SFTPB surfactant protein B [Homo sapiens (human)] - Gene

Summary

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Official Symbol: SFTPBprovided by HGNC
Official Full Name: surfactant protein Bprovided by HGNC
Primary source: HGNC:10801
See related: Ensembl:ENSG00000168878; HPRD:01523; MIM:178640; Vega:OTTHUMG00000130181
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SP-B; PSP-B; SFTB3; SFTP3; SMDP1
Summary: 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]

Genomic context

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Location :: 2p12-p11.2

Sequence :: Chromosome: 2; NC_000002.11 (85884440..85895864, complement)

See SFTPB in Epigenomics, MapViewer

Chromosome 2 - NC_000002.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

The results indicate that tryptophan oxidation causes substantial disruptions in helical structure and lipid interactions.
Title: Modifications to surfactant protein B structure and lipid interactions under respiratory distress conditions: consequences of tryptophan oxidation.
review focuses on published association studies of surfactant proteins A and D genetic polymorphisms with respiratory, and non-respiratory diseases in adults, children, and newborns [review]
Title: Genetic variant associations of human SP-A and SP-D with acute and chronic lung injury.
The present study demonstrated that the AG genotype of AG 9306 polymorphism was a protective factor against the development of respiratory distress syndrome, other polymorphisms studied (G/C at 8714, C/T at 1580, A/C at -18) were not associated with RDS.
Title: Surfactant protein B gene polymorphism in preterm babies with respiratory distress syndrome.
In patients undergoing major vascular abdominal surgery, SP-B values increase progressively during mechanical ventilation stages compared to advanced glycation end-products (RAGE) kinetics.
Title: Kinetics of plasma SPB and RAGE during mechanical ventilation in patients undergoing major vascular surgery.
SP-B 1580C/T polymorphism contributes to the etiology of respiratory distress syndrome.
Title: [Relationship between pulmonary surfactant-associated protein B polymorphisms and the susceptibility to neonatal respiratory distress syndrome].
Circulating levels of SP-B increase with greater smoking burden and independently associate with abdominal abdominal aortic plaque among current smokers.
Title: Interactions between smoking, pulmonary surfactant protein B, and atherosclerosis in the general population: the Dallas Heart Study.
Genetic variations in the gene coding for surfactant protein B are associated with more severe lung injury as indicated by the association of specific single nucleotide polymorphism genotypes and haplotypes
Title: The influence of genetic variation in surfactant protein B on severe lung injury in African American children.
Surfactant protein B and RAGE increases in the plasma during cardiopulmonary bypass
Title: Surfactant protein B and RAGE increases in the plasma during cardiopulmonary bypass: a pilot study.
Surfactant protein B polymorphisms have a role in pulmonary function and COPD
Title: Surfactant protein B polymorphisms, pulmonary function and COPD in 10,231 individuals.
Disaturated-phosphatidylcholine and surfactant protein-B have a different turnover both in healthy and diseased lungs.
Title: Disaturated-phosphatidylcholine and surfactant protein-B turnover in human acute lung injury and in control patients.

Submit: New GeneRIF Correction See all (68)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Surfactant metabolism dysfunction, pulmonary, 1

MIM: 265120

Genetic Testing Registry

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
P07988	P09668	CTSH		HPRD	PubMed

General gene information

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Markers

GDB:555915 (e-PCR)
- UniSTS:157701

RH98252 (e-PCR)
- UniSTS:89660

RH69695 (e-PCR)
- UniSTS:77894

D2S2612 (e-PCR)
- UniSTS:61288

D1S1425 (e-PCR)
- UniSTS:149621

GDB:180296 (e-PCR)
- UniSTS:155070

SFTPB_1556 (e-PCR)
- UniSTS:277711

SFTPB_v538 (e-PCR)
- UniSTS:277711

D11S3316 (e-PCR)
- UniSTS:152558

D2S2579 (e-PCR)
- UniSTS:498

Homology

Homologs of the SFTPB gene: The SFTPB gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, and rat.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
organ morphogenesis	TAS Traceable Author Statement more info	PubMed
respiratory gaseous exchange	IEA Inferred from Electronic Annotation more info
sphingolipid metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
extracellular space	IEA Inferred from Electronic Annotation more info
lysosome	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: pulmonary surfactant-associated protein B

Names: pulmonary surfactant-associated protein B; 6 kDa protein; 18 kDa pulmonary-surfactant protein; pulmonary surfactant-associated proteolipid SPL(Phe)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016967.1 RefSeqGene

Range

5001..16425

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000542.3 → NP_000533.3 pulmonary surfactant-associated protein B precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) is the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AB439563, AL548140, AW204600, BC032785, BG482852, CA437348

Consensus CDS

CCDS1983.2

UniProtKB/TrEMBL

D6W5L6

UniProtKB/Swiss-Prot

P07988

Related

ENSP00000377409, ENST00000393822

Conserved Domains (4) summary

pfam03489
Location:122 – 155
Blast Score: 106

SapB_2; Saposin-like type B, region 2

pfam05184
Location:78 – 116
Blast Score: 86

SapB_1; Saposin-like type B, region 1

smart00741
Location:79 – 155
Blast Score: 186

SapB; Saposin (B) Domains

cl02494
Location:40 – 73
Blast Score: 138

SapA; Saposin A-type domain
NM_198843.2 → NP_942140.2 pulmonary surfactant-associated protein B precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an internal segment in the 3' UTR, as compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AB439563, AL548140, AW204600, BC032785, CA437348

Consensus CDS

CCDS1983.2

UniProtKB/TrEMBL

D6W5L6

UniProtKB/Swiss-Prot

P07988

Conserved Domains (4) summary

pfam03489
Location:122 – 155
Blast Score: 106

SapB_2; Saposin-like type B, region 2

pfam05184
Location:78 – 116
Blast Score: 86

SapB_1; Saposin-like type B, region 1

smart00741
Location:79 – 155
Blast Score: 186

SapB; Saposin (B) Domains

cl02494
Location:40 – 73
Blast Score: 138

SapA; Saposin A-type domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000002.11 Reference GRCh37.p10 Primary Assembly

Range

85884440..85895864, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000134.1 Alternate HuRef

Range

85781765..85793199, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018913.1 Alternate CHM1_1.0

Range

85748616..85760037, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01075766.1 (6674..18108)	None
genomic	AC012454.8 (49485..60357)	None
genomic	AF400074.1	AAK77913.1
genomic	AMYH01010497.1 (23456..34877)	None
genomic	CH471053.2	EAW99487.1
		EAW99488.1
		EAW99489.1
genomic	CS123915.1	CAJ18771.1
genomic	M24461.1	AAB59541.1
mRNA	AB439563.1	None
mRNA	AB439565.1	None
mRNA	AK303817.1	BAG64767.1
mRNA	AK314947.1	BAG37452.1
mRNA	AL548140.3	None
mRNA	AW204600.1	None
mRNA	BC032785.1	AAH32785.1
mRNA	BG482852.1	None
mRNA	BI821350.1	None
mRNA	BM989941.1	None
mRNA	CA435153.1	None
mRNA	CA437348.1	None
mRNA	CA439044.1	None
mRNA	DQ317589.1	ABC59511.1
mRNA	J02761.1	AAA60212.1
mRNA	M16764.1	AAA88099.1
mRNA	M19097.1	AAA36628.1
other-genetic	HQ447860.1	ADQ32344.1