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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
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:90694582-90771710 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 45.53 cM
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2648 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88461
 protein coding gene Chr1:90693645-90771710 (-)
129S1/SvImJ MGP_129S1SvImJ_G0016296
 protein coding gene Chr1:92287731-92375902 (-)
A/J MGP_AJ_G0016277
 protein coding gene Chr1:88963258-89042331 (-)
AKR/J MGP_AKRJ_G0016238
 protein coding gene Chr1:91610958-91695258 (-)
BALB/cJ MGP_BALBcJ_G0016233
 protein coding gene Chr1:89137077-89221040 (-)
C3H/HeJ MGP_C3HHeJ_G0016062
 protein coding gene Chr1:91813834-91894111 (-)
C57BL/6NJ MGP_C57BL6NJ_G0016692
 protein coding gene Chr1:95833719-95920221 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014410
 protein coding gene Chr1:83240152-83317810 (-)
CAST/EiJ MGP_CASTEiJ_G0015647
 protein coding gene Chr1:91142967-91230012 (-)
CBA/J MGP_CBAJ_G0016038
 protein coding gene Chr1:98903866-98984228 (-)
DBA/2J MGP_DBA2J_G0016141
 protein coding gene Chr1:88193592-88272301 (-)
FVB/NJ MGP_FVBNJ_G0016140
 protein coding gene Chr1:87215903-87295820 (-)
LP/J MGP_LPJ_G0016212
 protein coding gene Chr1:93426621-93526428 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0016165
 protein coding gene Chr1:102147509-102228641 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0016732
 protein coding gene Chr1:91627251-91712594 (-)
PWK/PhJ MGP_PWKPhJ_G0015431
 protein coding gene Chr1:87591629-87676975 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015214
 protein coding gene Chr1:90555561-90637095 (-)
WSB/EiJ MGP_WSBEiJ_G0015705
 protein coding gene Chr1:91425422-91505777 (-)



Homology
more
  • Human Ortholog
    COL6A3, collagen type VI alpha 3 chain
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    COL6A3, collagen type VI alpha 3 chain
  • Synonyms
    BTHLM1, BTHLM1C, DYT27, UCMD1, UCMD1C
  • Links
    NCBI Gene ID: 1293
    neXtProt AC: NX_P12111
    UniProt: P12111

  • Chr Location
    2q37.3; chr2:237324003-237414328 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Col6a3 mouse models; 10 with human COL6A3 associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 1 model
      
IDs
IDs
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
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    25 phenotypes from 4 alleles in 4 genetic backgrounds
    3 images
    17 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 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
less
  • All GO Annotations
    12
  • GO References
    9
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
    944
  • Tissues
    184
  • cDNA Data
    137
  • Literature Summary
    24
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12835 NCBI Gene Model | MGI Sequence Detail 77129 C57BL/6J ±  kb
    transcript NM_001243008 RefSeq | MGI Sequence Detail 10845 ZRU/MplStud  
    polypeptide NP_001229937 RefSeq | MGI Sequence Detail 3284 ZRU/MplStud  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      12 Sequences
    • Protein Ontology
      PR:000003341 collagen alpha-3(VI) chain
      (term hierarchy)
    • PDB
      4IGI, 4IHK
    • InterPro Domains
      IPR041900 Collagen alpha-3(VI) chain, vWA domain
      IPR008160 Collagen triple helix repeat
      IPR052229 Collagen VI and Biomineralization Protein PIF
      IPR050525 Extracellular Matrix Assembly and Organization
      IPR003961 Fibronectin type III
      IPR036116 Fibronectin type III superfamily
      IPR013783 Immunoglobulin-like fold
      IPR050098 Kunitz-type Serine Protease Inhibitor
      IPR002223 Pancreatic trypsin inhibitor Kunitz domain
      IPR036880 Pancreatic trypsin inhibitor Kunitz domain superfamily
      IPR020901 Proteinase inhibitor I2, Kunitz, conserved site
      IPR036465 von Willebrand factor A-like domain superfamily
      IPR002035 von Willebrand factor, type A
    • GlyGen
      E9PWQ3 10 sites, 6 N-linked glycans (9 sites), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 144
      cDNA 140
      Primer pair 4

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-2075, MGD-MRK-2078, MGI:2138284
    References
    more
    • Summaries
      All 78
      Developmental Gene Expression 24
      Diseases 2
      Gene Ontology 9
      Phenotypes 17
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory