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Aliases for SLC45A2 Gene

Aliases for SLC45A2 Gene

  • Solute Carrier Family 45, Member 2 2 3
  • MATP 3 4 6
  • AIM1 3 4 6
  • Melanoma Antigen AIM1 3 4
  • Protein AIM-1 3 4
  • SHEP5 3 6
  • OCA4 3 6
  • Membrane-Associated Transporter Protein 3
  • Solute Carrier Family 45 Member 2 4
  • Membrane Associated Transporter 2
  • Underwhite 3
  • 1A1 3

External Ids for SLC45A2 Gene

Previous Symbols for SLC45A2 Gene

  • MATP

Summaries for SLC45A2 Gene

Entrez Gene Summary for SLC45A2 Gene

  • This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

GeneCards Summary for SLC45A2 Gene

SLC45A2 (Solute Carrier Family 45, Member 2) is a Protein Coding gene. Diseases associated with SLC45A2 include albinism, oculocutaneous, type iv and melanoma. An important paralog of this gene is SLC45A3.

UniProtKB/Swiss-Prot for SLC45A2 Gene

  • Melanocyte differentiation antigen. May transport substances required for melanin biosynthesis (By similarity).

Gene Wiki entry for SLC45A2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC45A2 Gene

Genomics for SLC45A2 Gene

Genomic Location for SLC45A2 Gene

Start:
33,944,616 bp from pter
End:
33,984,730 bp from pter
Size:
40,115 bases
Orientation:
Minus strand

Genomic View for SLC45A2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC45A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC45A2 Gene

Regulatory Elements for SLC45A2 Gene

Proteins for SLC45A2 Gene

  • Protein details for SLC45A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UMX9-S45A2_HUMAN
    Recommended name:
    Membrane-associated transporter protein
    Protein Accession:
    Q9UMX9
    Secondary Accessions:
    • Q6P2P0
    • Q9BTM3

    Protein attributes for SLC45A2 Gene

    Size:
    530 amino acids
    Molecular mass:
    58268 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH03597.1; Type=Frameshift; Positions=188; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC45A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC45A2 Gene

Proteomics data for SLC45A2 Gene at MOPED

Post-translational modifications for SLC45A2 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn356

Other Protein References for SLC45A2 Gene

No data available for DME Specific Peptides for SLC45A2 Gene

Domains for SLC45A2 Gene

Gene Families for SLC45A2 Gene

HGNC:
  • SLC :Solute carriers
IUPHAR :

Protein Domains for SLC45A2 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

S45A2_HUMAN
Family:
  • Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family.:
    • Q9UMX9
genes like me logo Genes that share domains with SLC45A2: view

Function for SLC45A2 Gene

Molecular function for SLC45A2 Gene

UniProtKB/Swiss-Prot Function: Melanocyte differentiation antigen. May transport substances required for melanin biosynthesis (By similarity).
genes like me logo Genes that share phenotypes with SLC45A2: view

miRNA for SLC45A2 Gene

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targeting and HOMER Transcription for SLC45A2 Gene

Localization for SLC45A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC45A2 Gene

Melanosome membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC45A2 Gene COMPARTMENTS Subcellular localization image for SLC45A2 gene
Compartment Confidence
plasma membrane 3
extracellular 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC45A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
GO:0033162 melanosome membrane IEA --
genes like me logo Genes that share ontologies with SLC45A2: view

Pathways for SLC45A2 Gene

SuperPathways for SLC45A2 Gene

No Data Available

Interacting Proteins for SLC45A2 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000296589%0d%0a9606.ENSP00000257904%0d%0a9606.ENSP00000266970%0d%0a9606.ENSP00000351908%0d%0a
Selected Interacting proteins: ENSP00000296589 for SLC45A2 Gene via STRING

Gene Ontology (GO) - Biological Process for SLC45A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception IEA --
GO:0042438 melanin biosynthetic process IEA --
GO:0050896 response to stimulus IEA --
GO:0055085 transmembrane transport --
genes like me logo Genes that share ontologies with SLC45A2: view

No data available for Pathways by source for SLC45A2 Gene

Transcripts for SLC45A2 Gene

Unigene Clusters for SLC45A2 Gene

Solute carrier family 45, member 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC45A2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7
SP1: -
SP2: - -
SP3:
SP4: -
SP5:

Relevant External Links for SLC45A2 Gene

GeneLoc Exon Structure for
SLC45A2
ECgene alternative splicing isoforms for
SLC45A2

Expression for SLC45A2 Gene

mRNA expression in normal human tissues for SLC45A2 Gene

mRNA differential expression in normal tissues according to GTEx for SLC45A2 Gene

This gene is overexpressed in Liver (5.7) and Testis (4.9).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for SLC45A2 Gene

SOURCE GeneReport for Unigene cluster for SLC45A2 Gene Hs.278962

mRNA Expression by UniProt/SwissProt for SLC45A2 Gene

Q9UMX9-S45A2_HUMAN
Tissue specificity: Expressed in most melanoma cell lines and melanocytes
genes like me logo Genes that share expressions with SLC45A2: view

Orthologs for SLC45A2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC45A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC45A2 36
  • 99.25 (n)
  • 98.68 (a)
SLC45A2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC45A2 36
  • 86.23 (n)
  • 82.83 (a)
SLC45A2 37
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC45A2 36
  • 87.46 (n)
  • 82.42 (a)
SLC45A2 37
  • 61 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc45a2 36
  • 83.18 (n)
  • 82.42 (a)
Slc45a2 16
Slc45a2 37
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC45A2 37
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC45A2 37
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc45a2 36
  • 83.14 (n)
  • 82.83 (a)
chicken
(Gallus gallus)
Aves SLC45A2 36
  • 69.38 (n)
  • 69.33 (a)
SLC45A2 37
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc45a2 36
  • 68.33 (n)
  • 71.91 (a)
Str.5600 36
zebrafish
(Danio rerio)
Actinopterygii slc45a2 36
  • 64.11 (n)
  • 65.86 (a)
slc45a2 37
  • 58 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG41087 37
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 44 (a)
OneToOne
Species with no ortholog for SLC45A2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SLC45A2 Gene

ENSEMBL:
Gene Tree for SLC45A2 (if available)
TreeFam:
Gene Tree for SLC45A2 (if available)

Paralogs for SLC45A2 Gene

Paralogs for SLC45A2 Gene

Selected SIMAP similar genes for SLC45A2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SLC45A2: view

Variants for SLC45A2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for SLC45A2 Gene

Q9UMX9-S45A2_HUMAN
Genetic variants in SLC45A2 define the skin/hair/eye pigmentation variation locus 5 (SHEP5) [MIM:227240]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair.

Sequence variations from dbSNP and Humsavar for SLC45A2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs13289 -- 33,986,304(-) AGGGC(C/G)ATCTG upstream-variant-2KB
rs26721 -- 33,963,228(+) AAGCT(A/G)ATGAA intron-variant
rs26722 Pathogenic, - 33,963,765(+) TTTCT(C/T)GATAG missense, reference, intron-variant
rs28117 -- 33,962,665(+) TAGAT(A/G)GAATT intron-variant
rs28777 -- 33,958,854(+) AGCAG(A/C)CTCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC45A2 Gene

Variant ID Type Subtype PubMed ID
nsv522715 CNV Gain 19592680
nsv830255 CNV Loss 17160897
nsv462115 CNV Loss 19166990
nsv519240 CNV Gain 19592680
esv33876 CNV Loss 17666407
esv2730053 CNV Deletion 23290073

Relevant External Links for SLC45A2 Gene

HapMap Linkage Disequilibrium report
SLC45A2
Human Gene Mutation Database (HGMD)
SLC45A2
Locus Specific Mutation Databases (LSDB)
SLC45A2

Disorders for SLC45A2 Gene

(2) OMIM Diseases for SLC45A2 Gene (606202)

UniProtKB/Swiss-Prot

S45A2_HUMAN
  • Albinism, oculocutaneous, 4 (OCA4) [MIM:606574]: A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus. {ECO:0000269 PubMed:11574907, ECO:0000269 PubMed:14722913, ECO:0000269 PubMed:14961451, ECO:0000269 PubMed:15656822, ECO:0000269 PubMed:17768386, ECO:0000269 PubMed:19865097, ECO:0000269 PubMed:23504663, ECO:0000269 PubMed:25703744}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for SLC45A2 Gene

(3) Novoseek inferred disease relationships for SLC45A2 Gene

Disease -log(P) Hits PubMed IDs
albinism oculocutaneous 96.2 8
albinism 90.2 1
melanoma 40.1 7

Relevant External Links for SLC45A2

GeneTests
SLC45A2
GeneReviews
SLC45A2
Genetic Association Database (GAD)
SLC45A2
Human Genome Epidemiology (HuGE) Navigator
SLC45A2
genes like me logo Genes that share disorders with SLC45A2: view

Publications for SLC45A2 Gene

  1. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. (PMID: 11574907) Newton J.M. … Brilliant M.H. (Am. J. Hum. Genet. 2001) 2 3 4 23
  2. Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation. (PMID: 15714523) Graf J. … van Daal A. (Hum. Mutat. 2005) 3 4 23 49
  3. Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. (PMID: 14722913) Rundshagen U. … Kaesmann-Kellner B. (Hum. Mutat. 2004) 3 4 23 49
  4. Distribution of the F374 allele of the SLC45A2 (MATP) gene and founder-haplotype analysis. (PMID: 17044855) Yuasa I. … Henke J. (Ann. Hum. Genet. 2006) 3 4 23 49
  5. A genomewide association study of skin pigmentation in a South Asian population. (PMID: 17999355) Stokowski R.P. … Cox D.R. (Am. J. Hum. Genet. 2007) 3 4 23 49

Products for SLC45A2 Gene

Sources for SLC45A2 Gene

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