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

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic    (Mammalian Orthology)
Comparative Map (Mouse/Human Col4a5 ± 2 cM)

Gene Tree: Col4a5

Human ortholog

COL4A5 collagen, type IV, alpha 5 NCBI Gene ID 1287
Human Synonyms: ASLN, ATS, CA54
Human ChrX:107683154-107940775 bp, + strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human COL4A5 (1)

Alleles and phenotypes

All alleles(2) : Targeted(2)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (6 annotations)

Process	neuromuscular junction development
Component	basal lamina, basement membrane, ...

External Resources: FuncBase

Expression

Literature Summary: (17 records)
Data Summary: Results (208)    Tissues (54)    Images (32)
Theiler Stages: 15, 17, 20, 22, 23, 24, 26

Assay Type	Results
Immunohistochemistry	7
RNA in situ	197
RT-PCR	4

cDNA source data(82)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(83) cDNA(82) Primer pair(1)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000018954 (Evidence)
Ensembl Gene Model	ENSMUSG00000031274 (Evidence)
Entrez Gene	12830 (Evidence)
UniGene	286892
DFCI	TC1577046, TC1593664, TC1632980, TC1730919
DoTS	DT.101369997, DT.101369999, DT.101737103, DT.102549191
NIA Mouse Gene Index	U043796
Consensus CDS Project	CCDS41154.1
International Mouse Knockout Project Status	Col4a5

Sequences

Length	Strain/Species
genomic	OTTMUSG00000018954	VEGA Gene Model | MGI Sequence Detail	213850	C57BL/6J
transcript	OTTMUST00000045528	VEGA | MGI Sequence Detail	6536	Not Applicable
polypeptide	OTTMUSP00000020465	VEGA | MGI Sequence Detail	1691	Not Applicable

All sequences(50) RefSeq(4) UniProt(8)

Polymorphisms

SNPs(444 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:191677 Koga T, et al., Mild electrical stimulation and heat shock ameliorates progressive proteinuria and renal inflammation in mouse model of Alport syndrome. PLoS One. 2012;7(8):e43852
All references(51)

Other accession IDs

MGD-MRK-2070