Display Settings:

Format

Send to:

Choose Destination

SFTPC surfactant protein C [ Homo sapiens (human) ]

Gene ID: 6440, updated on 12-Dec-2014
Official Symbol
SFTPCprovided by HGNC
Official Full Name
surfactant protein Cprovided by HGNC
Primary source
HGNC:HGNC:10802
See related
Ensembl:ENSG00000168484; HPRD:01520; MIM:178620; Vega:OTTHUMG00000163775
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SP-C; PSP-C; SFTP2; SMDP2; BRICD6
Summary
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 and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 2, also called pulmonary alveolar proteinosis due to surfactant protein C deficiency, and are associated with interstitial lung disease in older infants, children, and adults. Alternatively spliced transcript variants encoding different protein isoforms have been identified.[provided by RefSeq, Feb 2010]
See SFTPC in Epigenomics, MapViewer
Location:
8p21
Exon count:
9
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 8 NC_000008.11 (22158721..22164479)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (22014853..22021992)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene receptor accessory protein 4 Neighboring gene leucine-rich repeat LGI family, member 3 Neighboring gene bone morphogenetic protein 1 Neighboring gene phytanoyl-CoA 2-hydroxylase interacting protein

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Idiopathic fibrosing alveolitis, chronic form
MedGen: C1800706 OMIM: 178500 GeneReviews: Pulmonary Fibrosis, Familial
Compare labs
Surfactant metabolism dysfunction, pulmonary, 2
MedGen: C1970470 OMIM: 610913 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cellular response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to nitric oxide IEA
Inferred from Electronic Annotation
more info
 
circadian rhythm IEA
Inferred from Electronic Annotation
more info
 
protein homooligomerization IEA
Inferred from Electronic Annotation
more info
 
respiratory gaseous exchange IEA
Inferred from Electronic Annotation
more info
 
response to cAMP IEA
Inferred from Electronic Annotation
more info
 
response to glucocorticoid IEA
Inferred from Electronic Annotation
more info
 
response to glucose IEA
Inferred from Electronic Annotation
more info
 
response to growth factor IEA
Inferred from Electronic Annotation
more info
 
response to hyperoxia IEA
Inferred from Electronic Annotation
more info
 
response to interleukin-6 IEA
Inferred from Electronic Annotation
more info
 
response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
response to retinoic acid IEA
Inferred from Electronic Annotation
more info
 
response to vitamin A IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
alveolar lamellar body IEA
Inferred from Electronic Annotation
more info
 
extracellular space IEA
Inferred from Electronic Annotation
more info
 
multivesicular body IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
pulmonary surfactant-associated protein C
Names
pulmonary surfactant-associated protein C
SP5
BRICHOS domain containing 6
pulmonary surfactant apoprotein-2 SP-C
pulmonary surfactant-associated proteolipid SPL(Val)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016968.1 

    Range
    5001..7809
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001172357.1NP_001165828.1  pulmonary surfactant-associated protein C isoform 2 proprotein

    See proteins identical to NP_001165828.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame segment in the 3' coding region and has an additional segment in the 3' UTR, as compared to variant 1. The transcript is longer than variant 1, but encodes a shorter isoform (2), as compared to isoform 1.
    Source sequence(s)
    BC105594, BM993053, J03553
    Consensus CDS
    CCDS55209.1
    UniProtKB/Swiss-Prot
    P11686
    Related
    ENSP00000430410, OTTHUMP00000224821, ENST00000521315, OTTHUMT00000375365
    Conserved Domains (3) summary
    pfam08999
    Location:193
    SP_C-Propep; Surfactant protein C, N terminal propeptide
    smart00019
    Location:1191
    SF_P; Pulmonary surfactant proteins
    pfam04089
    Location:94191
    BRICHOS; BRICHOS domain
  2. NM_001172410.1NP_001165881.1  pulmonary surfactant-associated protein C isoform 1 proprotein

    See proteins identical to NP_001165881.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an internal segment in the 3' UTR, as compared to variant 1. Both variants 1 and 2 encode the same isoform 1.
    Source sequence(s)
    AK315742, BC005913, BQ027183, J03553
    Consensus CDS
    CCDS43722.1
    UniProtKB/Swiss-Prot
    P11686
    Conserved Domains (3) summary
    pfam08999
    Location:193
    SP_C-Propep; Surfactant protein C, N terminal propeptide
    smart00019
    Location:1197
    SF_P; Pulmonary surfactant proteins
    pfam04089
    Location:94197
    BRICHOS; BRICHOS domain
  3. NM_003018.3NP_003009.2  pulmonary surfactant-associated protein C isoform 1 proprotein

    See proteins identical to NP_003009.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    BC105594, DB537043, J03517, J03553
    Consensus CDS
    CCDS43722.1
    UniProtKB/Swiss-Prot
    P11686
    Related
    ENSP00000316152, OTTHUMP00000224820, ENST00000318561, OTTHUMT00000375364
    Conserved Domains (3) summary
    pfam08999
    Location:193
    SP_C-Propep; Surfactant protein C, N terminal propeptide
    smart00019
    Location:1197
    SF_P; Pulmonary surfactant proteins
    pfam04089
    Location:94197
    BRICHOS; BRICHOS domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000008.11 

    Range
    22158721..22164479
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005273598.1XP_005273655.1  

    Conserved Domains (2) summary
    pfam08999
    Location:50142
    SP_C-Propep; Surfactant protein C, N terminal propeptide
    pfam04089
    Location:143196
    BRICHOS; BRICHOS domain
  2. XM_006716380.1XP_006716443.1  

    See proteins identical to XP_006716443.1

    Conserved Domains (3) summary
    pfam08999
    Location:193
    SP_C-Propep; Surfactant protein C, N terminal propeptide
    smart00019
    Location:1191
    SF_P; Pulmonary surfactant proteins
    pfam04089
    Location:94191
    BRICHOS; BRICHOS domain
  3. XM_006716379.1XP_006716442.1  

    See proteins identical to XP_006716442.1

    Conserved Domains (3) summary
    pfam08999
    Location:193
    SP_C-Propep; Surfactant protein C, N terminal propeptide
    smart00019
    Location:1191
    SF_P; Pulmonary surfactant proteins
    pfam04089
    Location:94191
    BRICHOS; BRICHOS domain

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 

    Range
    22220843..22223651
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000140.1 

    Range
    20561488..20564296
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)