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Col6a2 Gene Detail
Summary
  • Symbol
    Col6a2
  • Name
    collagen, type VI, alpha 2
  • Synonyms
    Col6a-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:88460
    NCBI Gene: 12834
  • Alliance
    gene page
  • Transcription Start Sites
    15 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:76431596-76459464 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 39.32 cM, cytoband B5-C1
  • Mapping Data
    13 experiments
Strain
Comparison
more
  • SNPs within 2kb
    846 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88460
 protein coding gene Chr10:76431590-76459464 (-)
129S1/SvImJ MGP_129S1SvImJ_G0017388
 protein coding gene Chr10:76850728-76879074 (-)
A/J MGP_AJ_G0017365
 protein coding gene Chr10:74190256-74218561 (-)
AKR/J MGP_AKRJ_G0017326
 protein coding gene Chr10:76191175-76220403 (-)
BALB/cJ MGP_BALBcJ_G0017325
 protein coding gene Chr10:74394666-74422658 (-)
C3H/HeJ MGP_C3HHeJ_G0017149
 protein coding gene Chr10:76269675-76301754 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017783
 protein coding gene Chr10:79555945-79585431 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015473
 protein coding gene Chr10:70634369-70662096 (-)
CAST/EiJ MGP_CASTEiJ_G0016719
 protein coding gene Chr10:76587461-76615339 (-)
CBA/J MGP_CBAJ_G0017121
 protein coding gene Chr10:82671634-82702344 (-)
DBA/2J MGP_DBA2J_G0017226
 protein coding gene Chr10:73491802-73519632 (-)
FVB/NJ MGP_FVBNJ_G0017218
 protein coding gene Chr10:72650853-72679071 (-)
LP/J MGP_LPJ_G0017299
 protein coding gene Chr10:77333852-77361086 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017247
 protein coding gene Chr10:84725093-84754799 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0017822
 protein coding gene Chr10:76251307-76278119 (-)
PWK/PhJ MGP_PWKPhJ_G0016503
 protein coding gene Chr10:73339968-73368721 (-)
SPRET/EiJ MGP_SPRETEiJ_G0016286
 protein coding gene Chr10:75474578-75502753 (-)
WSB/EiJ MGP_WSBEiJ_G0016782
 protein coding gene Chr10:76227419-76255032 (-)



Homology
more
  • Human Ortholog
    COL6A2, collagen type VI alpha 2 chain
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    COL6A2, collagen type VI alpha 2 chain
  • Synonyms
    BTHLM1, BTHLM1B, PP3610, UCMD1, UCMD1B
  • Links
    NCBI Gene ID: 1292
    neXtProt AC: NX_P12110
    UniProt: P12110

  • Chr Location
    21q22.3; chr21:46098112-46132848 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with human COL6A2 associations

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

  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    2 phenotypes from 2 alleles in 2 genetic backgrounds
    40 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.
Mice homozygous for an ENU-induced allele exhibit reduced body weight.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    15
  • GO References
    11
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
    1106
  • Tissues
    236
  • cDNA Data
    180
  • Literature Summary
    28
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000020241 Ensembl Gene Model | MGI Sequence Detail 27869 C57BL/6J ±  kb
    transcript ENSMUST00000001181 Ensembl | MGI Sequence Detail 3949 Not Applicable  
    polypeptide ENSMUSP00000001181 Ensembl | MGI Sequence Detail 1034 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000003357 collagen alpha-2(VI) chain
      (term hierarchy)
    • InterPro Domains
      IPR008160 Collagen triple helix repeat
      IPR050525 Extracellular Matrix Assembly and Organization
      IPR036465 von Willebrand factor A-like domain superfamily
      IPR002035 von Willebrand factor, type A
    • GlyGen
      Q02788 7 sites, 5 N-linked glycans (4 sites), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 208
      Genomic 17
      cDNA 185
      Primer pair 4
      Other 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-2074, MGD-MRK-2077
    References
    more
    • Summaries
      All 113
      Developmental Gene Expression 28
      Diseases 2
      Gene Ontology 11
      Phenotypes 40
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:357279 Donovan MG, et al., Multimodal analysis of dysregulated heme metabolism, hypoxic signaling, and stress erythropoiesis in Down syndrome. Cell Rep. 2024 Aug 27;43(8):114599
    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
    11/19/2024
    MGI 6.24     		The Jackson Laboratory