CFD (complement factor D)

2017-08-01  

Identity

HGNC
CFD
LOCATION
19p13.3
LOCUSID
1675
ALIAS
ADIPSIN,ADN,DF,PFD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1675
MIM: 134350
HGNC: 2771
Ensembl: ENSG00000197766

Variants:

dbSNP: 1675
ClinVar: 1675
TCGA: ENSG00000197766
COSMIC: CFD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197766ENST00000327726P00746
ENSG00000197766ENST00000592860K7ERG9

Expression (GTEx)

0
500
1000
1500
2000
2500
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Complement and coagulation cascadesKEGGko04610
Complement and coagulation cascadesKEGGhsa04610
Staphylococcus aureus infectionKEGGko05150
Staphylococcus aureus infectionKEGGhsa05150
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Complement cascadeREACTOMER-HSA-166658
Initial triggering of complementREACTOMER-HSA-166663
Alternative complement activationREACTOMER-HSA-173736
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Response to elevated platelet cytosolic Ca2+REACTOMER-HSA-76005
Platelet degranulationREACTOMER-HSA-114608
Neutrophil degranulationREACTOMER-HSA-6798695

References

Pubmed IDYearTitleCitations
212056672010Structures of C3b in complex with factors B and D give insight into complement convertase formation.96
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
249959772014Adipsin is an adipokine that improves β cell function in diabetes.72
223627622012Inhibiting alternative pathway complement activation by targeting the factor D exosite.35
220031082011Complement factor D in age-related macular degeneration.28
193364752009Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.27
275358022016MASP-3 is the exclusive pro-factor D activator in resting blood: the lectin and the alternative complement pathways are fundamentally linked.24
229307222012Activation of the alternative complement pathway in vitreous is controlled by genetics in age-related macular degeneration.18
195382142010Elevated cerebrospinal fluid adiponectin and adipsin levels in patients with multiple sclerosis: a Finnish co-twin study.11
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11

Citation

Dessen P

CFD (complement factor D)

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

Online version: http://atlasgeneticsoncology.org/gene/56965/cfd-(complement-factor-d)