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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SFTPB Gene

protein-coding   GIFtS: 54
GCID: GC02M085884

surfactant protein B

(Previous names: surfactant, pulmonary-associated protein B )
(Previous symbol: SFTP3)
 Explore 48 diseases affiliated with
SFTPB via our new
 Human Malady Compendium 
Biological research products
for SFTPB
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Surfactant Protein B1 2     SFTB32 5
SFTP31 2 3     SMDP12 5
SP-B1 2 3     Surfactant, Pulmonary-Associated Protein B1
Pulmonary Surfactant-Associated Proteolipid SPL(Phe)2 3     PSP-B2
18 KDa Pulmonary-Surfactant Protein2 3     Pulmonary Surfactant-Associated Protein B2
6 KDa Protein2 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SFTPB:
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)

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)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_022184.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SFTPB gene promoter:
         Sp1   STAT3   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Secreted, extracellular space, surface film
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;
6/7 PDB 3D structures from and Proteopedia for SFTPB (see all 7):
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

SFTPB Protein expression data from MOPED and PaxDb:    About this image 
SFTPB Protein Expression

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

ENSEMBL proteins: 
 ENSP00000428719   ENSP00000415347   ENSP00000386346   ENSP00000377409   ENSP00000345161  

Human Recombinant Protein Products for SFTPB: 
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Novus Biologicals SFTPB Protein
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Browse Proteins at Uscn

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005615extracellular space IEA--
GO:0005737cytoplasm ----
GO:0005764lysosome IEA--
GO:0005771multivesicular body ----
GO:0042599lamellar body ----

SFTPB for ontologies           About GeneDecksing



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Browse ELISAs and CLIAs at Uscn


(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SFTPB for domains           About GeneDecksing

5/6 InterPro domains/families (see all 6):
 IPR011001 Saposin-like
 IPR007856 SapB_1
 IPR008138 SapB_2
 IPR008373 Saposin
 IPR003119 SapA

Graphical View of Domain Structure for InterPro Entry P07988

ProtoNet protein and cluster: P07988

2 Blocks protein families:
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


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

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 

SFTPB for phenotypes           About GeneDecksing

Animal Models:
     Mouse knock-out Sftpbtm1Jaw for SFTPB
   inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SFTPB 

miRNA
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8/9 QIAGEN miScript miRNA 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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Gene Editing
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Cell Line
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In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SFTPB


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section



Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SFTPB

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

2 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 
About this table

Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001666response to hypoxia ----
GO:0006665sphingolipid metabolic process IEA--
GO:0007585respiratory gaseous exchange IEA--
GO:0007623circadian rhythm ----
GO:0009749response to glucose stimulus ----

SFTPB for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SFTPB for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SFTPB
10/72 Novoseek 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)

Search CenterWatch for drugs/clinical trials and news about SFTPB / PSPB 

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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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8/9 QIAGEN miScript miRNA 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 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SFTPB (see all 7)
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Sirion Biotech Custom design and validation of potent shRNA sequences against SFTPB 
Clone
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OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SFTPB (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SFTPB (see all 2)
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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 
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OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SFTPB
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  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SFTPB
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SFTPB

Additional cDNA 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 

24/311 AceView cDNA sequences (see all 311):

T96402 T92454 AA487981 AA358068 AI191363 CA439806 AA487826 AA953082 
BM978061 CA444303 AA664149 AI821016 AW276646 AI950867 CA435684 CA434243 
CA437348 AI821343 T92189 AA487976 CA437037 N79520 CA450126 T65949 

GeneLoc Exon Structure

5/7 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SFTPB expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATGGGATGGC
SFTPB Expression
About this image

SFTPB expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell 
Tissue Anatomical Compartment CellCategory (developmental path)
LungAlveoliAlveolar Epithelial Type 2 CellsLung
Expression: Positive    Negative     Selective marker
Experimental details: Curated     Microarrays     In-situ hybridization
Stem Cell Differentiation: 3 LifeMap Cells 
NameCategory
Lung Epithelial Progenitors (Efficient derivation...)Lung
Type II pneumocytes (airway epithelial cells) (Derivation of lung s...)
Alveolar type II cells (Derivation of mature...)Lung

See SFTPB Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SFTPB

SOURCE GeneReport for Unigene cluster: Hs.512690
    SABiosciences Expression via Pathway-Focused PCR Arrays including SFTPB: 
          Cell Lineage Identification in human mouse rat
          Terminal Differentiation Markers in human mouse rat

Primer
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Browse OriGene validated miRNA SYBR primer pairs
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QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SFTPB
QIAGEN 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)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for SFTPB gene from 3/18 species (see all 18)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
lizard
(Anolis carolinensis)
Reptilia SFTPB6
--
36(a)
1 ↔ 1
AAWZ02037276(1118-13671)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-283h6.66
si:ch73-340n8.26
si:ch73-340n8.2
19(a)
17(a)
1 ↔ many
1 ↔ many
5(71749763-71780926)
10(6826587-6833510)
fruit fly
(Drosophila melanogaster)
Insecta Sap-r6
Saposin-related
8(a)
possible ortholog
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)
About This Section
Paralogs for SFTPB gene
PSAPL12  PSAP2  

