Gene

col5a2a

ID
ZDB-GENE-030616-13
Name
collagen, type V, alpha 2a
Symbol
col5a2a Nomenclature History
Previous Names
  • col5a2l
  • im:7038599
  • si:by143e18.1
  • si:ch211-198b21.5
  • si:dz167c3.3
  • wu:fa13f03
  • wu:fa98d01
  • wu:fj05e03
Type
protein_coding_gene
Location
Chr: 9 Mapping Details/Browsers
Description
Predicted to have 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 several structures, including epidermis; median fin fold; paraxial mesoderm; pectoral fin; and pharyngeal arch. 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
Expression
All Expression Data
22 figures from 6 publications
Cross-Species Comparison
High Throughput Data
No data available
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 col5a2a 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 col5a2a 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:F1QT86 1521
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Citations