WNK1 WNK lysine deficient protein kinase 1
Gene ID: 65125, updated on 3-Apr-2024Gene type: protein coding
Also known as: KDP; PSK; p65; HSN2; HSAN2; PRKWNK1; PPP1R167
- See all available tests in GTR for this gene
- Go to complete Gene record for WNK1
- Go to Variation Viewer for WNK1 variants
Summary
This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. GeneReviews: Not available | |
| Neuropathy, hereditary sensory and autonomic, type 2A | See labs |
| Pseudohypoaldosteronism type 2C | See labs |
| Pseudohypoaldosteronism, type 2 MedGen: C1449844GeneReviews: Pseudohypoaldosteronism Type II | not available |
Genomic context
- Location:
- 12p13.33
- Sequence:
- Chromosome: 12; NC_000012.12 (752579..911452)
- Total number of exons:
- 31
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for WNK1 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
- WNK1 @ LOVD
- WNK1 homepage - Leiden Muscular Dystrophy pages
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