This gene encodes a member of the S1, or chymotrypsin, family of serine peptidases. This protease catalyzes the cleavage of factor B, the rate-limiting step of the alternative pathway of complement activation. This protein also functions as an adipokine, a cell signaling protein secreted by adipocytes, which regulates insulin secretion in mice. Mutations in this gene underlie c... See more...

Aliases for CFD Gene

Aliases for CFD Gene

  • Complement Factor D 2 3 4 5
  • Properdin Factor D 2 3 4
  • D Component Of Complement (Adipsin) 2 3
  • C3 Convertase Activator 3 4
  • EC 3.4.21.46 4 51
  • Adipsin 2 4
  • ADN 2 3
  • PFD 3 4
  • DF 3 4
  • Complement Factor D Preproprotein 3
  • Complement Factor D (Adipsin) 2
  • EC 3.4.21'); 51
  • EC 3.4.21 51
  • ADIPSIN 3
  • CFD 5

External Ids for CFD Gene

Previous HGNC Symbols for CFD Gene

  • DF
  • PFD

Previous GeneCards Identifiers for CFD Gene

  • GC02U900222
  • GC19P000811
  • GC19P000628

Summaries for CFD Gene

Entrez Gene Summary for CFD Gene

  • This gene encodes a member of the S1, or chymotrypsin, family of serine peptidases. This protease catalyzes the cleavage of factor B, the rate-limiting step of the alternative pathway of complement activation. This protein also functions as an adipokine, a cell signaling protein secreted by adipocytes, which regulates insulin secretion in mice. Mutations in this gene underlie complement factor D deficiency, which is associated with recurrent bacterial meningitis infections in human patients. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protease. [provided by RefSeq, Nov 2015]

GeneCards Summary for CFD Gene

CFD (Complement Factor D) is a Protein Coding gene. Diseases associated with CFD include Complement Factor D Deficiency and Anorexia Nervosa. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Innate Immune System. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and serine-type peptidase activity. An important paralog of this gene is F12.

UniProtKB/Swiss-Prot Summary for CFD Gene

  • Factor D cleaves factor B when the latter is complexed with factor C3b, activating the C3bbb complex, which then becomes the C3 convertase of the alternate pathway. Its function is homologous to that of C1s in the classical pathway.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CFD Gene

Genomics for CFD Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CFD Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFD on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CFD

Top Transcription factor binding sites by QIAGEN in the CFD gene promoter:
  • AML1a
  • GR
  • GR-alpha
  • GR-beta

Genomic Locations for CFD Gene

Genomic Locations for CFD Gene
chr19:859,664-863,641
(GRCh38/hg38)
Size:
3,978 bases
Orientation:
Plus strand
chr19:859,453-863,624
(GRCh37/hg19)
Size:
4,172 bases
Orientation:
Plus strand

Genomic View for CFD Gene

Genes around CFD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFD Gene

Proteins for CFD Gene

  • Protein details for CFD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00746-CFAD_HUMAN
    Recommended name:
    Complement factor D
    Protein Accession:
    P00746
    Secondary Accessions:
    • B4DV76
    • Q5U5S1
    • Q86VJ5
    • Q8N4E0
    • Q8WZB4

    Protein attributes for CFD Gene

    Size:
    253 amino acids
    Molecular mass:
    27033 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAA35527.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CFD Gene

neXtProt entry for CFD Gene

Selected DME Specific Peptides for CFD Gene

P00746:
  • MCAESNRRD
  • GDSGGPL
  • CKGDSGG
  • WVLSAAHC
  • RPYMASV
  • SGGPLVC

Post-translational modifications for CFD Gene

  • Ubiquitination at Lys92 and Lys205
  • Modification sites at PhosphoSitePlus

Other Protein References for CFD Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CFD Gene

Gene Families for CFD Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted secreted proteins

Protein Domains for CFD Gene

InterPro:
Blocks:
  • Serine protease, trypsin family
  • Chymotrypsin serine protease family (S1) signature
ProtoNet:

