CFHR3 - complement factor H related 3 Gene

Also Known as FHR3; HLF4; CFHL3; FHR-3; DOWN16

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10878

About CFHR3

Cytogenetic location: 1q31.3 Genomic coordinates (GRCh38): 1:196,774,840-196,795,407 (from NCBI)

This gene has 5 transcripts (splice variants), 19 orthologues, 39 paralogues and is associated with 4 phenotypes. Restricted expression toward liver (RPKM 41.2).

Summary

The protein encoded by this gene is a secreted protein, which belongs to the complement factor H-related protein family. It binds to heparin, and may be involved in complement regulation. Mutations in this gene are associated with decreased risk of age-related macular degeneration, and with an increased risk of atypical hemolytic-uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

CFHR3 Products (2)

mRNA	Protein	Name
NM_001166624.2	NP_001160096.1	complement factor H-related protein 3 isoform 2 precursor
NM_021023.6	NP_066303.2	complement factor H-related protein 3 isoform 1 precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20042240	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CFHR3 Protein Structure

Sushi

0
100
200
300
330 a.a.

Protein Preferred Names	Protein Names
complement factor H-related protein 3	H factor-like 4

Recombinant CFHR3 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72691	CFHR3 Protein, Human (HEK293, His)	Q02985-1 (Q19-E330)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
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
Macular Degeneration, Age-Related, 1	Macular Degeneration Age-Related Macular Degeneration Macular Degeneration, Age-Related Age Related Macular Degeneration Age Related Macular Degeneration 1 ARMD1 Senile Macular Degeneration Maculopathy, Age-Related, 1 Macular Degeneration, Age-Related, Reduced Risk Of Age Related Maculopathy 1 Age Related Maculopathies Age Related Maculopathy Senile Macular Retinal Degeneration Macular Degeneration Of Retina Age-Related Maculopathy Amd Armd Age-Related Maculopathy, Susceptibility To Maculopathy Age-Related Macular Degeneration, Age-Related, 1, Susceptibility To Maculopathy, Age-Related Macular Degeneration, Age-Related, Type 1 Macular Degeneration, Age-Related, 2
C3 Glomerulopathy	C3 Glomerulonephritis C3g Non-Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis Glomerulonephritis With Dominant C3 Ddd Ddd/Mpgnii Dense Deposit Disease Membranoproliferative Glomerulonephritis Type Ii Non-Ig-Mediated Mpgn Non-Ig-Mediated Membranoproliferative Glomerulonephritis Non-Immunoglobulin-Mediated Mpgn Membranoproliferative Glomerulonephritis, Type Ii
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome Haemolytic-Uraemic Syndrome Hus Acute Renal Failure, Thrombocytopenia, And Microangiopathic Hemolytic Anemia Associated With Distorted Erythrocytes Typical Haemolytic Uraemic Syndrome Gasser Syndrome Hus - [Haemolytic Uraemic Syndrome]
Complement Deficiency	Complement Deficiency Disease Hereditary Complement Deficiency Diseases
Exudative Glomerulonephritis
End Stage Renal Disease	End Stage Renal Failure End-Stage Kidney Disease Kidney Failure, Chronic Chronic Kidney Disease Stage 5
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	MCPH2 Primary Autosomal Recessive Microcephaly 2 With Or Without Cortical Malformations Microcephaly, Primary Autosomal Recessive, 2
Membranoproliferative Glomerulonephritis	Mesangiocapillary Glomerulonephritis Dense Deposit Disease Membranoproliferative Glomerulonephritis Type 2 Primary Membranoproliferative Glomerulonephritis Mesangiocapillary Glomerulonephritis, Type Ii Glomerulonephritis, Membranoproliferative Chronic Glomerulonephritis, Lobular Lobular Glomerulonephritis Ddd Glomerulonephritis Membranoproliferative Type 2 Mpgn 2 Membranoproliferative Glomerulonephritis Type Ii Mesangiocapillary Glomerulonephritis Type 2 Mpgn Primary Mpgn Glomerulonephritis Membranoproliferative Membranoproliferative Glomerulonephritis, Type Ii
Hemolytic Anemia	Anemia, Hemolytic Anemia Hemolytic Anaemia Due To Other Disorders Of Glutathione Metabolism Chronic Non Spherocytic Anaemia G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia Favism Anaemia Haemolytic Anaemia Due Tog6pd Deficiency Favism Pentose Phosphate Pathway Disorder Anaemia Anaemia Due To Pentose Phosphate Pathway Defect
Degeneration Of Macula And Posterior Pole	Degeneration Of Macula And Posterior Pole Of Retina Degeneration Of Macula Or Posterior Pole Macular Degeneration Nos Degenerative Disorder Of Macula Drusen Macular Degeneration Posterior Pole Macular Degeneration Of Eye Macular Eye Degeneration Macular Degeneration Of Retina, Unspecified Pseudohole Degeneration Of Macula Of Retina
Malignant Hypertension	Hypertension, Malignant Hypertension Malignant
Kidney Cortex Necrosis	Renal Cortical Necrosis
Thrombocytopenia	Low Platelet Count Low Platelets Decreased Platelets Platelet Dysfunction Nos
Iga Glomerulonephritis	Iga Nephropathy Glomerulonephritis, Iga Berger'S Iga Or Igg Nephropathy Focal Glomerulonephritis Primary Iga Nephropathy Segmental Glomerulonephritis Berger Disease Berger'S Disease Igan Nephritis, Iga Type Nephropathy Iga Glomerulonephritis Focal Iga Nephropathy, Susceptibility To Primary Immunoglobulin A Nephropathy
Methylmalonic Aciduria And Homocystinuria, Cblc Type	MAHCC Vitamin B12 Metabolic Defect With Combined Deficiency Of Methylmalonyl-Coa Mutase And Homocysteine:Methyltetrahydrofolate Methyltransferase Methylmalonic Aciduria And Homocystinuria, Cblc Type, Digenic Methylmalonic Aciduria And Homocystinuria Type Cblc Cobalamin C Disease Methylmalonic Acidemia With Homocystinuria Cblc Methylmalonic Acidemia And Homocystinuria, Cblc Type Methylmalonic Aciduria And Homocystinuria, Vitamin B12-Responsive Cobalamin C Deficiency Methylmalonic Acidemia With Homocystinuria, Type Cblc Cblc Defect Cobalamin C Defect Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblc Methylmalonic Aciduria With Homocystinuria, Type Cblc Methylmalonic Acidemia And Homocystinuria Cblc Type Methylmalonic Aciduria And Homocystinuria Vitamin B12-Responsive Aciduria, