SFTPC wt Allele

Preferred Label : SFTPC wt Allele;

NCIt synonyms : SMDP2; Surfactant Protein C wt Allele; BRICHOS Domain Containing 6 Gene; SP-C; SP5; BRICD6; Surfactant-Associated, Pulmonary, 2 Gene; Surfactant, Pulmonary-Associated Protein C Gene; SFTP2; PSP-C;

NCIt definition : Human SFTPC wild-type allele is located the vicinity of 8p21.3 and is approximately 8 kb in length. This allele, which encodes pulmonary surfactant-associated protein C, is involved in lung function and homeostasis. Mutation of the gene is associated with pulmonary surfactant metabolism dysfunction type 2 (pulmonary alveolar proteinosis due to surfactant protein C deficiency).;

NCI Metathesaurus CUI : CL1798433;

GenBank Accession Number : NM_003018;

Details

Origin ID

C189754;

UMLS CUI

C5702581;

Automatic exact mappings (from CISMeF team)
- SP5 (body structure) [SNOMED CT concept]
- Surfactant metabolism dysfunction, pulmonary, 2 [OMIM Phenotype]
- Transcription factor sp5 [OMIM gene]
OMIM relation
- Surfactant, pulmonary-associated protein C [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Surfactant, pulmonary-associated protein C [OMIM gene]
- surfactant protein C [ORDO Gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 8p21.3 [NCIt concept]
gene_plays_role_in_process
- Lung Development [NCIt concept]
- Respiratory Process [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients