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

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic    (Mammalian Orthology)
Comparative Map (Mouse/Human Col4a3 ± 2 cM)

Gene Tree: Col4a3

Human ortholog

COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) NCBI Gene ID 1285
Human Chr2:228029281-228179508 bp, + strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human COL4A3 (3)

Alleles and phenotypes

All alleles(5) : Targeted(5)
 

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, ...
Function	extracellular matrix structural constituent, integrin binding

External Resources: FuncBase

Expression

Literature Summary: (16 records)
Data Summary: Results (51)    Tissues (44)    Images (10)
Theiler Stages: 15, 17, 20, 21, 24, 26, 28

Assay Type	Results
Immunohistochemistry	5
RNA in situ	40
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 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 Knockout Project Status	Col4a3

Sequences

Length	Strain/Species
genomic	OTTMUSG00000021696	VEGA Gene Model | MGI Sequence Detail	135139	C57BL/6J
transcript	OTTMUST00000051474	VEGA | MGI Sequence Detail	8554	Not Applicable
polypeptide	OTTMUSP00000024235	VEGA | MGI Sequence Detail	1669	Not Applicable

All sequences(27) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(734 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: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:193250 Olaru F, et al., Proteolysis Breaks Tolerance toward Intact alpha345(IV) Collagen, Eliciting Novel Anti-Glomerular Basement Membrane Autoantibodies Specific for alpha345NC1 Hexamers. J Immunol. 2013 Feb 15;190(4):1424-32
All references(85)

Other accession IDs

MGD-MRK-27051