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Slc45a2
Gene Detail
Symbol

Name
ID
Slc45a2
solute carrier family 45, member 2
MGI:2153040
Synonyms
Aim1, Aim-1, blanc-sale, bls, Dbr, dominant brown, Matp, Oca4
Feature Type
protein coding gene
Genetic Map
Chromosome 15
5.40 cM
Detailed Genetic Map ± 1 cM


Mapping data(31)
Sequence Map
Chr15:11000721-11029233 bp, + strand
From VEGA annotation of GRCm38

  28513 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:9412  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: SLC45A2

Human
homologs
SLC45A2, solute carrier family 45, member 2
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 51151
neXtProt AC: NX_Q9UMX9

Human Synonyms: 1A1, AIM1, MATP, OCA4, SHEP5

Human Chr (Location): 5p13.2; chr5:33944616-33985144 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human SLC45A2

Mutations,
alleles, and
phenotypes
All mutations/alleles(21) : Chemically induced (ENU)(11) Spontaneous(7) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for spontaneous mutations exhibit varied degrees of hypopigmentation of the eyes, skin, and hair, especially the underfur. Eyes are very light at birth but darken with age.
 
Human Diseases Modeled in Mice Using Slc45a2 (1)    Mutations Annotated to Human Diseases (6)    Phenotype Images(2)
Interactions
Slc45a2 interacts with 205 markers (Mir10a, Mir17, Mir20a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (6 annotations)
Process developmental pigmentation, melanin biosynthetic process, ...
Component integral component of membrane, membrane
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (98)    Tissues (15)    Images (53)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 98
cDNA source data(9)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase slc45a2 ; ZFIN slc45a2    NEW 
Molecular
reagents
All nucleic(11) cDNA(9) Primer pair(1) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000026270 (Evidence)
Ensembl Gene Model ENSMUSG00000102823 (Evidence), ENSMUSG00000022243 (Evidence)
Entrez Gene 22293 (Evidence)
UniGene 138278
DFCI TC1577579
DoTS DT.97399037
NIA Mouse Gene Index U016081
Consensus CDS Project CCDS27382.1
International Mouse Phenotyping Consortium Status Slc45a2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000026270 VEGA Gene Model | MGI Sequence Detail 28513 C57BL/6J ±  kb
transcript OTTMUST00000064964 VEGA | MGI Sequence Detail 2983 Not Applicable 
polypeptide OTTMUSP00000032314 VEGA | MGI Sequence Detail 459 Not Applicable 

For the selected sequences
All sequences(40) RefSeq(4) UniProt(4)
Polymorphisms
SNPs within 2kb(271 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR020846 Major facilitator superfamily domain
Protein Ontology PR:000015149 membrane-associated transporter protein
References
(Earliest) J:13420 Dickie MM, Underwhite. Mouse News Lett. 1964;30:30
(Latest) J:222308 Fairfield H, et al., Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Genome Res. 2015 Jul;25(7):948-57
All references(75)
Disease annotation references (4)
Other
accession IDs
MGD-MRK-15377, MGD-MRK-1579, MGD-MRK-8804, MGI:98920

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
07/21/2015
MGI 5.22
The Jackson Laboratory