ZFIN is now using GRCz12tu for Genomic Data
Gene

col9a3

ID
ZDB-GENE-030131-9799
Name
collagen, type IX, alpha 3
Symbol
col9a3 Nomenclature History
Previous Names
  • cb367 (1)
  • sb:cb367 (1)
  • si:ch73-162j3.1
  • wu:fa04f01
Type
protein_coding_gene
Location
Chr: 23 Mapping Details/Browsers
Genome Assembly
GRCz12tu
Annotation Status
Current
Description
Predicted to be an extracellular matrix structural constituent conferring tensile strength. Predicted to be located in extracellular region. Predicted to be active in extracellular matrix. Is expressed in several structures, including head mesenchyme; hypochord; mesoderm; notochord; and pectoral fin. Human ortholog(s) of this gene implicated in Stickler syndrome; multiple epiphyseal dysplasia 3; and osteochondrodysplasia. Orthologous to human COL9A3 (collagen type IX alpha 3 chain).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
7 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
1 - 4 of 4
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Sequence Targeting Reagents
No data available
Human Disease
Associated With col9a3 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
multiple epiphyseal dysplasia 3 Alliance Epiphyseal dysplasia, multiple, 3, with or without myopathy 600969
Stickler syndrome, type VI 620022
{Intervertebral disc disease, susceptibility to} 603932
1 - 3 of 3
Associated With col9a3 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR050149 Collagen superfamily
Repeat IPR008160 Collagen triple helix repeat
1 - 2 of 2
Domain Details Per Protein
Protein Additional Resources Length Collagen superfamily Collagen triple helix repeat
UniProtKB:F1R1F1 InterPro 679
1 - 1 of 1
Transcripts
Genome Browsers
Genome Assembly: GRCz11Chromosome: 23
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA col9a3-201 (1) Ensembl 3,113 nt
1 - 1 of 1
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACDKEYP-44B8ZFIN Curated Data
ContainsSNPrs3729220
    ZFIN Curated Data
    ContainsSNPrs3729221
      ZFIN Curated Data
      EncodesESTcb367Thisse et al., 2001
      EncodesESTfa04f01ZFIN Curated Data
      EncodesESTfc03f09
      1 - 6 of 6
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      Sequences
      Genome Browsers
      Genome Assembly: GRCz12tuChromosome: 23
      Orthology
      Comparative Orthology
      Alliance
      Gene Tree
      Ensembl
      Species Symbol Chromosome Accession # Evidence
      HumanCOL9A320
      Amino acid sequence comparison (1)
      Conserved genome location (synteny) (1)
      MouseCol9a32
      Conserved genome location (synteny) (1)
      Amino acid sequence comparison (1)
      Citations
      1 - 7 of 7
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