SLC4A5 solute carrier family 4 member 5
Gene ID: 57835, updated on 5-Mar-2024Gene type: protein coding
Also known as: NBC4; NBCe2
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC4A5
- Go to Variation Viewer for SLC4A5 variants
Summary
This gene encodes a member of the sodium bicarbonate cotransporter (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved in intracellular pH regulation and electroneural or electrogenic sodium bicarbonate transport. This protein is thought to be an integral membrane protein. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. GeneReviews: Not available | |
| Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder. GeneReviews: Not available |
Genomic context
- Location:
- 2p13.1
- Sequence:
- Chromosome: 2; NC_000002.12 (74216242..74343416, complement)
- Total number of exons:
- 33
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC4A5 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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
- SLC4A5 @ LOVD
- Variation ViewerRelated Variants
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