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Aliases for SLC45A2 Gene

Aliases for SLC45A2 Gene

  • Solute Carrier Family 45 Member 2 2 3 4 5
  • Solute Carrier Family 45, Member 2 2 3
  • Melanoma Antigen AIM1 3 4
  • Protein AIM-1 3 4
  • AIM1 3 4
  • MATP 3 4
  • 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 Albinism. 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

Regulatory Elements for SLC45A2 Gene

Enhancers for SLC45A2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

Proteomics data for SLC45A2 Gene at MOPED

Post-translational modifications for SLC45A2 Gene

  • Glycosylation at Asn 356
  • 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).
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for SLC45A2 Gene COMPARTMENTS Subcellular localization image for SLC45A2 gene
Compartment Confidence
plasma membrane 4
cytoskeleton 1
extracellular 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for SLC45A2 Gene

Pathways & Interactions 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:0048066 developmental pigmentation IEA --
genes like me logo Genes that share ontologies with SLC45A2: view

No data available for Pathways by source and 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:

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 (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



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 expression patterns with SLC45A2: view

Protein tissue co-expression partners for SLC45A2 Gene

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
cow
(Bos Taurus)
Mammalia SLC45A2 35
  • 86.23 (n)
  • 82.83 (a)
SLC45A2 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC45A2 35
  • 87.46 (n)
  • 82.42 (a)
SLC45A2 36
  • 61 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc45a2 35
  • 83.18 (n)
  • 82.42 (a)
Slc45a2 16
Slc45a2 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC45A2 35
  • 99.25 (n)
  • 98.68 (a)
SLC45A2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc45a2 35
  • 83.14 (n)
  • 82.83 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC45A2 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC45A2 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC45A2 35
  • 69.38 (n)
  • 69.33 (a)
SLC45A2 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc45a2 35
  • 68.33 (n)
  • 71.91 (a)
Str.5600 35
zebrafish
(Danio rerio)
Actinopterygii slc45a2 35
  • 64.11 (n)
  • 65.86 (a)
slc45a2 36
  • 58 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG41087 36
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

(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
rs16891982 - 33,951,588(+) ATGCA(C/G)AAGCC nc-transcript-variant, reference, missense, utr-variant-3-prime
VAR_022710 Albinism, oculocutaneous, 4 (OCA4)
VAR_022711 Albinism, oculocutaneous, 4 (OCA4)
VAR_022712 Albinism, oculocutaneous, 4 (OCA4)
VAR_022713 Albinism, oculocutaneous, 4 (OCA4)

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

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

Disorders for SLC45A2 Gene

MalaCards: The human disease database

(9) 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 iv
albinism
oculocutaneous albinism
  • albinism, oculocutaneous
basal cell carcinoma, multiple
  • multiple basal cell carcinoma
ocular albinism
  • xloa
- 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. 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 48 67
  2. Distinctive distribution of AIM1 polymorphism among major human populations with different skin color. (PMID: 11916009) Nakayama K. … Ishida T. (J. Hum. Genet. 2002) 2 3 23
  3. 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 23
  4. Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. (PMID: 19710684) Duffy D.L. … Montgomery G.W. (J. Invest. Dermatol. 2010) 3 23
  5. 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 23

Products for SLC45A2 Gene

Sources for SLC45A2 Gene

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