SLC26A4 solute carrier family 26 member 4
Gene ID: 5172, updated on 22-Apr-2024Gene type: protein coding
Also known as: EVA; PDS; DFNB4; TDH2B
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC26A4
- Go to Variation Viewer for SLC26A4 variants
Summary
Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks. GeneReviews: Not available | |
| Autosomal recessive nonsyndromic hearing loss 4 MedGen: C3538946OMIM: 600791GeneReviews: Genetic Hearing Loss Overview, Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueduct | See labs |
| Pendred syndrome MedGen: C0271829OMIM: 274600GeneReviews: Genetic Hearing Loss Overview, Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueduct | See labs |
Genomic context
- Location:
- 7q22.3
- Sequence:
- Chromosome: 7; NC_000007.14 (107660828..107717809)
- Total number of exons:
- 21
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC26A4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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