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Col6a3 Gene Detail
Summary
  • Symbol
    Col6a3
  • Name
    collagen, type VI, alpha 3
  • Synonyms
    Col6a-3
  • Feature Type
    protein coding gene
  • IDs
    MGI:88461
    NCBI Gene: 12835
  • Gene Overview
    MyGene.info: COL6A3
Location & Maps
more
  • Sequence Map
    Chr1:90766860-90843971 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      77112 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 45.53 cM
  • Mapping Data
    8 experiments
Homology
more
  • Human Ortholog
    COL6A3, collagen type VI alpha 3 chain
  • Vertebrate Orthologs
    10
  • Human Ortholog
    COL6A3, collagen type VI alpha 3 chain
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BTHLM1, DYT27, UCMD1
  • Links
    NCBI Gene ID: 1293
    neXtProt AC: NX_P12111

  • Chr Location
    2q37; chr2:237324012-237414370 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Col6a3 mouse models; 3 with human COL6A3 associations

Human Disease Mouse Models
       Ullrich Congenital Muscular Dystrophy 1; UCMD1   OMIM: 254090 View 1 model
       Bethlem Myopathy 1; BTHLM1   OMIM: 158810
Dystonia 27; DYT27   OMIM: 616411
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    16 phenotypes from 2 alleles in 2 genetic backgrounds
    3 images
    9 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.
  • All Mutations and Alleles
    6
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Radiation induced
    1
  • Targeted
    3
  • Genomic Mutations
    2 involving Col6a3
  • Incidental Mutations
Mice homozygous for a hypomorphic allele exhibit mild myopathy, decreased skeletal muscle weight, increased collagen deposition in muscles, skeletal muscle interstitial fibrosis and abnormal tendon collagen fibril morphology.
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022359 VEGA Gene Model | MGI Sequence Detail 77112 C57BL/6J ±  kb
transcript OTTMUST00000053364 VEGA | MGI Sequence Detail 9001 Not Applicable  
polypeptide OTTMUSP00000062798 VEGA | MGI Sequence Detail 2677 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    840 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 137
    cDNA 137

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-2075, MGD-MRK-2078, MGI:2138284
References
more
  • Summaries
    All 50
    Developmental Gene Expression 17
    Diseases 1
    Gene Ontology 6
    Phenotypes 9
  • Earliest
    J:32332 Chu ML, et al., Characterization of three constituent chains of collagen type VI by peptide sequences and cDNA clones. Eur J Biochem. 1987 Oct 15;168(2):309-17
  • Latest
    J:229828 Soret R, et al., A collagen VI-dependent pathogenic mechanism for Hirschsprung's disease. J Clin Invest. 2015 Dec;125(12):4483-96

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory