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SLC16A2 Gene

protein-coding   GIFtS: 66
GCID: GC0XP073640

Solute Carrier Family 16, Member 2 (Thyroid Hormone Transporter)

(Previous names: solute carrier family 16 (monocarboxylic acid transporters),...)
(Previous symbols: DXS128, AHDS, MRX22)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Solute Carrier Family 16, Member 2 (Thyroid Hormone Transporter)1 2     Allan-Herndon-Dudley Syndrome1
DXS1281 2 5     Mental Retardation, X-Linked 221
XPCT2 3 5     Solute Carrier Family 16 (Monocarboxylic Acid Transporters), Member 21
AHDS1 2     Solute Carrier Family 16 (Monocarboxylic Acid Transporters), Member 2
(Putative Transporter)1
MRX221 2     Solute Carrier Family 16, Member 2 (Monocarboxylic Acid Transporter 8)1
Monocarboxylate Transporter 72 3     DXS128E2
MCT82 3     MCT72
MCT 72 3     Monocarboxylate Transporter 82
MCT 82 3     Solute Carrier Family 16 Member 23
X-Linked PEST-Containing Transporter2 3     

External Ids:    HGNC: 109231   Entrez Gene: 65672   Ensembl: ENSG000001471007   OMIM: 3000955   UniProtKB: P360213   

Export aliases for SLC16A2 gene to outside databases

Previous GC identifers: GC0XP069442 GC0XP070815 GC0XP071855 GC0XP072507 GC0XP073424 GC0XP073557 GC0XP067253


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SLC16A2 Gene:
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)

GeneCards Summary for SLC16A2 Gene:
SLC16A2 (solute carrier family 16, member 2 (thyroid hormone transporter)) is a protein-coding gene. Diseases associated with SLC16A2 include mct8-specific thyroid hormone cell-membrane transporter deficiency, and allan-herndon-dudley syndrome. GO annotations related to this gene include monocarboxylic acid transmembrane transporter activity and transporter activity. An important paralog of this gene is SLC16A10.

UniProtKB/Swiss-Prot: MOT8_HUMAN, P36021
Function: Very active and specific thyroid hormone transporter. Stimulates cellular uptake of thyroxine (T4),
triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine. Does not transport Leu, Phe, Trp or Tyr
(By similarity)

Gene Wiki entry for SLC16A2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NT_011651.18  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC16A2 gene promoter:
         Max1   STAT1   MyoD   STAT1beta   STAT1alpha   E2F-1   E2F   HFH-1   Pax-4a   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC16A2 promoter sequence
   Search Chromatin IP Primers for SLC16A2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC16A2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq13.2   Ensembl cytogenetic band:  Xq13.2   HGNC cytogenetic band: Xq13.2

SLC16A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC16A2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP073640:  view genomic region     (about GC identifiers)

Start:
73,641,085 bp from pter      End:
73,753,752 bp from pter
Size:
112,668 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MOT8_HUMAN, P36021 (See protein sequence)
Recommended Name: Monocarboxylate transporter 8  
Size: 539 amino acids; 59511 Da
Subunit: Homodimer
Miscellaneous: Abnormal brain development associated with MCT8 deficiency may be the consequence of either
decreased or increased intracellular T3 concentrations
Sequence caution: Sequence=AAB60374.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAB60375.1; Type=Erroneous gene model prediction;
Secondary accessions: Q7Z797

Explore the universe of human proteins at neXtProt for SLC16A2: NX_P36021

Explore proteomics data for SLC16A2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SLC16A2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006508.2  
    ENSEMBL proteins: 
     ENSP00000465734   ENSP00000466213   ENSP00000276033  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Monocarboxylate transporter 8
    SLC16 family of monocarboxylate transporters

    3 InterPro protein domains:
     IPR011701 MFS
     IPR020846 MFS_dom
     IPR016196 MFS_dom_general_subst_transpt

    Graphical View of Domain Structure for InterPro Entry P36021

    ProtoNet protein and cluster: P36021

    UniProtKB/Swiss-Prot: MOT8_HUMAN, P36021
    Similarity: Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family


    SLC16A2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MOT8_HUMAN, P36021
    Function: Very active and specific thyroid hormone transporter. Stimulates cellular uptake of thyroxine (T4),
    triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine. Does not transport Leu, Phe, Trp or Tyr
    (By similarity)

