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Col4a5 Gene Detail
Summary
  • Symbol
    Col4a5
  • Name
    collagen, type IV, alpha 5
  • Feature Type
    protein coding gene
  • IDs
    MGI:88456
    NCBI Gene: 12830
  • Gene Overview
    MyGene.info: COL4A5
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:141475385-141689234 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome X, 62.16 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    471 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88456
protein coding gene ChrX:141475370-141689236 (.)
129S1/SvImJ MGP_129S1SvImJ_G0036143
protein coding gene ChrX:138958598-139180556 (+)
A/J MGP_AJ_G0036120
protein coding gene ChrX:138342785-138571054 (+)
AKR/J MGP_AKRJ_G0036046
protein coding gene ChrX:142772339-142984510 (+)
BALB/cJ MGP_BALBcJ_G0036111
protein coding gene ChrX:136623764-136831237 (+)
C3H/HeJ MGP_C3HHeJ_G0035819
protein coding gene ChrX:139076276-139289301 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036635
protein coding gene ChrX:142989512-143216167 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033459
protein coding gene ChrX:130000314-130211971 (+)
CAST/EiJ MGP_CASTEiJ_G0035111
protein coding gene ChrX:119795110-120022323 (+)
CBA/J MGP_CBAJ_G0035796
protein coding gene ChrX:147401044-147645779 (+)
DBA/2J MGP_DBA2J_G0035954
protein coding gene ChrX:137437547-137653311 (+)
FVB/NJ MGP_FVBNJ_G0035888
protein coding gene ChrX:136662369-136875746 (+)
LP/J MGP_LPJ_G0036045
protein coding gene ChrX:139881616-140097946 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035924
protein coding gene ChrX:154958431-155234397 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036671
protein coding gene ChrX:138258891-138487667 (+)
PWK/PhJ MGP_PWKPhJ_G0034804
protein coding gene ChrX:116657566-116871304 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034630
protein coding gene ChrX:120292909-120531945 (+)
WSB/EiJ MGP_WSBEiJ_G0035245
protein coding gene ChrX:136695911-136905970 (+)



Homology
more
  • Human Ortholog
    COL4A5, collagen type IV alpha 5 chain
  • Vertebrate Orthologs
    3
  • Human Ortholog
    COL4A5, collagen type IV alpha 5 chain
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ASLN, ATS, CA54
  • Links
    NCBI Gene ID: 1287
    neXtProt AC: NX_P29400
    UniProt: P29400

  • Chr Location
    Xq22.3; chrX:108439844-108697545 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Col4a5 mouse models; 1 with human COL4A5 associations

Human Disease Mouse Models
      
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    35 phenotypes from 2 alleles in 2 genetic backgrounds
    13 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Heterozygous or hemizygous mutation of this gene results in premature death, proteinuria, elevated blood urea nitrogen, and kidney glomerular and tubular malformations.
Gene Ontology
(GO)
Classifications
less
  • 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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031274 Ensembl Gene Model | MGI Sequence Detail 213850 C57BL/6J ±  kb
    transcript ENSMUST00000112931 Ensembl | MGI Sequence Detail 6536 Not Applicable  
    polypeptide ENSMUSP00000108553 Ensembl | MGI Sequence Detail 1691 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      8 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
    less
    • All nucleic 86
      cDNA 85
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-2070
    References
    more
    • Summaries
      All 76
      Developmental Gene Expression 22
      Diseases 2
      Gene Ontology 13
      Phenotypes 13
    • Earliest
      J:36890 Saga Y, et al., Mice develop normally without tenascin. Genes Dev. 1992 Oct;6(10):1821-31
    • 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
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    last database update
    11/13/2018
    MGI 6.13
    The Jackson Laboratory