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SFTPC surfactant protein C [ Homo sapiens (human) ]

Gene ID: 6440, updated on 17-May-2023

Summary

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Official Symbol
SFTPCprovided by HGNC
Official Full Name
surfactant protein Cprovided by HGNC
Primary source
HGNC:HGNC:10802
See related
Ensembl:ENSG00000168484 MIM:178620; AllianceGenome:HGNC:10802
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
SP5; 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]
Expression
Restricted expression toward lung (RPKM 8558.2) See more
Orthologs
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Genomic context

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See SFTPC in Genome Data Viewer
Location:
8p21.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (22157383..22164479)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (22431328..22438424)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (22014896..22021992)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene leucine rich repeat LGI family member 3 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 8:22014424 Neighboring gene bone morphogenetic protein 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:22031123-22031622 Neighboring gene uncharacterized LOC124901904 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22046165-22046665

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Elevated serum TARC/CCL17 levels associated with childhood interstitial lung disease with SFTPC gene mutation. Otsubo Y, et al. Pediatr Pulmonol, 2022 Jul. PMID 35488463
  2. Multi-Design Differential Expression Profiling of COVID-19 Lung Autopsy Specimens Reveals Significantly Deregulated Inflammatory Pathways and SFTPC Impaired Transcription. Fassan M, et al. Cells, 2022 Mar 16. PMID 35326463, Free PMC Article
  3. [Familial interstitial lung disease associated with surfactant protein C gene mutation in adults: report of two cases and literature review]. Wu TT, et al. Zhonghua Jie He He Hu Xi Za Zhi, 2022 Jan 12. PMID 35000306
  4. Possible association between SP-C mutations and lung cancer: Two case reports and review of literature. Darawshy F, et al. Cancer Treat Res Commun, 2021. PMID 34600418
  5. Patient-specific iPSCs carrying an SFTPC mutation reveal the intrinsic alveolar epithelial dysfunction at the inception of interstitial lung disease. Alysandratos KD, et al. Cell Rep, 2021 Aug 31. PMID 34469722, Free PMC Article

See all (137) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Decreased expression of surfactant Protein-C and CD74 in alveolar epithelial cells during influenza virus A(H1N1)pdm09 and H3N2 infection.
    Title: Decreased expression of surfactant Protein-C and CD74 in alveolar epithelial cells during influenza virus A(H1N1)pdm09 and H3N2 infection.
  2. Inherited pulmonary surfactant metabolism disorders in Argentina: Differences between patients with SFTPC and ABCA3 variants.
    Title: Inherited pulmonary surfactant metabolism disorders in Argentina: Differences between patients with SFTPC and ABCA3 variants.
  3. Elevated serum TARC/CCL17 levels associated with childhood interstitial lung disease with SFTPC gene mutation.
    Title: Elevated serum TARC/CCL17 levels associated with childhood interstitial lung disease with SFTPC gene mutation.
  4. Possible association between SP-C mutations and lung cancer: Two case reports and review of literature.
    Title: Possible association between SP-C mutations and lung cancer: Two case reports and review of literature.
  5. Association analysis of the surfactant protein-C gene to childhood asthma.
    Title: Association analysis of the surfactant protein-C gene to childhood asthma.
  6. Multi-Design Differential Expression Profiling of COVID-19 Lung Autopsy Specimens Reveals Significantly Deregulated Inflammatory Pathways and SFTPC Impaired Transcription.
    Title: Multi-Design Differential Expression Profiling of COVID-19 Lung Autopsy Specimens Reveals Significantly Deregulated Inflammatory Pathways and SFTPC Impaired Transcription.
  7. Patient-specific iPSCs carrying an SFTPC mutation reveal the intrinsic alveolar epithelial dysfunction at the inception of interstitial lung disease.
    Title: Patient-specific iPSCs carrying an SFTPC mutation reveal the intrinsic alveolar epithelial dysfunction at the inception of interstitial lung disease.
  8. Novel insights into surfactant protein C trafficking revealed through the study of a pathogenic mutant.
    Title: Novel insights into surfactant protein C trafficking revealed through the study of a pathogenic mutant.
  9. [Familial interstitial lung disease associated with surfactant protein C gene mutation in adults: report of two cases and literature review].
    Title: [Familial interstitial lung disease associated with surfactant protein C gene mutation in adults: report of two cases and literature review].
  10. Familial Pulmonary Fibrosis: Genetic Features and Clinical Implications.
    Title: Familial Pulmonary Fibrosis: Genetic Features and Clinical Implications.
Submit: New GeneRIF Correction See all GeneRIFs (99)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Interstitial lung disease 2
MedGen: C5561926 OMIM: 178500 GeneReviews: Pulmonary Fibrosis Predisposition Overview
Compare labs
Surfactant metabolism dysfunction, pulmonary, 2
MedGen: C1970470 OMIM: 610913 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in respiratory gaseous exchange by respiratory system IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in alveolar lamellar body IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in clathrin-coated endocytic vesicle TAS
Traceable Author Statement
more info
  
