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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
Location &
Maps
more
  • Sequence Map
    Chr15:97873483-97902525 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 53.97 cM
  • Mapping Data
    11 experiments
Strain
Comparison
more
  • SNPs within 2kb
    736 from dbSNP Build 142
  • Strain Annotations
    19
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88452
 protein coding gene Chr15:97873483-97902576 (-)
129S1/SvImJ ENSMUSG00200049494
 protein coding gene Chr15:95059064-95088173 (-)
A/J ENSMUSG00195042742
 protein coding gene Chr15:94905922-94935049 (-)
AKR/J ENSMUSG00220043343
 protein coding gene Chr15:94919577-94948646 (-)
BALB/cJ ENSMUSG00180046211
 protein coding gene Chr15:94848395-94877503 (-)
C3H/HeJ ENSMUSG00175033248
 protein coding gene Chr15:95086176-95115298 (-)
C57BL/6NJ ENSMUSG00215047608
 protein coding gene Chr15:94911284-94940384 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020219
 protein coding gene Chr15:91662929-91692380 (-)
CAST/EiJ ENSTCUG00005043448
 protein coding gene Chr15:94358462-94387714 (-)
CBA/J ENSMUSG00210025260
 protein coding gene Chr15:94879225-94908290 (-)
DBA/2J ENSMUSG00185034777
 protein coding gene Chr15:94918666-94947729 (-)
FVB/NJ ENSMUSG00205042731
 protein coding gene Chr15:94646443-94675540 (-)
JF1/MsJ ENSUMUG00000030064
 protein coding gene Chr15:94408306-94437404 (-)
LP/J ENSMUSG00230035316
 protein coding gene Chr15:98249286-98278350 (-)
NOD/ShiLtJ ENSMUSG00190037294
 protein coding gene Chr15:94925924-94954986 (-)
NZO/HlLtJ ENSMUSG00225041849
 protein coding gene Chr15:98547406-98576492 (-)
PWK/PhJ ENSLUMG00010037404
 protein coding gene Chr15:94569938-94599060 (-)
SPRET/EiJ ENSMSPG00010037311
 protein coding gene Chr15:96373434-96402630 (-)
WSB/EiJ ENSIUOG00005035457
 protein coding gene Chr15:94988101-95017251 (-)



Homology
more
  • Human Ortholog
    COL2A1, collagen type II alpha 1 chain
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    COL2A1, collagen type II alpha 1 chain
  • Synonyms
    ACG2, ANFH, ANFH1, AOM, COL11A3, EDMMD, LCPD, OSCDP, PLSDT, SEDC, SEDSTN, SEMDSTWK, SMDALG, STL1, VPED
  • Links
    NCBI Gene ID: 1280
    UniProt: P02458

  • Chr Location
    12q13.11; chr12:47972967-48006212 (-)  GRCh38
Human Diseases
more
  • Diseases
    4 with Col2a1 mouse models; 22 with human COL2A1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 7 models
      
IDs
 View 1 model
IDs
 View 2 models
      
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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
    180 phenotypes from 16 alleles in 18 genetic backgrounds
    27 phenotypes from multigenic genotypes
    9 images
    91 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.
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
    85
  • GO References
    43
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    3096
  • Tissues
    870
  • cDNA Data
    267
  • Literature Summary
    750
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12824 NCBI Gene Model | MGI Sequence Detail 29043 C57BL/6J ±  kb
    transcript NR_177066 RefSeq | MGI Sequence Detail 5805 ZRU/MplStud  
    polypeptide P28481 UniProt | EBI | MGI Sequence Detail 1487 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 429
      Genomic 10
      cDNA 288
      Primer pair 49
      Other 82
      Antibodies 53

      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 974
      Developmental Gene Expression 750
      Diseases 10
      Gene Ontology 43
      Phenotypes 91
    • 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(1):165-82
    • Latest
      J:390509 Huang BL, et al., A pivotal Wnt antagonist role promoting digit joint specification by constraining Wnt activity. Nat Commun. 2026 May 26;17(1)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/01/2026
    MGI 6.24     		The Jackson Laboratory