SFTPA2 (surfactant protein A2)

2009-03-01  

Identity

HGNC
LOCATION
10q22.3
LOCUSID
ALIAS
COLEC5,PSAP,PSP-A,PSPA,SFTP1,SFTPA2B,SP-2A,SP-A,SPA2,SPAII
FUSION GENES

Other Information

Locus ID:

NCBI: 729238
MIM: 178642
HGNC: 10799
Ensembl: ENSG00000185303

Variants:

dbSNP: 729238
ClinVar: 729238
TCGA: ENSG00000185303
COSMIC: SFTPA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185303ENST00000372325Q8IWL1
ENSG00000185303ENST00000372327Q8IWL1
ENSG00000185303ENST00000417041X6REF7
ENSG00000185303ENST00000492049R4GMN3
ENSG00000185303ENST00000640627A0A1W2PR89

Expression (GTEx)

0
500
1000
1500
2000

Pathways

PathwaySourceExternal ID
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
PertussisKEGGko05133
PertussisKEGGhsa05133
Metabolism of proteinsREACTOMER-HSA-392499
DiseaseREACTOMER-HSA-1643685
Disorders of transmembrane transportersREACTOMER-HSA-5619115
ABC transporter disordersREACTOMER-HSA-5619084
Diseases of metabolismREACTOMER-HSA-5668914
Diseases associated with surfactant metabolismREACTOMER-HSA-5687613
Defective SFTPA2 causes idiopathic pulmonary fibrosis (IPF)REACTOMER-HSA-5687868
Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)REACTOMER-HSA-5688890
Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)REACTOMER-HSA-5688849
Surfactant metabolismREACTOMER-HSA-5683826
Defective ABCA3 causes pulmonary surfactant metabolism dysfunction type 3 (SMDP3)REACTOMER-HSA-5683678

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
195433692009Comprehensive linkage and association analyses identify haplotype, near to the TNFSF15 gene, significantly associated with spondyloarthritis.20
199146372010Surfactant protein A2 polymorphisms and disease severity in a respiratory syncytial virus-infected population.20
184873602008TTF-1 response element is critical for temporal and spatial regulation and necessary for hormonal regulation of human surfactant protein-A2 promoter activity.9
204484392010Polymorphisms in the surfactant protein a gene are associated with the susceptibility to recurrent urinary tract infection in chinese women.8
216010132011SP-A1, SP-A2 and SP-D gene polymorphisms in severe acute respiratory syncytial infection in Chilean infants.8
188280582008The concentration of surfactant protein-A in amniotic fluid decreases in spontaneous human parturition at term.7
189834392009Surfactant protein A and D gene polymorphisms and protein expression in victims of sudden infant death.2
249603342014Eosinophil-associated lung diseases. A cry for surfactant proteins A and D help?2
269509922015[ASSOCIATION OF POLYMORPHISM GENES OF SURFACTANT PROTEINS IN PATIENTS WITH INFLUENZA].2

Citation

Dessen P

SFTPA2 (surfactant protein A2)

Atlas Genet Cytogenet Oncol Haematol. 2009-03-01

Online version: http://atlasgeneticsoncology.org/gene/50697/sftpa2-(surfactant-protein-a2)