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Col4a6 Gene Detail
Summary
  • Symbol
    Col4a6
  • Name
    collagen, type IV, alpha 6
  • Feature Type
    protein coding gene
  • IDs
    MGI:2152695
    NCBI Gene: 94216
  • Gene Overview
    MyGene.info: COL4A6
  • Alliance
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:141165403-141474076 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome X, 61.80 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    1318 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2152695
protein coding gene ChrX:141165403-141474076 (-)
129S1/SvImJ MGP_129S1SvImJ_G0036142
protein coding gene ChrX:138633702-138957289 (-)
A/J MGP_AJ_G0036119
protein coding gene ChrX:137998694-138341476 (-)
AKR/J MGP_AKRJ_G0036045
protein coding gene ChrX:142438666-142771030 (-)
BALB/cJ MGP_BALBcJ_G0036110
protein coding gene ChrX:136299041-136622455 (-)
C3H/HeJ MGP_C3HHeJ_G0035818
protein coding gene ChrX:138746155-139074967 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036634
protein coding gene ChrX:142658482-142988203 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033458
protein coding gene ChrX:129680091-129998999 (-)
CAST/EiJ MGP_CASTEiJ_G0035110
protein coding gene ChrX:119462794-119793801 (-)
CBA/J MGP_CBAJ_G0035795
protein coding gene ChrX:147071335-147399735 (-)
DBA/2J MGP_DBA2J_G0035953
protein coding gene ChrX:137126885-137436238 (-)
FVB/NJ MGP_FVBNJ_G0035887
protein coding gene ChrX:136354904-136661060 (-)
LP/J MGP_LPJ_G0036044
protein coding gene ChrX:139569694-139880307 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035923
protein coding gene ChrX:154588718-154957122 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036670
protein coding gene ChrX:137936657-138257582 (-)
PWK/PhJ MGP_PWKPhJ_G0034803
protein coding gene ChrX:116338830-116656257 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034629
protein coding gene ChrX:119973214-120291593 (-)
WSB/EiJ MGP_WSBEiJ_G0035244
protein coding gene ChrX:136370892-136694602 (-)



Homology
more
  • Human Ortholog
    COL4A6, collagen type IV alpha 6 chain
  • Vertebrate Orthologs
    10
  • Human Ortholog
    COL4A6, collagen type IV alpha 6 chain
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CXDELq22.3, DELXq22.3, DFNX6
  • Links
    NCBI Gene ID: 1288
    neXtProt AC: NX_Q14031
    UniProt: Q14031

  • Chr Location
    Xq22.3; chrX:108155607-108439497 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 48050
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: COL4A6
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human COL4A6 associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    3 phenotype references
Male mice hemizygous for a knock-out allele are viable, fertile and healthy with no apparent defects in the topology of neuromuscular junctions in the diaphragm muscle.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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 94216 NCBI Gene Model | MGI Sequence Detail 308674 C57BL/6J ±  kb
transcript NM_053185 RefSeq | MGI Sequence Detail 6648 C57BL/6  
polypeptide NP_444415 RefSeq | MGI Sequence Detail 1691 C57BL/6  
For the selected sequence
Protein
Information
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  • UniProt
    4 Sequences
  • InterPro Domains
    IPR001442 Collagen IV, non-collagenous
    IPR036954 Collagen IV, non-collagenous domain superfamily
    IPR008160 Collagen triple helix repeat
    IPR016187 C-type lectin fold
Molecular
Reagents
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  • All nucleic 62
    cDNA 61
    Primer pair 1

    Microarray probesets 4
Other
Accession IDs
less
MGI:2148035
References
more
  • Summaries
    All 39
    Developmental Gene Expression 12
    Gene Ontology 12
    Phenotypes 3
  • Earliest
    J:58257 Lu W, et al., Insertional mutation of the collagen genes Col4a3 and Col4a4 in a mouse model of Alport syndrome. Genomics. 1999 Oct 15;61(2):113-24
  • Latest
    J:263002 Komori T, et al., Type IV collagen alpha6 chain is a regulator of keratin 10 in keratinization of oral mucosal epithelium. Sci Rep. 2018 Feb 8;8(1):2612

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
11/06/2018
MGI 6.13
The Jackson Laboratory