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 mult... See more...

Aliases for COL8A2 Gene

Aliases for COL8A2 Gene

  • Collagen Type VIII Alpha 2 Chain 2 3 5
  • Collagen, Type VIII, Alpha 2 2 3
  • Collagen Alpha-2(VIII) Chain 3 4
  • Endothelial Collagen 3 4
  • FECD1 2 3
  • PPCD2 2 3
  • PPCD 2 3
  • Collagen VIII, Alpha-2 Polypeptide 3
  • Collagen Type VIII Alpha 2 2
  • COL8A2 5
  • FECD 3

External Ids for COL8A2 Gene

Previous HGNC Symbols for COL8A2 Gene

  • FECD

Previous GeneCards Identifiers for COL8A2 Gene

  • GC01U990028
  • GC01M035616
  • GC01M035987
  • GC01M035988
  • GC01M036229
  • GC01M036333
  • GC01M036563
  • GC01M034677

Summaries for COL8A2 Gene

Entrez Gene Summary for COL8A2 Gene

  • 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]

GeneCards Summary for COL8A2 Gene

COL8A2 (Collagen Type VIII Alpha 2 Chain) is a Protein Coding gene. Diseases associated with COL8A2 include Corneal Dystrophy, Fuchs Endothelial, 1 and Corneal Dystrophy, Posterior Polymorphous, 2. Among its related pathways are Integrin Pathway and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent and protein binding, bridging. An important paralog of this gene is COL8A1.

UniProtKB/Swiss-Prot Summary for COL8A2 Gene

  • Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also component of the endothelia of blood vessels. Necessary for migration and proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of vessel wall integrity and structure, in particular in atherogenesis (By similarity).

Gene Wiki entry for COL8A2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COL8A2 Gene

Genomics for COL8A2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for COL8A2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J036125 Promoter/Enhancer 1.4 EPDnew Ensembl CraniofacialAtlas dbSUPER 604.9 +1.1 1106 2.2 EZH2 RAD51 USF1 ZNF16 GLIS1 ZBTB21 USF2 L3MBTL2 CBFA2T2 COL8A2 MN296805 SFPQ RPL5P4 MAP7D1 piR-40176-001 ADPRS
GH01J036100 Promoter 0.9 EPDnew 612.7 +26.0 25973 0.1 KDM1A CTCF JUND REST ZNF740 ZNF24 HDAC1 CTBP1 HDAC2 ZNF444 COL8A2 CLSPN SNORA63C OSCP1 piR-40176-001 ADPRS MN296805
GH01J036127 Enhancer 0.6 FANTOM5 613 -0.6 -645 0.2 ZSCAN4 PATZ1 ZNF740 KLF9 EGR1 ZBTB10 KDM4B ZFHX2 KLF8 ZNF791 COL8A2 MN296805 MAP7D1 RPL5P4 SFPQ EVA1B THRAP3
GH01J036129 Enhancer 0.6 CraniofacialAtlas 600.7 -1.1 -1093 0.2 HNRNPL ZNF692 ZIC2 ZNF740 EGR1 ZFHX2 NFIA ZNF398 EGR2 GLIS2 COL8A2 MN296805 MAP7D1
GH01J036154 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 49.9 -35.0 -34993 14 ARHGAP35 SP1 GATAD2A CTCF PRDM10 ZNF629 LEF1 IKZF1 SMAD2 KDM1A MAP7D1 SFPQ THRAP3 ZMYM4 RPL5P4 AGO3 EVA1B COL8A2 CSF3R ENSG00000271554
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COL8A2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COL8A2

Top Transcription factor binding sites by QIAGEN in the COL8A2 gene promoter:
  • AREB6
  • ARP-1
  • C/EBPalpha
  • E47
  • Egr-2
  • Hand1
  • HOXA9B
  • Meis-1
  • Meis-1a

Genomic Locations for COL8A2 Gene

Genomic Locations for COL8A2 Gene
chr1:36,095,239-36,126,207
(GRCh38/hg38)
Size:
30,969 bases
Orientation:
Minus strand
chr1:36,560,837-36,590,821
(GRCh37/hg19)
Size:
29,985 bases
Orientation:
Minus strand

Genomic View for COL8A2 Gene

Genes around COL8A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL8A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL8A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL8A2 Gene

Proteins for COL8A2 Gene

  • Protein details for COL8A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P25067-CO8A2_HUMAN
    Recommended name:
    Collagen alpha-2(VIII) chain
    Protein Accession:
    P25067
    Secondary Accessions:
    • Q5JV31
    • Q8TEJ5

    Protein attributes for COL8A2 Gene

    Size:
    703 amino acids
    Molecular mass:
    67244 Da
    Quaternary structure:
    • Homotrimers, or heterotrimers in association with alpha 2(VIII) type collagens. Four homotrimers can form a tetrahedron stabilized by central interacting C-terminal NC1 trimers.
    SequenceCaution:
    • Sequence=BAB84955.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for COL8A2 Gene