SFTPB for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/319 NCBI SNPs in SFTPB are shown (see all 319    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1378532021,2
Cpathogenic85788269(-) TGTGCC/TGCGTG 4 R C mis11Minor allele frequency- T:0.00NA 2500
rs30248301,2
C,F,H--85781969(-) CAAGCG/ACCAGA 2 -- ut31 ese37Minor allele frequency- A:0.01NS NA 884
rs2008714311,2
C--85782008(-) TCTTCC/TCCCCA 2 -- ut310--------
rs1138244471,2
--85782238(+) ATAGGC/TGGTGG 2 -- ut311Minor allele frequency- T:0.50CSA 2
rs30248291,2
C,F,H--85782302(-) TCTCCG/ACCATT 2 -- ut31 ese36Minor allele frequency- A:0.00NS EA 498
rs1142386141,2
C,F--85782961(+) TTTATT/GTATTT 2 -- ut311Minor allele frequency- G:0.05WA 118
rs30248281,2
C,F,H--85783293(-) GACACC/TGTCCT 2 -- ut31 ese314Minor allele frequency- T:0.17NS EA NA WA 1464
rs30248271,2
C,F,H--85783394(-) AAGCTC/GAGCTG 2 -- ut31 int110Minor allele frequency- G:0.16NS EA NA WA CSA 630
rs30248261,2
C--85783490(-) AAAAGG/CGGTTT 2 -- int1 ut312Minor allele frequency- C:0.01NS 82
rs30248251,2
C--85783500(-) TTAAG-/CATATATA 2 -- ut31 int12Minor allele frequency- CAT:0.01NS 84

HapMap Linkage Disequilibrium report for SFTPB (85884437 - 85895864 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for SFTPB: --
Human Gene Mutation Database (HGMD): SFTPB

SABiosciences Cancer Mutation PCR Assays
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(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.)
About This Section

SFTPB for disorders           About GeneDecksing

OMIM gene information: 178640   
OMIM disorders: 265120  
UniProtKB/Swiss-Prot: PSPB_HUMAN, P07988
  • Defects in SFTPB are the cause of pulmonary surfactant metabolism dysfunction type 1 (SMDP1) [MIM:265120];
  • also called pulmonary alveolar proteinosis due to surfactant protein B deficiency. 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
  • Genetic variations in SFTPB are a cause of susceptibility to respiratory distress syndrome in premature
  • infants (RDS) [MIM:267450]. RDS is 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=A variation Ile to Thr at position 131 influences the association between specific alleles
    of SFTPA1 and respiratory distress syndrome in premature infants

    20/48 diseases for SFTPB (see all 48):    About MalaCards
    pulmonary alveolar proteinosis    pulmonary surfactant metabolism dysfunction    alpha 1-antitrypsin deficiency    newborn respiratory distress syndrome
    hermansky-pudlak syndrome    congenital pulmonary alveolar proteinosis    alveolar capillary dysplasia    patent ductus arteriosus
    non-small cell lung carcinoma    respiratory failure    sclerosing hemangioma    congenital diaphragmatic hernia
    bronchopulmonary dysplasia    malignant mesothelioma    pulmonary sclerosing hemangioma    neonatal respiratory failure
    surfactant deficiency    chronic obstructive pulmonary disease    hemangioma    idiopathic pulmonary fibrosis

    3 diseases from the University of Copenhagen DISEASES database for SFTPB:
    Respiratory failure     Pulmonary alveolar proteinosis     Sclerosing hemangioma

    10/57 Novoseek 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)
    About This Section

    PubMed articles for SFTPB gene, integrated from 9 sources (see all 523):
    (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. (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. (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. (1989)
    4. 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. (2004)
    5. Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis. (PubMed id 13680361)1, 4, 9 Selman M.... Floros J. (2003)
    6. Chromosomal localization of three pulmonary surfactan t protein genes in the mouse. (PubMed id 1346779)1, 3, 9 Moore K.J....Copeland N.G. (1992)
    7. Attempted replication of reported chronic obstructive pulmonary disease candidate gene associations. (PubMed id 15817713)1, 4, 9 Hersh C.P....Silverman E.K. (2005)
    8. Polymorphism in the surfactant protein-B gene, gender, and the risk of direct pulmonary injury and ARDS. (PubMed id 14718442)1, 4, 9 Gong M.N....Christiani D.C. (2004)
    9. Surfactant protein B polymorphism and respiratory distress syndrome in premature twins. (PubMed id 12483294)1, 4, 9 Marttila R....Hallman M. (2003)
    10. Polymorphisms of surfactant protein B encoding gene: modifiers of the course of neonatal respiratory distress syndrome? (PubMed id 12424586)1, 4, 9 Makri V....Gortner L. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6439 HGNC: 10801 AceView: SFTPB Ensembl:ENSG00000168878 euGenes: HUgn6439
    ECgene: SFTPB H-InvDB: SFTPB

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SFTPB Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SFTPB
    SeattleSNPshttp://pga.gs.washington.edu/data/sftpb/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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