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SFTPB (surfactant protein B)
Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6439
Gene nameGene Name - the full gene name approved by the HGNC.
Surfactant protein B
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SFTPB
SynonymsGene synonyms aliases
PSP-B, SFTB3, SFTP3, SMDP1, SP-B
ChromosomeChromosome number
2
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p11.2
SummarySummary of gene provided in NCBI Entrez 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% p
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs35328240 G>TTC Pathogenic Coding sequence variant, frameshift variant
rs35373464 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs137853202 G>A Pathogenic Coding sequence variant, missense variant
rs779795223 ->TT Pathogenic Frameshift variant, coding sequence variant
rs1553380888 C>A Pathogenic Coding sequence variant, synonymous variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT716061 hsa-miR-7153-3p HITS-CLIP 19536157
MIRT716060 hsa-miR-4281 HITS-CLIP 19536157
MIRT716059 hsa-miR-5587-5p HITS-CLIP 19536157
MIRT716058 hsa-miR-133a-3p HITS-CLIP 19536157
MIRT508431 hsa-miR-4418 PAR-CLIP 23446348
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Transcription factor Regulation Reference
FOXA1 Activation 18003659
FOXM1 Activation 12161428
MYBBP1A Unknown 11274148
NF1 Unknown 7580940
NKX2-1 Activation 12161428;18003659;8065304
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005576 Component Extracellular region TAS
GO:0005615 Component Extracellular space IBA 21873635
GO:0005654 Component Nucleoplasm TAS
GO:0005764 Component Lysosome IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P07988
Protein name Pulmonary surfactant-associated protein B (SP-B) (18 kDa pulmonary-surfactant protein) (6 kDa protein) (Pulmonary surfactant-associated proteolipid SPL(Phe))
Protein 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 met
PDB 1DFW , 1KMR , 1RG3 , 1RG4 , 1SSZ , 2DWF , 2JOU , 2M0H , 2M1T
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02199 SapA
30 → 61
Saposin A-type domain
 Family
PF05184 SapB_1
67 → 104
Saposin-like type B, region 1
 Domain
PF03489 SapB_2
110 → 143
Saposin-like type B, region 2
 Family
PF03489 SapB_2
333 → 366
Saposin-like type B, region 2
 Family
Sequence 
MAESHLLQWLLLLLPTLCGPGTAAWTTSSLACAQGPEFWCQSLEQALQCRALGHCLQEVW
GHVGADDLCQECEDIVHILNKMAKEAIFQDTMRKFLEQECNVLPLKLLMPQCNQVLDDYF
PLVIDYFQNQTDSNGICMHLGLCKSRQPEPEQEPGMSDPLPKPLRDPLPDPLLDKLVLPV
LPGALQARPGPHTQDLSEQQFPIPLPYCWLCRALIKRIQAMIPKGALAVAVAQVCRVVPL
VAGGICQCLAERYSVILLDTLLGRMLPQLVCRLVLRCSMDDSAGPRSPTGEWLPRDSECH
LCMSVTTQAGNSSEQAIPQAMLQACVGSWLDREKCKQFVEQHTPQLLTLVPRGWDAHTTC
QALGVCGTMSSPLQCIHSPDL
Sequence length 381
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
 
Reactome
    Surfactant metabolism
Defective pro-SFTPB causes pulmonary surfactant metabolism dysfunction 1 (SMDP1) and respiratory distress syndrome (RDS)
Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
Associated diseases
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Pulmonary arterial hypertension Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424, rs863223408, rs869025366, rs876657748, rs886039506, rs886041324, rs1060502576, rs1060502581, rs1060502584, rs1085307149, rs1085307154, rs1085307157, rs1085307163, rs1085307169, rs1085307177, rs1085307180, rs1085307184, rs1085307188, rs1085307191, rs1085307203, rs1085307222, rs1085307223, rs1085307225, rs1085307229, rs1085307234, rs1085307246, rs1085307261, rs1085307267, rs576091247, rs200948870, rs1085307278, rs1085307282, rs1085307285, rs1085307290, rs1085307301, rs1085307306, rs1085307307, rs1085307308, rs1085307315, rs1085307316, rs1553509997, rs1085307324, rs1085307340, rs1085307349, rs1085307352, rs765887545, rs1085307183, rs1555208696, rs1592224412, rs1574415785, rs1574415799, rs1574462520, rs1085307197, rs1574464060, rs749485755, rs1574464121, rs1574464150, rs1574464160, rs1085307214, rs1574485996, rs1574486497, rs1574486566, rs1574488314, rs1574488346, rs1574488353, rs1574488357, rs1574488412, rs1414031345, rs1574488484, rs1574488490, rs863223419, rs1574489046, rs1574494632, rs1574494655, rs1574500018, rs1574505253, rs1574505321, rs371174955, rs1574506729, rs1574506732, rs1574506781, rs1574506790, rs1574506799, rs1574506914, rs1574506976, rs1574507076, rs1574507124, rs1574507215, rs1574507268, rs1574507272, rs1574507276, rs1574507290, rs1574507331, rs398123042, rs374644720, rs1588573831, rs1592222308, rs1592223392, rs756315327, rs1603248167, rs1397811125, rs1603255267, rs1603255327, rs1603255336, rs1603255339, rs754897911, rs1603256095, rs1085307155, rs1085307156, rs1574464226, rs1085307226, rs1574486038, rs1553508321, rs1574488277, rs1574488501, rs1574493841, rs1574499954
Surfactant metabolism dysfunction, pulmonary Surfactant Metabolism Dysfunction, Pulmonary, 1 rs137852353, rs35328240, rs1553380888, rs1586422427, rs121917834, rs121917835, rs121918559, rs121917836, rs121918560, rs1554476282, rs1558572491, rs779795223, rs2091055139, rs1395037247, rs2091299213 7491219, 23330012, 26199800, 23625987, 21965505, 10712351, 15331184, 8163685
Lung cancer Malignant neoplasm of lung rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135 16570259
Unknown
Disease name Disease term dbSNP ID References
Alveolar proteinosis Pulmonary Alveolar Proteinosis
Congenital alveolar dysplasia Respiratory Distress Syndrome, Newborn 11063734
Hyaline membrane disease Hyaline Membrane Disease 11063734
Lung neoplasms Lung Neoplasms 16570259

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