Suggested Antigen Peptide Sequences for CFD Gene

GenScript: Design optimal peptide antigens:
  • Properdin factor D (CFAD_HUMAN)
  • DF protein (Q6FHW3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P00746

UniProtKB/Swiss-Prot:

CFAD_HUMAN :
  • Belongs to the peptidase S1 family.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with CFD: view

Function for CFD Gene

Molecular function for CFD Gene

UniProtKB/Swiss-Prot Function:
Factor D cleaves factor B when the latter is complexed with factor C3b, activating the C3bbb complex, which then becomes the C3 convertase of the alternate pathway. Its function is homologous to that of C1s in the classical pathway.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Selective cleavage of Arg-|-Lys bond in complement factor B when in complex with complement subcomponent C3b or with cobra venom factor.; EC=3.4.21.46;.

Enzyme Numbers (IUBMB) for CFD Gene

Phenotypes From GWAS Catalog for CFD Gene

Gene Ontology (GO) - Molecular Function for CFD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA --
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA,TAS 1374388
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with CFD: view
genes like me logo Genes that share phenotypes with CFD: view

Human Phenotype Ontology for CFD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CFD Gene

MGI Knock Outs for CFD:
  • Cfd Cfd<tm1Yxu>
  • Cfd Cfd<tm1Pa>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFD

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for CFD Gene

Localization for CFD Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFD Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CFD gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CFD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
GO:0031093 platelet alpha granule lumen TAS --
GO:0034774 secretory granule lumen TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with CFD: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CFD Gene

Pathways & Interactions for CFD Gene

genes like me logo Genes that share pathways with CFD: view

Pathways by source for CFD Gene

1 GeneGo (Thomson Reuters) pathway for CFD Gene
  • Immune response Alternative complement pathway
2 Qiagen pathways for CFD Gene
  • Alternative Complement Pathway
  • Complement Pathway

Gene Ontology (GO) - Biological Process for CFD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0002576 platelet degranulation TAS --
GO:0006508 proteolysis IEA --
GO:0006956 complement activation TAS 1374388
GO:0006957 complement activation, alternative pathway IEA,TAS --
genes like me logo Genes that share ontologies with CFD: view

No data available for SIGNOR curated interactions for CFD Gene

Drugs & Compounds for CFD Gene

(8) Drugs for CFD Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
2-Aminobenzyl alcohol Experimental Pharma Target 0
3,4-Dichloroisocoumarin Experimental Pharma Target 0

(8) Additional Compounds for CFD Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CFD: view

Transcripts for CFD Gene

mRNA/cDNA for CFD Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFD

Alternative Splicing Database (ASD) splice patterns (SP) for CFD Gene

No ASD Table

Relevant External Links for CFD Gene

GeneLoc Exon Structure for
CFD

Expression for CFD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CFD Gene

mRNA differential expression in normal tissues according to GTEx for CFD Gene

This gene is overexpressed in Adipose - Subcutaneous (x5.1) and Adipose - Visceral (Omentum) (x4.5).

Protein differential expression in normal tissues from HIPED for CFD Gene

This gene is overexpressed in Synovial fluid (29.4), Serum (7.3), and Urine (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CFD Gene



Protein tissue co-expression partners for CFD Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CFD

SOURCE GeneReport for Unigene cluster for CFD Gene:

Hs.155597

Evidence on tissue expression from TISSUES for CFD Gene

  • Intestine(4.6)
  • Skin(4.6)
  • Spleen(4.4)
  • Muscle(4.1)
  • Heart(4)
  • Blood(3.2)
  • Stomach(3.2)
  • Nervous system(2.7)
  • Kidney(2.6)
  • Liver(2.5)
  • Lung(2.4)
  • Thyroid gland(2.3)
  • Bone marrow(2.3)
  • Pancreas(2.2)
  • Bone(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CFD Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • immune
  • nervous
Regions:
Head and neck:
  • brain
  • head
Abdomen:
  • liver
General:
  • blood
  • white blood cell
genes like me logo Genes that share expression patterns with CFD: view

No data available for mRNA Expression by UniProt/SwissProt for CFD Gene

Orthologs for CFD Gene

This gene was present in the common ancestor of chordates.

