SFTPB

surfactant protein B

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]

Known Variants170 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs186677262	2:85,884,140	T/C	downstream gene variant	—
rs868422895	2:85,884,459	T/G	—	uncertain significance
rs1001586761	2:85,884,652	C/T	—	uncertain significance
rs546289871	2:85,884,682	G/T	—	uncertain significance
rs886056382	2:85,884,763	G/A	—	uncertain significance
rs113824447	2:85,884,913	C/T	—	likely benign
rs531786266	2:85,884,924	G/A	—	likely benign
rs536163759	2:85,884,948	G/T	—	likely benign
rs1056262339	2:85,884,952	A/C	—	uncertain significance
rs3024829	2:85,884,977	C/T	—	likely benign
rs115696450	2:85,884,978	G/A	—	benign
rs558265142	2:85,885,020	C/T	—	uncertain significance
rs1677128089	2:85,885,069	G/C	—	uncertain significance
rs186308421	2:85,885,185	A/T	—	likely benign
rs886056383	2:85,885,218	C/T	—	uncertain significance
rs556431838	2:85,885,234	G/T	—	likely benign
rs542165602	2:85,885,327	A/G	—	likely benign
rs560513740	2:85,885,337	T/C	—	uncertain significance
rs114238614	2:85,885,636	T/G	—	benign
rs1031733411	2:85,885,903	C/T	—	uncertain significance
rs1677155582	2:85,885,923	G/A	—	uncertain significance
rs3024828	2:85,885,968	G/A	—	benign
rs7316	2:85,886,013	T/C	3 prime UTR variant	—
rs3024815	2:85,888,293	A/G	—	benign
rs2466655634	2:85,888,603	T/A	—	uncertain significance
rs370785493	2:85,888,604	C/T	—	uncertain significance
rs144831319	2:85,888,606	G/C	—	likely benign
rs1250718045	2:85,888,613	G/A	—	uncertain significance
rs370528656	2:85,888,629	G/A	—	likely benign
rs374932425	2:85,888,633	G/A	—	likely benign
rs946917663	2:85,888,636	A/G	—	likely benign
rs750958534	2:85,888,652	C/T	—	uncertain significance
rs1558572491	2:85,888,659	C/T	—	pathogenic
rs367642416	2:85,888,667	G/A	—	likely benign
rs3024832	2:85,888,784	G/C	—	likely benign
rs35982709	2:85,889,132	A/G	—	benign
rs955981915	2:85,889,145	G/A	—	conflicting classifications of pathogenicity
rs1677332584	2:85,889,170	A/G	—	uncertain significance
rs2466661561	2:85,889,184	G/A	—	likely benign
rs45606043	2:85,889,206	C/T	—	likely benign
rs567506649	2:85,889,207	G/A	—	uncertain significance
rs1677335461	2:85,889,214	G/C	—	uncertain significance
rs143687195	2:85,889,225	T/A	—	uncertain significance
rs2040349	2:85,889,525	A/C	—	benign
rs3024811	2:85,890,148	C/A	—	benign
rs2118177	2:85,890,293	T/C	—	benign
rs769758832	2:85,890,485	C/G	—	uncertain significance
rs899331882	2:85,890,531	C/T	—	uncertain significance
rs201986026	2:85,890,543	C/T	—	uncertain significance
rs1212092030	2:85,890,544	G/A	—	likely benign
rs1452599862	2:85,890,551	G/A	—	uncertain significance
rs765720471	2:85,890,558	C/T	—	uncertain significance
rs2104400347	2:85,890,567	A/C	—	likely pathogenic
rs1677410327	2:85,890,588	G/A	—	pathogenic
rs1677411235	2:85,890,595	C/T	—	pathogenic
rs45504597	2:85,890,602	C/T	—	conflicting classifications of pathogenicity
rs1254552783	2:85,890,613	C/T	—	likely benign
rs762548	2:85,890,753	A/G	—	benign
rs2304566	2:85,890,758	T/C	—	benign
rs786205634	2:85,890,771	—	—	likely benign
rs893159	2:85,890,771	G/T	—	benign
rs36210375	2:85,890,796	C/T	—	benign
rs3024810	2:85,890,800	G/A	—	benign
rs756396147	2:85,890,804	T/C	—	uncertain significance
rs1283205794	2:85,890,807	A/C	—	uncertain significance
rs201996765	2:85,890,816	C/T	—	uncertain significance
rs542291993	2:85,890,817	G/A	—	uncertain significance
rs3024809	2:85,890,828	C/T	—	likely benign
rs1056015131	2:85,890,829	G/A	—	uncertain significance
rs2466674787	2:85,890,830	G/A	—	likely benign
rs759379195	2:85,890,861	A/T	—	uncertain significance
rs528288865	2:85,890,863	C/T	—	conflicting classifications of pathogenicity
rs764088882	2:85,890,869	G/A	—	likely benign
rs186576601	2:85,890,880	C/T	—	uncertain significance
rs772619023	2:85,890,889	G/A	—	pathogenic
rs727503418	2:85,890,902	C/T	—	likely benign
rs1001637675	2:85,890,913	C/T	—	likely pathogenic
rs759213352	2:85,890,918	G/A	—	conflicting classifications of pathogenicity
rs762818048	2:85,890,934	C/T	—	uncertain significance
rs367661082	2:85,890,935	G/A	—	likely benign
rs137853202	2:85,890,937	G/A	missense variant	pathogenic
rs987518026	2:85,890,978	G/A	—	uncertain significance
rs778349143	2:85,890,984	G/T	—	conflicting classifications of pathogenicity
rs3024805	2:85,891,264	C/G	—	benign
rs762917358	2:85,892,434	C/T	—	uncertain significance
rs35049407	2:85,892,451	G/A	—	likely benign
rs150799880	2:85,892,473	G/A	—	uncertain significance
rs747957177	2:85,892,492	C/T	—	uncertain significance
rs45530632	2:85,892,493	G/A	—	likely benign
rs1677519190	2:85,892,499	A/G	—	likely benign
rs2466683864	2:85,892,502	C/A	—	likely pathogenic
rs202098250	2:85,892,516	A/G	—	conflicting classifications of pathogenicity
rs886044577	2:85,892,723	C/T	—	uncertain significance
rs755711266	2:85,892,724	C/T	—	uncertain significance
rs45601634	2:85,892,735	G/A	—	likely benign
rs141123597	2:85,892,741	C/G	—	conflicting classifications of pathogenicity
rs756571077	2:85,892,751	G/A	—	conflicting classifications of pathogenicity
rs1573475373	2:85,892,759	G/T	—	likely benign
rs35524245	2:85,892,763	C/T	—	uncertain significance
rs184494733	2:85,892,764	C/T	—	conflicting classifications of pathogenicity

Showing 100 of 170 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.