SFTPC (surfactant protein C)

2013-12-01  

Identity

HGNC
LOCATION
8p21.3
LOCUSID
ALIAS
BRICD6,PSP-C,SFTP2,SMDP2,SP-C,SP5
FUSION GENES

Other Information

Locus ID:

NCBI: 6440
MIM: 178620
HGNC: 10802
Ensembl: ENSG00000168484

Variants:

dbSNP: 6440
ClinVar: 6440
TCGA: ENSG00000168484
COSMIC: SFTPC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168484ENST00000318561P11686
ENSG00000168484ENST00000318561A0A0S2Z4Q0
ENSG00000168484ENST00000437090C9JYF6
ENSG00000168484ENST00000520605E5RG20
ENSG00000168484ENST00000521315A0A0A0MTC9
ENSG00000168484ENST00000522109E5RI92
ENSG00000168484ENST00000523296E5RHW5
ENSG00000168484ENST00000524255E5RI64

Expression (GTEx)

0
500
1000
1500
2000

Pathways

PathwaySourceExternal ID
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 pro-SFTPC causes pulmonary surfactant metabolism dysfunction 2 (SMDP2) and respiratory distress syndrome (RDS)REACTOMER-HSA-5688354
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
119918872002Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred.190
183908302008Endoplasmic reticulum stress in alveolar epithelial cells is prominent in IPF: association with altered surfactant protein processing and herpesvirus infection.158
177034122007Genetic susceptibility to respiratory syncytial virus bronchiolitis is predominantly associated with innate immune genes.100
155164752004Genetic mutations in surfactant protein C are a rare cause of sporadic cases of IPF.98
157784952005A surfactant protein C precursor protein BRICHOS domain mutation causes endoplasmic reticulum stress, proteasome dysfunction, and caspase 3 activation.97
206569462010Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort.81
192200772009Genetic disorders of surfactant dysfunction.71
211695552011Role of endoplasmic reticulum stress in epithelial-mesenchymal transition of alveolar epithelial cells: effects of misfolded surfactant protein.65
184009462008ERdj4 and ERdj5 are required for endoplasmic reticulum-associated protein degradation of misfolded surfactant protein C.64
136803612003Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis.61

Citation

Dessen P

SFTPC (surfactant protein C)

Atlas Genet Cytogenet Oncol Haematol. 2013-12-01

Online version: http://atlasgeneticsoncology.org/gene/53745/sftpc