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    Slc45a2 solute carrier family 45, member 2 [ Mus musculus (house mouse) ]

    Gene ID: 22293, updated on 9-Dec-2024

    Summary

    Official Symbol
    Slc45a2provided by MGI
    Official Full Name
    solute carrier family 45, member 2provided by MGI
    Primary source
    MGI:MGI:2153040
    See related
    Ensembl:ENSMUSG00000022243 AllianceGenome:MGI:2153040
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    uw; Dbr; bls; Aim1; Matp; Oca4; Aim-1; blanc-sale
    Summary
    Enables D-glucose:proton symporter activity and sucrose:proton symporter activity. Involved in developmental pigmentation; lysosomal lumen pH elevation; and melanin biosynthetic process from tyrosine. Acts upstream of or within sucrose transport. Predicted to be located in melanosome membrane. Predicted to be active in membrane. Is expressed in brain; embryo ectoderm; eye; mesenchyme derived from neural crest; and skin. Used to study oculocutaneous albinism. Human ortholog(s) of this gene implicated in oculocutaneous albinism type IV and pigmentation disease. Orthologous to human SLC45A2 (solute carrier family 45 member 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Genomic context

    See Slc45a2 in Genome Data Viewer
    Location:
    15 A1; 15 5.4 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (11000807..11029319)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (11000721..11029233)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 34315 Neighboring gene C1q and tumor necrosis factor related protein 3 Neighboring gene STARR-seq mESC enhancer starr_37987 Neighboring gene predicted gene, 52174 Neighboring gene alpha-methylacyl-CoA racemase Neighboring gene STARR-seq mESC enhancer starr_37988 Neighboring gene relaxin family peptide receptor 3 Neighboring gene predicted gene, 53884

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (12) 
    • Endonuclease-mediated (4) 
    • Spontaneous (7)  1 citation
    • Targeted (1)  1 citation

    Pathways from PubChem

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables D-glucose:proton symporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sucrose:proton symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables sucrose:proton symporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within developmental pigmentation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in developmental pigmentation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in hexose transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lysosomal lumen pH elevation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lysosomal lumen pH elevation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in lysosomal lumen pH elevation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in melanin biosynthetic process from tyrosine IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in melanin biosynthetic process from tyrosine ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in melanin biosynthetic process from tyrosine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within sucrose transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in melanosome membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in melanosome membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    membrane-associated transporter protein
    Names
    B/AIM-1-like protein
    dominant brown
    melanoma antigen AIM1
    protein AIM-1
    protein underwhite

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_053077.3NP_444307.1  membrane-associated transporter protein

      See identical proteins and their annotated locations for NP_444307.1

      Status: VALIDATED

      Source sequence(s)
      AK029155
      Consensus CDS
      CCDS27382.1
      UniProtKB/Swiss-Prot
      P58355
      UniProtKB/TrEMBL
      D3YWT7, Q541S3, Q8C204
      Related
      ENSMUSP00000112408.3, ENSMUST00000117100.4
      Conserved Domains (2) summary
      cd06174
      Location:39231
      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 ...
      pfam13347
      Location:36524
      MFS_2; MFS/sugar transport protein

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000081.7 Reference GRCm39 C57BL/6J

      Range
      11000807..11029319
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)