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

Aliases for CFD Gene

Aliases for CFD Gene

  • Complement Factor D 2 3 5
  • Properdin Factor D 2 3 4
  • Adipsin 2 3 4
  • D Component Of Complement (Adipsin) 2 3
  • C3 Convertase Activator 3 4
  • EC 3.4.21.46 4 56
  • PFD 3 4
  • DF 3 4
  • Complement Factor D Preproprotein 3
  • Complement Factor D (Adipsin) 2
  • EC 3.4.21 56
  • 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) is a Protein Coding gene. Diseases associated with CFD include Complement Factor D Deficiency and Body Mass Index Quantitative Trait Locus 11. Among its related pathways are Creation of C4 and C2 activators and Complement and coagulation cascades. 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 GZMA.

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.

Additional gene information for CFD Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFD Gene

Genomics for CFD Gene

GeneHancer (GH) Regulatory Elements for CFD Gene

Promoters and enhancers for CFD Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I000858 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 579.9 +0.1 102 2.7 PKNOX1 ATF1 FOXA2 ARID4B SIN3A POLR2B GLIS2 ZNF143 KLF7 ATF7 CFD C19orf24 MED16 PIR33777
GH19I001382 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 14.8 +524.4 524383 2.2 MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NDUFS7 TRF-GAA1-6 TRN-GTT2-6 PIR60227 PIR43938 CIRBP SF3A2 TMEM259 MUM1 TCF3
GH19I001846 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 14.8 +988.2 988202 3.7 ARNT ARID4B SIN3A ZNF2 YY1 POLR2B ZNF213 ZNF207 ZNF143 ZHX2 REXO1 ATP8B3 CFD ARHGAP45 TCF3 MIDN CNN2 LOC100288123
GH19I000982 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 14.9 +124.4 124433 3.2 HDGF MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B WDR18 MUM1 CFD CIRBP DAZAP1 PALM MIDN CNN2 MIER2 GC19P000978
GH19I000747 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13.3 -107.7 -107728 9.4 PKNOX1 ATF1 FOXA2 ARID4B SIN3A ZBTB7B BRCA1 ZNF143 FOS SP5 MISP PRTN3 ELANE CFD FSTL3 PLPP2 TPGS1 GC19P000749 GC19P000763 PALM
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CFD on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CFD gene promoter:

Genomic Locations for CFD Gene

Genomic Locations for CFD Gene
chr19:859,643-863,630
(GRCh38/hg38)
Size:
3,988 bases
Orientation:
Plus strand
chr19:859,453-863,624
(GRCh37/hg19)

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

Selected DME Specific Peptides for CFD Gene

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

Post-translational modifications for CFD Gene

  • Ubiquitination at posLast=9292 and Lys205
  • Modification sites at PhosphoSitePlus

Other Protein References for CFD Gene

ENSEMBL proteins:
REFSEQ proteins:

Protein Products

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

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 :
  • 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 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

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 TAS,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:

Clone Products

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
peroxisome 2
plasma membrane 1
mitochondrion 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

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,IDA 19056867
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

Gene Ontology (GO) - Biological Process for CFD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0006508 proteolysis IEA --
GO:0006956 complement activation TAS 1374388
GO:0006957 complement activation, alternative pathway TAS --
GO:0043312 neutrophil degranulation 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

(9) 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

(7) 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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for CFD Gene



Protein tissue co-expression partners for CFD Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CFD Gene:

CFD

SOURCE GeneReport for Unigene cluster for CFD Gene:

Hs.155597

Evidence on tissue expression from TISSUES for CFD Gene

  • Intestine(4.4)
  • Skin(4.4)
  • Spleen(4.1)
  • Muscle(3.8)
  • Heart(3.6)
  • Blood(2.7)
  • Stomach(2.6)

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 33 34
  • 98.81 (n)
dog
(Canis familiaris)
Mammalia CFD 33 34
  • 87.87 (n)
cow
(Bos Taurus)
Mammalia CFD 33 34
  • 84.08 (n)
-- 34
  • 82 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Cfd 33
  • 73.91 (n)
mouse
(Mus musculus)
Mammalia Cfd 33 16 34
  • 71.18 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CFD 34
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves CFD 33 34
  • 66.67 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia cfd 33
  • 54.07 (n)
zebrafish
(Danio rerio)
Actinopterygii cfd 33 34
  • 50.76 (n)
Species where no ortholog for CFD was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs104894667 pathogenic, Complement factor d deficiency 860,686(+) C/A/T coding_sequence_variant, missense_variant, stop_gained
rs267606720 pathogenic, Complement factor d deficiency, Complement factor D deficiency (CFDD) [MIM:613912] 863,114(+) T/G coding_sequence_variant, missense_variant
rs267606721 pathogenic, Complement factor d deficiency, Complement factor D deficiency (CFDD) [MIM:613912] 863,116(+) T/C coding_sequence_variant, missense_variant
rs1629038 benign, not specified 860,852(+) G/C intron_variant
rs1000024737 -- 862,708(+) G/T intron_variant

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

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

- 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
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 22 58
  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 22 58
  3. 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 44 58
  4. Lack of association of CFD polymorphisms with advanced age-related macular degeneration. (PMID: 21139680) Zeng J … Zhang K (Molecular vision 2010) 3 44 58
  5. 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 22 58

Products for CFD Gene

Sources for CFD Gene

Content
Loading form....