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

Gene ID: 6567, updated on 3-Jun-2018
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; Vega:OTTHUMG00000021857
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
See SLC16A2 in Genome Data Viewer
Location:
Xq13.2
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (74421493..74533929)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (73641328..73753764)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373252 Neighboring gene ribosomal protein S7 pseudogene 14 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 25 Neighboring gene poly(A) binding protein cytoplasmic 1 pseudogene 3 Neighboring gene ring finger protein, LIM domain interacting Neighboring gene RNA, U6 small nuclear 330, pseudogene

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
monocarboxylic acid transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
symporter activity IEA
Inferred from Electronic Annotation
more info
 
thyroid hormone transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thyroid hormone transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
thyroid hormone transmembrane transporter activity TAS
Traceable Author Statement
more info
 
transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transporter activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
monocarboxylic acid transport TAS
Traceable Author Statement
more info
PubMed 
sodium-independent organic anion transport TAS
Traceable Author Statement
more info
 
thyroid hormone transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thyroid hormone transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
monocarboxylate transporter 8
Names
X-linked PEST-containing transporter
monocarboxylate transporter 7
solute carrier family 16, member 2 (thyroid hormone transporter)

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_011641.1 RefSeqGene

    Range
    5244..117680
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006517.4NP_006508.2  monocarboxylate transporter 8

    See identical proteins and their annotated locations for NP_006508.2

    Status: REVIEWED

    Source sequence(s)
    AA205401, AB085789, AL157934, CN342861
    Consensus CDS
    CCDS14426.2
    UniProtKB/Swiss-Prot
    P36021
    Related
    ENSP00000465734.1, OTTHUMP00000023573, ENST00000587091.5, OTTHUMT00000057266
    Conserved Domains (3) summary
    cd06174
    Location:101498
    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:86513
    2A0113; monocarboxylate transporter 1
    pfam07600
    Location:286334
    DUF1564; Protein of unknown function (DUF1564)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    74421493..74533929
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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