SFTPA2 wt Allele

Preferred Label : SFTPA2 wt Allele;

NCIt synonyms : SPA2; ILD2; SP-A; PSAP; Surfactant, Pulmonary-Associated Protein A2A Gene; PSPA; Surfactant, Pulmonary-Associated Protein A2 Gene; COLEC5; SP-2A; PSP-A; SFTP1; SFTPA2B; Surfactant Protein A2 wt Allele; SPAII;

NCIt definition : Human SFTPA2 wild-type allele is located in the vicinity of 10q22.3 and is approximately 5 kb in length. This allele, which encodes pulmonary surfactant-associated protein A2, is involved in respiration and the defense against respiratory pathogens. Mutation of the gene is associated with interstitial lung disease 2.;

NCI Metathesaurus CUI : CL1798657;

GenBank Accession Number : NM_001098668;

Details

Origin ID

C189770;

UMLS CUI

C5702837;

Automatic exact mappings (from CISMeF team)
- Mitochondrial carrier homolog 1 [OMIM gene]
- Prosaposin [OMIM gene]
- Spas [IAB term]
- Surface polypeptides, anonymous [OMIM Phenotype]
- Surfactant, pulmonary-associated protein a1 [OMIM gene]
- surfactant protein A1 [ORDO Gene]
- surfactant protein A2 [ORDO Gene]
OMIM relation
- Surfactant, pulmonary-associated protein a2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Surfactant, pulmonary-associated protein a2 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 10q22.3 [NCIt concept]
gene_is_element_in_pathway
- FOXA1 Transcription Factor Signaling Pathway [NCIt concept]
- Phagocytosis Pathway [NCIt concept]
gene_plays_role_in_process
- Lung Development [NCIt concept]
- Respiratory Process [NCIt concept]

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