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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
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:139948399-140257072 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 61.80 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    6492 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:139948399-140257091 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    COL4A6, collagen type IV alpha 6 chain
  • 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
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
    6 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
    15
  • 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
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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
    950
  • Tissues
    37
  • cDNA Data
    61
  • Literature Summary
    12
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000031273 Ensembl Gene Model | MGI Sequence Detail 308674 C57BL/6J ±  kb
transcript ENSMUST00000101205 Ensembl | MGI Sequence Detail 6648 Not Applicable  
polypeptide ENSMUSP00000098765 Ensembl | MGI Sequence Detail 1691 Not Applicable  
For the selected sequence
Protein
Information
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  • UniProt
    4 Sequences
  • InterPro Domains
    IPR050938 Collagen and Collagen-like Structural Proteins
    IPR001442 Collagen IV, non-collagenous
    IPR036954 Collagen IV, non-collagenous domain superfamily
    IPR050149 Collagen superfamily
    IPR008160 Collagen triple helix repeat
    IPR016187 C-type lectin fold
Molecular
Reagents
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  • All nucleic 63
    cDNA 61
    Primer pair 2

    Microarray probesets 4
Other
Accession IDs
less
MGI:2148035
References
more
  • Summaries
    All 39
    Developmental Gene Expression 12
    Gene Ontology 9
    Phenotypes 6
  • 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:304797 Tang S, et al., Lack of collagen alpha6(IV) chain in mice does not cause severe-to-profound hearing loss or cochlear malformation, a distinct phenotype from nonsyndromic hearing loss with COL4A6 missense mutation. PLoS One. 2021;16(4):e0249909
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