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SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter) [ Homo sapiens (human) ]

Gene ID: 6567, updated on 19-Jul-2014
Official Symbol
SLC16A2provided by HGNC
Official Full Name
solute carrier family 16, member 2 (thyroid hormone transporter)provided by HGNC
Primary source
HGNC:10923
Locus tag
RP11-449M9.1
See related
Ensembl:ENSG00000147100; HPRD:02106; 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]
See SLC16A2 in Epigenomics, MapViewer
Location:
Xq13.2
Exon count:
6
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 1 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 KIAA2022

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-06-28)

ISCA Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-06-28)

ISCA Genome Curation Page
  • Thyroid hormone signaling pathway, organism-specific biosystem (from KEGG)
    Thyroid hormone signaling pathway, organism-specific biosystemThe thyroid hormones (THs) are important regulators of growth, development and metabolism. The action of TH is mainly mediated by T3 (3,5,3'-triiodo-L-thyronine). Thyroid hormones, L-thyroxine (T4) a...
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
 
transporter activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
monocarboxylic acid transport TAS
Traceable Author Statement
more info
PubMed 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
transport TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
membrane TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
monocarboxylate transporter 8
Names
monocarboxylate transporter 8
monocarboxylate transporter 7
X-linked PEST-containing 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 

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

mRNA and Protein(s)

  1. NM_006517.4NP_006508.2  monocarboxylate transporter 8

    See proteins identical to NP_006508.2

    Status: REVIEWED

    Source sequence(s)
    AA205401, AB085789, AL157934, CN342861
    Consensus CDS
    CCDS14426.2
    UniProtKB/Swiss-Prot
    P36021
    Related
    ENSP00000465734, OTTHUMP00000023573, ENST00000587091, OTTHUMT00000057266
    Conserved Domains (2) summary
    cd06174
    Location:101498
    Blast Score: 295
    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
    Blast Score: 484
    2A0113; monocarboxylate transporter 1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

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

mRNA and Protein(s)

  1. XM_005262294.1XP_005262351.1  

    Conserved Domains (1) summary
    cd06174
    Location:101408
    Blast Score: 174
    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 ...

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    67276476..67388860
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    73534235..73646665
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)