Post-translational modifications for COL8A2 Gene

  • Proteolytically cleaved by neutrophil elastase, in vitro.
  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for COL8A2 Gene

Antibody Products

  • Abcam antibodies for COL8A2
  • Boster Bio Antibodies for COL8A2
  • Santa Cruz Biotechnology (SCBT) Antibodies for COL8A2

No data available for DME Specific Peptides for COL8A2 Gene

Domains & Families for COL8A2 Gene

Gene Families for COL8A2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for COL8A2 Gene

InterPro:
Blocks:
  • Collagen triple helix repeat
  • Collagen helix repeat
  • Complement C1q protein
ProtoNet:

Suggested Antigen Peptide Sequences for COL8A2 Gene

GenScript: Design optimal peptide antigens:
  • Endothelial collagen (CO8A2_HUMAN)
  • COL8A2 protein (Q4VAP9_HUMAN)
  • COL8A2 protein (Q4VAQ1_HUMAN)
genes like me logo Genes that share domains with COL8A2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for COL8A2 Gene

Function for COL8A2 Gene

Molecular function for COL8A2 Gene

UniProtKB/Swiss-Prot Function:
Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also component of the endothelia of blood vessels. Necessary for migration and proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of vessel wall integrity and structure, in particular in atherogenesis (By similarity).
UniProtKB/Swiss-Prot Induction:
Some up-regulation in diabetic nephropathy.
GENATLAS Biochemistry:
collagen type VIII,alpha 2,short chain,component of Descemet membrane

Phenotypes From GWAS Catalog for COL8A2 Gene

Gene Ontology (GO) - Molecular Function for COL8A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent NAS 2019595
GO:0005515 protein binding IEA --
GO:0030020 extracellular matrix structural constituent conferring tensile strength RCA 20551380
GO:0030674 protein binding, bridging NAS 2019595
genes like me logo Genes that share ontologies with COL8A2: view
genes like me logo Genes that share phenotypes with COL8A2: view

Human Phenotype Ontology for COL8A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COL8A2 Gene

MGI Knock Outs for COL8A2:

Animal Model Products

CRISPR Products

miRNA for COL8A2 Gene

miRTarBase miRNAs that target COL8A2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL8A2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for COL8A2 Gene

Localization for COL8A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL8A2 Gene

Secreted, extracellular space, extracellular matrix, basement membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COL8A2 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
plasma membrane 2
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COL8A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005581 collagen trimer IEA --
GO:0005604 basement membrane NAS 2019595
GO:0005615 extracellular space IBA 21873635
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with COL8A2: view

Pathways & Interactions for COL8A2 Gene

PathCards logo

SuperPathways for COL8A2 Gene

SuperPathway Contained pathways
1 Collagen chain trimerization
.48
.46
2 Integrin Pathway
.67
.67
.56
.56
.50
.38
3 ERK Signaling
.61
.61
.58
.51
.49
4 Phospholipase-C Pathway
.56
.56
5 Degradation of the extracellular matrix
genes like me logo Genes that share pathways with COL8A2: view

Pathways by source for COL8A2 Gene

15 Qiagen pathways for COL8A2 Gene
  • Blood Coagulation Cascade
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling

Gene Ontology (GO) - Biological Process for COL8A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0007155 cell adhesion IEA --
GO:0030198 extracellular matrix organization NAS,TAS --
GO:0048593 camera-type eye morphogenesis IEA --
GO:0050673 epithelial cell proliferation IEA --
genes like me logo Genes that share ontologies with COL8A2: view

No data available for SIGNOR curated interactions for COL8A2 Gene

Drugs & Compounds for COL8A2 Gene

No Compound Related Data Available

Transcripts for COL8A2 Gene

mRNA/cDNA for COL8A2 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL8A2

Alternative Splicing Database (ASD) splice patterns (SP) for COL8A2 Gene

No ASD Table

Relevant External Links for COL8A2 Gene

GeneLoc Exon Structure for
COL8A2

Expression for COL8A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COL8A2 Gene

mRNA differential expression in normal tissues according to GTEx for COL8A2 Gene

This gene is overexpressed in Artery - Aorta (x6.5) and Artery - Tibial (x4.7).

Protein differential expression in normal tissues from HIPED for COL8A2 Gene

This gene is overexpressed in Bone (37.4) and Heart (29.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for COL8A2 Gene



Protein tissue co-expression partners for COL8A2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COL8A2

SOURCE GeneReport for Unigene cluster for COL8A2 Gene:

Hs.353001

mRNA Expression by UniProt/SwissProt for COL8A2 Gene:

P25067-CO8A2_HUMAN
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 follicles, around nerve bundles in muscle, in the dura of the optic nerve, in cornea and sclera, and in the perichondrium of cartilaginous tissues. In the kidney, expressed in mesangial cells, glomerular endothelial cells, and tubular epithelial cells. Also expressed in mast cells, and in astrocytes during the repair process. Expressed in Descemet's membrane.

