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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1675
Gene name Gene Name - the full gene name approved by the HGNC.	Complement factor D
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CFD
Synonyms (NCBI Gene) Gene synonyms aliases	ADIPSIN, ADN, DF, PFD
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19p13.3
Summary Summary of gene provided in NCBI Entrez 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,

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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

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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

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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

Protein

UniProt ID

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

CFD (complement factor D)