• Gene id: 6440

Gene Summary

• Gene Symbol: SFTPC   Gene   UCSC   Ensembl
• Aliases: BRICD6, PSP-C, SFTP2, SMDP2, SP-C, SP5
• Gene name: surfactant protein C
• Alternate names: pulmonary surfactant-associated protein C, BRICHOS domain containing 6, pulmonary surfactant apoprotein-2 SP-C, pulmonary surfactant-associated proteolipid SPL(Val),
• Gene location: 8p21.3 (22161732: 22164478)     Exons: 6     NC_000008.11
• Gene summary(Entrez): This gene encodes the pulmonary-associated surfactant protein C (SPC), an extremely hydrophobic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids
• OMIM: 603489

SNPs

rs12520985

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.133911770T>G
NC_000005.9   g.133247461T>G|SEQ=[T/G]|GENE=WSPAR

Protein Summary

• Protein general information: P11686  
  • Name: Pulmonary surfactant associated protein C (SP C) (Pulmonary surfactant associated proteolipid SPL(Val)) (SP5)
  • Length: 197  
  • Mass: 21053
• Sequence:

  MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGA
  PEAQQRLALSEHLVTTATFSIGSTGLVVYDYQQLLIAYKPAPGTCCYIMKIAPESIPSLEALNRKVHNFQMECSL
  QAKPAVPTSKLGQAEGRDAGSAPSGGDPAFLGMAVNTLCGEVPLYYI

• Structural information:
  • Protein Domains: (94..19-)
    (/note="BRICHOS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00255"-)
  • Interpro: IPR007084  IPR001729  IPR018051  IPR015091  
  • Prosite: PS50869 PS00341
  • PDB: 2YAD
  • PDBsum: 2YAD
  • DIP: 61551
  • STRING: ENSP00000316152
• Other Databases: GeneCards:  SFTPC  Malacards:  SFTPC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005615	extracellular space	IBA	cellular component
GO:0097208	alveolar lamellar body	IBA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0007585	respiratory gaseous exchange by respiratory system	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0007585	respiratory gaseous exchange by respiratory system	IEA	biological process
GO:0042599	lamellar body	TAS	cellular component
GO:0042599	lamellar body	TAS	cellular component
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0097486	multivesicular body lumen	TAS	cellular component
GO:0097486	multivesicular body lumen	TAS	cellular component
GO:0097486	multivesicular body lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0045334	clathrin-coated endocytic vesicle	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Congenital pulmonary alveolar proteinosis	KEGG:H01122
Idiopathic pulmonary fibrosis	KEGG:H01299
Congenital pulmonary alveolar proteinosis	KEGG:H01122
Idiopathic pulmonary fibrosis	KEGG:H01299
Adult respiratory distress syndrome	PMID:17662121
Adult respiratory distress syndrome	PMID:9720777
newborn respiratory distress syndrome	PMID:7537464
Cystic fibrosis	PMID:15271694
Asthma	PMID:16629790
Asthma	PMID:19910179
Interstitial lung disease	PMID:11445799
Interstitial lung disease	PMID:15756222
Chronic obstructive pulmonary disease	PMID:18038590
Pulmonary fibrosis	PMID:20656946
Lung disease	PMID:8569184
Lung disease	PMID:16910460
Lung disease	PMID:11207353
Pulmonary emphysema	PMID:18038590
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881