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Col4a3
Gene Detail
 Symbol
Name
ID
Col4a3
collagen, type IV, alpha 3
MGI:104688
Synonyms alpha3(IV), tumstatin
Feature Type protein coding gene
Genetic Map
Chromosome 1
42.32 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr1:82586921-82722059 bp, + strand
From VEGA annotation of GRCm38

  135139 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:68033  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 chicken

Gene Tree: Col4a3

Human
homologs
Human Homolog COL4A3, collagen, type IV, alpha 3 (Goodpasture antigen)
NCBI Gene ID 1285
neXtProt AC  NX_Q01955
Human Chr (Location)  2q36-q37; chr2:227164565-227314792 (+)  GRCh38
Disease Associations  (3) Diseases Associated with Human COL4A3
Alleles
and
phenotypes
All alleles(6) : Targeted(6)
Incidental mutations (data from Mutagenetix , APF )
 
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 are mildly increased across all test frequencies.
 
Human Diseases Modeled Using Mouse Col4a3 (1)    Alleles Annotated to Human Diseases(2)    Phenotype Images(3)
Gene Ontology
(GO)
classifications
All GO classifications: (18 annotations)
Process activation of cysteine-type endopeptidase activity involved in apoptotic process, cell adhesion, ...
Component basement membrane, collagen trimer, ...
Function extracellular matrix structural constituent, integrin binding
External Resources: FuncBase
Expression
Literature Summary: (18 records)
Data Summary: Results (70)    Tissues (63)    Images (11)
Theiler Stages: 15, 17, 20, 21, 23, 24, 26, 28
Assay TypeResults
Immunohistochemistry 5
RNA in situ 59
RT-PCR 6
cDNA source data(14)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(18) Genomic(1) cDNA(15) Primer pair(2)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000021696 (Evidence)
Ensembl Gene ModelENSMUSG00000079465 (Evidence)
Entrez Gene12828 (Evidence)
UniGene389135
NIA Mouse Gene IndexU000498
Consensus CDS ProjectCCDS35631.1
International Mouse Knockout Project StatusCol4a3
Sequences
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 sequences
All sequences(30) RefSeq(2) UniProt(3)
Polymorphisms SNPs within 2kb(1116 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001442 Collagen IV, non-collagenous
InterPro IPR008160 Collagen triple helix repeat
InterPro IPR016187 C-type lectin fold
Protein Ontology PR:000005715 collagen alpha-3(IV) chain
References (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:207595 Lin X, et al., Feasibility of repairing glomerular basement membrane defects in alport syndrome. J Am Soc Nephrol. 2014 Apr;25(4):687-92
All references(95)
Other
accession IDs
MGD-MRK-27051

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
07/15/2014
MGI 5.18
The Jackson Laboratory