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SLC45A2 solute carrier family 45 member 2 [ Homo sapiens (human) ]

Gene ID: 51151, updated on 13-Mar-2020

Summary

Official Symbol
SLC45A2provided by HGNC
Official Full Name
solute carrier family 45 member 2provided by HGNC
Primary source
HGNC:HGNC:16472
See related
Ensembl:ENSG00000164175 MIM:606202
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
1A1; AIM1; MATP; OCA4; SHEP5
Summary
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]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See SLC45A2 in Genome Data Viewer
Location:
5p13.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (33944623..33984693, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (33944721..33984780, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 12 Neighboring gene RNA, U6 small nuclear 923, pseudogene Neighboring gene C1QTNF3-AMACR readthrough (NMD candidate) Neighboring gene relaxin family peptide receptor 3 Neighboring gene proteasome 26S subunit, ATPase, 6 pseudogene 3 Neighboring gene alpha-methylacyl-CoA racemase Neighboring gene C1q and TNF related 3 Neighboring gene glucuronidase beta pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Oculocutaneous albinism type 4
MedGen: C1847836 OMIM: 606574 GeneReviews: Oculocutaneous Albinism Type 4
Compare labs
Skin/hair/eye pigmentation, variation in, 5
MedGen: C2673584 OMIM: 227240 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.
NHGRI GWA Catalog
A genomewide association study of skin pigmentation in a South Asian population.
NHGRI GWA Catalog
Genome-wide association study identifies three new melanoma susceptibility loci.
NHGRI GWA Catalog
Genome-wide association study of tanning phenotype in a population of European ancestry.
NHGRI GWA Catalog
Web-based, participant-driven studies yield novel genetic associations for common traits.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
sucrose:proton symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sucrose:proton symporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
developmental pigmentation IEA
Inferred from Electronic Annotation
more info
 
melanin biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
sucrose transport ISS
Inferred from Sequence or Structural Similarity
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
melanosome membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
membrane-associated transporter protein
Names
melanoma antigen AIM1
protein AIM-1
underwhite

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011691.2 RefSeqGene

    Range
    5001..45060
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001012509.4NP_001012527.2  membrane-associated transporter protein isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding region compared to variant 1. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
    Source sequence(s)
    AC139777, AC139783
    Consensus CDS
    CCDS43308.1
    Related
    ENSP00000371534.3, ENST00000382102.7
  2. NM_001297417.3NP_001284346.2  membrane-associated transporter protein isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has multiple differences, which result in a translational frameshift and an earlier translation termination as well as a novel 3' UTR, compared to variant 1. The resulting isoform (c) is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AC139777, AC139783
    Consensus CDS
    CCDS75232.1
    UniProtKB/Swiss-Prot
    Q9UMX9
    UniProtKB/TrEMBL
    D6RGY6
    Related
    ENSP00000421100.1, ENST00000509381.1
    Conserved Domains (1) summary
    cd06174
    Location:34157
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
  3. NM_016180.5NP_057264.4  membrane-associated transporter protein isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AC139777, AC139783
    Consensus CDS
    CCDS3901.1
    Related
    ENSP00000296589.4, ENST00000296589.9
    Conserved Domains (1) summary
    TIGR01301
    Location:31449
    GPH_sucrose; GPH family sucrose/H+ symporter

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    33944623..33984693 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187551.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    145945..155829 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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