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

Summary

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

Location:: Xq13.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (74421493..74533916)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (72854953..72967553)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (73641328..73753751)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Melanocortin-4 Receptor PLC Activation Is Modulated by an Interaction with the Monocarboxylate Transporter 8.
Title: Melanocortin-4 Receptor PLC Activation Is Modulated by an Interaction with the Monocarboxylate Transporter 8.
Identification of Iodotyrosines as Novel Substrates for the Thyroid Hormone Transporter MCT8.
Title: Identification of Iodotyrosines as Novel Substrates for the Thyroid Hormone Transporter MCT8.
Spatiotemporal expression of thyroid hormone transporter MCT8 and THRA mRNA in human cerebral organoids recapitulating first trimester cortex development.
Title: Spatiotemporal expression of thyroid hormone transporter MCT8 and THRA mRNA in human cerebral organoids recapitulating first trimester cortex development.
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.
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.
Role and Clinical Significance of Monocarboxylate Transporter 8 (MCT8) During Pregnancy.
Title: Role and Clinical Significance of Monocarboxylate Transporter 8 (MCT8) During Pregnancy.
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.
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.
Monocarboxylate Transporter 8 Deficiency: From Pathophysiological Understanding to Therapy Development.
Title: Monocarboxylate Transporter 8 Deficiency: From Pathophysiological Understanding to Therapy Development.
Spatiotemporal Changes of Cerebral Monocarboxylate Transporter 8 Expression.
Title: Spatiotemporal Changes of Cerebral Monocarboxylate Transporter 8 Expression.

Submit: New GeneRIF Correction See all GeneRIFs (69)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXS128 (e-PCR)
- UniSTS:99340

GDB:600880 (e-PCR)
- UniSTS:99104

DXS128 (e-PCR)
- UniSTS:17557

DXS7738 (e-PCR)
- UniSTS:45205

Slc16a2 (e-PCR), detects polymorphism
- UniSTS:526752

SLC16A2_396 (e-PCR)
- UniSTS:277721

DXS128 (e-PCR)
- UniSTS:99060

RH70539 (e-PCR)
- UniSTS:29944

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 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

NG_011641.2 RefSeqGene

Range

5244..117667

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)