Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1675
Gene name	Complement factor D
Gene symbol	CFD
Synonyms (NCBI Gene)	ADIPSINADNDFPFD
Chromosome	19
Chromosome location	19p13.3
Summary	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,

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894667	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs267606720	T>G	Pathogenic	Missense variant, coding sequence variant
rs267606721	T>C	Pathogenic	Missense variant, coding sequence variant
rs1021715434	G>C	Likely-pathogenic	Splice acceptor variant

Show/Hide all (87)

miRTarBase ID	miRNA	Experiments
MIRT887349	hsa-miR-1184	CLIP-seq
MIRT887350	hsa-miR-1539	CLIP-seq
MIRT887351	hsa-miR-1976	CLIP-seq
MIRT887352	hsa-miR-3135b	CLIP-seq
MIRT887353	hsa-miR-3193	CLIP-seq
MIRT887354	hsa-miR-34a	CLIP-seq
MIRT887355	hsa-miR-34c-5p	CLIP-seq
MIRT887356	hsa-miR-3616-3p	CLIP-seq
MIRT887357	hsa-miR-3652	CLIP-seq
MIRT887358	hsa-miR-3680	CLIP-seq
MIRT887359	hsa-miR-4418	CLIP-seq
MIRT887360	hsa-miR-4423-5p	CLIP-seq
MIRT887361	hsa-miR-4430	CLIP-seq
MIRT887362	hsa-miR-4436b-3p	CLIP-seq
MIRT887363	hsa-miR-449a	CLIP-seq
MIRT887364	hsa-miR-449b	CLIP-seq
MIRT887365	hsa-miR-4705	CLIP-seq
MIRT887366	hsa-miR-509-3-5p	CLIP-seq
MIRT887367	hsa-miR-509-5p	CLIP-seq
MIRT1921560	hsa-miR-1224-3p	CLIP-seq
MIRT1921561	hsa-miR-1234	CLIP-seq
MIRT1921562	hsa-miR-1237	CLIP-seq
MIRT1921563	hsa-miR-3127-3p	CLIP-seq
MIRT1921564	hsa-miR-448	CLIP-seq
MIRT1921565	hsa-miR-544	CLIP-seq
MIRT1921560	hsa-miR-1224-3p	CLIP-seq
MIRT1921561	hsa-miR-1234	CLIP-seq
MIRT1921562	hsa-miR-1237	CLIP-seq
MIRT1921563	hsa-miR-3127-3p	CLIP-seq
MIRT1921564	hsa-miR-448	CLIP-seq
MIRT1921565	hsa-miR-544	CLIP-seq
MIRT887352	hsa-miR-3135b	CLIP-seq
MIRT887354	hsa-miR-34a	CLIP-seq
MIRT887355	hsa-miR-34c-5p	CLIP-seq
MIRT887356	hsa-miR-3616-3p	CLIP-seq
MIRT887357	hsa-miR-3652	CLIP-seq
MIRT1963204	hsa-miR-3907	CLIP-seq
MIRT887361	hsa-miR-4430	CLIP-seq
MIRT887362	hsa-miR-4436b-3p	CLIP-seq
MIRT1921564	hsa-miR-448	CLIP-seq
MIRT887363	hsa-miR-449a	CLIP-seq
MIRT887364	hsa-miR-449b	CLIP-seq
MIRT887365	hsa-miR-4705	CLIP-seq
MIRT1963205	hsa-miR-548u	CLIP-seq
MIRT887349	hsa-miR-1184	CLIP-seq
MIRT887352	hsa-miR-3135b	CLIP-seq
MIRT887354	hsa-miR-34a	CLIP-seq
MIRT887355	hsa-miR-34c-5p	CLIP-seq
MIRT887356	hsa-miR-3616-3p	CLIP-seq
MIRT887357	hsa-miR-3652	CLIP-seq
MIRT887358	hsa-miR-3680	CLIP-seq
MIRT1963204	hsa-miR-3907	CLIP-seq
MIRT887359	hsa-miR-4418	CLIP-seq
MIRT887360	hsa-miR-4423-5p	CLIP-seq
MIRT887361	hsa-miR-4430	CLIP-seq
MIRT887362	hsa-miR-4436b-3p	CLIP-seq
MIRT1921564	hsa-miR-448	CLIP-seq
MIRT887363	hsa-miR-449a	CLIP-seq
MIRT887364	hsa-miR-449b	CLIP-seq
MIRT887365	hsa-miR-4705	CLIP-seq
MIRT887366	hsa-miR-509-3-5p	CLIP-seq
MIRT887367	hsa-miR-509-5p	CLIP-seq
MIRT1963205	hsa-miR-548u	CLIP-seq
MIRT887349	hsa-miR-1184	CLIP-seq
MIRT887352	hsa-miR-3135b	CLIP-seq
MIRT887354	hsa-miR-34a	CLIP-seq
MIRT887355	hsa-miR-34c-5p	CLIP-seq
MIRT887356	hsa-miR-3616-3p	CLIP-seq
MIRT887357	hsa-miR-3652	CLIP-seq
MIRT887358	hsa-miR-3680	CLIP-seq
MIRT1963204	hsa-miR-3907	CLIP-seq
MIRT887359	hsa-miR-4418	CLIP-seq
MIRT887360	hsa-miR-4423-5p	CLIP-seq
MIRT887361	hsa-miR-4430	CLIP-seq
MIRT887362	hsa-miR-4436b-3p	CLIP-seq
MIRT1921564	hsa-miR-448	CLIP-seq
MIRT887363	hsa-miR-449a	CLIP-seq
MIRT887364	hsa-miR-449b	CLIP-seq
MIRT887365	hsa-miR-4705	CLIP-seq
MIRT887366	hsa-miR-509-3-5p	CLIP-seq
MIRT887367	hsa-miR-509-5p	CLIP-seq
MIRT1963204	hsa-miR-3907	CLIP-seq
MIRT1921564	hsa-miR-448	CLIP-seq
MIRT1963205	hsa-miR-548u	CLIP-seq
MIRT1963204	hsa-miR-3907	CLIP-seq
MIRT1921564	hsa-miR-448	CLIP-seq
MIRT1963205	hsa-miR-548u	CLIP-seq

