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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC16A2 Gene

protein-coding   GIFtS: 60
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)
 Explore 20 diseases affiliated with
SLC16A2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SLC16A2    

Aliases
for SLC16A2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Solute Carrier Family 16, Member 2 (Thyroid Hormone Transporter)1 2     X-Linked PEST-Containing Transporter2 3
XPCT1 2 3 5     Allan-Herndon-Dudley Syndrome1
MCT81 2 3     Mental Retardation, X-Linked 221
DXS1281 2 5     Solute Carrier Family 16 (Monocarboxylic Acid Transporters), Member 21
AHDS1 2     Solute Carrier Family 16 (Monocarboxylic Acid Transporters), Member 2 (Putative
Transporter)1
MCT71 2     Solute Carrier Family 16, Member 2 (Monocarboxylic Acid Transporter 8)1
MRX221 2     DXS128E2
Monocarboxylate Transporter 72 3     Monocarboxylate Transporter 82
MCT 72 3     Solute Carrier Family 16 Member 23
MCT 82 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


Summaries
for SLC16A2 gene

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

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011669.17  
Regulatory elements:
   SABiosciences 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 plasmid: SLC16A2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC16A2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for SLC16A2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: MOT8_HUMAN, P36021 (See protein sequence)
Recommended Name: Monocarboxylate transporter 8  
Size: 539 amino acids; 59511 Da
Subunit: Homodimer
Subcellular location: Cell membrane; Multi-pass membrane protein (By similarity)
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; Sequence=AAB60375.1; Type=Erroneous gene model
prediction;
Secondary accessions: Q7Z797

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P36021

    • SLC16A2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

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    Uscn Proteins for SLC16A2

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005887integral to plasma membrane TAS9425115
    GO:0016020membrane TAS9425115


    SLC16A2 for ontologies           About GeneDecksing



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    Uscn Antibodies for SLC16A2
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    Uscn ELISAs and CLIAs for SLC16A2

    Protein Domains /
    Families
    for SLC16A2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SLC16A2 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR020846 MFS_dom
     IPR011701 MFS
     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


    Function
    for SLC16A2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)

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

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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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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity TAS7981683
    GO:0008028monocarboxylic acid transmembrane transporter activity TAS9425115
    GO:0015293symporter activity IEA--
    GO:0015349thyroid hormone transmembrane transporter activity ----


    SLC16A2 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for SLC16A2: Slc16a2tm1Dgen Slc16a2tm1.1Sref
         4 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Slc16a2):
     homeostasis/metabolism  immune system  nervous system  no phenotypic analysis 

    SLC16A2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SLC16A2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins 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): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS7981683
    GO:0009914hormone transport ----
    GO:0015718monocarboxylic acid transport TAS9425115
    GO:0070327thyroid hormone transport ----


    SLC16A2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC16A2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC16A2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SLC16A2

    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 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)

    Search CenterWatch for drugs/clinical trials and news about SLC16A2 / MOT8 

    Transcripts
    for SLC16A2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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)


    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 plasmid: SLC16A2 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

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

    3 DOTS entries:

    DT.87016902  DT.102826006  DT.91684266 

    24/114 AceView cDNA sequences (see all 114):

    AI192875 BU625930 AW137081 BG120651 AA436458 BQ015063 BQ774063 AI870292 
    F03730 F02520 AW613567 AF055025 AB085789 AI355911 U05315 T17350 
    BM564786 AI654069 AU125793 CA436438 AW139037 AA046697 CB105355 F05065 

    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

    Expression
    for SLC16A2 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC16A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGACATTTAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SLC16A2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainBlood Brain BarrierAdult Endothelial CellsBlood Brain Barrier, Endothelium
    BrainChoroid PlexusMature Choroid Plexus CellsChoroid Plexus
    HeartEndocardiumCushion Mesenchymal CellsEndocardium
    BrainChoroid PlexusBrain
    Neural TubeMetencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor SM22 (Embryonic Progenitor Cell)

    See SLC16A2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC16A2

    SOURCE GeneReport for Unigene cluster: Hs.75317

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

        SABiosciences Expression via Pathway-Focused PCR Array including SLC16A2: 
              Drug Transporters in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for SLC16A2 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for SLC16A2 gene from 3/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SLC16A21 solute carrier family 16, member 2 (monocarboxylic more 70.46(n)
    67.81(a)    		   428716  XM_426274.3  XP_426274.2 
    lizard
    (Anolis carolinensis)    		 Reptilia SLC16A26
    --
    		 --
    		 67(a)
    26(a)
    		 1 ↔ 1
    possible ortholog
    		 GL343813.1(65659-82077)
    1(225466406-225473739)
    fruit fly
    (Drosophila melanogaster)    		 Insecta kar3 ommochrome biosynthesis monocarboxylic acid
    transporter    		 39(a)   3 87C5   --


