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Col1a2 Gene Detail
Summary
  • Symbol
    Col1a2
  • Name
    collagen, type I, alpha 2
  • Synonyms
    Col1a-2, Cola-2, Cola2
  • Feature Type
    protein coding gene
  • IDs
    MGI:88468
    NCBI Gene: 12843
  • Alliance
    gene page
  • Transcription Start Sites
    41 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:4505618-4541543 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 1.81 cM
  • Mapping Data
    21 experiments
Strain
Comparison
more
  • SNPs within 2kb
    770 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    4
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    COL1A2, collagen type I alpha 2 chain
  • Synonyms
    EDSARTH2, EDSCV, OI4
  • Links
    NCBI Gene ID: 1278
    neXtProt AC: NX_P08123
    UniProt: P08123

  • Chr Location
    7q21.3; chr7:94394895-94431227 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Col1a2 mouse models; 10 with human COL1A2 associations

Human Disease Mouse Models
      
IDs
 View 5 models
IDs
 View 2 models
      
IDs
IDs
IDs
IDs
IDs
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
less
  • Phenotype Summary
    51 phenotypes from 4 alleles in 10 genetic backgrounds
    2 images
    90 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.
The tails of mice heterozygous for an ENU-induced mutation at this locus are flexible or rubbery.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    47
  • GO References
    22
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
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
    1281
  • Tissues
    269
  • cDNA Data
    1268
  • Literature Summary
    214
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 ZRU/MplStud  
    polypeptide Q01149 UniProt | EBI | MGI Sequence Detail 1372 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 1299
      Genomic 5
      cDNA 1276
      Primer pair 11
      Other 7

      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 421
      Developmental Gene Expression 214
      Diseases 3
      Gene Ontology 22
      Phenotypes 90
    • 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:355654 Cai S, et al., Single-cell transcriptome and chromatin accessibility mapping of upper lip and primary palate fusion. J Cell Mol Med. 2024 Oct;28(19):e70128
    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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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory