CFD - complement factor D Gene

Also Known as DF; ADN; PFD; ADIPSIN

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1675

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

Cat. No. Product Name Accession Purity
HY-P7861 Complement Factor D/Adipsin Protein, Human (HEK293, His) P00746 (I26-A253) ≥ 95%, as determined by reducing SDS-PAGE.
HY-P78545 Complement Factor D/Adipsin Protein, Human (HEK293, Fc) P00746 (I26-A253) ≥ 95%, as determined by Bis-Tris PAGE.
HY-P7861A Complement Factor D/Adipsin Protein, Human (HEK293, His, Solution) P00746 (I26-A253) ≥ 95%, as determined by reducing SDS-PAGE.

CFD Antibodies

Cat. No. Product Name Application Reactivity
HY-P83046 Factor D Antibody (YA2791) WB Human
HY-P83046A Factor D Antibody (YA2791)(PBS only) WB Human

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