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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 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: COL4A6
Gene Tree: Col4a6

Human
homologs
COL4A6, collagen, type IV, alpha 6
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 1288
neXtProt AC: NX_Q14031

Human Synonyms: CXDELq22.3, DELXq22.3, DFNX6

Human Chr (Location): Xq22; chrX:108155607-108439497 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human COL4A6

Mutations,
alleles, and
phenotypes
All mutations/alleles(2) : Targeted(2)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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.
 
Interactions
Col4a6 interacts with 258 markers (Mir1a-1, Mir1a-2, Mir9-1, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (10 records)
Data Summary: Results (242)    Tissues (36)    Images (25)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 3
RNA in situ 235
RT-PCR 4
cDNA source data(61)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase col4a6 ; ZFIN col4a6    NEW 
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 TC1671622, TC1598073, TC1585535, TC1580716
DoTS DT.101737109, DT.525708, DT.101737110, DT.97406098, DT.94266560
NIA Mouse Gene Index U039742
Consensus CDS Project CCDS41153.1
International Mouse Phenotyping Consortium Status Col4a6
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018922 VEGA Gene Model | MGI Sequence Detail 308674 C57BL/6J ±  kb
transcript OTTMUST00000045491 VEGA | MGI Sequence Detail 6648 Not Applicable 
polypeptide OTTMUSP00000020452 VEGA | MGI Sequence Detail 1691 Not Applicable 

For the selected sequences
All sequences(45) RefSeq(4) UniProt(5)
Polymorphisms
SNPs within 2kb(1327 from dbSNP Build 137)    SNPs within 2kb including multiple locations(1331)
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: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:194489 Chen SR, et al., The wilms tumor gene, wt1, maintains testicular cord integrity by regulating the expression of col4a1 and col4a2. Biol Reprod. 2013;88(3):56
All references(34)
Other
accession IDs
MGI:2148035

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
07/28/2015
MGI 5.22
The Jackson Laboratory