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 c... See more...

Aliases for SFTPB Gene

Aliases for SFTPB Gene

  • Surfactant Protein B 2 3 5
  • SP-B 2 3 4
  • Pulmonary Surfactant-Associated Proteolipid SPL(Phe) 3 4
  • Pulmonary Surfactant-Associated Protein B 3 4
  • 18 KDa Pulmonary-Surfactant Protein 3 4
  • 6 KDa Protein 3 4
  • SFTP3 3 4
  • Surfactant, Pulmonary-Associated Protein B 2
  • PSP-B 3
  • SFTB3 3
  • SMDP1 3
  • SFTPB 5

External Ids for SFTPB Gene

Previous HGNC Symbols for SFTPB Gene

  • SFTP3

Previous GeneCards Identifiers for SFTPB Gene

  • GC02M085783
  • GC02M086180
  • GC02M085842
  • GC02M085860
  • GC02M085858
  • GC02M085796
  • GC02M085738
  • GC02M085884
  • GC02M085781

Summaries for SFTPB Gene

Entrez Gene Summary for SFTPB Gene

  • 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]

GeneCards Summary for SFTPB Gene

SFTPB (Surfactant Protein B) is a Protein Coding gene. Diseases associated with SFTPB include Surfactant Metabolism Dysfunction, Pulmonary, 1 and Respiratory Distress Syndrome In Premature Infants. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Surfactant metabolism. An important paralog of this gene is PSAP.

UniProtKB/Swiss-Prot Summary for SFTPB Gene

  • Pulmonary surfactant-associated proteins promote alveolar stability by lowering the surface tension at the air-liquid interface in the peripheral air spaces. SP-B increases the collapse pressure of palmitic acid to nearly 70 millinewtons per meter.

Gene Wiki entry for SFTPB Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SFTPB Gene

Genomics for SFTPB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SFTPB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J085668 Promoter/Enhancer 0.7 EPDnew dbSUPER 600.7 +0.5 522 0.1 ZFHX2 EGR2 SFTPB lnc-GNLY-3 GNLY lnc-C2orf68-2 piR-60246-090 C2orf68
GH02J085669 Promoter/Enhancer 0.6 EPDnew dbSUPER 600.7 +0.0 25 0.1 ZNF398 SFTPB lnc-GNLY-3 lnc-C2orf68-2 C2orf68
GH02J085701 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 12.2 -35.6 -35562 6.4 CEBPG CREB1 GATAD2A CTCF ATF7 PRDM10 ZNF629 IKZF1 ZNF692 BACH1 ATOH8 GNLY GPR160P1 SFTPB C2orf68 USP39 RNU1-38P ENSG00000229498 VAMP8 SH2D6
GH02J085709 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 11.7 -43.0 -42999 4.4 CREB1 REST PKNOX1 SP1 GTF2F1 RFX1 HMBOX1 FOXA2 NR3C1 ATF3 lnc-GNLY-1 GNLY ATOH8 GPR160P1 SFTPB ENSG00000229498 RNU1-38P RF00003-043
GH02J085693 Promoter/Enhancer 1 EPDnew Ensembl ENCODE dbSUPER 12.1 -26.2 -26201 2.5 GNLY ATOH8 GPR160P1 SFTPB RNU1-38P ENSG00000229498 NONHSAG028398.2 lnc-GNLY-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SFTPB on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SFTPB

Top Transcription factor binding sites by QIAGEN in the SFTPB gene promoter:
  • Sp1
  • STAT3

Genomic Locations for SFTPB Gene

Genomic Locations for SFTPB Gene
chr2:85,657,307-85,668,741
(GRCh38/hg38)
Size:
11,435 bases
Orientation:
Minus strand
chr2:85,884,437-85,895,864
(GRCh37/hg19)
Size:
11,428 bases
Orientation:
Minus strand

Genomic View for SFTPB Gene

Genes around SFTPB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SFTPB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SFTPB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SFTPB Gene

Proteins for SFTPB Gene

  • Protein details for SFTPB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07988-PSPB_HUMAN
    Recommended name:
    Pulmonary surfactant-associated protein B
    Protein Accession:
    P07988
    Secondary Accessions:
    • Q96R04

    Protein attributes for SFTPB Gene

    Size:
    381 amino acids
    Molecular mass:
    42117 Da
    Quaternary structure:
    • Homodimer; disulfide-linked.
    SequenceCaution:
    • Sequence=AAA88099.1; Type=Erroneous initiation; Evidence={ECO:0000305};
    Miscellaneous:
    • Pulmonary surfactant consists of 90% lipid and 10% protein. There are 4 surfactant-associated proteins: 2 collagenous, carbohydrate-binding glycoproteins (SP-A and SP-D) and 2 small hydrophobic proteins (SP-B and SP-C).

    Three dimensional structures from OCA and Proteopedia for SFTPB Gene

neXtProt entry for SFTPB Gene

Post-translational modifications for SFTPB Gene

  • Glycosylation at Asn129 and Asn311
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SFTPB Gene

Domains & Families for SFTPB Gene

Gene Families for SFTPB Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for SFTPB Gene

InterPro:
Blocks:
  • Saposin B
  • Surfactant protein B
ProtoNet:

Suggested Antigen Peptide Sequences for SFTPB Gene

GenScript: Design optimal peptide antigens:
  • Surfactant, pulmonary-associated protein B, isoform CRA_a (D6W5L6_HUMAN)
  • Pulmonary surfactant-associated proteolipid SPL(Phe) (PSPB_HUMAN)
genes like me logo Genes that share domains with SFTPB: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SFTPB Gene

Function for SFTPB Gene

Molecular function for SFTPB Gene

UniProtKB/Swiss-Prot Function:
Pulmonary surfactant-associated proteins promote alveolar stability by lowering the surface tension at the air-liquid interface in the peripheral air spaces. SP-B increases the collapse pressure of palmitic acid to nearly 70 millinewtons per meter.
GENATLAS Biochemistry:
surfactant-associated glycoprotein b,pulmonary 3 (18kDa),expressed in the alveolar and non ciliated bronchiolar epithelial cells

Phenotypes From GWAS Catalog for SFTPB Gene

genes like me logo Genes that share phenotypes with SFTPB: view

Human Phenotype Ontology for SFTPB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SFTPB Gene

MGI Knock Outs for SFTPB:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SFTPB

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for SFTPB Gene

Localization for SFTPB Gene

Subcellular locations from UniProtKB/Swiss-Prot for SFTPB Gene

Secreted, extracellular space, surface film.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SFTPB gene
Compartment Confidence
extracellular 5
nucleus 4
endoplasmic reticulum 4
endosome 4
lysosome 3
plasma membrane 2
cytoskeleton 2
cytosol 2
mitochondrion 1
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SFTPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005764 lysosome IEA --
GO:0005771 multivesicular body IBA 21873635
genes like me logo Genes that share ontologies with SFTPB: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SFTPB Gene

Pathways & Interactions for SFTPB Gene

genes like me logo Genes that share pathways with SFTPB: view

SIGNOR curated interactions for SFTPB Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for SFTPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006665 sphingolipid metabolic process IEA --
GO:0007585 respiratory gaseous exchange IEA --
GO:0009887 animal organ morphogenesis TAS 10378403
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with SFTPB: view

Drugs & Compounds for SFTPB Gene

(31) Drugs for SFTPB Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(41) Additional Compounds for SFTPB Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SFTPB: view

Transcripts for SFTPB Gene

mRNA/cDNA for SFTPB Gene

3 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SFTPB

Alternative Splicing Database (ASD) splice patterns (SP) for SFTPB Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13
SP1: - - - - -
SP2: - - - - -
SP3: - - -
SP4: -
SP5: -
SP6:
SP7:

Relevant External Links for SFTPB Gene

GeneLoc Exon Structure for
SFTPB

Expression for SFTPB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SFTPB Gene

mRNA differential expression in normal tissues according to GTEx for SFTPB Gene

This gene is overexpressed in Lung (x51.2).

Protein differential expression in normal tissues from HIPED for SFTPB Gene

This gene is overexpressed in Lung (53.3), Lavage (8.3), and Heart (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SFTPB Gene



Protein tissue co-expression partners for SFTPB Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SFTPB

SOURCE GeneReport for Unigene cluster for SFTPB Gene:

Hs.512690

Evidence on tissue expression from TISSUES for SFTPB Gene

  • Lung(5)
  • Nervous system(4.4)
  • Intestine(2.5)
  • Heart(2.3)
  • Blood(2.2)
  • Thyroid gland(2.1)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SFTPB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • reproductive
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • ear
Thorax:
  • diaphragm
  • heart
  • lung
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with SFTPB: view

No data available for mRNA Expression by UniProt/SwissProt for SFTPB Gene

Orthologs for SFTPB Gene

This gene was present in the common ancestor of animals.

