Gene

col5a2b

ID
ZDB-GENE-110406-2
Name
collagen, type V, alpha 2b
Symbol
col5a2b Nomenclature History
Previous Names
  • si:rp71-56k2.1
Type
protein_coding_gene
Location
Chr: 6 Mapping Details/Browsers
Description
Predicted to be an extracellular matrix structural constituent. Predicted to be involved in extracellular matrix organization. Predicted to localize to collagen type V trimer and extracellular space. Is expressed in eye. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome and Ehlers-Danlos syndrome classic type 2. Orthologous to human COL5A2 (collagen type V alpha 2 chain).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
2 figures from 2 publications
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 col5a2b Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Ehlers-Danlos syndrome classic type 2 Alliance Ehlers-Danlos syndrome, classic type, 2 130010
Associated With col5a2b Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000885 Fibrillar collagen, C-terminal
Domain IPR001007 VWFC domain
Repeat IPR008160 Collagen triple helix repeat
Domain Details Per Protein
Protein Length Collagen triple helix repeat Fibrillar collagen, C-terminal VWFC domain
UniProtKB:E7FE47 1499
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