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    SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter) [ Homo sapiens (human) ]

    Gene ID: 6567, updated on 4-Jul-2015
    Official Symbol
    SLC16A2provided by HGNC
    Official Full Name
    solute carrier family 16, member 2 (thyroid hormone transporter)provided by HGNC
    Primary source
    HGNC:HGNC:10923
    See related
    Ensembl:ENSG00000147100; HPRD:02106; 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]
    Orthologs
    See SLC16A2 in Epigenomics, MapViewer
    Location:
    Xq13.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 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 KIAA2022

    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
    • Thyroid hormone signaling pathway, organism-specific biosystem (from KEGG)
      Thyroid hormone signaling pathway, organism-specific biosystemThe thyroid hormones (THs) are important regulators of growth, development and metabolism. The action of TH is mainly mediated by T3 (3,5,3'-triiodo-L-thyronine). Thyroid hormones, L-thyroxine (T4) a...
    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
     
    transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    monocarboxylic acid transport TAS
    Traceable Author Statement
    more info
    PubMed 
    thyroid hormone transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transport TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    integral component of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    monocarboxylate transporter 8
    Names
    X-linked PEST-containing transporter
    monocarboxylate transporter 7

    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, OTTHUMP00000023573, ENST00000587091, OTTHUMT00000057266
      Conserved Domains (2) 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
      Monocarboxylate_transporter_2; monocarboxylate transporter 1

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_005262294.1XP_005262351.1  

      Conserved Domains (1) summary
      cd06174
      Location:101408
      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 ...
    2. XM_011531015.1XP_011529317.1  

      Conserved Domains (1) summary
      cd06174
      Location:101284
      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 ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      73534235..73646665
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)