Gene

col8a2

ID
ZDB-GENE-060503-488
Name
collagen, type VIII, alpha 2
Symbol
col8a2 Nomenclature History
Previous Names
  • si:ch211-197n10.4
Type
protein_coding_gene
Location
Chr: 19 Mapping Details/Browsers
Description
Predicted to be an extracellular matrix structural constituent. Predicted to be involved in extracellular matrix organization. Predicted to localize to extracellular matrix and extracellular space. Human ortholog(s) of this gene implicated in Fuchs' endothelial dystrophy and posterior polymorphous corneal dystrophy 2. Orthologous to human COL8A2 (collagen type VIII alpha 2 chain).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With col8a2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Fuchs' endothelial dystrophy Alliance Corneal dystrophy, Fuchs endothelial, 1 136800
posterior polymorphous corneal dystrophy 2 Alliance Corneal dystrophy, posterior polymorphous 2 609140
Associated With col8a2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001073 C1q domain
Homologous_superfamily IPR008983 Tumour necrosis factor-like domain superfamily
Repeat IPR008160 Collagen triple helix repeat
Domain Details Per Protein
Protein Length C1q domain Collagen triple helix repeat Tumour necrosis factor-like domain superfamily
UniProtKB:Q1LUA9 686
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations