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Aliases for SLC45A2 Gene

Aliases for SLC45A2 Gene

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

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 Oculocutaneous Albinism. Among its related pathways are Viral mRNA Translation and Melanin biosynthesis. An important paralog of this gene is SLC45A1.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC45A2 Gene

Genomics for SLC45A2 Gene

Regulatory Elements for SLC45A2 Gene

Enhancers for SLC45A2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G034486 1.5 Ensembl ENCODE dbSUPER 8.6 -502.3 -502275 2.2 FOXA2 ATF1 MLX ARID4B ZNF2 ZNF48 YY1 SLC30A9 ZNF143 FOS SLC45A2 GC05P034404 LOC105374721
GH05G034489 1.1 Ensembl ENCODE dbSUPER 9 -504.6 -504600 1.1 PKNOX1 BHLHE40 MNT ZNF217 CTBP1 GATA3 PBX2 KLF9 TRIM28 MIXL1 SLC45A2 GC05P034404 LOC105374721
GH05G034498 1.8 FANTOM5 Ensembl ENCODE dbSUPER 5.2 -514.5 -514463 2.5 PKNOX1 FOXA2 INSM2 RAD21 YY1 ZNF335 CBX5 ZSCAN5C FOS RELB RAI14 LOC105374753 SLC45A2 LOC105374721 GC05P034404
GH05G034474 0.8 ENCODE 11.6 -490.2 -490246 1.6 CTCF TBL1XR1 TEAD4 MAX RBBP5 ZNF2 ZSCAN9 RAD21 POLR2A ZNF143 SLC45A2 GC05P034404 LOC105374721
GH05G034465 0.8 ENCODE 11.1 -481.7 -481722 1.9 ELF3 SOX13 DRAP1 TFAP4 FOXA2 SAP130 MLX ZFP64 ZSCAN9 ZNF644 SLC45A2 GC05P034404 LOC105374721
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC45A2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC45A2 Gene

Chromosome:
5
Start:
33,944,616 bp from pter
End:
33,985,144 bp from pter
Size:
40,529 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; Positions=188; 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

Protein Domains for SLC45A2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC45A2 Gene

GenScript: Design optimal peptide antigens:

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).

Gene Ontology (GO) - Molecular Function for SLC45A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008506 sucrose:proton symporter activity 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

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , 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 1
cytoskeleton 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC45A2 Gene

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

Pathways & Interactions 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

Unigene Clusters for SLC45A2 Gene

Solute carrier family 45, member 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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
ECgene alternative splicing isoforms for
SLC45A2

Expression for SLC45A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for SLC45A2 Gene



Protein tissue co-expression partners for SLC45A2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC45A2 Gene:

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
Organs:
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

Primer Products

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 34 35
  • 99.25 (n)
dog
(Canis familiaris)
Mammalia SLC45A2 34 35
  • 87.46 (n)
cow
(Bos Taurus)
Mammalia SLC45A2 34 35
  • 86.23 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC45A2 35
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc45a2 34 16 35
  • 83.18 (n)
rat
(Rattus norvegicus)
Mammalia Slc45a2 34
  • 83.14 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC45A2 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC45A2 34 35
  • 69.38 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia slc45a2 34
  • 68.33 (n)
Str.5600 34
zebrafish
(Danio rerio)
Actinopterygii slc45a2 34 35
  • 64.11 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG41087 35
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

Paralogs for SLC45A2 Gene

Paralogs for SLC45A2 Gene

(1) 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

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 from dbSNP and Humsavar for SLC45A2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs121912620 Pathogenic, Albinism, oculocutaneous, 4 (OCA4) [MIM:606574] 33,944,784(-) GCTGG(C/T)TCAGA reference, missense
rs121912621 Pathogenic, Albinism, oculocutaneous, 4 (OCA4) [MIM:606574] 33,982,329(-) CTGCC(A/G)ACTTC reference, missense
rs144503724 Albinism, oculocutaneous, 4 (OCA4) [MIM:606574] 33,947,277(+) TTCGG(A/G/T)AAGAG reference, synonymous-codon, missense
rs146802593 Albinism, oculocutaneous, 4 (OCA4) [MIM:606574] 33,963,973(+) TGGGC(C/G)CAGTC intron-variant, reference, missense
rs146930801 Albinism, oculocutaneous, 4 (OCA4) [MIM:606574] 33,951,665(+) ATCCC(C/T)GCGGT reference, missense

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)

Relevant External Links 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

(12) MalaCards diseases for SLC45A2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
albinism, oculocutaneous, type iv
  • oculocutaneous albinism type 4
oculocutaneous albinism
  • albinism, oculocutaneous
albinism
basal cell carcinoma, multiple
  • multiple basal cell carcinoma
erythema infectiosum
  • fifth disease
- 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, ECO:0000269 PubMed:25703744}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC45A2

Genetic Association Database (GAD)
SLC45A2
Human Genome Epidemiology (HuGE) Navigator
SLC45A2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC45A2
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. (J. Invest. Dermatol. 2010) 3 4 22 46 64
  2. SLC45A2: a novel malignant melanoma-associated gene. (PMID: 18563784) Fernandez L.P. … Ribas G. (Hum. Mutat. 2008) 3 4 22 46 64
  3. Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population. (PMID: 18683857) Guedj M. … Soufir N. (Hum. Mutat. 2008) 3 4 22 46 64
  4. 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 22 46 64
  5. 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 22 46 64

Products for SLC45A2 Gene

Sources for SLC45A2 Gene

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