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Gene

SFTPA2

surfactant protein A2

Summary

Cytogenetic location
10q22.3
Coordinates
Chromosome 10: 79,555,852–79,560,407 (GRCh38)
Exons
6 exons across 4.6 kb
Protein
248 amino acids
Also known as
SP-A2, COLEC5
MANE Select transcript
ENST00000372325.7NM_001098668.4
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Familial Pulmonary Fibrosis

    • Interstitial Lung Disease 2 (SFTPA2-related)Autosomal dominant

      Variants in the surfactant protein A2 gene (SFTPA2) can cause familial pulmonary fibrosis, and in some families lung cancer.

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

How SFTPA2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 10, with a bracket where SFTPA2 sits. SFTPA2 and 8 genes near it on chromosome 10, from 79,058,130 to 80,058,129.Chromosome 1010q22.3p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.379.2 Mb79.4 Mb79.6 Mb79.8 Mb80 MbZMIZ1: 79,068,904–79,316,550, forward strandZMIZ1PPIF: 79,347,461–79,355,350, forward strandPPIFZCCHC24: 79,351,307–79,445,673, reverse strandZCCHC24EIF5AL1: 79,512,533–79,516,440, forward strandEIF5AL1SFTPA2: 79,555,852–79,560,407, reverse strandSFTPA2SFTPA1: 79,559,387–79,649,708, forward strandSFTPA1NUTM2B: 79,703,227–79,714,681, forward strandNUTM2BNUTM2E: 79,826,739–79,850,878, forward strandNUTM2ESFTPD: 79,936,423–79,983,996, reverse strandSFTPDDiagram of SFTPA2: 6 exons on the reverse strand of chromosome 10Exon 6: 4 known disease-causing sitesExon 6: 79,555,852–79,557,585, 1,734 basesExon 5: 79,558,052–79,558,129, 78 basesExon 4: 79,558,886–79,559,005, 120 basesExon 3: 79,559,312–79,559,506, 195 basesExon 2: 79,559,969–79,559,998, 30 basesExon 1: 79,560,364–79,560,407, 44 bases6543215′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 2.2 kb of the gene's 4.6 kb; 747 of those bases code for the protein.

Sequencing SFTPA2

14Moderate

How hard SFTPA2 is to sequence with short reads, out of 100

  • Mappability39%
  • Homology0%
  • Repeats0%
  • GC content4.6%
  • Reference coverage0%

4

positions in SFTPA2 where ClinVar classes a change as pathogenic or likely pathogenic

4 of them (100%) fall in regions short reads find hard.

  • Low mappability (4 sites)

A whole genome covers all 4.6 kb of SFTPA2, introns included, not only the 2.2 kb of exons.

Traits linked to SFTPA2

The Human Phenotype Ontology lists these as features of the rare conditions SFTPA2 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.). SFTPA2 gene: surfactant protein A2. Retrieved 17 October 2026, from https://dantelabs.com/genes/sftpa2

Vancouver

Dante Labs. SFTPA2 gene: surfactant protein A2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sftpa2

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