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    SFTPC surfactant protein C [ Homo sapiens (human) ]

    Gene ID: 6440, updated on 10-Dec-2024

    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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (22157383..22164479)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (22431328..22438424)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (22014896..22021992)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21997193-21997801 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21997802-21998409 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18980 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18981 Neighboring gene receptor accessory protein 4 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 8:22014424 Neighboring gene leucine rich repeat LGI family member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18982 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:22031123-22031622 Neighboring gene bone morphogenetic protein 1 Neighboring gene uncharacterized LOC124901904 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22046165-22046665 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:22048316-22049515 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:22052064-22053263 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22054519-22055286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22067676-22068367 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22068368-22069058 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22069059-22069750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22071895-22072757 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22077527-22078227 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22081363-22081865 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:22084886-22086085 Neighboring gene phytanoyl-CoA 2-hydroxylase interacting protein Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102823 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22089242-22089989

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults.
      Title: Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. Association analysis of the surfactant protein-C gene to childhood asthma.
      Title: Association analysis of the surfactant protein-C gene to childhood asthma.
    7. 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.
    8. 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.
    9. 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.
    10. [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].
    Submit: New GeneRIF Correction See all GeneRIFs (100)

    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
    		not available
    Surfactant metabolism dysfunction, pulmonary, 2
    MedGen: C1970470 OMIM: 610913 GeneReviews: Not available
    		not available

    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)

    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
    		  
    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
    		  
    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
    surfactant 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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    NEW Try the new Transcript table

    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  surfactant 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/TrEMBL
      C9JYF6
      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  surfactant 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
      A0A0A0MTC9, A6XNE4, B2RE00, E9PGX3, P11686, P11687, Q12793, Q7Z5D0
      UniProtKB/TrEMBL
      A0A0S2Z4Q0
      Conserved Domains (1) summary
      smart00019
      Location:1 → 197
      SF_P; Pulmonary surfactant proteins

    3. NM_001317778.2 → NP_001304707.1  surfactant protein C isoform 2

      Status: REVIEWED

      Source sequence(s)
      BF433929, BG569816, BQ027183
      Consensus CDS
      CCDS55209.1
      UniProtKB/TrEMBL
      C9JYF6
      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  surfactant protein C isoform 3

      Status: REVIEWED

      Source sequence(s)
      BF433929, BI490051, BQ027183, J03553
      Consensus CDS
      CCDS83259.1
      UniProtKB/TrEMBL
      E5RHW5, 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  surfactant protein C isoform 2

      Status: REVIEWED

      Source sequence(s)
      BG535994, BI524154, BQ027183, J03553
      Consensus CDS
      CCDS55209.1
      UniProtKB/TrEMBL
      C9JYF6
      Conserved Domains (1) summary
      smart00019
      Location:1 → 191
      SF_P; Pulmonary surfactant proteins

    6. NM_001385653.1 → NP_001372582.1  surfactant protein C isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC105206
      Consensus CDS
      CCDS43722.1
      UniProtKB/Swiss-Prot
      A0A0A0MTC9, A6XNE4, B2RE00, E9PGX3, P11686, P11687, Q12793, Q7Z5D0
      UniProtKB/TrEMBL
      A0A0S2Z4Q0
      Conserved Domains (1) summary
      smart00019
      Location:1 → 197
      SF_P; Pulmonary surfactant proteins

    7. NM_001385654.1 → NP_001372583.1  surfactant protein C isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC105206
      Consensus CDS
      CCDS43722.1
      UniProtKB/Swiss-Prot
      A0A0A0MTC9, A6XNE4, B2RE00, E9PGX3, P11686, P11687, Q12793, Q7Z5D0
      UniProtKB/TrEMBL
      A0A0S2Z4Q0
      Conserved Domains (1) summary
      smart00019
      Location:1 → 197
      SF_P; Pulmonary surfactant proteins

    8. NM_001385655.1 → NP_001372584.1  surfactant protein C isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC105206
      Consensus CDS
      CCDS43722.1
      UniProtKB/Swiss-Prot
      A0A0A0MTC9, A6XNE4, B2RE00, E9PGX3, P11686, P11687, Q12793, Q7Z5D0
      UniProtKB/TrEMBL
      A0A0S2Z4Q0
      Conserved Domains (1) summary
      smart00019
      Location:1 → 197
      SF_P; Pulmonary surfactant proteins

    9. NM_001385656.1 → NP_001372585.1  surfactant protein C isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC105206
      Consensus CDS
      CCDS55209.1
      UniProtKB/TrEMBL
      C9JYF6
      Conserved Domains (1) summary
      smart00019
      Location:1 → 191
      SF_P; Pulmonary surfactant proteins

    10. NM_001385657.1 → NP_001372586.1  surfactant protein C isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC105206
      Consensus CDS
      CCDS55209.1
      UniProtKB/TrEMBL
      C9JYF6
      Conserved Domains (1) summary
      smart00019
      Location:1 → 191
      SF_P; Pulmonary surfactant proteins

    11. NM_001385658.1 → NP_001372587.1  surfactant protein C isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC105206
      Consensus CDS
      CCDS55209.1
      UniProtKB/TrEMBL
      C9JYF6
      Conserved Domains (1) summary
      smart00019
      Location:1 → 191
      SF_P; Pulmonary surfactant proteins

    12. NM_001385659.1 → NP_001372588.1  surfactant protein C isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC105206
      Consensus CDS
      CCDS55209.1
      UniProtKB/TrEMBL
      C9JYF6
      Conserved Domains (1) summary
      smart00019
      Location:1 → 191
      SF_P; Pulmonary surfactant proteins

    13. NM_001385660.1 → NP_001372589.1  surfactant protein C isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC105206
      Consensus CDS
      CCDS83259.1
      UniProtKB/TrEMBL
      E5RHW5, E5RI64
      Conserved Domains (1) summary
      smart00019
      Location:1 → 144
      SF_P; Pulmonary surfactant proteins

    14. NM_003018.4 → NP_003009.2  surfactant 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
      A0A0A0MTC9, A6XNE4, B2RE00, E9PGX3, P11686, P11687, Q12793, Q7Z5D0
      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_2024_08

    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  surfactant protein C isoform X1

      See identical proteins and their annotated locations for XP_011542915.1

      UniProtKB/TrEMBL
      E5RHW5, 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  surfactant protein C isoform X1

      UniProtKB/TrEMBL
      E5RHW5, E5RI64
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P11686.3 GenPept UniProtKB/Swiss-Prot:P11686

    Gene LinkOut

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