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in extracellular region TAS
Traceable Author Statement
more info
  
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in lamellar body TAS
Traceable Author Statement
more info
  
located_in multivesicular body lumen TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
pulmonary surfactant-associated protein C
Names
BRICHOS domain containing 6
pulmonary surfactant apoprotein-2 SP-C
pulmonary surfactant-associated proteolipid SPL(Val)

NCBI Reference Sequences (RefSeq)

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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 RefSeqGene

    Range
    5128..7809
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_001165828.1

    Status: REVIEWED

    Source sequence(s)
    BC105594, BM993053
    Consensus CDS
    CCDS55209.1
    UniProtKB/Swiss-Prot
    P11686
    UniProtKB/TrEMBL
    A0A0A0MTC9
    Related
    ENSP00000430410.1, ENST00000521315.5
    Conserved Domains (1) summary
    smart00019
    Location:1 → 191
    SF_P; Pulmonary surfactant proteins

  2. NM_001172410.2 → NP_001165881.1  pulmonary surfactant-associated protein C isoform 1 precursor

    See identical proteins and their annotated locations for NP_001165881.1

    Status: REVIEWED

    Source sequence(s)
    AK315742, BC005913, BQ027183
    Consensus CDS
    CCDS43722.1
    UniProtKB/Swiss-Prot
    P11686
    UniProtKB/TrEMBL
    A0A0S2Z4Q0
    Conserved Domains (1) summary
    smart00019
    Location:1 → 197
    SF_P; Pulmonary surfactant proteins

  3. NM_001317778.2 → NP_001304707.1  pulmonary surfactant-associated protein C isoform 2

    Status: REVIEWED

    Source sequence(s)
    BF433929, BG569816, BQ027183
    Consensus CDS
    CCDS55209.1
    UniProtKB/Swiss-Prot
    P11686
    UniProtKB/TrEMBL
    A0A0A0MTC9
    Related
    ENSP00000505152.1, ENST00000679463.1
    Conserved Domains (1) summary
    smart00019
    Location:1 → 191
    SF_P; Pulmonary surfactant proteins

  4. NM_001317779.2 → NP_001304708.1  pulmonary surfactant-associated protein C isoform 3

    Status: REVIEWED

    Source sequence(s)
    BF433929, BI490051, BQ027183, J03553
    Consensus CDS
    CCDS83259.1
    UniProtKB/Swiss-Prot
    P11686
    UniProtKB/TrEMBL
    E5RI64
    Related
    ENSP00000429619.1, ENST00000523296.1
    Conserved Domains (1) summary
    smart00019
    Location:1 → 144
    SF_P; Pulmonary surfactant proteins

  5. NM_001317780.2 → NP_001304709.1  pulmonary surfactant-associated protein C isoform 2

    Status: REVIEWED

    Source sequence(s)
    BG535994, BI524154, BQ027183, J03553
    Consensus CDS
    CCDS55209.1
    UniProtKB/Swiss-Prot
    P11686
    UniProtKB/TrEMBL
    A0A0A0MTC9
    Conserved Domains (1) summary
    smart00019
    Location:1 → 191
    SF_P; Pulmonary surfactant proteins

