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    SLC16A2 solute carrier family 16 member 2 [ Homo sapiens (human) ]

    Gene ID: 6567, updated on 16-Apr-2024

    Summary

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    Official Symbol
    SLC16A2provided by HGNC
    Official Full Name
    solute carrier family 16 member 2provided by HGNC
    Primary source
    HGNC:HGNC:10923
    See related
    Ensembl:ENSG00000147100 MIM:300095; AllianceGenome:HGNC:10923
    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]
    Expression
    Broad expression in liver (RPKM 21.4), adrenal (RPKM 17.4) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    Xq13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (74421493..74533916)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (72854953..72967553)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (73641328..73753751)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373252 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:73631745-73632397 Neighboring gene ribosomal protein S7 pseudogene 14 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 25 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29766 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:73744106-73744606 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:73787669-73788649 Neighboring gene poly(A) binding protein cytoplasmic 1 pseudogene 3 Neighboring gene ring finger protein, LIM domain interacting Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29767 Neighboring gene RNA, U6 small nuclear 330, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Role and Clinical Significance of Monocarboxylate Transporter 8 (MCT8) During Pregnancy. Thomas J, et al. Reprod Sci, 2023 Jun. PMID 36595209, Free PMC Article
    2. Monocarboxylate Transporter 8 Deficiency: From Pathophysiological Understanding to Therapy Development. van Geest FS, et al. Front Endocrinol (Lausanne), 2021. PMID 34539576, Free PMC Article
    3. Spatiotemporal Changes of Cerebral Monocarboxylate Transporter 8 Expression. Wilpert NM, et al. Thyroid, 2020 Sep. PMID 32143555
    4. Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations. Remerand G, et al. Dev Med Child Neurol, 2019 Dec. PMID 31410843
    5. [A family with Allan-Herndon-Dudley syndrome due to SLC16A2 gene mutation]. Tang YL, et al. Zhonghua Er Ke Za Zhi, 2018 Nov 2. PMID 30392207

    See all (88) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Impaired T3 uptake and action in MCT8-deficient cerebral organoids underlie Allan-Herndon-Dudley syndrome.
      Title: Impaired T3 uptake and action in MCT8-deficient cerebral organoids underlie Allan-Herndon-Dudley syndrome.
    2. Thyroid Hormone Transporters MCT8 and OATP1C1 Are Expressed in Projection Neurons and Interneurons of Basal Ganglia and Motor Thalamus in the Adult Human and Macaque Brains.
      Title: Thyroid Hormone Transporters MCT8 and OATP1C1 Are Expressed in Projection Neurons and Interneurons of Basal Ganglia and Motor Thalamus in the Adult Human and Macaque Brains.
    3. Role and Clinical Significance of Monocarboxylate Transporter 8 (MCT8) During Pregnancy.
      Title: Role and Clinical Significance of Monocarboxylate Transporter 8 (MCT8) During Pregnancy.
    4. Thyroid Hormone Transporters MCT8 and OATP1C1 Are Expressed in Pyramidal Neurons and Interneurons in the Adult Motor Cortex of Human and Macaque Brain.
      Title: Thyroid Hormone Transporters MCT8 and OATP1C1 Are Expressed in Pyramidal Neurons and Interneurons in the Adult Motor Cortex of Human and Macaque Brain.
    5. The tissue expression of MCT3, MCT8, and MCT9 genes in women with breast cancer.
      Title: The tissue expression of MCT3, MCT8, and MCT9 genes in women with breast cancer.
    6. Monocarboxylate Transporter 8 Deficiency: From Pathophysiological Understanding to Therapy Development.
      Title: Monocarboxylate Transporter 8 Deficiency: From Pathophysiological Understanding to Therapy Development.
    7. Spatiotemporal Changes of Cerebral Monocarboxylate Transporter 8 Expression.
      Title: Spatiotemporal Changes of Cerebral Monocarboxylate Transporter 8 Expression.
    8. Single Nucleotide Polymorphisms in Thyroid Hormone Transporter Genes MCT8, MCT10 and Deiodinase DIO2 Contribute to Inter-Individual Variance of Executive Functions and Personality Traits.
      Title: Single Nucleotide Polymorphisms in Thyroid Hormone Transporter Genes MCT8, MCT10 and Deiodinase DIO2 Contribute to Inter-Individual Variance of Executive Functions and Personality Traits.
    9. Mutations across the entire SLC16A2 gene, including large deletions, missense mutations, and splicing mutations, overlap with the known genetic spectrum in Allan-Herndon-Dudley syndrome.
      Title: Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.
    10. Allan-Herndon-Dudley syndrome is an X-linked mental retardation caused by SLC16A2 gene mutations
      Title: [Clinical and genetic features of five patients with Allan-Herndon-Dudley syndrome].
    Submit: New GeneRIF Correction See all GeneRIFs (66)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Allan-Herndon-Dudley syndrome
    MedGen: C0795889 OMIM: 300523 GeneReviews: Allan-Herndon-Dudley Syndrome
    		Compare labs

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables amino acid transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables monocarboxylic acid transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables thyroid hormone transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables thyroid hormone transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables thyroid hormone transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in amino acid import across plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of amino acid metabolic process IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in monocarboxylic acid transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of negative regulation of neural precursor cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in thyroid hormone generation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of thyroid hormone metabolic process IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in thyroid hormone transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in thyroid hormone transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in thyroid hormone transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in thyroid-stimulating hormone secretion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transport across blood-brain barrier IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in transport across blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    monocarboxylate transporter 8
    Names
    X-linked PEST-containing transporter
    monocarboxylate transporter 7
    solute carrier family 16, member 2 (thyroid hormone transporter)

    NCBI Reference Sequences (RefSeq)

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    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_011641.2 RefSeqGene

      Range
      5244..117667
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006517.5 → NP_006508.2  monocarboxylate transporter 8

      See identical proteins and their annotated locations for NP_006508.2

      Status: REVIEWED

      Source sequence(s)
      AB085789, AL157934, CN342861
      Consensus CDS
      CCDS14426.2
      UniProtKB/Swiss-Prot
      P36021, Q7Z797
      Related
      ENSP00000465734.1, ENST00000587091.6
      Conserved Domains (3) summary
      cd06174
      Location:101 → 498
      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:86 → 513
      2A0113; monocarboxylate transporter 1
      pfam07600
      Location:286 → 334
      DUF1564; Protein of unknown function (DUF1564)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      74421493..74533916
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      72854953..72967553
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P36021.2 GenPept UniProtKB/Swiss-Prot:P36021

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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