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

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000168484	ENST00000318561	P11686
ENSG00000168484	ENST00000318561	A0A0S2Z4Q0
ENSG00000168484	ENST00000437090	C9JYF6
ENSG00000168484	ENST00000520605	E5RG20
ENSG00000168484	ENST00000521315	A0A0A0MTC9
ENSG00000168484	ENST00000522109	E5RI92
ENSG00000168484	ENST00000523296	E5RHW5
ENSG00000168484	ENST00000524255	E5RI64

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Expression (GTEx)

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

Pathway	Source	External ID
ABC transporter disorders	REACTOME	R-HSA-5619084
Defective ABCA3 causes pulmonary surfactant metabolism dysfunction type 3 (SMDP3)	REACTOME	R-HSA-5683678
Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)	REACTOME	R-HSA-5688890
Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)	REACTOME	R-HSA-5688849
Defective pro-SFTPC causes pulmonary surfactant metabolism dysfunction 2 (SMDP2) and respiratory distress syndrome (RDS)	REACTOME	R-HSA-5688354
Disease	REACTOME	R-HSA-1643685
Diseases associated with surfactant metabolism	REACTOME	R-HSA-5687613
Diseases of metabolism	REACTOME	R-HSA-5668914
Disorders of transmembrane transporters	REACTOME	R-HSA-5619115
Metabolism of proteins	REACTOME	R-HSA-392499

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Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
32962475	2022	Association analysis of the surfactant protein-C gene to childhood asthma.	0
32962475	2022	Association analysis of the surfactant protein-C gene to childhood asthma.	0
34049951	2022	Novel insights into surfactant protein C trafficking revealed through the study of a pathogenic mutant.	8
34049951	2022	Novel insights into surfactant protein C trafficking revealed through the study of a pathogenic mutant.	8
35000306	2022	[Familial interstitial lung disease associated with surfactant protein C gene mutation in adults: report of two cases and literature review].	0
35000306	2022	[Familial interstitial lung disease associated with surfactant protein C gene mutation in adults: report of two cases and literature review].	0
35326463	2022	Multi-Design Differential Expression Profiling of COVID-19 Lung Autopsy Specimens Reveals Significantly Deregulated Inflammatory Pathways and SFTPC Impaired Transcription.	4
35326463	2022	Multi-Design Differential Expression Profiling of COVID-19 Lung Autopsy Specimens Reveals Significantly Deregulated Inflammatory Pathways and SFTPC Impaired Transcription.	4
35488463	2022	Elevated serum TARC/CCL17 levels associated with childhood interstitial lung disease with SFTPC gene mutation.	0
36324278	2023	Inherited pulmonary surfactant metabolism disorders in Argentina: Differences between patients with SFTPC and ABCA3 variants.	0

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Citation

Dessen P

SFTPC (surfactant protein C)

Atlas Genet Cytogenet Oncol Haematol. 2013-12-01

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