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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
    gene page
  • Transcription Start Sites
    26 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:97873483-97902576 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 53.97 cM
  • Mapping Data
    11 experiments
  • Sequence Tags
    D15Mit41, D15Mit43
Strain
Comparison
more
  • SNPs within 2kb
    146 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88452
 protein coding gene Chr15:97873483-97902722 (-)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    COL2A1, collagen type II alpha 1 chain
  • 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
Human Diseases
more
  • Diseases
    4 with Col2a1 mouse models; 21 with human COL2A1 associations

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

  • Mutations/Alleles
    10 with disease annotations
  • References
    11 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    161 phenotypes from 15 alleles in 17 genetic backgrounds
    47 phenotypes from multigenic genotypes
    9 images
    88 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
less
  • All GO Annotations
    67
  • GO References
    42
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 population 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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    2446
  • Tissues
    742
  • cDNA Data
    264
  • Literature Summary
    673
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 368
      Genomic 10
      cDNA 281
      Primer pair 26
      Other 51

      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 835
      Developmental Gene Expression 673
      Diseases 11
      Gene Ontology 42
      Phenotypes 88
    • 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:332099 Maruyama T, et al., GATA3 mediates nonclassical beta-catenin signaling in skeletal cell fate determination and ectopic chondrogenesis. Sci Adv. 2022 Dec 2;8(48):eadd6172
    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)
    Citing These Resources
    Funding Information
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    01/24/2023
    MGI 6.22     		The Jackson Laboratory