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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 cattle; 1 dog; 1 chicken

HCOP human homology predictions: COL4A3
Gene Tree: Col4a3

Human
homologs
COL4A3, collagen, type IV, alpha 3 (Goodpasture antigen)
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 1285
neXtProt AC: NX_Q01955

Human Chr (Location): 2q36-q37; chr2:227164565-227314792 (+)  GRCh38.p2

Disease Associations: (3) Diseases Associated with Human COL4A3

Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Targeted(6)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Col4a3 (1)    Mutations Annotated to Human Diseases (2)    Phenotype Images(3)
Interactions
Col4a3 interacts with 383 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (19 records)
Data Summary: Results (70)    Tissues (63)    Images (11)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 5
RNA in situ 59
RT-PCR 6
cDNA source data(14)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: ZFIN col4a3    NEW 
Molecular
reagents
All nucleic(18) Genomic(1) cDNA(15) Primer pair(2)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000021696 (Evidence)
Ensembl Gene Model ENSMUSG00000079465 (Evidence)
Entrez Gene 12828 (Evidence)
UniGene 389135
NIA Mouse Gene Index U000498
Consensus CDS Project CCDS35631.1
International Mouse Phenotyping Consortium Status Col4a3
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:220732 Bae EH, et al., Characterization of the intrarenal Renin-Angiotensin system in experimental alport syndrome. Am J Pathol. 2015 May;185(5):1423-35
All references(100)
Disease annotation references (12)
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
07/28/2015
MGI 5.22
The Jackson Laboratory