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    SFTPC surfactant protein C [ Homo sapiens (human) ]

    Gene ID: 6440, updated on 8-Jul-2021

    Summary

    Official Symbol
    SFTPCprovided by HGNC
    Official Full Name
    surfactant protein Cprovided by HGNC
    Primary source
    HGNC:HGNC:10802
    See related
    Ensembl:ENSG00000168484 MIM:178620
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See SFTPC in Genome Data Viewer
    Location:
    8p21.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (22157383..22164479)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (22014896..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 Sharpr-MPRA regulatory region 2962 Neighboring gene phytanoyl-CoA 2-hydroxylase interacting protein

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    GeneReviews: Not available
    Idiopathic Pulmonary Fibrosis Compare labs
    Surfactant metabolism dysfunction, pulmonary, 2
    MedGen: C1970470 OMIM: 610913 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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

    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)

    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_001172357.2NP_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:1191
      SF_P; Pulmonary surfactant proteins
    2. NM_001172410.2NP_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:1197
      SF_P; Pulmonary surfactant proteins
    3. NM_001317778.2NP_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:1191
      SF_P; Pulmonary surfactant proteins
    4. NM_001317779.2NP_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:1144
      SF_P; Pulmonary surfactant proteins
    5. NM_001317780.2NP_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:1191
      SF_P; Pulmonary surfactant proteins
    6. NM_001385653.1NP_001372582.1  pulmonary surfactant-associated protein C isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC105206
      Conserved Domains (1) summary
      smart00019
      Location:1197
      SF_P; Pulmonary surfactant proteins
    7. NM_001385654.1NP_001372583.1  pulmonary surfactant-associated protein C isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC105206
      Conserved Domains (1) summary
      smart00019
      Location:1197
      SF_P; Pulmonary surfactant proteins
    8. NM_001385655.1NP_001372584.1  pulmonary surfactant-associated protein C isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC105206
      Conserved Domains (1) summary
      smart00019
      Location:1197
      SF_P; Pulmonary surfactant proteins
    9. NM_001385656.1NP_001372585.1  pulmonary surfactant-associated protein C isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC105206
      Conserved Domains (1) summary
      smart00019
      Location:1191
      SF_P; Pulmonary surfactant proteins
    10. NM_001385657.1NP_001372586.1  pulmonary surfactant-associated protein C isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC105206
      Conserved Domains (1) summary
      smart00019
      Location:1191
      SF_P; Pulmonary surfactant proteins
    11. NM_001385658.1NP_001372587.1  pulmonary surfactant-associated protein C isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC105206
      Conserved Domains (1) summary
      smart00019
      Location:1191
      SF_P; Pulmonary surfactant proteins
    12. NM_001385659.1NP_001372588.1  pulmonary surfactant-associated protein C isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC105206
      Conserved Domains (1) summary
      smart00019
      Location:1191
      SF_P; Pulmonary surfactant proteins
    13. NM_001385660.1NP_001372589.1  pulmonary surfactant-associated protein C isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC105206
      Conserved Domains (1) summary
      smart00019
      Location:1144
      SF_P; Pulmonary surfactant proteins
    14. NM_003018.4NP_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:1197
      SF_P; Pulmonary surfactant proteins

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011544613.3XP_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:1144
      SF_P; Pulmonary surfactant proteins
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