Col4a6
Gene Detail

Symbol Name ID

Col4a6 collagen, type IV, alpha 6 MGI:2152695

Feature Type

protein coding gene

Genetic Map

Chromosome X

61.80 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)

Sequence Map

ChrX:141165403-141474076 bp, - strand From VEGA annotation of GRCm38   308674 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:48050  Vertebrate Homology Class
1 human; 1 mouse; 1 chimpanzee; 1 rhesus macaque; 1 chicken

Gene Tree: Col4a6

Human homologs

Human Homolog		COL4A6, collagen, type IV, alpha 6
NCBI Gene ID		1288
neXtProt AC		NX_Q14031
Human Synonyms		CXDELq22.3, DELXq22.3
Human Chr (Location)		Xq22; chrX:107398837-107682704 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human COL4A6

Alleles and phenotypes

All alleles(2) : Targeted(2)
 

Male mice hemizygous for a knock-out allele are viable, fertile and healthy with no apparent defects in the topology of neuromuscular junctions in the diaphragm muscle.

 

Gene Ontology (GO) classifications

All GO classifications: (6 annotations)

Process	cellular response to amino acid stimulus, extracellular matrix organization
Component	basement membrane, collagen, ...
Function	structural molecule activity

External Resources: FuncBase

Expression

Literature Summary: (9 records)
Data Summary: Results (242)    Tissues (36)    Images (25)
Theiler Stages: 15, 17, 23, 24

Assay Type	Results
Immunohistochemistry	3
RNA in situ	235
RT-PCR	4

cDNA source data(61)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(62) cDNA(61) Primer pair(1)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000018922 (Evidence)
Ensembl Gene Model	ENSMUSG00000031273 (Evidence)
Entrez Gene	94216 (Evidence)
UniGene	155586
DFCI	TC1580716, TC1585535, TC1598073, TC1671622
DoTS	DT.101737109, DT.101737110, DT.525708, DT.94266560, DT.97406098
NIA Mouse Gene Index	U039742
Consensus CDS Project	CCDS41153.1
International Mouse Knockout Project Status	Col4a6

Sequences

Length	Strain/Species
genomic	OTTMUSG00000018922	VEGA Gene Model | MGI Sequence Detail	308674	C57BL/6J
transcript	OTTMUST00000045491	VEGA | MGI Sequence Detail	6648	Not Applicable
polypeptide	OTTMUSP00000020452	VEGA | MGI Sequence Detail	1691	Not Applicable

All sequences(43) RefSeq(2) UniProt(5)

Polymorphisms

SNPs(1240 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:000005717	collagen alpha-6(IV) chain

References

(Earliest) J:58257 Lu W, et al., Insertional mutation of the collagen genes Col4a3 and Col4a4 in a mouse model of Alport syndrome. Genomics. 1999 Oct 15;61(2):113-24
(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(35)

Other accession IDs

MGI:2148035