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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
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Genomic context

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See SLC16A2 in Genome Data Viewer
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
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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

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