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

SFTPB Gene

protein-coding   GIFtS: 55
GCID: GC02M085884

Surfactant Protein B

(Previous names: surfactant, pulmonary-associated protein B)
(Previous symbol: SFTP3)
Pneumococci & Pneumococcal Diseases Congress
  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 neonatal respiratory failure. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  NC_018913.2  
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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for SFTPB at MOPED 

SFTPB Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

SFTPB Protein Expression

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

ENSEMBL proteins: 
 ENSP00000428719   ENSP00000415347   ENSP00000386346   ENSP00000476194   ENSP00000377409  
 ENSP00000345161  

Human Recombinant Protein Products for SFTPB: 
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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. 

Gene Ontology (GO): 3 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--

SFTPB for ontologies           About GeneDecksing



SFTPB Antibody Products: 
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LSBio Antibodies in human, mouse, rat for SFTPB 

Assay Products for SFTPB: 
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Browse ELISAs at Cloud-Clone Corp. 
Browse CLIAs at Cloud-Clone Corp.


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
5/6 InterPro protein domains (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 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


SFTPB for domains           About GeneDecksing


(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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 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:
     MGI mouse knock-out Sftpbtm1Jaw for SFTPB

   inGenious Targeting Laboratory - Custom generated mouse model solutions for SFTPB 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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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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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Sirion Biotech Customized adenovirus for overexpression of SFTPB

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GenScript: all cDNA clones in your preferred vector (see all 2): SFTPB (NM_198843)
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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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                     Customized lentivirus expression plasmids for stable overexpression of SFTPB 

Cell Line
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In Situ Assay
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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, Sino Biological, 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 Oct 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): 4 biological process terms (GO ID links to tree view):    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

SFTPB for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 (PSPB)

10/72 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)

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

(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,
Conferences by KenesGroup, 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, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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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QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SFTPB
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
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for SFTPB
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SFTPB
Clone
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OriGene ORF clones in mouse, rat for SFTPB
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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
Sirion Biotech Customized lentivirus for stable overexpression of SFTPB 
                     Customized lentivirus expression plasmids for stable overexpression of SFTPB 
Primer
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OriGene qPCR primer pairs and template standards for SFTPB
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SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SFTPB
  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SFTPB
  QIAGEN 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 

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

T92189 BM992763 T96402 AI821343 BQ029275 BQ029340 T65970 NM_000542 
CA439097 BM993202 AA953082 AA487981 T92454 CA437348 AA486594 AA487035 
AA630433 CA435684 AA315937 T90329 BM999274 AA988129 AW204600 AI821016 

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)      SFTPB embryonic expression: see
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 
 5/4 selected tissues (see all 4) fully expand
 
 Lung (Respiratory System)    fully expand to see all 5 entries
         Alveolar Epithelial Type 2 Cells Alveoli
         Type II pneumocytes (airway epithelial cells) ( Derivation of lung epithelial cells...
         lung ; pneumocytes   
 
 Thymus (Hematopoietic System)
         Double Positive Thymocytes Thymus
 
 Blood (Cardiovascular System)
         Double Positive Thymocytes Thymus
 
 Epithelium (Uncategorized)
         Human Pulmonary Alveolar Epithelial Cells (HPAEpiC)   

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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OriGene qSTAR qPCR primer pairs in human, mouse for SFTPB
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SFTPB
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 4/11 species (see all 11)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Sftpb1 , 5 surfactant associated protein B1, 5 79.3(n)1
72.85(a)1
  6 (32.27 cM)5
203881  NM_147779.11  NP_680088.11 
 723046105 
lizard
(Anolis carolinensis)
Reptilia SFTPB6
surfactant protein B
33(a)
1 ↔ 1
AAWZ02037276(279-14202)
zebrafish
(Danio rerio)
Actinopterygii SFTPB (1 of 2)6
SFTPB (2 of 2)6
surfactant protein B
18(a)
16(a)
1 ↔ many
1 ↔ many
5(71749763-71780926)
10(6826587-6833510)
fruit fly
(Drosophila melanogaster)
Insecta Sap-r6
Saposin-related
8(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)
About This Section
Paralogs for SFTPB gene
PSAPL12  PSAP2  

SFTPB for paralogs           About GeneDecksing



(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) 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

10/406 SNPs in SFTPB are shown (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
VAR_0069494
----see VAR_0069492 A R mis40--------
VAR_0069504
----see VAR_0069502 A I mis40--------
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--------

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
SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
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

  • 20/42 diseases for SFTPB (see all 42):    About MalaCards
    respiratory failure    neonatal respiratory failure    congenital pulmonary alveolar proteinosis    neonatal acute respiratory distress with surfactant metabolism deficiency
    sftpb-related pulmonary surfactant metabolism dysfunction    infant acute respiratory distress syndrome    pulmonary alveolar proteinosis    pulmonary surfactant metabolism dysfunction
    interstitial lung disease    pulmonary sclerosing hemangioma    bronchopulmonary dysplasia    alveolar capillary dysplasia
    newborn respiratory distress syndrome    meconium aspiration syndrome    sclerosing hemangioma    malignant mesothelioma
    surfactant dysfunction    hemangioma    alpha 1-antitrypsin deficiency    protein s deficiency

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

    SFTPB for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    10/57 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)
    About This Section

    PubMed articles for SFTPB gene, integrated from 9 sources (see all 530):
    (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. 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. (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. (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. (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. (2007)
    8. Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis. (PubMed id 13680361)1, 4, 9 Selman M.... Floros J. (2003)
    9. 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)
    10. [Genetic markers of predisposition to infectious complications in neonatal infants with respiratory distress syndrome] (PubMed id 19348329)1, 4, 9 (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, 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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