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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
    UniProt: P02458

  • Chr Location
    12q13.11; chr12:47972965-48006212 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 55607
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: COL2A1
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Col2a1 mouse models; 6 with human COL2A1 associations

Human Disease Mouse Models
      
IDs
View 1 model
IDs
View 8 models
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    7 with disease annotations
  • References
    8 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
    9 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
  • Find Mice (IMSR)
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
less
Molecular
Reagents
less
  • All nucleic 296
    Genomic 10
    cDNA 265
    Primer pair 18
    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 624
    Developmental Gene Expression 499
    Diseases 8
    Gene Ontology 35
    Phenotypes 71
  • Earliest
    J:13437 Bangham JW, Hairy ears, Eh. Mouse News Lett. 1965;33:68
  • Latest
    J:239587 Hall MD, et al., Mesoderm-specific Stat3 deletion affects expression of Sox9 yielding Sox9-dependent phenotypes. PLoS Genet. 2017 Feb;13(2):e1006610

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/13/2017
MGI 6.10
The Jackson Laboratory