided by HGNC
Primary source: HGNC:HGNC:2216
See related: Ensembl:ENSG00000171812 MIM:120252; AllianceGenome:HGNC:2216
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FECD; PPCD; FECD1; PPCD2
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 Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Expression: Broad expression in placenta (RPKM 6.6), spleen (RPKM 3.6) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p34.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (36095239..36125222, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (35958119..35988102, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (36560840..36590823, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Collagen type VIII alpha 2 chain (COL8A2), an important component of the basement membrane of the corneal endothelium, facilitates the malignant development of glioblastoma cells via inducing EMT.
Title: Collagen type VIII alpha 2 chain (COL8A2), an important component of the basement membrane of the corneal endothelium, facilitates the malignant development of glioblastoma cells via inducing EMT.
COL8A2 Regulates the Fate of Corneal Endothelial Cells.
Title: COL8A2 Regulates the Fate of Corneal Endothelial Cells.
Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy found no evidence for found polymorophisms causing the disease in this specific pedigree.
Title: Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy.
Peripheral, anterior microcystic corneal edema represents a characteristic aspect of the phenotype associated with the p.(Leu450Trp) substitution in COL8A2, in at least 2 of 3 known affected families worldwide.
Title: Distinct Clinical Phenotype of Corneal Dystrophy Predicts the p.(Leu450Trp) Substitution in COL8A2.
No mutations were identified in COL8A2, in neither the late-onset cohort nor the early-onset family, suggesting genetic heterogeneity in this Late-onset Fuchs endothelial corneal dystrophy (FECD) family.
Title: Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy.
mutations in the COL8A2 gene do not contribute to all cases of early-onset early-onset Fuchs' endothelial corneal dystrophy .
Title: Screening of the COL8A2 gene in an Australian family with early-onset Fuchs' endothelial corneal dystrophy.
Variation in the COL8A2, SLC4A11, and ZEB1 genes is present in only a small fraction of African American cases and as such does not appear to significantly contribute to the genetic risk of Fuchs endothelial corneal dystrophy.
Title: Genetic screen of African Americans with Fuchs endothelial corneal dystrophy.
Esophageal transcript profiling identified a distinct subset of genes, including COL8A2, in patients with Eosionophilic esophagitis and inherited connective tissue disorders.
Title: High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders.
Association of central corneal thickness with TCF4 was also significant (p = 6.1x10(-7)), but was abolished with adjustment for FECD grade (p = 0.92).
Title: Differing roles for TCF4 and COL8A2 in central corneal thickness and fuchs endothelial corneal dystrophy.
Single nucleotide polymorphisms in COL8A2 gene is not associated with central corneal thickness in glaucoma.
Title: Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Corneal dystrophy, Fuchs endothelial, 1 MedGen: C1850959 OMIM: 136800 GeneReviews: Not available	Compare labs
Posterior polymorphous corneal dystrophy 2 MedGen: C1852795 OMIM: 609140 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:483905

COL8A2_1661 (e-PCR)
- UniSTS:277121

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables extracellular matrix structural constituent	NAS Non-traceable Author Statement more info	PubMed
enables extracellular matrix structural constituent conferring tensile strength	IBA Inferred from Biological aspect of Ancestor more info
enables extracellular matrix structural constituent conferring tensile strength	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables protein-macromolecule adaptor activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in camera-type eye morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cell-cell adhesion	NAS Non-traceable Author Statement more info	PubMed
involved_in endothelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in extracellular matrix organization	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in basement membrane	NAS Non-traceable Author Statement more info	PubMed
part_of collagen trimer	IEA Inferred from Electronic Annotation more info
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
is_active_in collagen-containing extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in extracellular matrix	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: collagen alpha-2(VIII) chain

Names: collagen VIII, alpha-2 polypeptide; collagen, type VIII, alpha 2; endothelial collagen

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016245.2 RefSeqGene

Range

4863..34846

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001294347.2 → NP_001281276.1 collagen alpha-2(VIII) chain isoform 2

See identical proteins and their annotated locations for NP_001281276.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.

Source sequence(s)

AI084614, AK074129, AL138787, HY025990

Consensus CDS

CCDS72756.1

UniProtKB/TrEMBL

E9PP49

Related

ENSP00000436433.1, ENST00000481785.1

Conserved Domains (2) summary

smart00110
Location:503 → 638

C1Q; Complement component C1q domain

pfam01391
Location:368 → 417

Collagen; Collagen triple helix repeat (20 copies)
NM_005202.4 → NP_005193.1 collagen alpha-2(VIII) chain isoform 1 precursor

See identical proteins and their annotated locations for NP_005193.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AI084614, AK074129, AL138787, HY025990

Consensus CDS

CCDS403.1

UniProtKB/Swiss-Prot

P25067, Q5JV31, Q8TEJ5

Related

ENSP00000380901.1, ENST00000397799.2

Conserved Domains (2) summary

smart00110
Location:568 → 703

C1Q; Complement component C1q domain

pfam01391
Location:433 → 482

Collagen; Collagen triple helix repeat (20 copies)