WNK1 wt Allele

Preferred Label : WNK1 wt Allele;

NCIt synonyms : WNK Lysine Deficient Protein Kinase 1 wt Allele; HSAN2; PHA2C; hWNK1; KIAA0344; HSN2; KDP; PRKWNK1; PSK; Protein Kinase, Lysine-Deficient 1; Hereditary Sensory Neuropathy, Type II Gene; p65; Protein Kinase, Lysine Deficient 1 Gene; Protein Phosphatase 1, Regulatory Subunit 167 Gene; PPP1R167;

NCIt definition : Human WNK1 wild-type allele is located in the vicinity of 12p13.3 and is approximately 159 kb in length. This allele, which encodes serine/threonine-protein kinase WNK1 protein, is involved in regulation of blood pressure by controlling the transport of both sodium and chloride ions. Mutations in this gene are associated with both pseudohypoaldosteronism type II and hereditary sensory neuropathy type II.;

GenBank Accession Number : NM_018979;

Details

Origin ID

C105603;

UMLS CUI

C3538798;

Automatic exact mappings (from CISMeF team)
- Hereditary sensory and autonomic neuropathy type 2 [ORDO Disease]
- Hereditary sensory and autonomic neuropathy type II [ICD-11 More detail]
- Protein kinase, lysine-deficient 1 [OMIM gene]
- Pseudohypoaldosteronism type 2C [ORDO Disease]
- Pseudohypoaldosteronism, type iic [OMIM Phenotype]
- RELA proto-oncogene, NF-kB subunit [ORDO Gene]
- Synaptotagmin 1 [OMIM gene]
- Tao kinase 2 [OMIM gene]
- WNK lysine deficient protein kinase 1 [ORDO Gene]
- hereditary sensory and autonomic neuropathies [MeSH Descriptor]
- hereditary sensory and autonomic neuropathy type 2 [DO Concept]
- polysaccharide-K [MeSH Supplementary Concept]
OMIM relation
- Protein kinase, lysine-deficient 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Homeostatic Process [NCIt concept]
- Ion Transport Process [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]

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