The SLC16A2 gene homepage

General information
Gene symbol SLC16A2
Gene name solute carrier family 16, member 2 (thyroid hormone transporter)
Chromosome X
Chromosomal band q13.2
Imprinted Unknown
Genomic reference NG_011641.1
Transcript reference NM_006517.4
Exon/intron information NM_006517.4 exon/intron table
Associated with diseases AHDS, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 73
Unique public DNA variants reported 65
Individuals with public variants 25
Hidden variants 5
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project. The database was initiated associated with Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543.
Date created March 06, 2009
Date last updated March 19, 2023
Version SLC16A2:230319

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_006517.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 10923
Entrez Gene 6567
PubMed articles SLC16A2
OMIM - Gene 300095
OMIM - Diseases AHDS (Allan-Herndon-Dudley syndrome)
GeneCards SLC16A2
GeneTests SLC16A2
Orphanet SLC16A2

Active transcripts




NCBI ID     

NCBI Protein ID     

00019120 X solute carrier family 16, member 2 (thyroid hormone transporter) NM_006517.4 NP_006508.2 73

Copyright & disclaimer
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