Gene
CFP
complement factor properdin
- HGNC 8864↗(opens in a new tab)
- Ensembl gene ENSG00000126759↗(opens in a new tab)
- NCBI Gene 5199↗(opens in a new tab)
Summary
- Cytogenetic location
- Xp11.23
- Coordinates
- Chromosome X: 47,623,282–47,629,930 (GRCh38)
- Exons
- 9 exons across 6.6 kb
- Protein
- 469 amino acids
- Inheritance
- X-linked recessive
- Previous symbols
- PFC
- MANE Select transcript
- ENST00000396992.8NM_001145252.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
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Inherited Complement and Properdin Deficiencies
- Properdin deficiency, X-linkedX-linked recessive
Caused by changes in CFP, it affects mainly males and predisposes to severe meningococcal disease.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Meningococcal vaccination of affected males reduces the risk of severe infection.
Broader groupings
Other Inborn Errors of Immunity
- Inborn error of immunity
One of 114 genes linked to it
Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.
- 1 GenCC submitter rates it definitive or strong
Inheritance
- X-linked recessive
- The change is on the X chromosome, so one copy affects males, who have one X, while females with one are usually carriers. A carrier mother passes it on to each child with a one-in-two chance.
How CFP is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
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 2.5 kb of the gene's 6.6 kb; 1,410 of those bases code for the protein.
How a genome test reads CFP
1
position in CFP 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 6.6 kb of CFP, introns included, not only the 2.5 kb of exons.
Genes linked to the same conditions
- ADARadenosine deaminase RNA specificShares 1 condition
- AICDAactivation induced cytidine deaminaseShares 1 condition
- AP3B1adaptor related protein complex 3 subunit beta 1Shares 1 condition
- ATP6AP1ATPase H+ transporting accessory protein 1Shares 1 condition
- BCL10BCL10 immune signaling adaptorShares 1 condition
- BCL11BBCL11 transcription factor BShares 1 condition
- BLNKB cell linkerShares 1 condition
- BLOC1S6biogenesis of lysosomal organelles complex 1 subunit 6Shares 1 condition
- BTKBruton tyrosine kinaseShares 1 condition
- C1QAcomplement C1q A chainShares 1 condition
- C1QBcomplement C1q B chainShares 1 condition
- C1QCcomplement C1q C chainShares 1 condition
Traits linked to CFP
The Human Phenotype Ontology lists these as features of the rare conditions CFP can cause. Each trait's page lists the other genes linked to it.
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.). CFP gene: complement factor properdin. Retrieved 16 October 2026, from https://dantelabs.com/genes/cfp
Dante Labs. CFP gene: complement factor properdin [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cfp
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