1. Gene
  2. CFD - complement factor D Gene

CFD - complement factor D Gene

Homo sapiens

Also known as DF; ADN; PFD; ADIPSIN

Gene ID: 1675 | Gene type: protein coding

About CFD

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:859,664-863,641 (from NCBI)

This gene has 7 transcripts (splice variants), 1 gene allele, 134 orthologues, 16 paralogues and is associated with 2 phenotypes. Biased expression in fat (RPKM 584.9), colon (RPKM 88.4) and 1 other tissue.

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]

CFD Products(2)

mRNA Protein Name
NM_001317335.2 NP_001304264.1 complement factor D isoform 2 precursor
NM_001928.4 NP_001919.2 complement factor D isoform 1 preproprotein

CFD Protein Structure

Trypsin

Trypsin: Trypsin (26 - 248)

  • 0
  • 100
  • 200
  • 253 a.a.
Protein Preferred Names Protein Names

complement factor D

C3 convertase activator

Recombinant CFD Proteins

Related Diseases

Diseases Alias
Complement Factor D Deficiency

Recurrent Neisseria Infections Due To Factor D Deficiency

CFDD

Factor D Deficiency

Deficiency, Complement Factor D

Meningococcemia
Myofibrillar Myopathy 10

MFM10

Myopathy, Myofibrillar, 10

Bacterial Meningitis

Meningitis, Bacterial

Meningitis Bacterial

Bm - [Bacterial Meningitis]

Leptomeningitis Bacterial

Pachymeningitis Bacterial

Arachnoiditis Bacterial

Anorexia Nervosa

Anorexia Nervosa, Susceptibility To

ANON

Anorexia Nervosa, Susceptibility To, 1

An

Anorexia Nervosa 1

An - [Anorexia Nervosa]

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

Chronic Kidney Disease

Chronic Renal Disease

Chronic Kidney Failure

Ckd

Chronic Renal Failure

Kidney Failure, Chronic

Chronic Renal Failure Syndrome

Crf

Renal Failure - Chronic

Renal Failure Chronic

Chronic Kidney Diseases

Chronic Kidney Disease Stage 5

Ckd - [Chronic Kidney Disease]

Crf - [Chronic Renal Failure]

Chronic Kidney Impairment

Chronic Renal Impairment

Chronic Kidney Shutdown

Chronic Hypoxic Kidney Failure

Chronic Kidney Collapse

Chronic Renal Insufficiency

Chronic Kidney Toxaemia

Chronic Kidney Hypofunction

Chronic Renal Suppression

Chronic Renal Failure, Stage 5

Ckd - [Chronic Kidney Disease] Stage 5

End Stage Kidney Failure

End Stage Renal Failure

End Stage Kidney Disease

End Stage Renal Disease

End Stage Chronic Renal Failure

Esrf - [End Stage Renal Failure]

Esrd - [End Stage Renal Diseases]

Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²

Hemolytic Uremic Syndrome, Atypical 1

Atypical Hemolytic-Uremic Syndrome

Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1

Atypical Hemolytic Uremic Syndrome

Hemolytic Uremic Syndrome, Atypical, Susceptibility To

Ahus

AHUS1

Hemolytic-Uremic Syndrome

Ahus 1

Ahus, Susceptibility To, 1

Hemolytic Uremic Syndrome, Atypical

Non-Shiga-Like Toxin-Associated Hus

Non-Stx-Hus

Nonenteropathic Hus

Atypical Hus

Shiga Toxin-Associated Hemolytic Uremic Syndrome

D+ Hus

Ehec-Hus

Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli

Hemolytic Uremic Syndrome With Diarrhea

Stec-Hus

Shiga-Like Toxin-Associated Hus

Stx-Hus

Typical Hus

Typical Hemolytic Uremic Syndrome

Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies

Atypical Hus With Anti-Factor H Antibodies

Ahus With Anti-Factor H Antibodies

Ahus With Neutralizing Autoantibodies Against Factor H

Hemolytic Uremic Syndrome Atypical 1

Atypical Hemolytic Uremic Syndrome With H Factor Anomaly

D Hus

Hemolytic-Uremic Syndrome Without Diarrhea

Hemolytic-Uremic Syndrome, Atypical, Type 1

Hemolytic Uremic Syndrome, Typical

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus CFD VGNC VGNC:60826
Mus musculus CFD MGD MGI:87931
Macaca mulatta CFD VGNC VGNC:71115
Canis familiaris CFD VGNC VGNC:39174
Bos taurus CFD VGNC VGNC:97253
Rattus norvegicus CFD RGD RGD:2498
Others CFD NCBI