SLC16A2

GENE INFORMATION

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Gene name

SLC16A2 (HGNC Symbol)

Synonyms

AHDS, DXS128, MCT7, MCT8, MRX22, XPCT

Description

solute carrier family 16, member 2 (thyroid hormone transporter) (HGNC Symbol)

Entrez gene 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]

Chromosome

X (Chromosome progress)

Cytoband

q13.2

Chromosome location (bp)

73641085 - 73753752

Ensembl

ENSG00000147100 (version 73.37)

Entrez gene

6567

UniProt

P36021 (UniProt - Evidence at protein level)

neXtProt

NX_P36021

Antibodypedia

SLC16A2 antibodies
 

PROTEIN VIEW

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SLC16A2-001
 
SLC16A2-002
 
SLC16A2-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SLC16A2-001 ENSP00000465734
ENST00000587091
P36021
Show all »
Show » Show » 539 59.5 No >9
SLC16A2-002 ENSP00000466213
ENST00000590447
Show » Show » 229 25.5 No 6
SLC16A2-201 ENSP00000276033
ENST00000276033
P36021
Show all »
Show » Show » 613 66.4 No >9