Gene
CFD
complement factor D
- HGNC 2771(opens in a new tab)
- Ensembl gene ENSG00000197766(opens in a new tab)
- NCBI Gene 1675(opens in a new tab)
Summary
- Cytogenetic location
- 19p13.3
- Coordinates
- Chromosome 19: 859,664–863,641 (GRCh38)
- Exons
- 5 exons across 4 kb
- Protein
- 253 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- ADN
- Previous symbols
- DF, PFD
- MANE Select transcript
- ENST00000327726.11NM_001928.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
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Inherited Complement and Properdin Deficiencies
- Complement factor D deficiencyAutosomal recessive
Caused by changes in CFD, it impairs the alternative complement pathway and predisposes to Neisseria infections.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Meningococcal vaccination is recommended.
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
- Immunodeficiency Disease
One of 170 genes linked to it
Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How CFD is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 1.2 kb of the gene's 4 kb; 762 of those bases code for the protein.
How a genome test reads CFD
8
positions in CFD 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 4 kb of CFD, introns included, not only the 1.2 kb of exons.
Traits linked to CFD
The Human Phenotype Ontology lists these as features of the rare conditions CFD 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.). CFD gene: complement factor D. Retrieved 17 October 2026, from https://dantelabs.com/genes/cfd
Dante Labs. CFD gene: complement factor D [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cfd
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