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SFTPB Gene

protein-coding   GIFtS: 55
GCID: GC02M085884

Surfactant Protein B

(Previous names: surfactant, pulmonary-associated protein B)
(Previous symbol: SFTP3)
  See SFTPB-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Surfactant Protein B1 2     SFTB32 5
SFTP31 2 3     SMDP12 5
Pulmonary Surfactant-Associated Proteolipid SPL(Phe)2 3     Surfactant, Pulmonary-Associated Protein B1
18 KDa Pulmonary-Surfactant Protein2 3     PSP-B2
6 KDa Protein2 3     Pulmonary Surfactant-Associated Protein B2
SP-B2 3     

External Ids:    HGNC: 108011   Entrez Gene: 64392   Ensembl: ENSG000001688787   OMIM: 1786405   UniProtKB: P079883   

Export aliases for SFTPB gene to outside databases

Previous GC identifers: GC02M085783 GC02M086180 GC02M085842 GC02M085860 GC02M085858 GC02M085796 GC02M085738 GC02M085781


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 respiratory failure, and surfactant metabolism dysfunction, pulmonary, 1. An important paralog of this gene is PSAPL1.

UniProtKB/Swiss-Prot: PSPB_HUMAN, P07988
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 Wiki entry for SFTPB (Pulmonary surfactant-associated protein B) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SFTPB gene promoter:
         Sp1   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSFTPB promoter sequence
   Search Chromatin IP Primers for SFTPB

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SFTPB


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p12-p11.2   Ensembl cytogenetic band:  2p11.2   HGNC cytogenetic band: 2p12-p11.2

SFTPB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SFTPB gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M085884:  view genomic region     (about GC identifiers)

Start:
85,884,437 bp from pter      End:
85,895,864 bp from pter
Size:
11,428 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PSPB_HUMAN, P07988 (See protein sequence)
Recommended Name: Pulmonary surfactant-associated protein B precursor  
Size: 381 amino acids; 42117 Da
Subunit: 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)
Sequence caution: Sequence=AAA88099.1; Type=Erroneous initiation;
Selected PDB 3D structures from and Proteopedia for SFTPB (see all 8):
1DFW (3D)        1KMR (3D)        1RG3 (3D)        1RG4 (3D)        1SSZ (3D)        2DWF (3D)    
Secondary accessions: Q96R04

Explore the universe of human proteins at neXtProt for SFTPB: NX_P07988

Explore proteomics data for SFTPB at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn129, Asn311

  • See SFTPB Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000533.3  NP_942140.2  

    ENSEMBL proteins: 
     ENSP00000428719   ENSP00000415347   ENSP00000386346   ENSP00000476194   ENSP00000377409  
     ENSP00000345161  

    SFTPB Human Recombinant Protein Products:

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    OriGene Purified Protein for SFTPB
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    OriGene MassSpec for SFTPB
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    GenScript Custom Purified and Recombinant Proteins Services for SFTPB
    Novus Biologicals SFTPB Protein
    Novus Biologicals SFTPB Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for SFTPB 

    SFTPB Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SFTPB
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    Abcam antibodies for SFTPB
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for SFTPB
    LSBio Antibodies in human, mouse, rat for SFTPB

    SFTPB Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for SFTPB 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR008138 SapB_2
     IPR003119 SapA
     IPR011001 Saposin-like
     IPR007856 SapB_1
     IPR008373 Saposin

    Graphical View of Domain Structure for InterPro Entry P07988

    ProtoNet protein and cluster: P07988

    2 Blocks protein domains:
    IPB008137 Surfactant protein B
    IPB008139 Saposin B


    UniProtKB/Swiss-Prot: PSPB_HUMAN, P07988
    Similarity: Contains 1 saposin A-type domain
    Similarity: Contains 3 saposin B-type domains


    Find genes that share domains with SFTPB           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PSPB_HUMAN, P07988
    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 entry for SFTPB:
    surfactant-associated glycoprotein b,pulmonary 3 (18kDa),expressed in the alveolar and non ciliated bronchiolar
    epithelial cells

    Phenotypes:
         2 GenomeRNAi human phenotypes for SFTPB:
     Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Sftpb):
     behavior/neurological  homeostasis/metabolism  mortality/aging  respiratory system 

    Find genes that share phenotypes with SFTPB           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Sftpbtm1Jaw for SFTPB

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SFTPB
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SFTPB

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SFTPB
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SFTPB

    miRNA
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    Block miRNA regulation of human, mouse, rat SFTPB using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SFTPB (see all 9):
    hsa-miR-922 hsa-miR-15a hsa-miR-497 hsa-miR-1301 hsa-miR-424 hsa-miR-378* hsa-miR-195 hsa-miR-16
    SwitchGear 3'UTR luciferase reporter plasmidSFTPB 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for SFTPB
    Predesigned siRNA for gene silencing in human, mouse, rat SFTPB

