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FLASH GENE
Symbol SLC16A2 contributors: mct - updated : 24-03-2010
HGNC name solute carrier family 16, member 2 (monocarboxylic acid transporter 8)
HGNC id 10923
Corresponding disease
AHDS Allan-Herndon-Dudley syndrome
DUPXQ13 chromosome Xq13.213.3 duplication
MCT8D monocarboxylate transporter 8 deficiency
Location Xq13.2      Physical location : 73.641.084 - 73.753.752
Synonym name
  • solute carrier family 16 (monocarboxylic acid transporters), member 2
  • X-linked PEST-containing transporter
  • solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)
  • Synonym symbol(s) DXS128E, MCT7, XPCT, DXS128, MCT8
    DNA
    TYPE functioning gene
    STRUCTURE 112.67 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - DXS559 - OGT - DXS131 - DXS162 - RPS4X - CITED1 - DXS227 - NAP1L2 - CDX4 - CHIC1 - XIST - JPX - FTX FTX - ZCCHC13 - SLC16A2 - DXS441 - DXS171 - DXS347 - DXS325 - DXS356 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 4396 - 613 - 2008 18668440
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver     Homo sapiens
    Nervousbrain   highly Homo sapiens
     brainlimbic systemhippocampus highly Homo sapiens
     brainforebraincerebral cortex   Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose    Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • twelve hydrophobic transmembrane spanning segments
  • a large cytoplasmic loop between TM6 and TM7 and
  • a N terminal PEST domain
  • HOMOLOGY
    interspecies homolog to murine Slc16a2
    Homologene
    FAMILY
  • major facilitator superfamily
  • monocarboxylate porter family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • mediating movement of lactate and pyruvate across membranes
  • involved in the transport of triiodothyronine into neurons, very active and specific thyroid hormone transporter
  • with SLC16A10, facilitate iodothyronine uptake as well as efflux
  • may play an important role in the transport of thyroid hormone in the brain, which is essential for the crucial action of the hormone during brain development
  • may be important to modulate thyroid hormone effects on osteoblast differentiation and on bone development and metabolism
  • hypoxia stimulates lactate release and modulates monocarboxylate transporter (SLC16A1, SLC16A2, and SLC16A4) expression in human adipocytes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text monocarboxylate transporter
    PATHWAY
    metabolism monocarbon
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule other,
  • proton linked
  • protein
  • PTTG1IP binds and alters the subcellular localization of SLC16A2
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MCT8D , AHDS , DUPXQ13
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS