Human Gene SLC45A2 (ENST00000296589.9) Description and Page Index
  Description: Homo sapiens solute carrier family 45 member 2 (SLC45A2), transcript variant 1, mRNA. (from RefSeq NM_016180)
RefSeq Summary (NM_016180): 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].
Gencode Transcript: ENST00000296589.9
Gencode Gene: ENSG00000164175.15
Transcript (Including UTRs)
   Position: hg38 chr5:33,944,623-33,984,693 Size: 40,071 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg38 chr5:33,944,648-33,984,583 Size: 39,936 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesGeneReviewsMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:33,944,623-33,984,693)mRNA (may differ from genome)Protein (530 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: S45A2_HUMAN
DESCRIPTION: RecName: Full=Membrane-associated transporter protein; AltName: Full=Melanoma antigen AIM1; Short=Protein AIM-1; AltName: Full=Solute carrier family 45 member 2;
FUNCTION: Melanocyte differentiation antigen. May transport substances required for melanin biosynthesis (By similarity).
SUBCELLULAR LOCATION: Melanosome membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Expressed in most melanoma cell lines and melanocytes.
POLYMORPHISM: 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.
DISEASE: Defects in SLC45A2 are the cause of albinism oculocutaneous type 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.
SIMILARITY: Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family.
SEQUENCE CAUTION: Sequence=AAH03597.1; Type=Frameshift; Positions=188;
WEB RESOURCE: Name=Mutations of the MATP gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/matpmut.htm";
WEB RESOURCE: Name=Albinism database (ADB); Note=SLC45A2 mutations; URL="http://albinismdb.med.umn.edu/oca4mut.html";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC45A2";

-  MalaCards Disease Associations
  MalaCards Gene Search: SLC45A2
Diseases sorted by gene-association score: albinism, oculocutaneous, type iv* (1650), oculocutaneous albinism (29), albinism (27), basal cell carcinoma, multiple (10), erythema infectiosum (8), viral exanthem (8), ocular albinism (8), melanoma (7), hermansky-pudlak syndrome 1 (6), alpha-methylacyl-coa racemase deficiency (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.70 RPKM in Testis
Total median expression: 3.63 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -27.10110-0.246 Picture PostScript Text
3' UTR -2.3025-0.092 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016196 - MFS_dom_general_subst_transpt

ModBase Predicted Comparative 3D Structure on Q9UMX9
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsembl  
Protein SequenceProtein Sequence Protein Sequence  
AlignmentAlignment Alignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008506 sucrose:proton symporter activity

Biological Process:
GO:0007601 visual perception
GO:0015770 sucrose transport
GO:0042438 melanin biosynthetic process
GO:0048066 developmental pigmentation
GO:0050896 response to stimulus

Cellular Component:
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0033162 melanosome membrane


-  Descriptions from all associated GenBank mRNAs
  AF172849 - Homo sapiens AIM-1 protein mRNA, complete cds.
BC064405 - Homo sapiens solute carrier family 45, member 2, mRNA (cDNA clone MGC:74426 IMAGE:5563039), complete cds.
HQ448124 - Synthetic construct Homo sapiens clone IMAGE:100071506; CCSB012222_01 solute carrier family 45, member 2 (SLC45A2) gene, encodes complete protein.
KJ893835 - Synthetic construct Homo sapiens clone ccsbBroadEn_03229 SLC45A2 gene, encodes complete protein.
KR711118 - Synthetic construct Homo sapiens clone CCSBHm_00020494 SLC45A2 (SLC45A2) mRNA, encodes complete protein.
KR711119 - Synthetic construct Homo sapiens clone CCSBHm_00020504 SLC45A2 (SLC45A2) mRNA, encodes complete protein.
KR711120 - Synthetic construct Homo sapiens clone CCSBHm_00020510 SLC45A2 (SLC45A2) mRNA, encodes complete protein.
KR711121 - Synthetic construct Homo sapiens clone CCSBHm_00020514 SLC45A2 (SLC45A2) mRNA, encodes complete protein.
BC003597 - Homo sapiens solute carrier family 45, member 2, mRNA (cDNA clone IMAGE:3546951), complete cds.
KJ902564 - Synthetic construct Homo sapiens clone ccsbBroadEn_11958 SLC45A2 gene, encodes complete protein.
CU678524 - Synthetic construct Homo sapiens gateway clone IMAGE:100018600 5' read SLC45A2 mRNA.
CU687878 - Synthetic construct Homo sapiens gateway clone IMAGE:100021772 5' read SLC45A2 mRNA.
JD116489 - Sequence 97513 from Patent EP1572962.
JD130702 - Sequence 111726 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AIM1, MATP, NM_016180, Q6P2P0, Q9BTM3, Q9UMX9, S45A2_HUMAN, uc003jid.1, uc003jid.2, uc003jid.3, uc003jid.4, uc003jid.5
UCSC ID: uc003jid.5
RefSeq Accession: NM_016180
Protein: Q9UMX9 (aka S45A2_HUMAN)
CCDS: CCDS3901.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene SLC45A2:
oca4 (Oculocutaneous Albinism Type 4)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.