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Col2a1 Gene Detail
Summary
  • Symbol
    Col2a1
  • Name
    collagen, type II, alpha 1
  • Synonyms
    Col2, Col2a, Col2a-1, Del1, Lpk, M100856, Rgsc856
  • Feature Type
    protein coding gene
  • IDs
    MGI:88452
    NCBI Gene: 12824
Location & Maps
more
  • Sequence Map
    Chr15:97975602-98004695 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      29094 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 53.97 cM
  • Mapping Data
    11 experiments
  • Sequence Tags
Homology
more
  • Human Ortholog
    COL2A1, collagen type II alpha 1 chain
  • Vertebrate Orthologs
    10
  • Human Ortholog
    COL2A1, collagen type II alpha 1 chain
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ANFH, AOM, COL11A3, SEDC, STL1
  • Links
    NCBI Gene ID: 1280
    neXtProt AC: NX_P02458

  • Chr Location
    12q13.11; chr12:47972965-48025286 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    4 with Col2a1 mouse models; 16 with human COL2A1 associations

Human Disease Mouse Models
       Achondrogenesis, Type II; ACG2   OMIM: 200610 View 1 model
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type; PLSDT   OMIM: 151210 View 1 model
Spondyloepiphyseal Dysplasia Congenita; SEDC   OMIM: 183900 View 8 models
Stickler Syndrome, Type I, Nonsyndromic Ocular   OMIM: 609508 View 1 model
       Avascular Necrosis of Femoral Head, Primary; ANFH   OMIM: 608805
Collagen, Type II, Alpha-1; COL2A1   OMIM: 120140
Czech Dysplasia   OMIM: 609162
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness;   OMIM: 132450
Kniest Dysplasia   OMIM: 156550
Legg-Calve-Perthes Disease; LCPD   OMIM: 150600
Osteoarthritis with Mild Chondrodysplasia; OSCDP   OMIM: 604864
Otospondylomegaepiphyseal Dysplasia; OSMED   OMIM: 215150
Spondyloepimetaphyseal Dysplasia, Strudwick Type; SEMDSTWK   OMIM: 184250
Spondyloepiphyseal Dysplasia, Stanescu Type; SEDSTN   OMIM: 616583
Spondyloperipheral Dysplasia   OMIM: 271700
Stickler Syndrome, Type I; STL1   OMIM: 108300
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    8 with disease annotations
  • References
    10 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    161 phenotypes from 13 alleles in 17 genetic backgrounds
    28 phenotypes from multigenic genotypes
    5 images
    71 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    25
  • Chemically induced (ENU)
    4
  • Chemically induced (other)
    1
  • Gene trapped
    3
  • Radiation induced
    3
  • Spontaneous
    2
  • Targeted
    8
  • Transgenic
    4
  • Genomic Mutations
    3 involving Col2a1
  • Incidental Mutations
Mutations in this locus affect cartilage development. Homozygotes die perinatally with anomalies such as shortened limbs without epiphiseal growth plates, cleft palate and persistence of notochord. Heterozygotes are dwarfed with reduced cartilage matrix.
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 OTTMUSG00000021708 VEGA Gene Model | MGI Sequence Detail 29094 C57BL/6J ±  kb
transcript OTTMUST00000051504 VEGA | MGI Sequence Detail 5104 Not Applicable  
polypeptide OTTMUSP00000024255 VEGA | MGI Sequence Detail 1487 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    146 from dbSNP Build 142
  • RFLP
Protein
Information
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Molecular
Reagents
less
  • All nucleic 294
    Genomic 10
    cDNA 264
    Primer pair 17
    Other 3

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-2061, MGD-MRK-2062, MGD-MRK-2063, MGD-MRK-8871, MGI:3808757, MGI:3847802
References
more
  • Summaries
    All 583
    Developmental Gene Expression 482
    Diseases 10
    Gene Ontology 35
    Phenotypes 71
  • Earliest
    J:6582 Brown KS, et al., Disproportionate micromelia (Dmm): an incomplete dominant mouse dwarfism with abnormal cartilage matrix. J Embryol Exp Morphol. 1981 Apr;62:165-82
  • Latest
    J:233766 Jiang Q, et al., Cbfb2 Isoform Dominates More Potent Cbfb1 and Is Required for Skeletal Development. J Bone Miner Res. 2016 Jul;31(7):1391-404

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
09/20/2016
MGI 6.05
The Jackson Laboratory