Orthologs for CFD Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CFD 30 31
  • 98.81 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CFD 30 31
  • 87.87 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CFD 30 31
  • 84.08 (n)
OneToMany
-- 31
  • 82 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Cfd 30
  • 73.91 (n)
Mouse
(Mus musculus)
Mammalia Cfd 30 17 31
  • 71.18 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CFD 31
  • 63 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CFD 30 31
  • 66.67 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cfd 30
  • 54.07 (n)
Zebrafish
(Danio rerio)
Actinopterygii cfd 30 31
  • 50.76 (n)
OneToOne
Species where no ortholog for CFD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CFD Gene

ENSEMBL:
Gene Tree for CFD (if available)
TreeFam:
Gene Tree for CFD (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CFD: view image

Paralogs for CFD Gene

genes like me logo Genes that share paralogs with CFD: view

Variants for CFD Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CFD Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
636410 Uncertain Significance: not provided 860,686(+) C/T MISSENSE_VARIANT
636704 Likely Pathogenic: not provided 860,616(+) G/C SPLICE_ACCEPTOR_VARIANT
715886 Benign: not provided 861,911(+) C/T SYNONYMOUS_VARIANT
728897 Benign: not provided 860,780(+) G/T INTRON_VARIANT
748902 Likely Benign: not provided 860,999(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for CFD Gene

Structural Variations from Database of Genomic Variants (DGV) for CFD Gene

Variant ID Type Subtype PubMed ID
dgv134n111 CNV deletion 26073780
nsv1072293 CNV deletion 25765185
nsv1136264 CNV deletion 24896259
nsv2385 CNV insertion 18451855
nsv470101 CNV loss 18288195
nsv953938 CNV deletion 24416366

Variation tolerance for CFD Gene

Gene Damage Index Score: 3.35; 53.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CFD Gene

Human Gene Mutation Database (HGMD)
CFD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFD

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFD Gene

Disorders for CFD Gene

MalaCards: The human disease database

(6) MalaCards diseases for CFD Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
complement factor d deficiency
  • cfdd
anorexia nervosa
  • an
body mass index quantitative trait locus 11
  • bmiq11
hemolytic uremic syndrome, atypical 1
  • hemolytic uremic syndrome, atypical, susceptibility to, 1
hemochromatosis, type 1
  • hfe1
- elite association - COSMIC cancer census association via MalaCards
Search CFD in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CFAD_HUMAN
  • Complement factor D deficiency (CFDD) [MIM:613912]: An immunologic disorder characterized by increased susceptibility to bacterial infections, particularly Neisseria infections, due to a defect in the alternative complement pathway. {ECO:0000269 PubMed:16527897}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CFD

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CFD: view

No data available for Genatlas for CFD Gene

Publications for CFD Gene

  1. Human adipsin is identical to complement factor D and is expressed at high levels in adipose tissue. (PMID: 1374388) White RT … Spiegelman BM (The Journal of biological chemistry 1992) 2 3 4 23
  2. Crystal structure of a complement factor D mutant expressing enhanced catalytic activity. (PMID: 7592653) Kim S … Volanakis JE (The Journal of biological chemistry 1995) 3 4 23
  3. Elevated cerebrospinal fluid adiponectin and adipsin levels in patients with multiple sclerosis: a Finnish co-twin study. (PMID: 19538214) Hietaharju A … Moilanen E (European journal of neurology 2010) 3 23
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  5. Lack of association of CFD polymorphisms with advanced age-related macular degeneration. (PMID: 21139680) Zeng J … Zhang K (Molecular vision 2010) 3 41

Products for CFD Gene

Sources for CFD Gene