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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
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:82564647-82699778 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 42.32 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    4077 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104688
 protein coding gene Chr1:82564642-82699780 (+)
129S1/SvImJ MGP_129S1SvImJ_G0016217
 protein coding gene Chr1:83499096-83643160 (+)
A/J MGP_AJ_G0016200
 protein coding gene Chr1:80534490-80674710 (+)
AKR/J MGP_AKRJ_G0016157
 protein coding gene Chr1:82721041-82868288 (+)
BALB/cJ MGP_BALBcJ_G0016155
 protein coding gene Chr1:80604134-80818419 (+)
C3H/HeJ MGP_C3HHeJ_G0015985
 protein coding gene Chr1:83115064-83254104 (+)
C57BL/6NJ MGP_C57BL6NJ_G0016608
 protein coding gene Chr1:86718767-86869638 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0014328
 protein coding gene Chr1:75764915-75895165 (+)
CAST/EiJ MGP_CASTEiJ_G0015571
 protein coding gene Chr1:82522534-82674934 (+)
CBA/J MGP_CBAJ_G0015959
 protein coding gene Chr1:89493165-89656944 (+)
DBA/2J MGP_DBA2J_G0016060
 protein coding gene Chr1:79827467-79962368 (+)
FVB/NJ MGP_FVBNJ_G0016063
 protein coding gene Chr1:78923403-79058412 (+)
LP/J MGP_LPJ_G0016133
 protein coding gene Chr1:84620808-84758670 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0016083
 protein coding gene Chr1:92900251-93051932 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0016655
 protein coding gene Chr1:82898335-83038841 (+)
PWK/PhJ MGP_PWKPhJ_G0015356
 protein coding gene Chr1:79261566-79403936 (+)
SPRET/EiJ MGP_SPRETEiJ_G0015134
 protein coding gene Chr1:82096325-82237204 (+)
WSB/EiJ MGP_WSBEiJ_G0015631
 protein coding gene Chr1:82691702-82839113 (+)



Homology
more
  • Human Ortholog
    COL4A3, collagen type IV alpha 3 chain
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    COL4A3, collagen type IV alpha 3 chain
  • Synonyms
    ATS2, ATS3, ATS3A, ATS3B, BFH2
  • Links
    NCBI Gene ID: 1285
    neXtProt AC: NX_Q01955
    UniProt: Q01955

  • Chr Location
    2q36.3; chr2:227164624-227314792 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Col4a3 mouse models; 5 with human COL4A3 associations

Human Disease Mouse Models
      
IDs
 View 5 models
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    53 phenotypes from 4 alleles in 7 genetic backgrounds
    22 phenotypes from multigenic genotypes
    3 images
    100 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.
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
less
  • All GO Annotations
    32
  • GO References
    14
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
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
    834
  • Tissues
    93
  • cDNA Data
    16
  • Literature Summary
    31
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12828 NCBI Gene Model | MGI Sequence Detail 135132 C57BL/6J ±  kb
    transcript NM_007734 RefSeq | MGI Sequence Detail 8342 C57BL/6  
    polypeptide Q9QZS0 UniProt | EBI | MGI Sequence Detail 1669 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 22
      Genomic 1
      cDNA 17
      Primer pair 3
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-27051
    References
    more
    • Summaries
      All 173
      Developmental Gene Expression 31
      Diseases 6
      Gene Ontology 14
      Phenotypes 100
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:354275 Duara J, et al., Oxysterol-binding protein-like 7 deficiency leads to ER stress-mediated apoptosis in podocytes and proteinuria. Am J Physiol Renal Physiol. 2024 Sep 1;327(3):F340-F350
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory