Surfactant, Pulmonary-Associated Protein A2

Alternative Names

  • SFTPA2
  • Pulmonary Surfactant Protein AII
  • SPAII
  • SPA2
  • Collectin 5
  • COLEC5

Associated Diseases

Interstitial Lung Disease 2
Back to search Result
OMIM Number

178642

NCBI Gene ID

729238

Uniprot ID

Q8IWL1

Length

4,556 bases

No. of Exons

7

No. of isoforms

1

Protein Name

Pulmonary surfactant-associated protein A2

Molecular Mass

26169 Da

Amino Acid Count

248

Genomic Location

chr10:79,555,851-79,560,406

Gene Map Locus
10q22.3

Description

This gene is one of several genes encoding pulmonary-surfactant associated proteins (SFTPA) located on chromosome 10. Mutations in this gene and a highly similar gene located nearby, which affect the highly conserved carbohydrate recognition domain, are associated with idiopathic pulmonary fibrosis. The current version of the assembly displays only a single centromeric SFTPA gene pair rather than the two gene pairs shown in the previous assembly which were thought to have resulted from a duplication. [provided by RefSeq, Sep 2009]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001098668.3:c.73G>AUnited Arab EmiratesNC_000010.11:g.79559411C>TLikely BenignNG_013046.1:g.5997G>A; NM_001098668.3:c.73G>A; NP_001092138.1:p.Val25Ile753973926
NM_001098668.4:c.542A>GUnited Arab EmiratesNC_000010.11:g.79557414T>CLikely PathogenicInterstitial Lung Disease 2NG_013046.1:g.7994A>G; NM_001098668.4:c.542A>G; NP_001092138.1:p.Tyr181Cys866707345
© CAGS 2024. All rights reserved.