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Col2a1 Gene Detail
Summary
  • Symbol
    Col2a1
  • Name
    collagen, type II, alpha 1
  • Synonyms
    Col2, Col2a, Col2a-1, Del1, Lpk, M100413, M100856, Rgsc413, Rgsc856
  • Feature Type
    protein coding gene
  • IDs
    MGI:88452
    NCBI Gene: 12824
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:97975602-98004695 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 53.97 cM
  • Mapping Data
    11 experiments
  • Sequence Tags
Strain
Comparison
more
  • SNPs within 2kb
    146 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88452
protein coding gene Chr15:97975602-98004724 (-)
129S1/SvImJ MGP_129S1SvImJ_G0022283
protein coding gene Chr15:99661846-99692566 (-)
A/J MGP_AJ_G0022242
protein coding gene Chr15:95717121-95746211 (-)
AKR/J MGP_AKRJ_G0022217
protein coding gene Chr15:98609453-98638520 (-)
BALB/cJ MGP_BALBcJ_G0022248
protein coding gene Chr15:95942505-95971568 (-)
C3H/HeJ MGP_C3HHeJ_G0022018
protein coding gene Chr15:98679176-98708299 (-)
C57BL/6NJ MGP_C57BL6NJ_G0022693
protein coding gene Chr15:103346233-103375456 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020219
protein coding gene Chr15:91662929-91692380 (-)
CAST/EiJ MGP_CASTEiJ_G0021540
protein coding gene Chr15:99558313-99589589 (-)
CBA/J MGP_CBAJ_G0021985
protein coding gene Chr15:106801715-106837710 (-)
DBA/2J MGP_DBA2J_G0022112
protein coding gene Chr15:95169139-95198847 (-)
FVB/NJ MGP_FVBNJ_G0022091
protein coding gene Chr15:94157641-94186920 (-)
LP/J MGP_LPJ_G0022183
protein coding gene Chr15:99774976-99805456 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022111
protein coding gene Chr15:110917053-110947483 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0022708
protein coding gene Chr15:98761286-98790510 (-)
PWK/PhJ MGP_PWKPhJ_G0021281
protein coding gene Chr15:95272418-95305021 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021115
protein coding gene Chr15:98538242-98568394 (-)
WSB/EiJ MGP_WSBEiJ_G0021589
protein coding gene Chr15:99275311-99305961 (-)



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
    3 with Col2a1 mouse models; 6 with human COL2A1 associations

Human Disease Mouse Models
      
IDs
View 1 model
IDs
View 8 models
      
IDs
View 2 models
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    9 with disease annotations
  • References
    10 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    165 phenotypes from 14 alleles in 17 genetic backgrounds
    28 phenotypes from multigenic genotypes
    9 images
    74 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000022483 Ensembl Gene Model | MGI Sequence Detail 29094 C57BL/6J ±  kb
    transcript ENSMUST00000023123 Ensembl | MGI Sequence Detail 5104 Not Applicable  
    polypeptide ENSMUSP00000023123 Ensembl | MGI Sequence Detail 1487 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 303
      Genomic 10
      cDNA 269
      Primer pair 21
      Other 3

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-2061, MGD-MRK-2062, MGD-MRK-2063, MGD-MRK-8871, MGI:3800690, MGI:3808757, MGI:3847802
    References
    more
    • Summaries
      All 687
      Developmental Gene Expression 546
      Diseases 10
      Gene Ontology 40
      Phenotypes 74
    • 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:265842 Palagano E, et al., Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1. Bone. 2018 Sep;114:125-136

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory