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Aliases for SFTPB Gene

Aliases for SFTPB Gene

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

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 Sftpb-Related Pulmonary Surfactant Metabolism Dysfunction. Among its related pathways are Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4) and Diseases of metabolism. An important paralog of this gene is PSAP.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for SFTPB Gene

Genomics for SFTPB Gene

Regulatory Elements for SFTPB Gene

Enhancers for SFTPB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G085701 2 FANTOM5 Ensembl ENCODE dbSUPER 12.2 -35.7 -35698 6.7 HDGF FOXA2 PKNOX1 CREB3L1 ARNT WRNIP1 SIN3A ZNF2 YY1 ZNF766 ATOH8 GNLY LOC100130649 SFTPB C2orf68 USP39 RNU1-38P LOC284950 SH2D6 GC02M085730
GH02G085709 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.7 -42.9 -42880 4.7 PKNOX1 SIN3A RAD21 RARA YY1 ZNF335 HSF1 FOS EGR2 CEBPB GNLY ATOH8 LOC100130649 SFTPB LOC284950 RNU1-38P GC02M085730
GH02G085708 1.4 FANTOM5 Ensembl dbSUPER 13.3 -40.2 -40177 0.6 HDAC1 PKNOX1 SIN3A FEZF1 ZNF335 TCF12 GATA2 EGR1 FOS DEK ATOH8 SFTPB GNLY LOC284950 RNU1-38P GC02M085730 LOC100130649
GH02G085693 1.1 ENCODE dbSUPER 12 -25.4 -25439 1.0 HDAC1 ATF1 PKNOX1 TBL1XR1 ARNT RAD21 YY1 ZNF335 TCF12 ZNF766 GNLY SFTPB RNU1-38P ATOH8 LOC284950 LOC100130649 GC02M085730
GH02G085697 1 Ensembl dbSUPER 12.2 -29.4 -29416 2.3 BCOR HDGF PTBP1 ZMYM3 MAX RAD21 YY1 ZNF263 SMARCA5 MCM3 ATOH8 LOC100130649 SFTPB RNU1-38P LOC284950 RPS2P17 GC02M085730
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SFTPB on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the SFTPB gene promoter:

Genomic Location for SFTPB Gene

Chromosome:
2
Start:
85,657,314 bp from pter
End:
85,668,741 bp from pter
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.
    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).
    SequenceCaution:
    • Sequence=AAA88099.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SFTPB Gene

neXtProt entry for SFTPB Gene

Post-translational modifications for SFTPB Gene

  • Glycosylation at isoforms=129 and isoforms=311

No data available for DME Specific Peptides for SFTPB Gene

Domains & Families for SFTPB Gene

Protein Domains for SFTPB Gene

Suggested Antigen Peptide Sequences for SFTPB Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for Gene Families and UniProtKB/Swiss-Prot for SFTPB Gene

Function for SFTPB Gene

Molecular function for SFTPB Gene

GENATLAS Biochemistry:
surfactant-associated glycoprotein b,pulmonary 3 (18kDa),expressed in the alveolar and non ciliated bronchiolar epithelial cells
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.

Gene Ontology (GO) - Molecular Function for SFTPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001664 G-protein coupled receptor binding IBA --
GO:0008047 enzyme activator activity IBA --
genes like me logo Genes that share ontologies with SFTPB: view
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

Clone Products

  • R&D Systems cDNA Clones for SFTPB (SP-B/Surfactant Protein B)

No data available for Enzyme Numbers (IUBMB) , 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 5
endosome 5
endoplasmic reticulum 4
lysosome 3
cytoskeleton 2
plasma membrane 1
cytosol 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,IEA --
GO:0005654 nucleoplasm TAS --
GO:0005764 lysosome IEA --
GO:0005771 multivesicular body IBA --
genes like me logo Genes that share ontologies with SFTPB: view

Pathways & Interactions for SFTPB Gene

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

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 TAS,IEA --
GO:0009887 animal organ morphogenesis TAS 10378403
GO:0043085 positive regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with SFTPB: view

No data available for SIGNOR curated interactions for SFTPB Gene

Drugs & Compounds for SFTPB Gene

(28) Drugs for SFTPB Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(44) 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

