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FLASH GENE
Symbol SLC16A2 contributors: mct - updated : 15-09-2021
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   highly Homo sapiens
    Endocrineneuroendocrinepituitary  highly Homo sapiens
     thyroid   highly Homo sapiens
    Nervousbrain   highly Homo sapiens
     brainlimbic systemhippocampus highly Homo sapiens
     brainforebraincerebral cortex   Homo sapiens
    Urinarykidney   highly 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
  • is a specific and very active TH transporter
  • essential physiological requirement for SLC16A2 in chondrocytes, and likely role for additional transporters in other skeletal cells during adult bone maintenance
  • SLC16A2-dependent TH uptake in neural progenitors, revealing the importance of local TH action in early development
  • potential role of SLC16A2 in TH transport for human oligodendrocytes (OL) development
  • unique gate-keeper function of SLC16A2 and SLCO1C1 in satellite cells (SCs) activation, underscoring the importance of a finely tuned TH signaling during myogenesis
  • 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
    SystemTypeDisorderPubmed
    miscelleaneousthyroid 
    DITPA, (an SLC16A2-independent TH analog) is a promising treatment for developmentally-regulated myelination in AHDS
    ANIMAL & CELL MODELS
  • Mct8 knockout (ko) mice do not exhibit overt neurological symptoms but fully replicate the unusual serum TH profile with highly increased serum T3 in the presence of low serum T4