SLC4A4 solute carrier family 4 member 4
Gene ID: 8671, updated on 3-Nov-2024Gene type: protein coding
Also known as: KNBC; NBC1; NBC2; pNBC; HNBC1; NBCe1; PRTAO; hhNMC; kNBC1; SLC4A5; NBCe1-A
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC4A4
- Go to Variation Viewer for SLC4A4 variants
Summary
This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Autosomal recessive proximal renal tubular acidosis | See labs |
| Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants. GeneReviews: Not available | |
| Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. GeneReviews: Not available | |
| Impact of ancestry and common genetic variants on QT interval in African Americans. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract. GeneReviews: Not available |
Genomic context
- Location:
- 4q13.3
- Sequence:
- Chromosome: 4; NC_000004.12 (71062660..71572083)
- Total number of exons:
- 37
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC4A4 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
- SLC4A4 @ LOVD
- Variation ViewerRelated Variants
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