         Genatlas biochemistry entry for SLC16A2:
    solute carrier family 16,member A2,monocarboxylic acids transporter,67kDa,mediating movement of lactate and
    pyruvate across membranes

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity TAS7981683
    GO:0008028monocarboxylic acid transmembrane transporter activity TAS9425115
    GO:0015293symporter activity IEA--
         
    SLC16A2 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Slc16a2):
     homeostasis/metabolism  immune system  integument  nervous system  no phenotypic analysis 

    SLC16A2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SLC16A2: Slc16a2tm1Dgen Slc16a2tm1.1Sref

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC16A2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC16A2
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    miRNA
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    hsa-miR-576-3p hsa-miR-429 hsa-miR-29a hsa-miR-488 hsa-miR-449a hsa-miR-764 hsa-miR-374c hsa-miR-3649
    SwitchGear 3'UTR luciferase reporter plasmidSLC16A2 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MOT8_HUMAN, P36021: Cell membrane; Multi-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol1
    golgi apparatus1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral component of plasma membrane TAS9425115
    GO:0016020membrane TAS9425115
    GO:0016021integral component of membrane ----

    SLC16A2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SLC16A2 About    
    See pathways by source

    SuperPathContained pathways About
    1Thyroid hormone signaling pathway
    Thyroid hormone signaling pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for SLC16A2):
        Thyroid hormone signaling pathway


    SLC16A2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC16A2: 
              Drug Transporters in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SLC16A2

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for SLC16A2 (P360213 ENSP000002760334) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SERPINA7P055433, ENSP000003293744I2D: score=1 STRING: ENSP00000329374
    THRAP108273, ENSP000002646374I2D: score=1 STRING: ENSP00000264637
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS7981683
    GO:0015718monocarboxylic acid transport TAS9425115
    GO:0055085transmembrane transport ----

    SLC16A2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SLC16A2 (MOT8)

    1 HMDB Compound for SLC16A2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Pyruvic acid2-Oxopropanoate (see all 14)127-17-3--

    6 DrugBank Compounds for SLC16A2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Leucine(2S)-2-Amino-4-methylpentanoic acid (see all 16)61-90-5transportersubstrate12871948
    L-Tryptophan(-)-Tryptophan (see all 14)73-22-3transporterinhibitor12871948
    L-Tyrosine2-Amino-3-(p-hydroxyphenyl)propionic acid (see all 3)60-18-4transporterinhibitor12871948
    Levothyroxine(-)-Thyroxine (see all 13)51-48-9transporterinhibitor12871948
    Liotrix-- 8065-29-0transporterinhibitor12871948
    Pyruvic acid2-Oxopropanoate (see all 8)127-17-3target--16604139

    2 Novoseek inferred chemical compound relationships for SLC16A2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    triiodothyronine 70.7 20 15488219 (2), 17356046 (1), 19018842 (1), 19648159 (1) (see all 5)
    thyroxine 66.4 2 17899191 (1), 18334584 (1)



    SLC16A2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SLC16A2 gene: 
    NM_006517.4  

    Unigene Cluster for SLC16A2:

    Solute carrier family 16, member 2 (thyroid hormone transporter)
    Hs.75317  [show with all ESTs]
    Unigene Representative Sequence: U05315
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000587091 ENST00000590447 ENST00000276033(uc004ebt.2 uc010nlr.1)

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    hsa-miR-576-3p hsa-miR-429 hsa-miR-29a hsa-miR-488 hsa-miR-449a hsa-miR-764 hsa-miR-374c hsa-miR-3649
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    Additional mRNA sequence: 

    AB085789.1 AF055025.1 AK308542.1 U05315.1 

    3 DOTS entries:

    DT.87016902  DT.102826006  DT.91684266 

    Selected AceView cDNA sequences (see all 114):

    BU625930 AW137081 T17350 F03730 U05315 AI355911 AI870292 BQ015063 
    F02520 BM564786 AA436458 AW613567 BQ774063 F05065 AB085789 CA436438 
    BG120651 AA046697 AI498621 AI654069 AI192875 NM_006517 AW139037 R38761 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for SLC16A2    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b
    SP1:                                          
    SP2:                          -               


    ECgene alternative splicing isoforms for SLC16A2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLC16A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGACATTTAA
    SLC16A2 Expression
    About this image


    SLC16A2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Adult Endothelial Cells Blood Brain Barrier
             Choroid Plexus
     
