SLC12A2 solute carrier family 12 member 2
Gene ID: 6558, updated on 2-Nov-2024Gene type: protein coding
Also known as: BSC; BSC2; CCC1; BSC-2; KILQS; NKCC1; hNKCC1; PPP1R141
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC12A2
- Go to Variation Viewer for SLC12A2 variants
Summary
The protein encoded by this gene mediates sodium and chloride transport and reabsorption. The encoded protein is a membrane protein and is important in maintaining proper ionic balance and cell volume. This protein is phosphorylated in response to DNA damage. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype. GeneReviews: Not available | |
| A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum. GeneReviews: Not available | |
| Delpire-McNeill syndrome | See labs |
| Hearing loss, autosomal dominant 78 | See labs |
| Kilquist syndrome | See labs |
Genomic context
- Location:
- 5q23.3
- Sequence:
- Chromosome: 5; NC_000005.10 (128083766..128189677)
- Total number of exons:
- 29
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC12A2 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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