SLC26A3 solute carrier family 26 member 3
Gene ID: 1811, updated on 27-Nov-2024Gene type: protein coding
Also known as: CLD; DRA
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC26A3
- Go to Variation Viewer for SLC26A3 variants
Summary
The protein encoded by this gene is a transmembrane glycoprotein that transports chloride ions across the cell membrane in exchange for bicarbonate ions. It is localized to the mucosa of the lower intestinal tract, particularly to the apical membrane of columnar epithelium and some goblet cells. The protein is essential for intestinal chloride absorption, and mutations in this gene have been associated with congenital chloride diarrhea. [provided by RefSeq, Oct 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population. GeneReviews: Not available | |
| Congenital secretory diarrhea, chloride type | See labs |
| Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. GeneReviews: Not available | |
| Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. GeneReviews: Not available |
Genomic context
- Location:
- 7q22.3-q31.1
- Sequence:
- Chromosome: 7; NC_000007.14 (107765469..107803223, complement)
- Total number of exons:
- 21
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC26A3 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
- SLC26A3 database
- Variation ViewerRelated Variants
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