Unigene Clusters for SFTPB Gene

Surfactant protein B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • R&D Systems cDNA Clones for SFTPB (SP-B/Surfactant Protein B)

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
ECgene alternative splicing isoforms for
SFTPB

Expression for SFTPB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for SFTPB Gene



Protein tissue co-expression partners for SFTPB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SFTPB Gene:

SFTPB

SOURCE GeneReport for Unigene cluster for SFTPB Gene:

Hs.512690

Evidence on tissue expression from TISSUES for SFTPB Gene

  • Lung(5)
  • Nervous system(4.2)

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
Organs:
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

Primer Products

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 34
  • 98.25 (n)
cow
(Bos Taurus)
Mammalia SFTPB 34 35
  • 82.67 (n)
dog
(Canis familiaris)
Mammalia SFTPB 34 35
  • 80.38 (n)
rat
(Rattus norvegicus)
Mammalia Sftpb 34
  • 79.12 (n)
mouse
(Mus musculus)
Mammalia Sftpb 34 16 35
  • 78.58 (n)
oppossum
(Monodelphis domestica)
Mammalia SFTPB 35
  • 46 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SFTPB 35
  • 43 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SFTPB 35
  • 32 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sftpb 34
  • 52.18 (n)
zebrafish
(Danio rerio)
Actinopterygii sftpba 35
  • 14 (a)
OneToMany
sftpbb 35
  • 14 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Sap-r 35
  • 5 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 9 (a)
OneToMany
Species where no ortholog for SFTPB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

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 from dbSNP and Humsavar for SFTPB Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs137853202 Pathogenic, Pulmonary surfactant metabolism dysfunction 1 (SMDP1) [MIM:265120] 85,663,814(-) TGTGC(C/T)GCGTG reference, missense
rs114238614 Likely benign 85,658,513(+) TTTAT(G/T)TATTT downstream-variant-500B, utr-variant-3-prime
rs115696450 Likely benign 85,657,855(+) ATGGC(A/G)GAGAG downstream-variant-500B, utr-variant-3-prime
rs147057701 Likely benign 85,668,141(+) CGTGG(-/GCA)GCAGC cds-indel
rs3024793 Likely benign 85,668,136(-) CCCAC(A/G)CTCTG reference, synonymous-codon

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)

Relevant External Links for SFTPB Gene

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

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

Disorders for SFTPB Gene

MalaCards: The human disease database

(33) MalaCards diseases for SFTPB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
surfactant metabolism dysfunction, pulmonary, 1
  • pap
sftpb-related pulmonary surfactant metabolism dysfunction
  • congenital pulmonary alveolar proteinosis 1
pulmonary surfactant metabolism dysfunction
  • interstitial lung disease
respiratory failure
  • acute and chronic respiratory failure
pulmonary alveolar proteinosis
- 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.

Relevant External Links for SFTPB

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

No data available for Genatlas for SFTPB Gene

Publications for SFTPB Gene

  1. Polymorphic variation in surfactant protein B is associated with COPD exacerbations. (PMID: 18550614) Foreman M.G. … Silverman E.K. (Eur. Respir. J. 2008) 3 22 46 64
  2. Genetic association analysis of functional impairment in chronic obstructive pulmonary disease. (PMID: 16456143) Hersh C.P. … Silverman E.K. (Am. J. Respir. Crit. Care Med. 2006) 3 22 46 64
  3. Family-based association tests suggest linkage between surfactant protein B (SP-B) (and flanking region) and respiratory distress syndrome (RDS): SP-B haplotypes and alleles from SP-B-linked loci are risk factors for RDS. (PMID: 16549540) Floros J. … Pavlovic J. (Pediatr. Res. 2006) 3 22 46 64
  4. Association between surfactant protein B + 1580 polymorphism and the risk of respiratory failure in adults with community-acquired pneumonia. (PMID: 15190959) Quasney M.W. … Wunderink R.G. (Crit. Care Med. 2004) 3 22 46 64
  5. Polymorphisms of human SP-A, SP-B, and SP-D genes: association of SP- B Thr131Ile with ARDS. (PMID: 11076040) Lin Z. … Floros J. (Clin. Genet. 2000) 3 4 46 64

Products for SFTPB Gene

Sources for SFTPB Gene

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