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Col4a4
Gene Detail
Symbol

Name
ID
Col4a4
collagen, type IV, alpha 4
MGI:104687
Synonyms
[a]4(IV), E130010M05Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 1
42.20 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr1:82448423-82586849 bp, - strand
From VEGA annotation of GRCm38

  138427 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:20071  Vertebrate Homology Class
1 human; 1 mouse; 1 chimpanzee; 1 rhesus macaque; 1 dog

HCOP human homology predictions: COL4A4
Gene Tree: Col4a4

Human
homologs
COL4A4, collagen, type IV, alpha 4
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 1286
neXtProt AC: NX_P53420

Human Synonyms: CA44

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

Disease Associations: (1) Diseases Associated with Human COL4A4

Mutations,
alleles, and
phenotypes
All mutations/alleles(1) : Chemically induced (ENU)(1)
Incidental mutations (data from Mutagenetix , APF )
 
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 moderate sensorineural hearing loss.
 
Human Diseases Modeled in Mice Using Col4a4 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Col4a4 interacts with 157 markers (Mir7b, Mir15b, Mir16-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (12 annotations)
Process glomerular basement membrane development
Component basal lamina, basement membrane, ...
Function extracellular matrix structural constituent
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (16 records)
Data Summary: Results (9)    Tissues (6)    Images (2)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 5
RT-PCR 4
cDNA source data(7)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: ZFIN col4a4    NEW 
Molecular
reagents
All nucleic(9) Genomic(1) cDNA(7) Primer pair(1)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000021695 (Evidence)
Ensembl Gene Model ENSMUSG00000067158 (Evidence)
Entrez Gene 12829 (Evidence)
DFCI TC1612505, TC1588605, TC1632485
DoTS DT.55136103
NIA Mouse Gene Index U021531
Consensus CDS Project CCDS35630.1
International Mouse Phenotyping Consortium Status Col4a4
Sequences
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 sequences
All sequences(35) RefSeq(6) UniProt(3)
Polymorphisms
SNPs within 2kb(972 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:000003337 collagen alpha-4(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:187697 Sasaki M, et al., D-2-hydroxyglutarate produced by mutant IDH1 perturbs collagen maturation and basement membrane function. Genes Dev. 2012 Sep 15;26(18):2038-49
All references(44)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-27050, MGI:2442835

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
06/30/2015
MGI 5.22
The Jackson Laboratory