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Col4a3 Gene Detail
Summary
  • Symbol
    Col4a3
  • Name
    collagen, type IV, alpha 3
  • Synonyms
    alpha3(IV), tumstatin
  • Feature Type
    protein coding gene
  • IDs
    MGI:104688
    NCBI Gene: 12828
  • Gene Overview
    MyGene.info: COL4A3
Location & Maps
more
  • Sequence Map
    Chr1:82586921-82722059 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      135139 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 42.32 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    COL4A3, collagen type IV alpha 3 chain
  • Vertebrate Orthologs
    8
  • Human Ortholog
    COL4A3, collagen type IV alpha 3 chain
    Orthology source: HomoloGene, HGNC
  • Links
    NCBI Gene ID: 1285
    neXtProt AC: NX_Q01955

  • Chr Location
    2q36.3; chr2:227164565-227314792 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Col4a3 mouse models; 3 with human COL4A3 associations

Human Disease Mouse Models
       Alport Syndrome, Autosomal Recessive   OMIM: 203780 View 5 models
       Alport Syndrome, Autosomal Dominant   OMIM: 104200
Hematuria, Benign Familial; BFH   OMIM: 141200
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    13 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    48 phenotypes from 4 alleles in 7 genetic backgrounds
    19 phenotypes from multigenic genotypes
    3 images
    60 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
    9
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Targeted
    7
  • Genomic Mutations
    2 involving Col4a3
  • Incidental Mutations
Homozygotes for targeted null mutations exhibit renal pathology including reduced glomerular filtration, impaired glomerular integrity, and glomerulonephrosis, resulting in uremia, proteinuria, and high mortality in young adults. Auditory thresholds aremildly increased across all test frequencies.
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 OTTMUSG00000021696 VEGA Gene Model | MGI Sequence Detail 135139 C57BL/6J ±  kb
transcript OTTMUST00000051474 VEGA | MGI Sequence Detail 8554 Not Applicable  
polypeptide OTTMUSP00000024235 VEGA | MGI Sequence Detail 1669 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    1116 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 18
    Genomic 1
    cDNA 15
    Primer pair 2

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-27051
References
more
  • Summaries
    All 103
    Developmental Gene Expression 20
    Diseases 13
    Gene Ontology 11
    Phenotypes 60
  • 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:235682 Villacorte M, et al., Thyroid follicle development requires Smad1/5- and endothelial cell-dependent basement membrane assembly. Development. 2016 Jun 1;143(11):1958-70

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory