SFTPC (surfactant protein C)

2013-12-01  

Identity

HGNC
SFTPC
LOCATION
8p21.3
LOCUSID
6440
ALIAS
BRICD6,PSP-C,SFTP2,SMDP2,SP-C,SP5
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
383451072024Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults.0
383451072024Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults.0
363242782023Inherited pulmonary surfactant metabolism disorders in Argentina: Differences between patients with SFTPC and ABCA3 variants.0
367365452023Decreased expression of surfactant Protein-C and CD74 in alveolar epithelial cells during influenza virus A(H1N1)pdm09 and H3N2 infection.1
363242782023Inherited pulmonary surfactant metabolism disorders in Argentina: Differences between patients with SFTPC and ABCA3 variants.0
367365452023Decreased expression of surfactant Protein-C and CD74 in alveolar epithelial cells during influenza virus A(H1N1)pdm09 and H3N2 infection.1
329624752022Association analysis of the surfactant protein-C gene to childhood asthma.0
340499512022Novel insights into surfactant protein C trafficking revealed through the study of a pathogenic mutant.8
350003062022[Familial interstitial lung disease associated with surfactant protein C gene mutation in adults: report of two cases and literature review].0
353264632022Multi-Design Differential Expression Profiling of COVID-19 Lung Autopsy Specimens Reveals Significantly Deregulated Inflammatory Pathways and SFTPC Impaired Transcription.4
354884632022Elevated serum TARC/CCL17 levels associated with childhood interstitial lung disease with SFTPC gene mutation.0
329624752022Association analysis of the surfactant protein-C gene to childhood asthma.0
340499512022Novel insights into surfactant protein C trafficking revealed through the study of a pathogenic mutant.8
350003062022[Familial interstitial lung disease associated with surfactant protein C gene mutation in adults: report of two cases and literature review].0
353264632022Multi-Design Differential Expression Profiling of COVID-19 Lung Autopsy Specimens Reveals Significantly Deregulated Inflammatory Pathways and SFTPC Impaired Transcription.4

Citation

Dessen P

SFTPC (surfactant protein C)

Atlas Genet Cytogenet Oncol Haematol. 2013-12-01

Online version: http://atlasgeneticsoncology.org/gene/53745/gene-fusions/haematological-explorer/