Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CFD Gene

Aliases for CFD Gene

  • Complement Factor D (Adipsin) 2 3 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 63
  • ADIPSIN 3 4
  • PFD 3 4
  • DF 3 4
  • Complement Factor D Preproprotein 3
  • EC 3.4.21 63
  • ADN 3

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 (Adipsin)) is a Protein Coding gene. Diseases associated with CFD include complement factor d deficiency and properdin deficiency, x-linked. Among its related pathways are Platelet activation, signaling and aggregation and Complement and coagulation cascades. GO annotations related to this gene include serine-type endopeptidase activity and serine-type peptidase activity. An important paralog of this gene is ELANE.

UniProtKB/Swiss-Prot 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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFD Gene

Genomics for CFD Gene

Regulatory Elements for CFD Gene

Promoters for CFD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CFD on UCSC Golden Path with GeneCards custom track

Genomic Location for CFD Gene

Chromosome:
19
Start:
859,643 bp from pter
End:
863,630 bp from pter
Size:
3,988 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=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CFD Gene

neXtProt entry for CFD Gene

Proteomics data for CFD Gene at MOPED

Selected DME Specific Peptides for CFD Gene

Post-translational modifications for CFD Gene

  • Ubiquitination at Lys 92 and Lys 205
  • Modification sites at PhosphoSitePlus

Other Protein References for CFD Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for CFD (Complement Factor D/Adipsin)

Domains & Families for CFD Gene

Gene Families for CFD Gene

Suggested Antigen Peptide Sequences for CFD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P00746

UniProtKB/Swiss-Prot:

CFAD_HUMAN :
  • Contains 1 peptidase S1 domain.
  • Belongs to the peptidase S1 family.
Domain:
  • Contains 1 peptidase S1 domain.
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 CatalyticActivity:
Selective cleavage of Arg- -Lys bond in complement factor B when in complex with complement subcomponent C3b or with cobra venom factor.
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.

Enzyme Numbers (IUBMB) for CFD Gene

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:

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for CFD Gene COMPARTMENTS Subcellular localization image for CFD gene
Compartment Confidence
extracellular 5
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CFD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0031093 platelet alpha granule lumen TAS --
genes like me logo Genes that share ontologies with CFD: view

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
2 Qiagen pathways for CFD Gene

Gene Ontology (GO) - Biological Process for CFD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0006956 complement activation TAS 1374388
GO:0045087 innate immune response 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

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

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

(9) 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

Unigene Clusters for CFD Gene

Complement factor D (adipsin):
Representative Sequences:

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

No ASD Table

Relevant External Links for CFD Gene

GeneLoc Exon Structure for
CFD
ECgene alternative splicing isoforms for
CFD

Expression for CFD Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for CFD Gene



SOURCE GeneReport for Unigene cluster for CFD Gene Hs.155597

genes like me logo Genes that share expression patterns with CFD: view

Protein tissue co-expression partners for CFD Gene

- Elite partner

Primer Products

In Situ Assay Products

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 36
  • 98 (a)
OneToOne
CFD 35
  • 98.81 (n)
  • 98.42 (a)
cow
(Bos Taurus)
Mammalia -- 36
  • 82 (a)
OneToMany
CFD 36
  • 78 (a)
OneToMany
CFD 35
  • 84.08 (n)
  • 81.38 (a)
dog
(Canis familiaris)
Mammalia CFD 35
  • 87.87 (n)
  • 84.1 (a)
CFD 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cfd 16
Cfd 36
  • 64 (a)
OneToOne
Cfd 35
  • 71.18 (n)
  • 66.53 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia CFD 36
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cfd 35
  • 73.91 (n)
  • 68.38 (a)
chicken
(Gallus gallus)
Aves CFD 35
  • 66.67 (n)
  • 64.08 (a)
CFD 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cfd 35
  • 54.07 (n)
  • 52.03 (a)
zebrafish
(Danio rerio)
Actinopterygii cfd 36
  • 41 (a)
OneToOne
cfd 35
  • 50.76 (n)
  • 43.15 (a)
Species with no ortholog for CFD:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for CFD Gene

Paralogs for CFD Gene

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

Variants for CFD Gene

Sequence variations from dbSNP and Humsavar for CFD Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_034866 Complement factor D deficiency (CFDD)
VAR_034867 Complement factor D deficiency (CFDD)
rs2230216 - 863,220(+) TGGAT(A/C/G/T)GACAG reference, missense
rs1135146 -- 863,388(-) ATCTC(C/G)AACTC utr-variant-3-prime
rs1626564 -- 861,102(-) GAGAG(G/T)TCGAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv470101 CNV Loss 18288195
dgv3508n71 CNV Loss 21882294
dgv3513n71 CNV Loss 21882294
dgv3516n71 CNV Loss 21882294
dgv3549n71 CNV Loss 21882294
dgv3550n71 CNV Loss 21882294
dgv3551n71 CNV Loss 21882294
dgv3552n71 CNV Loss 21882294
nsv910292 CNV Loss 21882294
nsv910310 CNV Loss 21882294
dgv3555n71 CNV Loss 21882294
dgv3558n71 CNV Loss 21882294
nsv910320 CNV Loss 21882294
dgv3559n71 CNV Loss 21882294
dgv3560n71 CNV Loss 21882294
dgv3561n71 CNV Loss 21882294
nsv910329 CNV Loss 21882294
dgv3562n71 CNV Loss 21882294
nsv910332 CNV Loss 21882294
nsv2385 CNV Insertion 18451855

Variation tolerance for CFD Gene

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

Relevant External Links for CFD Gene

HapMap Linkage Disequilibrium report
CFD
Human Gene Mutation Database (HGMD)
CFD

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

Disorders for CFD Gene

MalaCards: The human disease database

(4) MalaCards diseases for CFD Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
complement factor d deficiency
  • complement factor d
properdin deficiency, x-linked
  • polyostotic fibrous dysplasia
recurrent neisseria infections due to factor d deficiency
obesity
  • obesity, association with
- 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.

Relevant External Links for CFD

Genetic Association Database (GAD)
CFD
Human Genome Epidemiology (HuGE) Navigator
CFD
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CFD
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 R.T. … Spiegelman B.M. (J. Biol. Chem. 1992) 2 3 4 23 67
  2. Elevated cerebrospinal fluid adiponectin and adipsin levels in patients with multiple sclerosis: a Finnish co-twin study. (PMID: 19538214) Hietaharju A. … Moilanen E. (Eur. J. Neurol. 2010) 3 23
  3. Serum adipsin levels in patients with seasonal allergic rhinitis: preliminary data. (PMID: 19699327) Ciprandi G. … Marseglia G. (Int. Immunopharmacol. 2009) 3 23
  4. Synthesis of factor D by normal human hepatocytes. (PMID: 10971122) Kitano E. … Kitamura H. (Int. Arch. Allergy Immunol. 2000) 3 23
  5. Modest release of adipsin/factor D by liposuction when using the superwet or tumescent technique. (PMID: 9145127) Samdal F. … Truedsson L. (Plast. Reconstr. Surg. 1997) 3 23

Products for CFD Gene

Sources for CFD Gene

Back to Top

Content