Orthologs for SFTPB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SFTPB 30
  • 98.25 (n)
Cow
(Bos Taurus)
Mammalia SFTPB 30 31
  • 82.67 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SFTPB 30 31
  • 80.38 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sftpb 30
  • 79.12 (n)
Mouse
(Mus musculus)
Mammalia Sftpb 30 17 31
  • 78.58 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SFTPB 31
  • 46 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SFTPB 31
  • 43 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SFTPB 31
  • 32 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sftpb 30
  • 52.18 (n)
Zebrafish
(Danio rerio)
Actinopterygii sftpba 31
  • 14 (a)
OneToMany
sftpbb 31
  • 14 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Sap-r 31
  • 5 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 9 (a)
OneToMany
Species where no ortholog for SFTPB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SFTPB Gene

ENSEMBL:
Gene Tree for SFTPB (if available)
TreeFam:
Gene Tree for SFTPB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SFTPB: view image

Paralogs for SFTPB Gene

Paralogs for SFTPB Gene

genes like me logo Genes that share paralogs with SFTPB: view

Variants for SFTPB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SFTPB Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
717895 Likely Benign: Surfactant metabolism dysfunction, pulmonary, 1; not provided 85,661,483(-) G/C MISSENSE_VARIANT,INTRON_VARIANT
721228 Likely Benign: Surfactant metabolism dysfunction, pulmonary, 1; not provided 85,667,684(-) C/T MISSENSE_VARIANT
725707 Likely Benign: not provided 85,665,636(-) G/T SYNONYMOUS_VARIANT
725729 Benign: not provided 85,665,370(-) G/A SYNONYMOUS_VARIANT
729110 Likely Benign: not provided 85,665,612(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for SFTPB Gene

Structural Variations from Database of Genomic Variants (DGV) for SFTPB Gene

Variant ID Type Subtype PubMed ID
esv2657560 CNV deletion 23128226
esv3559770 CNV deletion 23714750
nsv1116389 CNV deletion 24896259

Variation tolerance for SFTPB Gene

Residual Variation Intolerance Score: 93.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.06; 50.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SFTPB Gene

Human Gene Mutation Database (HGMD)
SFTPB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SFTPB

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SFTPB Gene

Disorders for SFTPB Gene

MalaCards: The human disease database

(41) MalaCards diseases for SFTPB Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search SFTPB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PSPB_HUMAN
  • Pulmonary surfactant metabolism dysfunction 1 (SMDP1) [MIM:265120]: A rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress. {ECO:0000269 PubMed:7491219}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Respiratory distress syndrome in premature infants (RDS) [MIM:267450]: A lung disease affecting usually premature newborn infants. It is characterized by deficient gas exchange, diffuse atelectasis, high-permeability lung edema and fibrin-rich alveolar deposits called 'hyaline membranes'. {ECO:0000269 PubMed:11063734}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry. A variation Ile to Thr at position 131 influences the association between specific alleles of SFTPA1 and respiratory distress syndrome in premature infants.

Additional Disease Information for SFTPB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SFTPB: view

No data available for Genatlas for SFTPB Gene

Publications for SFTPB Gene

  1. Polymorphisms of human SP-A, SP-B, and SP-D genes: association of SP-B Thr131Ile with ARDS. (PMID: 11076040) Lin Z … Floros J (Clinical genetics 2000) 3 4 23 41
  2. Surfactant proteins A and B as interactive genetic determinants of neonatal respiratory distress syndrome. (PMID: 11063734) Haataja R … Hallman M (Human molecular genetics 2000) 3 4 23 41
  3. [Genetic markers of predisposition to infectious complications in neonatal infants with respiratory distress syndrome]. (PMID: 19348329) Bogdanova RZ … Mironov PI (Anesteziologiia i reanimatologiia 2009) 3 23 41
  4. Polymorphic variation in surfactant protein B is associated with COPD exacerbations. (PMID: 18550614) Foreman MG … Silverman EK (The European respiratory journal 2008) 3 23 41
  5. Genetic polymorphisms in the surfactant proteins in systemic sclerosis in Japanese: T/T genotype at 1580 C/T (Thr131Ile) in the SP-B gene reduces the risk of interstitial lung disease. (PMID: 18263595) Sumita Y … Kamatani N (Rheumatology (Oxford, England) 2008) 3 23 41

Products for SFTPB Gene

Sources for SFTPB Gene