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Col4a5
Gene Detail
 Symbol
Name
ID
Col4a5
collagen, type IV, alpha 5
MGI:88456
Feature Type protein coding gene
Genetic Map
Chromosome X
62.16 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
ChrX:141475385-141689234 bp, + strand
From VEGA annotation of GRCm38

  213850 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:133559  Vertebrate Homology Class
1 human; 1 mouse; 1 chimpanzee

Gene Tree: Col4a5

Human
homologs
Human Homolog COL4A5, collagen, type IV, alpha 5
NCBI Gene ID 1287
neXtProt AC  NX_P29400
Human Synonyms  ASLN, ATS, CA54
Human Chr (Location)  Xq22; chrX:108439771-108697545 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human COL4A5
Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Targeted(3)
Incidental mutations (data from APF )
 
Heterozygous or hemizygous mutation of this gene results in premature death, proteinuria, elevated blood urea nitrogen, and kidney glomerular and tubular malformations.
 
Human Diseases Modeled Using Mouse Col4a5 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Col4a5 interacts with 255 markers (Mir10a, Mir18, Mir18b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (6 annotations)
Process neuromuscular junction development
Component basal lamina, basement membrane, ...
External Resources: FuncBase
Expression
Literature Summary: (18 records)
Data Summary: Results (233)    Tissues (79)    Images (33)
Theiler Stages: 15, 17, 20, 22, 23, 24, 26
Assay TypeResults
Immunohistochemistry 7
RNA in situ 222
RT-PCR 4
cDNA source data(83)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(84) cDNA(83) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000018954 (Evidence)
Ensembl Gene ModelENSMUSG00000031274 (Evidence)
Entrez Gene12830 (Evidence)
UniGene286892
DFCITC1577046, TC1593664, TC1632980, TC1730919
DoTSDT.101369997, DT.101369999, DT.101737103, DT.102549191
NIA Mouse Gene IndexU043796
Consensus CDS ProjectCCDS41154.1
International Mouse Knockout Project StatusCol4a5
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018954 VEGA Gene Model | MGI Sequence Detail 213850 C57BL/6J ±  kb
transcript OTTMUST00000045528 VEGA | MGI Sequence Detail 6536 Not Applicable 
polypeptide OTTMUSP00000020465 VEGA | MGI Sequence Detail 1691 Not Applicable 

For the selected sequences
All sequences(54) RefSeq(8) UniProt(8)
Polymorphisms SNPs within 2kb(477 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:000003334 collagen alpha-5(IV) chain
References (Earliest) J:20631 Brown SD, et al., Encyclopedia of the mouse genome III. October 1993. Mouse X chromosome. Mamm Genome. 1993;4 Spec No:S269-81
(Latest) J:210414 Gyoneva L, et al., Mechanical response of wild-type and Alport murine lens capsules during osmotic swelling. Exp Eye Res. 2013 Aug;113:87-91
All references(55)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-2070

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
07/23/2014
MGI 5.19
The Jackson Laboratory