Skip to content
Use your HSA or FSA funds
Sequence your genome (opens in a new tab)

Gene

SFTPB

surfactant protein B

Summary

Cytogenetic location
2p11.2
Coordinates
Chromosome 2: 85,657,314–85,668,199 (GRCh38)
Exons
11 exons across 10.9 kb
Protein
381 amino acids
Also known as
SP-B
Previous symbols
SFTP3
MANE Select transcript
ENST00000519937.7NM_000542.5
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Surfactant Metabolism Dysfunction

    • Surfactant Metabolism Dysfunction, Pulmonary, 1Autosomal recessive
      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
    • Hereditary Pulmonary Alveolar Proteinosis and Surfactant Dysfunction

      Inherited disorders of surfactant production or clearance, including those caused by SFTPB, SFTPC, ABCA3, CSF2RA, CSF2RB and MARS1, that range from fatal respiratory distress in newborns to interstitial lung disease in children and adults.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      Actionability

      Knowing can support earlier diagnosis, specialist respiratory care, consideration of whole-lung lavage or transplant where appropriate, and information for family planning.

How SFTPB is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where SFTPB sits. SFTPB and 20 genes near it on chromosome 2, from 85,162,757 to 86,162,756.Chromosome 22p11.2p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.385.2 Mb85.4 Mb85.6 Mb85.8 Mb86 MbTCF7L1: 85,133,348–85,310,388, forward strandTCF7L1TGOLN2: 85,311,668–85,328,301, reverse strandTGOLN2RETSAT: 85,341,948–85,354,655, reverse strandRETSATELMOD3: 85,354,394–85,391,752, forward strandELMOD3CAPG: 85,388,144–85,422,017, reverse strandCAPGSH2D6: 85,418,714–85,437,029, forward strandSH2D6MAT2A: 85,539,163–85,545,281, forward strandMAT2AGGCX: 85,544,720–85,561,838, reverse strandVAMP8: 85,561,562–85,582,032, forward strandVAMP5: 85,584,397–85,593,421, forward strandRNF181: 85,595,620–85,598,589, forward strandRNF181TMEM150A: 85,598,547–85,603,201, reverse strandTMEM150AUSP39: 85,602,856–85,657,710, forward strandUSP39C2orf68: 85,605,254–85,612,066, reverse strandC2orf68SFTPB: 85,657,314–85,668,199, reverse strandSFTPBGNLY: 85,685,175–85,698,854, forward strandGNLYATOH8: 85,751,344–85,794,266, forward strandATOH8ST3GAL5: 85,837,120–85,905,199, reverse strandST3GAL5POLR1A: 86,020,216–86,106,155, reverse strandPOLR1APTCD3: 86,106,223–86,142,157, forward strandPTCD3IMMT: 86,142,798–86,195,631, reverse strandIMMTDiagram of SFTPB: 11 exons on the reverse strand of chromosome 2Exon 8: 2 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 11: 85,657,314–85,659,682, 2,369 basesExon 10: 85,661,454–85,661,535, 82 basesExon 9: 85,662,029–85,662,109, 81 basesExon 8: 85,663,346–85,663,491, 146 basesExon 7: 85,663,664–85,663,847, 184 basesExon 6: 85,665,289–85,665,378, 90 basesExon 5: 85,665,606–85,665,794, 189 basesExon 4: 85,666,617–85,666,742, 126 basesExon 3: 85,667,106–85,667,177, 72 basesExon 2: 85,667,679–85,667,806, 128 basesExon 1: 85,668,117–85,668,199, 83 bases11109876543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3.6 kb of the gene's 10.9 kb; 1,146 of those bases code for the protein.

Sequencing SFTPB

4Low

How hard SFTPB is to sequence with short reads, out of 100

  • Mappability2.8%
  • Homology0%
  • Repeats2.8%
  • GC content23%
  • Reference coverage0%

13

positions in SFTPB where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 10.9 kb of SFTPB, introns included, not only the 3.6 kb of exons.

Genes linked to the same conditions

Traits linked to SFTPB

The Human Phenotype Ontology lists these as features of the rare conditions SFTPB can cause. Each trait's page lists the other genes linked to it.

External links

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-17: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.17-8666dff2.

Cite this page

APA

Dante Labs. (n.d.). SFTPB gene: surfactant protein B. Retrieved 18 October 2026, from https://dantelabs.com/genes/sftpb

Vancouver

Dante Labs. SFTPB gene: surfactant protein B [Internet]. [cited 18 October 2026]. Available from: https://dantelabs.com/genes/sftpb

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test