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Col9a2 Gene Detail
Summary
  • Symbol
    Col9a2
  • Name
    collagen, type IX, alpha 2
  • Synonyms
    Col9a-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:88466
    NCBI Gene: 12840
Location & Maps
more
  • Sequence Map
    Chr4:121039385-121055322 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      15938 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    COL9A2, collagen type IX alpha 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    COL9A2, collagen type IX alpha 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    DJ39G22.4, EDM2, MED, STL5
  • Links
    NCBI Gene ID: 1298
    neXtProt AC: NX_Q14055

  • Chr Location
    1p33-p32; chr1:40300487-40317690 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with human COL9A2 associations

Human Disease Mouse Models
       Epiphyseal Dysplasia, Multiple, 2; EDM2   OMIM: 600204
Intervertebral Disc Disease; IDD   OMIM: 603932
Stickler Syndrome, Type V; STL5   OMIM: 614284
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    13 phenotype references
  • All Mutations and Alleles
    17
  • Chemically induced (other)
    2
  • Gene trapped
    9
  • Radiation induced
    1
  • Targeted
    5
  • Genomic Mutations
    4 involving Col9a2
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000008902 VEGA Gene Model | MGI Sequence Detail 15938 C57BL/6J ±  kb
transcript OTTMUST00000020226 VEGA | MGI Sequence Detail 2924 Not Applicable  
polypeptide OTTMUSP00000009271 VEGA | MGI Sequence Detail 688 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    165 from dbSNP Build 137
  • PCR
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000005723 collagen alpha-2(IX) chain
  • InterPro Domains
    IPR008160 Collagen triple helix repeat
Molecular
Reagents
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  • All nucleic 57
    Genomic 3
    cDNA 52
    Primer pair 2

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-2084, MGD-MRK-2086, MGI:2140269
References
more
  • Summaries
    All 46
    Developmental Gene Expression 15
    Gene Ontology 2
    Phenotypes 13
  • Earliest
    J:717 Elima K, et al., Specific hybridization probes for mouse alpha 2(IX) and alpha 1(X) collagen mRNAs. Biochim Biophys Acta. 1992 Feb 28;1130(1):78-80
  • Latest
    J:198371 Brachvogel B, et al., Comparative proteomic analysis of normal and collagen IX null mouse cartilage reveals altered extracellular matrix composition and novel components of the collagen IX interactome. J Biol Chem. 2013 May 10;288(19):13481-92

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory