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Col6a5 Gene Detail
Summary
  • Symbol
    Col6a5
  • Name
    collagen, type VI, alpha 5
  • Synonyms
    Col6a5, Gm7455
  • Feature Type
    protein coding gene
  • IDs
    MGI:3648134
    NCBI Gene: 665033
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:105733277-105837842 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 57.34 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    3423 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3648134
 protein coding gene Chr9:105733269-105839743 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035218
 protein coding gene Chr9:107607911-107725200 (-)
A/J MGP_AJ_G0035198
 protein coding gene Chr9:103732279-103844206 (-)
AKR/J MGP_AKRJ_G0035130
 protein coding gene Chr9:106317283-106423851 (-)
BALB/cJ MGP_BALBcJ_G0035191
 protein coding gene Chr9:103430841-103535836 (-)
C3H/HeJ MGP_C3HHeJ_G0034901
 protein coding gene Chr9:106722516-106840072 (-)
C57BL/6NJ MGP_C57BL6NJ_G0035711
 protein coding gene Chr9:110579728-110688572 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032609
 protein coding gene Chr9:101243548-101349159 (-)
CAST/EiJ MGP_CASTEiJ_G0034213
 protein coding gene Chr9:106614458-106725681 (-)
CBA/J MGP_CBAJ_G0034870
 protein coding gene Chr9:114455311-114570561 (-)
DBA/2J MGP_DBA2J_G0035031
 protein coding gene Chr9:103203973-103312207 (-)
FVB/NJ MGP_FVBNJ_G0034979
 protein coding gene Chr9:101977038-102083645 (-)
LP/J MGP_LPJ_G0035107
 protein coding gene Chr9:107831313-107920345 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035018
 protein coding gene Chr9:116130855-116238865 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0035733
 protein coding gene Chr9:106570278-106674887 (-)
PWK/PhJ MGP_PWKPhJ_G0033920
 protein coding gene Chr9:103498589-103604145 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033755
 protein coding gene Chr9:106618710-106727049 (-)
WSB/EiJ MGP_WSBEiJ_G0034333
 protein coding gene Chr9:106460214-106568968 (-)



Homology
more
  • Human Ortholog
    COL6A5, collagen type VI alpha 5 chain
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    COL6A5, collagen type VI alpha 5 chain
  • Synonyms
    COL29A1, VWA4
  • Links
    NCBI Gene ID: 256076
    neXtProt AC: NX_A8TX70
    UniProt: A8TX70

  • Chr Location
    3q22.1; chr3:130345516-130484846 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    4 phenotype references
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    8
  • GO References
    6
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
    753
  • Tissues
    28
  • cDNA Data
    8
  • Literature Summary
    6
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000091345 Ensembl Gene Model | MGI Sequence Detail 104566 C57BL/6J ±  kb
transcript ENSMUST00000190193 Ensembl | MGI Sequence Detail 9289 Not Applicable  
polypeptide ENSMUSP00000139398 Ensembl | MGI Sequence Detail 2640 Not Applicable  
For the selected sequence
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000005712 collagen alpha-5(VI) chain
    (term hierarchy)
  • InterPro Domains
    IPR008160 Collagen triple helix repeat
    IPR052229 Collagen VI and Biomineralization Protein PIF
    IPR036465 von Willebrand factor A-like domain superfamily
    IPR002035 von Willebrand factor, type A
  • GlyGen
    A6H584 7 sites, 2 N-linked glycans (3 sites), 1 O-linked glycan (1 site)
Molecular
Reagents
less
  • All nucleic 11
    cDNA 8
    Primer pair 2
    Other 1

    Microarray probesets 3
References
more
  • Summaries
    All 27
    Developmental Gene Expression 6
    Gene Ontology 6
    Phenotypes 4
  • Earliest
    J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
  • Latest
    J:350811 Rasheed AAB, et al., The COL6A5-p.Glu2272* mutation induces chronic itch in mice. Mamm Genome. 2024 Jun;35(2):122-134
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