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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
Location & Maps
more
  • Sequence Map
    ChrX:141475385-141689234 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      213850 bp   ±  kb flank

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

  • Chr Location
    Xq22; chrX:108439736-108697545 (+)  GRCh38.p2

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

Human Disease Mouse Models
       Alport Syndrome, X-Linked; ATS   OMIM: 301050 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
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  • Phenotype Summary
    19 phenotypes from 1 allele in 1 genetic background
    10 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    4
  • Targeted
    4
  • Incidental Mutations
    APF
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
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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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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 OTTMUSG00000018954 VEGA Gene Model | MGI Sequence Detail 213850 C57BL/6J ±  kb
transcript OTTMUST00000045528 VEGA | MGI Sequence Detail 6536 Not Applicable  
polypeptide OTTMUSP00000020465 VEGA | MGI Sequence Detail 1691 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    477 from dbSNP Build 137
Protein
Information
less
  • UniProt
    8 Sequences
  • InterPro Domains
    IPR001442 Collagen IV, non-collagenous
    IPR008160 Collagen triple helix repeat
    IPR016187 C-type lectin fold
Molecular
Reagents
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  • All nucleic 84
    cDNA 83
    Primer pair 1

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-2070
References
more
  • Summaries
    All 50
    Developmental Gene Expression 18
    Diseases 2
    Gene Ontology 8
    Phenotypes 10
  • Earliest
    J:20631 Brown SD, et al., Encyclopedia of the mouse genome III. October 1993. Mouse X chromosome. Mamm Genome. 1993;4 Spec No:S269-81
  • Latest
    J:224784 Xiao Q, et al., Minor Type IV Collagen alpha5 Chain Promotes Cancer Progression through Discoidin Domain Receptor-1. PLoS Genet. 2015 May;11(5):e1005249

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
02/02/2016
MGI 6.02
The Jackson Laboratory