     Epithelial Cells
             Mature Choroid Plexus Cells Choroid Plexus
     
     Endothelium (Cardiovascular System)
             Adult Endothelial Cells Blood Brain Barrier
     
     Dermis (Integumentary System)    fully expand to see all 2 entries
             Zigzag Dermal Papilla Cells Dermal Papilla
     
     Neural Crest (Gastrulation Derivatives)
             PureStem 7SMOO32, NCr-fac & Meso Progenitor
    SLC16A2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC16A2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.75317

    UniProtKB/Swiss-Prot: MOT8_HUMAN, P36021
    Tissue specificity: Highly expressed in liver and heart

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC16A2: 
              Drug Transporters in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC16A2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SLC16A2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc16a21 , 5 solute carrier family 16 (monocarboxylic acid transporters), more1, 5 89.67(n)1
    93.88(a)1
      X (46.29 cM)5
    205021  NM_009197.21  NP_033223.21 
     1036974145 
    chicken
    (Gallus gallus)
    Aves SLC16A21 solute carrier family 16, member 2 (thyroid hormone more 70.46(n)
    67.81(a)
      428716  XM_426274.4  XP_426274.2 
    lizard
    (Anolis carolinensis)
    Reptilia SLC16A26
    solute carrier family 16, member 2 (thyroid hormon...
    66(a)
    1 ↔ 1
    GL343813.1(65638-82080)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004946351 monocarboxylate transporter 8-like 65.09(n)
    66.89(a)
      100494635  XM_002931827.2  XP_002931873.2 
    zebrafish
    (Danio rerio)
    Actinopterygii slc16a21 solute carrier family 16 (monocarboxylic acid transporters), more 67.09(n)
    65.4(a)
      100884148  NM_001258230.1  NP_001245159.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta kar3 ommochrome biosynthesis monocarboxylic
    acid transporter
    39(a)   3 87C5   --
    worm
    (Caenorhabditis elegans)
    Secernentea gem-16
    Protein C49F8.2 (C49F8.2) mRNA, complete cds
    7(a)
    many ↔ many
    X(13371539-13376992) WBGene00008214


    ENSEMBL Gene Tree for SLC16A2 (if available)
    TreeFam Gene Tree for SLC16A2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC16A2 gene
    SLC16A102  
    4 SIMAP similar genes for SLC16A2 using alignment to 2 protein entries:     MOT8_HUMAN (see all proteins):
    SLC16A10    SLC16A13    SLC16A7    SLC16A3

    SLC16A2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SLC16A2 (see all 1405)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0223484
    Monocarboxylate transporter 8 deficiency (MCT8 deficiency)4--see VAR_0223482 A V mis40--------
    VAR_0590564
    Monocarboxylate transporter 8 deficiency (MCT8 deficiency)4--see VAR_0590562 V M mis40--------
    VAR_0223504
    Monocarboxylate transporter 8 deficiency (MCT8 deficiency)4--see VAR_0223502 L P mis40--------
    VAR_0590594
    Monocarboxylate transporter 8 deficiency (MCT8 deficiency)4--see VAR_0590592 G R mis40--------
    VAR_0590544
    Monocarboxylate transporter 8 deficiency (MCT8 deficiency)4--see VAR_0590542 S F mis40--------
    VAR_0223494
    Monocarboxylate transporter 8 deficiency (MCT8 deficiency)4--see VAR_0223492 L P mis40--------
    VAR_0590574
    Monocarboxylate transporter 8 deficiency (MCT8 deficiency)4--see VAR_0590572 L W mis40--------
    VAR_0590604
    Monocarboxylate transporter 8 deficiency (MCT8 deficiency)4--see VAR_0590602 L P mis40--------
    rs66474761,2
    Cnon-pathogenic173649669(+) CGGAGC/TCTGAG 2 P S mis1 ese33Minor allele frequency- T:0.00NA CSA 3
    rs128491611,2
    C,Fnon-pathogenic173752584(+) ACCCCA/C/TAGCAA 2 P syn1 ese34NA WA CSA 4613

    HapMap Linkage Disequilibrium report for SLC16A2 (73641085 - 73753752 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SLC16A2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv424889CNV Insertion16902084
    esv1645631CNV Insertion17803354
    nsv507971CNV Insertion20534489
    nsv521472CNV Gain19592680

