The SLC26A2 gene homepage

General information
Gene symbol SLC26A2
Gene name solute carrier family 26 (sulfate transporter), member 2
Chromosome 5
Chromosomal band q31-q34
Imprinted Unknown
Genomic reference LRG_684
Transcript reference NM_000112.3
Exon/intron information NM_000112.3 exon/intron table
Associated with diseases ACG, ACG-1B, AO-2, DTD, EDM-4
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 111
Unique public DNA variants reported 56
Individuals with public variants 82
Hidden variants 3
Download all this gene's data Download all data
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.

This database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66). We gratefully acknowledge the support of Juha Muilu acting as curator until 2015.
Date created April 05, 2011
Date last updated July 21, 2021
Version SLC26A2:210721

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_000112.3.
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
External URL Finnish Disease Database (FinDis)
HGNC 10994
Entrez Gene 1836
PubMed articles SLC26A2
OMIM - Gene 606718
OMIM - Diseases ACG-1B (achondrogenesis, type IB (ACG-1B))
AO-2 (atelosteogenesis, type II (AO-2, De la Chapelle dysplasia))
DTD (dysplasia, diastrophic (DTD))
EDM-4 (dysplasia, epiphyseal, multiple, type 4 (EDM-4))
GeneCards SLC26A2
GeneTests SLC26A2
Orphanet SLC26A2

Active transcripts




NCBI ID     

NCBI Protein ID     

00000137 5 solute carrier family 26 (sulfate transporter), member 2 NM_000112.3 NP_000103.2 111

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2011-2021. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.