Evidence on tissue expression from TISSUES for COL8A2 Gene

  • Spleen(4.3)
  • Eye(3.3)
  • Intestine(2.9)
  • Heart(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COL8A2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
Abdomen:
  • abdominal wall
  • intestine
General:
  • blood vessel
genes like me logo Genes that share expression patterns with COL8A2: view

Orthologs for COL8A2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COL8A2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia COL8A2 30 31
  • 99.53 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia COL8A2 30 31
  • 88.97 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia COL8A2 30 31
  • 88.87 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Col8a2 30 17 31
  • 87.9 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Col8a2 30
  • 86.58 (n)
Oppossum
(Monodelphis domestica)
Mammalia COL8A2 31
  • 83 (a)
OneToOne
Chicken
(Gallus gallus)
Aves COL8A2 30 31
  • 72.98 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia COL8A2 31
  • 76 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia col8a2 30
  • 64.65 (n)
Zebrafish
(Danio rerio)
Actinopterygii col8a2 30 31
  • 64.12 (n)
OneToOne
Species where no ortholog for COL8A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for COL8A2 Gene

ENSEMBL:
Gene Tree for COL8A2 (if available)
TreeFam:
Gene Tree for COL8A2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COL8A2: view image

Paralogs for COL8A2 Gene

(13) SIMAP similar genes for COL8A2 Gene using alignment to 8 proteins:

  • CO8A2_HUMAN
  • E9PP49_HUMAN
  • Q4VAP9_HUMAN
  • Q4VAQ0_HUMAN
  • Q4VAQ1_HUMAN
  • R9UH34_HUMAN
  • R9UH47_HUMAN
  • R9UJ55_HUMAN
genes like me logo Genes that share paralogs with COL8A2: view

Variants for COL8A2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COL8A2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
724661 Likely Benign: not provided 36,099,042(-) G/A SYNONYMOUS_VARIANT
771113 Benign: not provided 36,097,935(-) G/A SYNONYMOUS_VARIANT
785936 Benign: not provided 36,098,874(-) C/T SYNONYMOUS_VARIANT
rs145553904 Corneal dystrophy, Fuchs endothelial, 1 (FECD1) [MIM:136800] p.Pro575Leu
rs199786966 Corneal dystrophy, Fuchs endothelial, 1 (FECD1) [MIM:136800] p.Gly357Arg

Additional dbSNP identifiers (rs#s) for COL8A2 Gene

Structural Variations from Database of Genomic Variants (DGV) for COL8A2 Gene

Variant ID Type Subtype PubMed ID
esv2670923 CNV deletion 23128226
esv3332926 CNV insertion 20981092
nsv471895 CNV novel sequence insertion 20440878
nsv545992 CNV loss 21841781
nsv834691 CNV loss 17160897

Variation tolerance for COL8A2 Gene

Residual Variation Intolerance Score: 31.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.33; 70.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COL8A2 Gene

Human Gene Mutation Database (HGMD)
COL8A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COL8A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL8A2 Gene

Disorders for COL8A2 Gene

MalaCards: The human disease database

(38) MalaCards diseases for COL8A2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CO8A2_HUMAN
  • Corneal dystrophy, Fuchs endothelial, 1 (FECD1) [MIM:136800]: A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. {ECO:0000269 PubMed:11689488}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Corneal dystrophy, posterior polymorphous, 2 (PPCD2) [MIM:609140]: A rare mild subtype of posterior corneal dystrophy characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. Affected patient typically are asymptomatic. {ECO:0000269 PubMed:11689488}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for COL8A2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with COL8A2: view

No data available for Genatlas for COL8A2 Gene

Publications for COL8A2 Gene

  1. Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. (PMID: 11689488) Biswas S … Black GC (Human molecular genetics 2001) 2 3 4 23
  2. Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India. (PMID: 20144242) Hemadevi B … Sundaresan P (BMC ophthalmology 2010) 3 23 41
  3. Keratoconus is not associated with mutations in COL8A1 and COL8A2. (PMID: 17721297) Aldave AJ … Sonmez B (Cornea 2007) 3 23 41
  4. Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy. (PMID: 15175909) Kobayashi A … Kanai A (Japanese journal of ophthalmology 2004) 3 4 23
  5. Distribution of COL8A2 and COL8A1 gene variants in Caucasian primary open angle glaucoma patients with thin central corneal thickness. (PMID: 21139683) Desronvil T … Wiggs JL (Molecular vision 2010) 3 41

Products for COL8A2 Gene

Sources for COL8A2 Gene