Gene
SFTPC
surfactant protein C
- HGNC 10802↗(opens in a new tab)
- Ensembl gene ENSG00000168484↗(opens in a new tab)
- NCBI Gene 6440↗(opens in a new tab)
Summary
- Cytogenetic location
- 8p21.3
- Coordinates
- Chromosome 8: 22,161,798–22,164,479 (GRCh38)
- Exons
- 6 exons across 2.7 kb
- Protein
- 191 amino acids
- Also known as
- SP-C, PSP-C, SMDP2, BRICD6
- Previous symbols
- SFTP2
- MANE Select transcript
- ENST00000679463.1NM_001317778.2
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Surfactant Metabolism Dysfunction
- 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
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Knowing can support earlier diagnosis, specialist respiratory care, consideration of whole-lung lavage or transplant where appropriate, and information for family planning.
How SFTPC is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 0.8 kb of the gene's 2.7 kb; 576 of those bases code for the protein.
How a genome test reads SFTPC
16
positions in SFTPC 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 2.7 kb of SFTPC, introns included, not only the 0.8 kb of exons.
Genes linked to the same conditions
- ABCA3ATP binding cassette subfamily A member 3Shares 1 condition
- CSF2RAcolony stimulating factor 2 receptor subunit alphaShares 1 condition
- CSF2RBcolony stimulating factor 2 receptor subunit betaShares 1 condition
- MARS1methionyl-tRNA synthetase 1Shares 1 condition
- SFTPBsurfactant protein BShares 1 condition
Traits linked to SFTPC
The Human Phenotype Ontology lists these as features of the rare conditions SFTPC can cause. Each trait's page lists the other genes linked to it.
Abnormality of the respiratory system
- Absent bronchoalveolar surfactant-protein C
- Cystic pattern on pulmonary HRCT
- Ground-glass opacification
- Increased respiratory rate or depth of breathing
- Low blood oxygen level
- Respiratory failure
- Respiratory function loss
- Type II pneumocyte hyperplasia
Show 27 more traits
- Abnormality in area between air sacs in lung
- Breathing difficulty
- Cough
- Crackles
- Decreased DLCO
- Exertional breathlessness
- Honeycomb lung
- Intralobular septal thickening
- Nasal flaring
- Nonspecific interstitial pneumonia
- Partial or complete collapse of part or entire lung
- Permanent enlargement of the airways of the lungs
- Pulmonary scarring
- Reduced forced vital capacity
- Reticular pattern on pulmonary HRCT
- Subpleural honeycombing
- Usual interstitial pneumonia
- Desquamative interstitial pneumonitis
- Orthodeoxia
- Respiratory tract infection
- Spontaneous collapsed lung
- Alveolar cell carcinoma
- Breathing difficulties
- Bronchial wall thickening
- Elevated bronchoalveolar lavage fluid neutrophil proportion
- Interstitial pneumonitis
- Intraalveolar phospholipid accumulation
External links
Gene records
Transcript
Protein
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 2026-10-16: 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 Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). SFTPC gene: surfactant protein C. Retrieved 16 October 2026, from https://dantelabs.com/genes/sftpc
Dante Labs. SFTPC gene: surfactant protein C [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/sftpc
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