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002376	Process	Immune system process	IEA
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IDA	6769474, 9748277, 21205667, 22362762
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	TAS	1374388
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	497171, 6769474
GO:0005615	Component	Extracellular space	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	TAS	1374388
GO:0006956	Process	Complement activation	TAS	1374388
GO:0006957	Process	Complement activation, alternative pathway	IDA	6769474, 9748277, 21205667, 22362762
GO:0006957	Process	Complement activation, alternative pathway	IEA
GO:0006957	Process	Complement activation, alternative pathway	IEA
GO:0006957	Process	Complement activation, alternative pathway	TAS
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	TAS	1374388
GO:0009617	Process	Response to bacterium	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0031638	Process	Zymogen activation	IDA	6769474, 9748277, 21205667, 22362762
GO:0034774	Component	Secretory granule lumen	TAS
GO:0045087	Process	Innate immune response	IEA
GO:0051604	Process	Protein maturation	IBA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

MIM	HGNC	e!Ensembl
134350	2771	ENSG00000197766

P00746

Protein name

Complement factor D (EC 3.4.21.46) (Adipsin) (C3 convertase activator) (Properdin factor D)

Protein function

Serine protease that initiates the alternative pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system (PubMed:21205667, PubMed:22362

PDB

1BIO , 1DFP , 1DIC , 1DST , 1DSU , 1FDP , 1HFD , 2XW9 , 2XWA , 2XWB , 4CBN , 4CBO , 4D9R , 5FBE , 5FBI , 5FCK , 5MT0 , 5MT4 , 5NAR , 5NAT , 5NAW , 5NB6 , 5NB7 , 5NBA , 5TCA , 5TCC , 6FTY , 6FTZ , 6FUG , 6FUH , 6FUI , 6FUJ , 6FUT , 6QMR , 6QMT , 6VMJ , 6VMK , 8D95 , 8DEA , 8DG6

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00089	Trypsin	26 → 248	Trypsin	Domain

Sequence

MHSWERLAVLVLLGAAACAAPPRGRILGGREAEAHARPYMASVQLNGAHLCGGVLVAEQW
VLSAAHCLEDAADGKVQVLLGAHSLSQPEPSKRLYDVLRAVPHPDSQPDTIDHDLLLLQL
SEKATLGPAVRPLPWQRVDRDVAPGTLCDVAGWGIVNHAGRRPDSLQHVLLPVLDRATCN
RRTHHDGAITERLMCAESNRRDSCKGDSGGPLVCGGVLEGVVTSGSRVCGNRKKPGIYTR
VASYAAWIDSVLA

Sequence length

253

Interactions

View interactions

	KEGG		Reactome
	Complement and coagulation cascades Staphylococcus aureus infection Coronavirus disease - COVID-19		Platelet degranulation Alternative complement activation Neutrophil degranulation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Recurrent Neisseria infections due to factor D deficiency	Pathogenic; Likely pathogenic	rs752800376, rs780270249, rs104894667, rs1021715434	RCV003989741 RCV005636834 RCV000018032 RCV003992392	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ASBESTOSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CFD-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEMENT FACTOR D DEFICIENCY	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYCLIC NEUTROPENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOMERULONEPHRITIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CYSTS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY FIBROSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

CFD (complement factor D)