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for SFTPB (see all 9)
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    GenScript: all cDNA clones in your preferred vector (see all 2): SFTPB (NM_198843)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SFTPB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SFTPB

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SFTPB


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PSPB_HUMAN, P07988: Secreted, extracellular space, surface film
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytoskeleton2
    lysosome2
    nucleus2
    vacuole2
    endoplasmic reticulum1
    endosome1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--
    GO:0005737cytoplasm ----
    GO:0005764lysosome IEA--

    Find genes that share ontologies with SFTPB           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Arrays including SFTPB: 
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SFTPB

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    4 Interacting proteins for SFTPB (P079883 ENSP000003451614) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CTSHP096683, ENSP000002201664I2D: score=1 STRING: ENSP00000220166
    KRTAP4-12Q9BQ663I2D: score=1 
    TAF1ENSP000002760724STRING: ENSP00000276072
    TAF1LENSP000004183794STRING: ENSP00000418379
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process ----
    GO:0006665sphingolipid metabolic process IEA--
    GO:0007585respiratory gaseous exchange IEA--
    GO:0009887organ morphogenesis TAS10378403

    Find genes that share ontologies with SFTPB           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SFTPB (PSPB)

    Selected Novoseek inferred chemical compound relationships for SFTPB gene (see all 72)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sinapultide 87.5 8 15805380 (1), 8542150 (1), 15813666 (1), 16871629 (1) (see all 5)
    dppg 86.1 39 8038387 (4), 8038385 (3), 7794949 (2), 11423403 (2) (see all 14)
    lucinactant 84.3 8 15805380 (2), 15633204 (2), 17394936 (1), 15813666 (1) (see all 5)
    dppc 83.4 117 1606172 (7), 18708453 (5), 9355744 (4), 14504839 (4) (see all 37)
    survanta 81.6 16 9973546 (1), 17394936 (1), 8825793 (1), 11325728 (1) (see all 7)
    popg 76.4 19 1606172 (5), 11423403 (2), 8542150 (1), 17890383 (1) (see all 7)
    phospholipid 72.6 94 1606172 (2), 8695661 (2), 11839533 (2), 8038387 (2) (see all 52)
    infasurf 69.1 3 16019988 (1), 19436610 (1), 15671432 (1)
    phosphatidylcholine 61.7 21 9355744 (3), 12030716 (2), 10333303 (1), 1709859 (1) (see all 12)
    1,2-dipalmitoyl-sn-glycero-3-phosphocholine 61.1 3 15805380 (1), 8599660 (1), 19399006 (1)



    Find genes that share compounds with SFTPB           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SFTPB gene (2 alternative transcripts): 
    NM_000542.3  NM_198843.2  

    Unigene Cluster for SFTPB:

    Surfactant protein B
    Hs.512690  [show with all ESTs]
    Unigene Representative Sequence: NM_000542
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000519937(uc010ysw.1) ENST00000428225 ENST00000409383 ENST00000494165
    ENST00000491167 ENST00000473692 ENST00000393822 ENST00000342375(uc002sqi.3 uc002sqj.3 uc002sqh.3)

    miRNA
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    Block miRNA regulation of human, mouse, rat SFTPB using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SFTPB (see all 9):
    hsa-miR-922 hsa-miR-15a hsa-miR-497 hsa-miR-1301 hsa-miR-424 hsa-miR-378* hsa-miR-195 hsa-miR-16
    SwitchGear 3'UTR luciferase reporter plasmidSFTPB 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SFTPB
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SFTPB (NM_198843)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SFTPB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SFTPB
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SFTPB
    OriGene qSTAR qPCR primer pairs in human, mouse for SFTPB
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SFTPB
      QuantiTect SYBR Green Assays in human, mouse, rat SFTPB
      QuantiFast Probe-based Assays in human, mouse, rat SFTPB

    Additional mRNA sequence: 

    AB439563.1 AB439564.1 AB439565.1 AB439566.1 AK303817.1 AK314947.1 BC032785.1 DQ317589.1 
    J02761.1 M16764.1 M19097.1 

    15 DOTS entries:

    DT.117753  DT.97813494  DT.95081762  DT.92441272  DT.100748542  DT.91974055  DT.97855718  DT.120961087 
    DT.40133149  DT.91743739  DT.92395929  DT.95081760  DT.95081761  DT.429781  DT.97794181 

    Selected AceView cDNA sequences (see all 311):

    AI984209 CA434243 AA782295 T57165 AA630433 AI950867 BM996550 AA358068 
    CA439097 BQ029275 AI821376 BQ029397 NM_000542 AA664149 BM998827 T62196 
    AW204600 BM999274 AA486594 T90329 AA298038 CA450126 AA487981 T98140 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SFTPB (see all 7)    About this scheme

    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:              -                                                                                                                     


    ECgene alternative splicing isoforms for SFTPB

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SFTPB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGGGATGGC
    SFTPB Expression
    About this image


    SFTPB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Lung (Respiratory System)    fully expand to see all 6 entries
             Alveolar Epithelial Type 2 Cells Alveoli
             Lung Epithelial Progenitors
             lung ; pneumocytes   
     
     Epithelial Cells
             Alveolar Epithelial Type 2 Cells Alveoli
             Human Pulmonary Alveolar Epithelial Cells (HPAEpiC)   
     
     Thymus (Hematopoietic System)
             Double Positive Thymocytes Thymus
     
     Blood (Cardiovascular System)
             Double Positive Thymocytes Thymus
    SFTPB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SFTPB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.512690
        Pathway & Disease-focused RT2 Profiler PCR Arrays including SFTPB: 
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SFTPB
    OriGene qSTAR qPCR primer pairs in human, mouse for SFTPB
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SFTPB
    QuantiTect SYBR Green Assays in human, mouse, rat SFTPB
    QuantiFast Probe-based Assays in human, mouse, rat SFTPB
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SFTPB

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SFTPB gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sftpb1 , 5 surfactant associated protein B1, 5 78.58(n)1
    71.17(a)1
      6 (32.27 cM)5
    203881  NM_001282071.11  NP_001269000.11 
     723046105 
    lizard
    (Anolis carolinensis)
    Reptilia SFTPB6
    surfactant protein B
    32(a)
    1 ↔ 1
    AAWZ02037276(279-14202)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia sftpb1 surfactant protein B 52.18(n)
    38.02(a)
      100495957  XM_002932543.2  XP_002932589.2 
    zebrafish
    (Danio rerio)
    Actinopterygii sftpba6
    sftpbb6
    surfactant protein Bb
    14(a)
    14(a)
    1 ↔ many
    1 ↔ many
    10(6826587-6833510) ENSDARG00000094708
    5(71749763-71780926) ENSDARG00000067566
    fruit fly
    (Drosophila melanogaster)
    Insecta Sap-r6
    Saposin-related
    5(a)
    1 → many
    3R(26709186-26714795)


    ENSEMBL Gene Tree for SFTPB (if available)
    TreeFam Gene Tree for SFTPB (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SFTPB gene
    PSAPL12  PSAP2  

    Find genes that share paralogs with SFTPB           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SFTPB (see all 406)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0368564
    Pulmonary surfactant metabolism dysfunction 1 (SMDP1)4--see VAR_0368562 R C mis40--------
    rs1378532021,2
    Cpathogenic185755112(-) TGTGCC/TGCGTG 4 R C mis11Minor allele frequency- T:0.00NA 2500
    rs1897066431,2
    --85748181(+) CTCTGC/TCTCCT 2 -- ds50010--------
    rs1812225661,2
    C--85748206(+) CTCCTC/GTCTCA 2 -- ds50010--------
    rs1483270271,2
    --85748294(+) TTTCAC/TCATGT 2 -- ds50010--------
    rs1866772621,2
    --85748316(+) GGAACC/TCCTAA 2 -- ds50010--------
    rs1404210411,2
    --85748328(+) CTCAAA/GTGATC 2 -- ds50010--------
    rs1899768241,2
    --85748341(+) CCCACC/GTCAGC 2 -- ds50010--------
    rs30248311,2
    C,F,H--85748560(-) AAAATA/GTGAGT 2 -- ds500116Minor allele frequency- G:0.10NS EA NA 2212
    rs1821558101,2
    --85748584(+) TAATGC/TCTCCA 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for SFTPB (85884437 - 85895864 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SFTPB:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2657560CNV Deletion23128226
    nsv874464CNV Loss21882294
    dgv4202n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): SFTPB
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SFTPB
    DNA2.0 Custom Variant and Variant Library Synthesis for SFTPB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 178640   
    OMIM disorders: 265120  
    UniProtKB/Swiss-Prot: PSPB_HUMAN, P07988
  • 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. 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'. Note=Disease susceptibility is
    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

  • 20 diseases for SFTPB:    
    About MalaCards
    respiratory failure    surfactant metabolism dysfunction, pulmonary, 1    meconium aspiration syndrome    hemangioma of lung
    neonatal respiratory failure    congenital pulmonary alveolar proteinosis    sftpb-related pulmonary surfactant metabolism dysfunction    bronchopulmonary dysplasia
    pulmonary alveolar proteinosis    surfactant metabolism dysfunction, pulmonary, 3    pulmonary surfactant metabolism dysfunction    pulmonary sclerosing hemangioma
    infant acute respiratory distress syndrome    surfactant dysfunction    sclerosing hemangioma    alveolar capillary dysplasia
    interstitial lung disease    hemangioma    malignant mesothelioma    pulmonary disease, chronic obstructive

