SFTA3 (surfactant associated 3)

2014-11-01  

Identity

HGNC
SFTA3
LOCATION
14q13.3
LOCUSID
253970
ALIAS
NANCI,SFTPH,SP-H,SPH
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 253970
MIM: 617860
HGNC: 18387
Ensembl: ENSG00000257520

Variants:

dbSNP: 253970
ClinVar: 253970
TCGA: ENSG00000257520
COSMIC: SFTA3

RNA/Proteins

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
DiseaseREACTOMER-HSA-1643685
Diseases of metabolismREACTOMER-HSA-5668914
Diseases associated with surfactant metabolismREACTOMER-HSA-5687613
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

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
247439702014SFTA3, a novel protein of the lung: three-dimensional structure, characterisation and immune activation.0
281632072017Expression of recombinant surfactant protein SFTA3 in the human kidney cell line HEK 293T.0
299550922018SFTA3 - a novel surfactant protein of the ocular surface and its role in corneal wound healing and tear film surface tension.0

Citation

Dessen P

SFTA3 (surfactant associated 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73172/sfta3