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Col1a2 Gene Detail
Summary
  • Symbol
    Col1a2
  • Name
    collagen, type I, alpha 2
  • Synonyms
    Col1a-2, Cola2, Cola-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:88468
    NCBI Gene: 12843
  • Gene Overview
    MyGene.info: COL1A2
  • Alliance
  • Transcription Start Sites
    21 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:4505618-4541543 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 1.81 cM
  • Mapping Data
    21 experiments
  • Sequence Tag
Strain
Comparison
more
  • SNPs within 2kb
    89 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88468
protein coding gene Chr6:4504814-4541544 (.)
129S1/SvImJ MGP_129S1SvImJ_G0030427
protein coding gene Chr6:1255037-1293568 (+)
A/J MGP_AJ_G0030400
protein coding gene Chr6:1222855-1260221 (+)
AKR/J MGP_AKRJ_G0030327
protein coding gene Chr6:1270259-1308319 (+)
BALB/cJ MGP_BALBcJ_G0030409
protein coding gene Chr6:1220932-1257859 (+)
C3H/HeJ MGP_C3HHeJ_G0030123
protein coding gene Chr6:1248537-1287021 (+)
C57BL/6NJ MGP_C57BL6NJ_G0030864
protein coding gene Chr6:1292781-1333259 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028075
protein coding gene Chr6:983823-1020458 (+)
CAST/EiJ MGP_CASTEiJ_G0029524
protein coding gene Chr6:1228880-1286104 (+)
CBA/J MGP_CBAJ_G0030101
protein coding gene Chr6:1314586-1364647 (+)
DBA/2J MGP_DBA2J_G0030245
protein coding gene Chr6:1200922-1238039 (+)
FVB/NJ MGP_FVBNJ_G0030199
protein coding gene Chr6:1210294-1247090 (+)
LP/J MGP_LPJ_G0030332
protein coding gene Chr6:1249190-1287900 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030235
protein coding gene Chr6:1435915-1478089 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0030894
protein coding gene Chr6:1202124-1240258 (+)
PWK/PhJ MGP_PWKPhJ_G0029239
protein coding gene Chr6:1141857-1179568 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029075
protein coding gene Chr6:1281099-1341328 (+)
WSB/EiJ MGP_WSBEiJ_G0029601
protein coding gene Chr6:1213188-1250337 (+)



Homology
more
  • Human Ortholog
    COL1A2, collagen type I alpha 2 chain
  • Vertebrate Orthologs
    10
  • Human Ortholog
    COL1A2, collagen type I alpha 2 chain
    Orthology source: HomoloGene, HGNC
  • Synonyms
    EDSARTH2, EDSCV, OI4
  • Links
    NCBI Gene ID: 1278
    neXtProt AC: NX_P08123
    UniProt: P08123

  • Chr Location
    7q21.3; chr7:94394561-94431232 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 69
    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: COL1A2
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Col1a2 mouse models; 4 with human COL1A2 associations

Human Disease Mouse Models
      
IDs
View 2 models
      
IDs
View 5 models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    39 phenotypes from 4 alleles in 9 genetic backgrounds
    2 images
    54 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.
The tails of mice heterozygous for an ENU-induced mutation at this locus are flexible or rubbery.
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12843 NCBI Gene Model | MGI Sequence Detail 35926 C57BL/6J ±  kb
    transcript NM_007743 RefSeq | MGI Sequence Detail 5222 C57BL/6  
    polypeptide Q01149 UniProt | EBI | MGI Sequence Detail 1372 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 1286
      Genomic 5
      cDNA 1273
      Primer pair 4
      Other 4

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-13027, MGD-MRK-2060, MGD-MRK-2088, MGD-MRK-2090, MGI:2141374, MGI:2141395
    References
    more
    • Summaries
      All 310
      Developmental Gene Expression 150
      Diseases 3
      Gene Ontology 18
      Phenotypes 54
    • Earliest
      J:7086 Shupp Byrne DE, et al., Assignment of the genes for mouse type I procollagen to chromosome 16 using mouse fibroblast-Chinese hamster somatic cell hybrids. Somatic Cell Genet. 1983 May;9(3):313-31
    • Latest
      J:264144 Eley L, et al., A novel source of arterial valve cells linked to bicuspid aortic valve without raphe in mice. Elife. 2018 Jun 29;7

    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