Gene

col9a2

ID
ZDB-GENE-030131-9786
Name
procollagen, type IX, alpha 2
Symbol
col9a2 Nomenclature History
Previous Names
  • cb343 (1)
  • sb:cb343
  • wu:fa12h02
  • wu:fc93e05
  • zgc:100808
Type
protein_coding_gene
Location
Chr: 19 Mapping Details/Browsers
Description
Predicted to have extracellular matrix structural constituent. Predicted to be involved in extracellular matrix organization and skeletal system development. Predicted to localize to cytoplasm; extracellular matrix; and extracellular space. Is expressed in several structures, including axis; head; hypochord; nervous system; and pectoral fin. Human ortholog(s) of this gene implicated in Stickler syndrome; multiple epiphyseal dysplasia 2; and osteochondrodysplasia. Orthologous to human COL9A2 (collagen type IX alpha 2 chain).
Genome Resources
Note
None
Expression
All Expression Data
31 figures from 10 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 col9a2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
multiple epiphyseal dysplasia 2 Alliance Epiphyseal dysplasia, multiple, 2 600204
?Stickler syndrome, type V 614284
Associated With col9a2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Repeat IPR008160 Collagen triple helix repeat
Domain Details Per Protein
Protein Length Collagen triple helix repeat
UniProtKB:Q66L59 691
UniProtKB:Q1LXU2 691
UniProtKB:Q8JGL8 690
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations