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... See more...

Aliases for SLC45A2 Gene

Aliases for SLC45A2 Gene

  • Solute Carrier Family 45 Member 2 2 3 4 5
  • Membrane-Associated Transporter Protein 3 4
  • Melanoma Antigen AIM1 3 4
  • Protein AIM-1 3 4
  • MATP 3 4
  • AIM1 3 4
  • Solute Carrier Family 45, Member 2 2
  • Membrane Associated Transporter 2
  • Underwhite 3
  • SHEP5 3
  • OCA4 3
  • 1A1 3

External Ids for SLC45A2 Gene

Previous HGNC Symbols for SLC45A2 Gene

  • MATP

Previous GeneCards Identifiers for SLC45A2 Gene

  • GC05M033981

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 Skin/Hair/Eye Pigmentation, Variation In, 5. Among its related pathways are Metabolism and Viral mRNA Translation. An important paralog of this gene is SLC45A1.

UniProtKB/Swiss-Prot Summary for SLC45A2 Gene

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

Gene Wiki entry for SLC45A2 Gene

Additional gene information for SLC45A2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC45A2 Gene

Genomics for SLC45A2 Gene

GeneHancer (GH) Regulatory Elements for SLC45A2 Gene

Promoters and enhancers for SLC45A2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J033984 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 500.7 +0.4 444 1 TARDBP TSC22D4 MYC TOE1 TAF9B NFRKB ZNF112 MCM7 MNT STAT5A SLC45A2 ENSG00000250914 lnc-RXFP3-2
GH05J034465 Enhancer 0.9 Ensembl ENCODE 11.1 -481.7 -481722 1.9 POLR2G KDM6A TGIF2 SKI ZSCAN9 CTCF FOXA2 SAP130 JUND FOXP1 SLC45A2 HSALNG0041087 HSALNG0041084
GH05J034486 Enhancer 1.1 ENCODE dbSUPER 8.6 -502.3 -502266 2.2 EP300 FOXK2 CTCF TCF12 POLR2G NCOR1 FOS KDM6A TCF7 FOXA1 RF00017-4564 SLC45A2 RF00017-4565
GH05J034474 Enhancer 0.7 ENCODE 11.6 -490.2 -490245 1.6 CTCF MYC TEAD4 REST RAD21 TRIM22 SMC3 ZSCAN9 POLR2A ZNF184 HSALNG0041087 SLC45A2 HSALNG0041084
GH05J034464 Enhancer 0.6 Ensembl 10.4 -480.1 -480115 0.9 CTCF REST CUX1 RAD21 TRIM22 CTBP1 ZNF316 SMC3 ELF1 ZNF654 SLC45A2 HSALNG0041084 HSALNG0041087
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC45A2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC45A2

Top Transcription factor binding sites by QIAGEN in the SLC45A2 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CBF-C
  • CP1A
  • Sp1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for SLC45A2 Gene

Genomic Locations for SLC45A2 Gene
chr5:33,944,616-33,985,144
(GRCh38/hg38)
Size:
40,529 bases
Orientation:
Minus strand
chr5:33,944,721-33,984,835
(GRCh37/hg19)
Size:
40,115 bases
Orientation:
Minus strand

Genomic View for SLC45A2 Gene

Genes around SLC45A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC45A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC45A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC45A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC45A2 Gene

Post-translational modifications for SLC45A2 Gene

  • Glycosylation at Asn356
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC45A2 Gene

No data available for DME Specific Peptides for SLC45A2 Gene

Domains & Families for SLC45A2 Gene

Gene Families for SLC45A2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC45A2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC45A2 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 45 member 2 (S45A2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UMX9

UniProtKB/Swiss-Prot:

S45A2_HUMAN :
  • Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family.
Family:
  • Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family.
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).

Phenotypes From GWAS Catalog for SLC45A2 Gene

Gene Ontology (GO) - Molecular Function for SLC45A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008506 sucrose:proton symporter activity IBA,ISS --
genes like me logo Genes that share ontologies with SLC45A2: view
genes like me logo Genes that share phenotypes with SLC45A2: view

Human Phenotype Ontology for SLC45A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC45A2 gene
Compartment Confidence
plasma membrane 4
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SLC45A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA,IBA 21873635
GO:0016021 integral component of membrane IEA --
GO:0033162 melanosome membrane IEA --
genes like me logo Genes that share ontologies with SLC45A2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC45A2 Gene

Pathways & Interactions for SLC45A2 Gene

PathCards logo

SuperPathways for SLC45A2 Gene

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

Pathways by source for SLC45A2 Gene

Gene Ontology (GO) - Biological Process for SLC45A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception IEA --
GO:0015770 sucrose transport ISS --
GO:0042438 melanin biosynthetic process IEA --
GO:0048066 developmental pigmentation IEA --
GO:0050896 response to stimulus IEA --
genes like me logo Genes that share ontologies with SLC45A2: view

No data available for SIGNOR curated interactions for SLC45A2 Gene

Drugs & Compounds for SLC45A2 Gene

No Compound Related Data Available

Transcripts for SLC45A2 Gene

mRNA/cDNA for SLC45A2 Gene

3 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

Expression for SLC45A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC45A2 Gene

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

This gene is overexpressed in Liver (x5.7) and Testis (x4.9).

Protein differential expression in normal tissues from HIPED for SLC45A2 Gene

This gene is overexpressed in Pancreatic juice (31.3), Lung (28.7), and Platelet (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC45A2 Gene



Protein tissue co-expression partners for SLC45A2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC45A2

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.

Evidence on tissue expression from TISSUES for SLC45A2 Gene

  • Skin(4.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC45A2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • eyelid
  • head
General:
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with SLC45A2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for SLC45A2 Gene

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 31 30
  • 99.25 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC45A2 31 30
  • 87.46 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC45A2 31 30
  • 86.23 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC45A2 31
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc45a2 17 31 30
  • 83.18 (n)
rat
(Rattus norvegicus)
Mammalia Slc45a2 30
  • 83.14 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC45A2 31
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC45A2 31 30
  • 69.38 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc45a2 30
  • 68.33 (n)
Str.5600 30
zebrafish
(Danio rerio)
Actinopterygii slc45a2 31 30
  • 64.11 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG41087 31
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 44 (a)
OneToOne
Species where no ortholog for SLC45A2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SLC45A2: view image

Paralogs for SLC45A2 Gene

Paralogs for SLC45A2 Gene

(1) SIMAP similar genes for SLC45A2 Gene using alignment to 4 proteins:

  • S45A2_HUMAN
  • C9JK74_HUMAN
  • D6RBP8_HUMAN
  • D6RGY6_HUMAN
genes like me logo Genes that share paralogs with SLC45A2: view

Variants for SLC45A2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for SLC45A2 Gene

S45A2_HUMAN-Q9UMX9
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC45A2 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
627608 Likely Pathogenic: Oculocutaneous albinism type 4 33,984,435(-) G/T MISSENSE_VARIANT
627609 Uncertain Significance: Oculocutaneous albinism type 4 33,984,397(-) C/A MISSENSE_VARIANT
627610 Likely Pathogenic: Oculocutaneous albinism type 4 33,984,393(-) C/A MISSENSE_VARIANT
rs1057518722 Pathogenic: Oculocutaneous albinism type 4 33,984,420(-) T/TA FRAMESHIFT_VARIANT
rs113746028 Likely Benign: Oculocutaneous albinism; Alpha-methylacyl-CoA racemase deficiency 33,987,132(-) C/T NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for SLC45A2 Gene

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

Variant ID Type Subtype PubMed ID
esv2730053 CNV deletion 23290073
esv33876 CNV loss 17666407
esv3604666 CNV gain 21293372
esv3894173 CNV loss 25118596
nsv1019937 CNV loss 25217958
nsv462115 CNV loss 19166990
nsv519240 CNV gain 19592680
nsv522715 CNV gain 19592680
nsv597792 CNV loss 21841781
nsv597793 CNV loss 21841781
nsv830255 CNV loss 17160897

Variation tolerance for SLC45A2 Gene

Residual Variation Intolerance Score: 77.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.09; 95.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC45A2 Gene

Human Gene Mutation Database (HGMD)
SLC45A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC45A2

Disorders for SLC45A2 Gene

MalaCards: The human disease database

(25) MalaCards diseases for SLC45A2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SLC45A2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC45A2: view

No data available for Genatlas for SLC45A2 Gene

Publications for SLC45A2 Gene

  1. A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. (PMID: 19865097) Wei A … Li W (The Journal of investigative dermatology 2010) 3 4 23 41 54
  2. SLC45A2: a novel malignant melanoma-associated gene. (PMID: 18563784) Fernandez LP … Ribas G (Human mutation 2008) 3 4 23 41 54
  3. Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population. (PMID: 18683857) Guedj M … MelanCohort Investigators (Human mutation 2008) 3 4 23 41 54
  4. A genomewide association study of skin pigmentation in a South Asian population. (PMID: 17999355) Stokowski RP … Cox DR (American journal of human genetics 2007) 3 4 23 41 54
  5. Distribution of the F374 allele of the SLC45A2 (MATP) gene and founder-haplotype analysis. (PMID: 17044855) Yuasa I … Henke J (Annals of human genetics 2006) 3 4 23 41 54

Products for SLC45A2 Gene

Sources for SLC45A2 Gene