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    SFTPB surfactant protein B [ Homo sapiens (human) ]

    Gene ID: 6439, updated on 14-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See SFTPB in Genome Data Viewer
    Location:
    2p11.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (85657307..85668741, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (85659365..85670797, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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. [Relationship between pulmonary surfactant-associated protein B polymorphisms and the susceptibility to neonatal respiratory distress syndrome]. Lu WC, et al. Zhongguo Dang Dai Er Ke Za Zhi, 2012 Jan. PMID 22289747
    2. Transcriptional stimulation of the surfactant protein B gene by STAT3 in respiratory epithelial cells. Yan C, et al. J Biol Chem, 2002 Mar 29. PMID 11788590
    3. Genetic determinants of C-reactive protein in COPD. Hersh CP, et al. Eur Respir J, 2006 Dec. PMID 16971405
    4. Surfactant protein B polymorphisms, pulmonary function and COPD in 10,231 individuals. Bækvad-Hansen M, et al. Eur Respir J, 2011 Apr. PMID 20693256
    5. Modifications to surfactant protein B structure and lipid interactions under respiratory distress conditions: consequences of tryptophan oxidation. Sarker M, et al. Biochemistry, 2011 Jan 11. PMID 21128671

    See all (159) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SFTPB (rs11130866) and NR3C1 (rs41423247) gene variants as potential clinical biomarkers for personalized treatment strategy selection in patients with severe COVID-19 pneumonia.
      Title: SFTPB (rs11130866) and NR3C1 (rs41423247) gene variants as potential clinical biomarkers for personalized treatment strategy selection in patients with severe COVID-19 pneumonia.
    2. Silica nanoparticle exposure inhibits surfactant protein A and B in A549 cells through ROS-mediated JNK/c-Jun signaling pathway.
      Title: Silica nanoparticle exposure inhibits surfactant protein A and B in A549 cells through ROS-mediated JNK/c-Jun signaling pathway.
    3. Pulmonary surfactant protein B carried by HDL predicts incident CVD in patients with type 1 diabetes.
      Title: Pulmonary surfactant protein B carried by HDL predicts incident CVD in patients with type 1 diabetes.
    4. Pulmonary surfactant-associated protein B regulates prostaglandin-endoperoxide synthase-2 and inflammation in chronic obstructive pulmonary disease.
      Title: Pulmonary surfactant-associated protein B regulates prostaglandin-endoperoxide synthase-2 and inflammation in chronic obstructive pulmonary disease.
    5. A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.
      Title: A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.
    6. Regulatory Roles of Human Surfactant Protein B Variants on Genetic Susceptibility to Pseudomonas Aeruginosa Pneumonia-Induced Sepsis.
      Title: Regulatory Roles of Human Surfactant Protein B Variants on Genetic Susceptibility to Pseudomonas Aeruginosa Pneumonia-Induced Sepsis.
    7. Clinical-pathological and molecular characterization of long-term survivors with advanced non-small cell lung cancer.
      Title: Clinical-pathological and molecular characterization of long-term survivors with advanced non-small cell lung cancer.
    8. Immunohistochemical findings in the lungs of COVID-19 subjects: evidence of surfactant dysregulation.
      Title: Immunohistochemical findings in the lungs of COVID-19 subjects: evidence of surfactant dysregulation.
    9. A primate-specific RNA-binding protein (RBMXL3) is involved in glucocorticoid regulation of human pulmonary surfactant protein B (SP-B) mRNA stability.
      Title: A primate-specific RNA-binding protein (RBMXL3) is involved in glucocorticoid regulation of human pulmonary surfactant protein B (SP-B) mRNA stability.
    10. Surfactant Expression Defines an Inflamed Subtype of Lung Adenocarcinoma Brain Metastases that Correlates with Prolonged Survival.
      Title: Surfactant Expression Defines an Inflamed Subtype of Lung Adenocarcinoma Brain Metastases that Correlates with Prolonged Survival.
    Submit: New GeneRIF Correction See all GeneRIFs (112)

    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
    Surfactant metabolism dysfunction, pulmonary, 1
    MedGen: C1968602 OMIM: 265120 GeneReviews: Not available
    		not available

    Variation

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    See Variation Viewer (GRCh37.p13)

    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 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
    		  
    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 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

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    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)

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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_016967.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_000542.5 → NP_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:67 → 143
      SapB; Saposin (B) Domains
      cl02494
      Location:28 → 61
      SapA; Saposin A-type domain

    2. NM_001367281.1 → NP_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:67 → 143
      SapB; Saposin (B) Domains
      cl02494
      Location:28 → 61
      SapA; Saposin A-type domain

    3. NM_198843.3 → NP_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:67 → 143
      SapB; Saposin (B) Domains
      cl02494
      Location:28 → 61
      SapA; Saposin A-type domain

    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_000002.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

      Related
      ENSP00000377409.4, ENST00000393822.7

    2. XM_047445415.1 → XP_047301371.1  pulmonary surfactant-associated protein B isoform X2

      Related
      ENSP00000415347.1, ENST00000428225.5

    3. XM_005264488.5 → XP_005264545.2  pulmonary surfactant-associated protein B isoform X2

      UniProtKB/TrEMBL
      B2RC55
      Conserved Domains (4) summary
      smart00741
      Location:67 → 143
      SapB; Saposin (B) Domains
      pfam03489
      Location:112 → 143
      SapB_2; Saposin-like type B, region 2
      pfam05184
      Location:69 → 103
      SapB_1; Saposin-like type B, region 1
      cl02494
      Location:28 → 61
      SapA; Saposin A-type domain

    4. XM_005264490.5 → XP_005264547.2  pulmonary surfactant-associated protein B isoform X3

      UniProtKB/TrEMBL
      B2RC55
      Conserved Domains (4) summary
      smart00741
      Location:67 → 143
      SapB; Saposin (B) Domains
      pfam03489
      Location:112 → 143
      SapB_2; Saposin-like type B, region 2
      pfam05184
      Location:69 → 103
      SapB_1; Saposin-like type B, region 1
      cl02494
      Location:28 → 61
      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_054343371.1 → XP_054199346.1  pulmonary surfactant-associated protein B isoform X1

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

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

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

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P07988.3 GenPept UniProtKB/Swiss-Prot:P07988

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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