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    SFTPB surfactant protein B [ Homo sapiens (human) ]

    Gene ID: 6439, updated on 3-Apr-2024

    Summary

    Official Symbol
    SFTPBprovided by HGNC
    Official Full Name
    surfactant protein Bprovided by HGNC
    Primary source
    HGNC:HGNC:10801
    See related
    Ensembl:ENSG00000168878 MIM:178640; AllianceGenome:HGNC:10801
    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-B; PSP-B; SFTB3; SFTP3; SMDP1
    Summary
    This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic 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. The SPB enhances the rate of spreading and increases the stability of surfactant monolayers in vitro. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 1, also called pulmonary alveolar proteinosis due to surfactant protein B deficiency, and are associated with fatal respiratory distress in the neonatal period. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, Feb 2010]
    Expression
    Restricted expression toward lung (RPKM 1420.4) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SFTPB in Genome Data Viewer
    Location:
    2p11.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (85657307..85668741, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (85659365..85670797, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (85884430..85895864, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11705 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11706 Neighboring gene transmembrane protein 150A Neighboring gene ubiquitin specific peptidase 39 Neighboring gene chromosome 2 open reading frame 68 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:85838960-85839341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16134 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:85839517-85839689 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16135 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16137 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16138 Neighboring gene uncharacterized LOC105374842 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:85914228-85914730 Neighboring gene GPR160 pseudogene 1

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in animal organ morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in respiratory gaseous exchange by respiratory system IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sphingolipid metabolic process 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
     
    located_in lamellar body TAS
    Traceable Author Statement
    more info
     
    located_in lysosome IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in multivesicular body IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in multivesicular body lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    pulmonary surfactant-associated protein B
    Names
    18 kDa pulmonary-surfactant protein
    6 kDa protein
    pulmonary surfactant-associated proteolipid SPL(Phe)

    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_016967.1 RefSeqGene

      Range
      5543..16428
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000542.5NP_000533.4  pulmonary surfactant-associated protein B isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC012454, J02761
      Consensus CDS
      CCDS1983.3
      UniProtKB/Swiss-Prot
      P07988, Q96R04
      UniProtKB/TrEMBL
      B2RC55
      Related
      ENSP00000428719.2, ENST00000519937.7
      Conserved Domains (2) summary
      smart00741
      Location:67143
      SapB; Saposin (B) Domains
      cl02494
      Location:2861
      SapA; Saposin A-type domain
    2. NM_001367281.1NP_001354210.1  pulmonary surfactant-associated protein B isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AC012454
      UniProtKB/TrEMBL
      B2RC55
      Conserved Domains (2) summary
      smart00741
      Location:67143
      SapB; Saposin (B) Domains
      cl02494
      Location:2861
      SapA; Saposin A-type domain
    3. NM_198843.3NP_942140.3  pulmonary surfactant-associated protein B isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC012454
      Consensus CDS
      CCDS1983.3
      UniProtKB/Swiss-Prot
      P07988, Q96R04
      UniProtKB/TrEMBL
      B2RC55
      Related
      ENSP00000386346.2, ENST00000409383.6
      Conserved Domains (2) summary
      smart00741
      Location:67143
      SapB; Saposin (B) Domains
      cl02494
      Location:2861
      SapA; Saposin A-type domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      85657307..85668741 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445414.1XP_047301370.1  pulmonary surfactant-associated protein B isoform X1

      Related
      ENSP00000377409.4, ENST00000393822.7
    2. XM_047445415.1XP_047301371.1  pulmonary surfactant-associated protein B isoform X2

      Related
      ENSP00000415347.1, ENST00000428225.5
    3. XM_005264488.5XP_005264545.2  pulmonary surfactant-associated protein B isoform X2

      UniProtKB/TrEMBL
      B2RC55
      Conserved Domains (4) summary
      smart00741
      Location:67143
      SapB; Saposin (B) Domains
      pfam03489
      Location:112143
      SapB_2; Saposin-like type B, region 2
      pfam05184
      Location:69103
      SapB_1; Saposin-like type B, region 1
      cl02494
      Location:2861
      SapA; Saposin A-type domain
    4. XM_005264490.5XP_005264547.2  pulmonary surfactant-associated protein B isoform X3

      UniProtKB/TrEMBL
      B2RC55
      Conserved Domains (4) summary
      smart00741
      Location:67143
      SapB; Saposin (B) Domains
      pfam03489
      Location:112143
      SapB_2; Saposin-like type B, region 2
      pfam05184
      Location:69103
      SapB_1; Saposin-like type B, region 1
      cl02494
      Location:2861
      SapA; Saposin A-type domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      85659365..85670797 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343371.1XP_054199346.1  pulmonary surfactant-associated protein B isoform X1

    2. XM_054343372.1XP_054199347.1  pulmonary surfactant-associated protein B isoform X2

    3. XM_054343373.1XP_054199348.1  pulmonary surfactant-associated protein B isoform X2

    4. XM_054343374.1XP_054199349.1  pulmonary surfactant-associated protein B isoform X3