TRPC6 wt Allele

Preferred Label : TRPC6 wt Allele;

NCIt synonyms : Transient Receptor Potential, Drosophila, Homolog of, 6 Gene; Focal Segmental Glomerulosclerosis 2 Gene; FSGS2; Transient Receptor Potential Cation Channel, Subfamily C, Member 6 Gene; TRP6; Transient Receptor Potential Cation Channel Subfamily C Member 6 wt Allele;

NCIt definition : Human TRPC6 wild-type allele is located in the vicinity of 11q22.1 and is approximately 421 kb in length. This allele, which encodes short transient receptor potential channel 6 protein, plays a role in calcium transport mediated by a diacylglycerol (DAG)/phosphatidylinositol second messenger system. Several point mutations in the gene are associated with focal segmental glomerulosclerosis 2.;

NCI Metathesaurus CUI : CL1794019;

GenBank Accession Number : AJ006276;

Details

Origin ID

C188873;

UMLS CUI

C5702587;

Automatic exact mappings (from CISMeF team)
- Focal segmental glomerulosclerosis 2 [OMIM Phenotype]
- Transient receptor potential cation channel, subfamily C, member 6 [OMIM gene]
- focal segmental glomerulosclerosis 2 [DO Concept]
- transient receptor potential cation channel subfamily C member 6 [ORDO Gene]
OMIM relation
- Transient receptor potential cation channel, subfamily C, member 6 [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_is_element_in_pathway
- Axon Guidance Pathway [NCIt concept]
gene_plays_role_in_process
- Homeostatic Process [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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