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    SLC16A2 solute carrier family 16 member 2 [ Homo sapiens (human) ]

    Gene ID: 6567, updated on 14-Apr-2018
    Official Symbol
    SLC16A2provided by HGNC
    Official Full Name
    solute carrier family 16 member 2provided by HGNC
    Primary source
    HGNC:HGNC:10923
    See related
    Ensembl:ENSG00000147100 MIM:300095; Vega:OTTHUMG00000021857
    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
    AHDS; MCT7; MCT8; XPCT; MCT 7; MCT 8; MRX22; DXS128; DXS128E
    Summary
    This gene encodes an integral membrane protein that functions as a transporter of thyroid hormone. The encoded protein facilitates the cellular importation of thyroxine (T4), triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine (T2). This gene is expressed in many tissues and likely plays an important role in the development of the central nervous system. Loss of function mutations in this gene are associated with psychomotor retardation in males while females exhibit no neurological defects and more moderate thyroid-deficient phenotypes. This gene is subject to X-chromosome inactivation. Mutations in this gene are the cause of Allan-Herndon-Dudley syndrome. [provided by RefSeq, Mar 2012]
    Expression
    Broad expression in liver (RPKM 21.4), adrenal (RPKM 17.4) and 22 other tissues See more
    Orthologs
    Location:
    Xq13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (74421493..74533929)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (73641328..73753764)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373252 Neighboring gene ribosomal protein S7 pseudogene 14 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 25 Neighboring gene poly(A) binding protein cytoplasmic 1 pseudogene 3 Neighboring gene ring finger protein, LIM domain interacting Neighboring gene RNA, U6 small nuclear 330, pseudogene

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-06-28)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-06-28)

    ClinGen Genome Curation Page
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    monocarboxylic acid transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    symporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    thyroid hormone transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    thyroid hormone transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    thyroid hormone transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    monocarboxylic acid transport TAS
    Traceable Author Statement
    more info
    PubMed 
    sodium-independent organic anion transport TAS
    Traceable Author Statement
    more info
     
    thyroid hormone transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    thyroid hormone transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    integral component of membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    monocarboxylate transporter 8
    Names
    X-linked PEST-containing transporter
    monocarboxylate transporter 7
    solute carrier family 16, member 2 (thyroid hormone transporter)

    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_011641.1 RefSeqGene

      Range
      5244..117680
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006517.4NP_006508.2  monocarboxylate transporter 8

      See identical proteins and their annotated locations for NP_006508.2

      Status: REVIEWED

      Source sequence(s)
      AA205401, AB085789, AL157934, CN342861
      Consensus CDS
      CCDS14426.2
      UniProtKB/Swiss-Prot
      P36021
      Related
      ENSP00000465734.1, OTTHUMP00000023573, ENST00000587091.5, OTTHUMT00000057266
      Conserved Domains (3) summary
      cd06174
      Location:101498
      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 ...
      TIGR00892
      Location:86513
      2A0113; monocarboxylate transporter 1
      pfam07600
      Location:286334
      DUF1564; Protein of unknown function (DUF1564)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

      Range
      74421493..74533929
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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