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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
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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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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
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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 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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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

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