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

    Paralogs
    for SLC16A2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC16A2 gene
    SLC16A42  SLC16A32  SLC16A52  SLC16A102  SLC16A112  SLC16A62  SLC16A82  SLC16A142  
    SLC16A72  SLC16A12  SLC16A122  SLC16A92  SLC16A132  
    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



    Genomic Variants
    for SLC16A2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1156 NCBI SNPs in SLC16A2 are shown (see all 1156)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs66474761,2
    		C,non-pathogenic73641569(+) CGGAGC/TCTGAG 2 P S mis1 ese33Minor allele frequency- T:0.00NA CSA 3
    rs128491611,2
    		C,F,non-pathogenic73744491(+) ACCCCA/C/TAGCAA 3 P syn1 ese34NA WA CSA 4613
    rs1048949361,2
    		Cpathogenic73740843(+) CCTCGC/TGATGG 2 A V mis10--------
    rs1048949391,2
    		Cpathogenic73745637(+) GCTCTG/TGGTGT 2 W L mis10--------
    rs1048949311,2
    		Cpathogenic73749190(+) TGAGCC/TGGTGG 2 P L mis10--------
    rs1048949381,2
    		Cpathogenic73751249(+) AATCCC/TCTTCT 2 P L mis10--------
    rs2003718181,2
    		--73639340(+) AAAAG-/AAAAAA 1 -- us2k10--------
    rs1845967961,2
    		--73639475(+) AACACA/GGGGAG 1 -- us2k10--------
    rs1898216891,2
    		--73639584(+) CCTCAA/GTTTTC 1 -- us2k10--------
    rs1927803461,2
    		--73639718(+) GCAGCA/GCAAGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SLC16A2 (73641085 - 73753752 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SLC16A2
         1 CNV: 96766
    Human Gene Mutation Database (HGMD): SLC16A2

    Locus Specific Mutation Databases (LSDB): SLC16A2

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for SLC16A2 gene

    (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.)
    About This Section
    SLC16A2 for disorders           About GeneDecksing

    OMIM gene information: 300095   
    OMIM disorders: 300523  
    UniProtKB/Swiss-Prot: MOT8_HUMAN, P36021
  • Defects in SLC16A2 are the cause of monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523];
    • also known as Allan-Herndon-Dudley syndrome (AHDS). MCT8 deficiency 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

    20 diseases for SLC16A2:    About MalaCards
    allan-herndon-dudley syndrome    mental retardation, x-linked    pelizaeus-merzbacher-like disease    thyroiditis
    pelizaeus-merzbacher disease    familial partial lipodystrophy    spastic quadriplegia    thyroid hormone metabolism
    major depressive disorder    quadriplegia    x inactivation    intellectual disability
    lipodystrophy    spasticity    nystagmus    hypotonia
    cerebritis    retinitis    neuronitis    septic shock

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

    4 Novoseek 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

    Publications
    for SLC16A2 gene

    (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)
    About This Section

    PubMed articles for SLC16A2 gene, integrated from 9 sources (see all 83):
    (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. (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. (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. (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. (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. (2008)
    6. 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. (2004)
    7. Evidence for a homodimeric structure of human monocar boxylate transporter 8. (PubMed id 19797118)1, 2, 9 Visser W.E....Visser T.J. (2009)
    8. Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations. (PubMed id 18636565)1, 2, 9 Visser W.E....Visser T.J. (2009)
    9. Expression of the thyroid hormone transporters monocarboxylate transporter-8 (SLC16A2) and organic ion transporter-14 (SLCO1C1) at the blood-brain barrier. (PubMed id 18687783)1, 9 Roberts L.M....Zerangue N. (2008)
    10. The monocarboxylate transporter 8 linked to human psychomotor retardation is highly expressed in thyroid hormone-sensitive neuron populations. (PubMed id 15661862)1, 9 Heuer H....Bauer K. (2005)

    External Searches for SLC16A2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SLC16A2 gene

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

    Other Databases showing SLC16A2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SLC16A2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC16A2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC16A2

    Intellectual Property
    for SLC16A2 gene

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

    GeneCards and IP:
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