Gene

col9a1b

ID
ZDB-GENE-040426-2410
Name
collagen, type IX, alpha 1b
Symbol
col9a1b Nomenclature History
Previous Names
  • col9a1
  • cb339 (1)
  • sb:cb339
  • wu:fa12a12
  • wu:fa12d02
  • wu:fc22c08
  • wu:fc38d08
  • zgc:85892
Type
protein_coding_gene
Location
Chr: 13 Mapping Details/Browsers
Description
Predicted to be involved in growth plate cartilage chondrocyte morphogenesis. Predicted to localize to collagen-containing extracellular matrix and extracellular space. Human ortholog(s) of this gene implicated in Stickler syndrome; multiple epiphyseal dysplasia 6; and osteochondrodysplasia. Is expressed in several structures, including hypochord; immature eye; mesenchyme derived from head mesoderm; notochord; and sensory system. Orthologous to human COL9A1 (collagen type IX alpha 1 chain).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
9 figures from 4 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 col9a1b Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
multiple epiphyseal dysplasia 6 Alliance ?Epiphyseal dysplasia, multiple, 6 614135
Stickler syndrome, type IV 614134
Associated With col9a1b 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:Q6NUV1 568
UniProtKB:B8A4T6 681
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