    5 diseases from the University of Copenhagen DISEASES database for SFTPB:
    Respiratory failure     Pulmonary alveolar proteinosis     Sclerosing hemangioma     Hemangioma of lung
    Congenital diaphragmatic hernia

    Find genes that share disorders with SFTPB           About GenesLikeMe

    Selected Novoseek inferred disease relationships for SFTPB gene (see all 57)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    respiratory distress syndrome 83.1 53 12483294 (2), 17581675 (2), 16549540 (2), 18353230 (2) (see all 35)
    pulmonary alveolar proteinosis 81.5 9 15358702 (2), 9793979 (1), 10445627 (1), 20005435 (1) (see all 5)
    respiratory failure 72.9 54 9506635 (2), 15027668 (2), 15190959 (2), 10571948 (2) (see all 31)
    lung diseases 70.7 48 7491219 (3), 14977415 (3), 10960490 (2), 15790313 (2) (see all 26)
    hyaline membrane disease 68.9 1 11041444 (1)
    lung diseases interstitial 68.8 18 19220077 (2), 15737281 (1), 19824815 (1), 20461691 (1) (see all 12)
    bronchopulmonary dysplasia 67.3 1 10493923 (1)
    bronchoalveolar lavage fluid 61 19 15639455 (3), 7582290 (2), 15049696 (1), 9042125 (1) (see all 11)
    acute respiratory distress 56 7 16871629 (1), 17505704 (1), 11076040 (1), 19132247 (1) (see all 7)
    adenocarcinoma lung 52.6 9 12930693 (3), 15614737 (1), 12698189 (1), 9128293 (1) (see all 6)

    Genetic Association Database (GAD): SFTPB
    Human Genome Epidemiology (HuGE) Navigator: SFTPB (39 documents)

    Export disorders for SFTPB gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SFTPB gene, integrated from 10 sources (see all 532):
    (articles sorted by number of sources associating them with SFTPB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Polymorphisms of human SP-A, SP-B, and SP-D genes: association of SP- B Thr131Ile with ARDS. (PubMed id 11076040)1, 2, 4, 9 Lin Z....Floros J. (Clin. Genet. 2000)
    2. Surfactant proteins A and B as interactive genetic determinants of neonatal respiratory distress syndrome. (PubMed id 11063734)1, 2, 4, 9 Haataja R.... Hallman M. (Hum. Mol. Genet. 2000)
    3. Structure and organization of the gene encoding human pulmonary surfactant proteolipid SP-B. (PubMed id 2924687)1, 2, 3 Pilot-Matias T.J....Whitsett J.A. (DNA 1989)
    4. 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. (PubMed id 16549540)1, 4, 9 Floros J....Pavlovic J. (Pediatr. Res. 2006)
    5. Association between surfactant protein B + 1580 polymorphism and the risk of respiratory failure in adults with community-acquired pneumonia. (PubMed id 15190959)1, 4, 9 Quasney M.W....Wunderink R.G. (Crit. Care Med. 2004)
    6. Comparison of surfactant protein B polymorphisms of healthy term newborns with preterm newborns having respiratory distress syndrome. (PubMed id 17581675)1, 4, 9 Lyra P.P....Diniz E.M. (Braz. J. Med. Biol. Res. 2007)
    7. Surfactant protein B polymorphisms are associated with severe respiratory syncytial virus infection, but not with asthma. (PubMed id 17498296)1, 4, 9 Puthothu B....Krueger M. (BMC Pulm Med 2007)
    8. Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis. (PubMed id 13680361)1, 4, 9 Selman M.... Floros J. (Hum. Genet. 2003)
    9. Chromosomal localization of three pulmonary surfactant protein genes in the mouse. (PubMed id 1346779)1, 3, 9 Moore K.J....Copeland N.G. (Genomics 1992)
    10. [Genetic markers of predisposition to infectious complications in neonatal infants with respiratory distress syndrome]. (PubMed id 19348329)1, 4, 9 Bogdanova R.Z....Mironov P.I. (Anesteziol Reanimatol 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6439 HGNC: 10801 AceView: SFTPB Ensembl:ENSG00000168878 euGenes: HUgn6439
    ECgene: SFTPB H-InvDB: SFTPB

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SFTPB Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SFTPB[genesymbol]
    SeattleSNPshttp://pga.gs.washington.edu/data/sftpb/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SFTPB gene:
    Search GeneIP for patents involving SFTPB

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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