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Gene: SLC16A2 (solute carrier family 16 member 2) Homo sapiens
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Symbol: SLC16A2
Name: solute carrier family 16 member 2
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AHDS; Allan-Herndon-Dudley syndrome; DXS128; DXS128E; MCT 7; MCT 8; MCT7; MCT8; mental retardation, X-linked 22; monocarboxylate transporter 7; monocarboxylate transporter 8; MRX22; solute carrier family 16, member 2 (monocarboxylic acid transporter 8); solute carrier family 16, member 2 (thyroid hormone transporter); X-linked PEST-containing transporter; XPCT
Orthologs:
Mus musculus (house mouse) : Slc16a2 (solute carrier family 16 (monocarboxylic acid transporters), member 2)  MGI  Alliance
Rattus norvegicus (Norway rat) : Slc16a2 (solute carrier family 16 member 2)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Slc16a2 (solute carrier family 16 member 2)
Pan paniscus (bonobo/pygmy chimpanzee) : SLC16A2 (solute carrier family 16 member 2)
Canis lupus familiaris (dog) : SLC16A2 (solute carrier family 16 member 2)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Slc16a2 (solute carrier family 16 member 2)
Sus scrofa (pig) : SLC16A2 (solute carrier family 16 member 2)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X74,421,493 - 74,533,929 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X73,641,328 - 73,753,764 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X73,557,810 - 73,670,475 (+)NCBINCBI36hg18NCBI36
Build 34X73,424,105 - 73,536,772NCBI
CeleraX73,924,511 - 74,037,335 (+)NCBI
Cytogenetic MapXq13.2NCBI
HuRefX67,276,476 - 67,388,860 (+)NCBIHuRef
CHM1_1X73,534,235 - 73,646,665 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on SLC16A2
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 737451
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.