    Human Gene Mutation Database (HGMD): SLC16A2
    Locus Specific Mutation Databases (LSDB): SLC16A2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC16A2
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC16A2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300095   
    OMIM disorders: 300523  
    UniProtKB/Swiss-Prot: MOT8_HUMAN, P36021
  • Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]: Consists of a severe form of
    X-linked psychomotor retardation combined with abnormal thyroid hormone (TH) levels. Thyroid hormone deficiency
    can be caused by defects of hormone synthesis and action, but it has also been linked to a defect in cellular
    hormone transport. Affected patients are males with abnormal relative concentrations of three circulating
    iodothyronines, as well as severe neurological abnormalities, including global developmental delay, central
    hypotonia, spastic quadriplegia, dystonic movements, rotary nystagmus, and impaired gaze and hearing.
    Heterozygous females had a milder thyroid phenotype and no neurological defects. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • Selected diseases for SLC16A2 (see all 25):    
    About MalaCards
    mct8-specific thyroid hormone cell-membrane transporter deficiency    allan-herndon-dudley syndrome    paroxysmal dyskinesia    x-linked disease
    quadriplegia    familial partial lipodystrophy    spastic quadriplegia    pelizaeus-merzbacher disease
    lipodystrophy    thyroiditis    mental retardation, x-linked    mental retardation
    major depressive disorder    septic shock    hypotonia    spasticity
    intellectual disability    hypothyroidism    choroiditis    cerebritis

    3 diseases from the University of Copenhagen DISEASES database for SLC16A2:
    X-linked disease     Intellectual disability     Hypothyroidism

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    4 Novoseek inferred disease relationships for SLC16A2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    muscle hypoplasia 85.3 3 17899191 (1)
    developmental delay 45.9 1 16417886 (1)
    mental retardation 43.7 6 19936787 (1), 16417886 (1), 19641107 (1)
    critically ill 38.8 6 19439506 (4), 19747372 (1), 16707210 (1)

    Genetic Association Database (GAD): SLC16A2
    Human Genome Epidemiology (HuGE) Navigator: SLC16A2 (2 documents)

    Export disorders for SLC16A2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SLC16A2 gene, integrated from 10 sources (see all 95):
    (articles sorted by number of sources associating them with SLC16A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. (PubMed id 15889350)1, 2, 3, 9 Schwartz C.E.... Stevenson R.E. (Am. J. Hum. Genet. 2005)
    2. A novel transmembrane transporter encoded by the XPCT gene in Xq13.2. (PubMed id 7981683)1, 2, 3, 9 Lafreniere R.G.... Willard H.F. (Hum. Mol. Genet. 1994)
    3. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. (PubMed id 14661163)1, 2, 4, 9 Dumitrescu A.M.... Refetoff S. (Am. J. Hum. Genet. 2004)
    4. Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter. (PubMed id 12871948)1, 3, 7 Friesema E.C....Visser T.J. (J. Biol. Chem. 2003)
    5. MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. (PubMed id 18398436)1, 2, 9 Frints S.G.... Kuss A.W. (Eur. J. Hum. Genet. 2008)
    6. Prevalence and functional analysis of the S107P polymorphism (rs6647476) of the monocarboxylate transporter 8 (SLC16A2) gene in the male population of north-west Spain (Galicia). (PubMed id 18710470)1, 4, 9 Lago-LestA^n R....DomA-nguez-Gerpe L. (Clin. Endocrinol. (Oxf) 2009)
    7. Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. (PubMed id 15488219)1, 2, 9 Friesema E.C.H.... Visser T.J. (Lancet 2004)
    8. Evidence for a homodimeric structure of human monocarboxylate transporter 8. (PubMed id 19797118)1, 2, 9 Visser W.E.... Visser T.J. (Endocrinology 2009)
    9. Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations. (PubMed id 18636565)1, 2, 9 Visser W.E....Visser T.J. (Hum. Mutat. 2009)
    10. Importance of His192 in the human thyroid hormone transporter MCT8 for substrate recognition. (PubMed id 23610131)1, 2 Groeneweg S....Visser T.J. (Endocrinology 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6567 HGNC: 10923 AceView: SLC16A2 Ensembl:ENSG00000147100 euGenes: HUgn6567
    ECgene: SLC16A2 Kegg: 6567 H-InvDB: SLC16A2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SLC16A2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SLC16A2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC16A2 gene:
    Search GeneIP for patents involving SLC16A2

    GeneCards and IP:
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