  6. NM_001385653.1 → NP_001372582.1  pulmonary surfactant-associated protein C isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC105206
    Consensus CDS
    CCDS43722.1
    UniProtKB/TrEMBL
    A0A0S2Z4Q0
    Conserved Domains (1) summary
    smart00019
    Location:1 → 197
    SF_P; Pulmonary surfactant proteins

  7. NM_001385654.1 → NP_001372583.1  pulmonary surfactant-associated protein C isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC105206
    Consensus CDS
    CCDS43722.1
    UniProtKB/TrEMBL
    A0A0S2Z4Q0
    Conserved Domains (1) summary
    smart00019
    Location:1 → 197
    SF_P; Pulmonary surfactant proteins

  8. NM_001385655.1 → NP_001372584.1  pulmonary surfactant-associated protein C isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC105206
    Consensus CDS
    CCDS43722.1
    UniProtKB/TrEMBL
    A0A0S2Z4Q0
    Conserved Domains (1) summary
    smart00019
    Location:1 → 197
    SF_P; Pulmonary surfactant proteins

  9. NM_001385656.1 → NP_001372585.1  pulmonary surfactant-associated protein C isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC105206
    Consensus CDS
    CCDS55209.1
    UniProtKB/TrEMBL
    A0A0A0MTC9
    Conserved Domains (1) summary
    smart00019
    Location:1 → 191
    SF_P; Pulmonary surfactant proteins

  10. NM_001385657.1 → NP_001372586.1  pulmonary surfactant-associated protein C isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC105206
    Consensus CDS
    CCDS55209.1
    UniProtKB/TrEMBL
    A0A0A0MTC9
    Conserved Domains (1) summary
    smart00019
    Location:1 → 191
    SF_P; Pulmonary surfactant proteins

  11. NM_001385658.1 → NP_001372587.1  pulmonary surfactant-associated protein C isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC105206
    Consensus CDS
    CCDS55209.1
    UniProtKB/TrEMBL
    A0A0A0MTC9
    Conserved Domains (1) summary
    smart00019
    Location:1 → 191
    SF_P; Pulmonary surfactant proteins

  12. NM_001385659.1 → NP_001372588.1  pulmonary surfactant-associated protein C isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC105206
    Consensus CDS
    CCDS55209.1
    UniProtKB/TrEMBL
    A0A0A0MTC9
    Conserved Domains (1) summary
    smart00019
    Location:1 → 191
    SF_P; Pulmonary surfactant proteins

  13. NM_001385660.1 → NP_001372589.1  pulmonary surfactant-associated protein C isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC105206
    Consensus CDS
    CCDS83259.1
    UniProtKB/TrEMBL
    E5RI64
    Conserved Domains (1) summary
    smart00019
    Location:1 → 144
    SF_P; Pulmonary surfactant proteins

  14. NM_003018.4 → NP_003009.2  pulmonary surfactant-associated protein C isoform 1 precursor

    See identical proteins and their annotated locations for NP_003009.2

    Status: REVIEWED

    Source sequence(s)
    BC105594, DB537043, J03517, J03553
    Consensus CDS
    CCDS43722.1
    UniProtKB/Swiss-Prot
    P11686
    UniProtKB/TrEMBL
    A0A0S2Z4Q0
    Related
    ENSP00000316152.3, ENST00000318561.7
    Conserved Domains (1) summary
    smart00019
    Location:1 → 197
    SF_P; Pulmonary surfactant proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    22157383..22164479
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544613.4 → XP_011542915.1  pulmonary surfactant-associated protein C isoform X1

    See identical proteins and their annotated locations for XP_011542915.1

    UniProtKB/TrEMBL
    E5RI64
    Related
    ENSP00000429552.1, ENST00000524255.5
    Conserved Domains (1) summary
    smart00019
    Location:1 → 144
    SF_P; Pulmonary surfactant proteins

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    22431328..22438424
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054361008.1 → XP_054216983.1  pulmonary surfactant-associated protein C isoform X1

    UniProtKB/TrEMBL
    E5RI64
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P11686.2 GenPept UniProtKB/Swiss-Prot:P11686

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