Tissue expression of CFD - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	CFD
Gene description	Complement factor D (adipsin)
Protein class	Disease related genes Enzymes Plasma proteins Potential drug targets Predicted secreted proteins
Predicted localization	Secreted
Number of transcripts	2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Tissue enriched (adipose tissue)
GTEx:	Expressed in all
FANTOM5:	Mixed

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (adipose tissue)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Mixed

GENE INFORMATION
Gene name	CFD (HGNC Symbol)
Synonyms	ADN, DF, PFD
Description	Complement factor D (adipsin) (HGNC Symbol)
Entrez gene 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, 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]
Chromosome	19
Cytoband	p13.3
Chromosome location (bp)	859643 - 863630
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000197766 (version 83.38)
Entrez gene	1675
UniProt	P00746 (UniProt - Evidence at protein level)
neXtProt	NX_P00746
Antibodypedia	CFD antibodies

PROTEIN BROWSER

CFD-001	CFD-002

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
CFD-001 ENSP00000332139 ENST00000327726	P00746 [Direct mapping] Complement factor D Show all	Enzymes ENZYME proteins Hydrolases Peptidases Serine-type peptidases SPOCTOPUS predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0002576 [platelet degranulation] GO:0004252 [serine-type endopeptidase activity] GO:0005576 [extracellular region] GO:0005615 [extracellular space] GO:0006508 [proteolysis] GO:0006956 [complement activation] GO:0006957 [complement activation, alternative pathway] GO:0007596 [blood coagulation] GO:0008236 [serine-type peptidase activity] GO:0030168 [platelet activation] GO:0031093 [platelet alpha granule lumen] GO:0045087 [innate immune response] GO:0070062 [extracellular exosome] Show all	253 aa 27 kDa	Yes	0
CFD-002 ENSP00000468253 ENST00000592860	K7ERG9 [Direct mapping] Complement factor D Show all	SPOCTOPUS predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0004252 [serine-type endopeptidase activity] GO:0006508 [proteolysis] Show all	260 aa 27.9 kDa	Yes	0