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Col4a4 Gene Detail
Summary
  • Symbol
    Col4a4
  • Name
    collagen, type IV, alpha 4
  • Synonyms
    [a]4(IV), E130010M05Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:104687
    NCBI Gene: 12829
  • Gene Overview
    MyGene.info: COL4A4
Location & Maps
more
  • Sequence Map
    Chr1:82448423-82586849 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      138427 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 42.20 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    COL4A4, collagen type IV alpha 4 chain
  • Vertebrate Orthologs
    5
  • Human Ortholog
    COL4A4, collagen type IV alpha 4 chain
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CA44
  • Links
    NCBI Gene ID: 1286
    neXtProt AC: NX_P53420

  • Chr Location
    2q35-q37; chr2:226967532-227164559 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Col4a4 mouse models; 1 with human COL4A4 associations

Human Disease Mouse Models
       Alport Syndrome, Autosomal Recessive   OMIM: 203780 View 4 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    35 phenotypes from 2 alleles in 5 genetic backgrounds
    7 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
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
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    4
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Spontaneous
    1
  • Genomic Mutations
    2 involving Col4a4
  • Incidental Mutations
Mice homozygous for an ENU-induced mutation develop an early nephritic syndrome associated with uremia, proteinuria, hematuria, leukocyturia, and focal segmental glomerulosclerosis, and die prematurely of kidney failure. Some homozygotes exhibit moderatesensorineural hearing loss.
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
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021695 VEGA Gene Model | MGI Sequence Detail 138427 C57BL/6J ±  kb
transcript OTTMUST00000051472 VEGA | MGI Sequence Detail 10108 Not Applicable  
polypeptide OTTMUSP00000024234 VEGA | MGI Sequence Detail 1682 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    969 from dbSNP Build 142
Protein
Information
less
  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000003337 collagen alpha-4(IV) chain
  • InterPro Domains
    IPR001442 Collagen IV, non-collagenous
    IPR008160 Collagen triple helix repeat
    IPR016187 C-type lectin fold
Molecular
Reagents
less
  • All nucleic 9
    Genomic 1
    cDNA 7
    Primer pair 1

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-27050, MGI:2442835
References
more
  • Summaries
    All 41
    Developmental Gene Expression 16
    Diseases 3
    Gene Ontology 8
    Phenotypes 7
  • Earliest
    J:21122 Miner JH, et al., Collagen IV alpha 3, alpha 4, and alpha 5 chains in rodent basal laminae: sequence, distribution, association with laminins, and developmental switches. J Cell Biol. 1994 Nov;127(3):879-91
  • Latest
    J:223185 Korstanje R, et al., A mouse Col4a4 mutation causing Alport glomerulosclerosis with abnormal collagen alpha3alpha4alpha5(IV) trimers. Kidney Int. 2014 Jun;85(6):1461-8

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
09/20/2016
MGI 6.05
The Jackson Laboratory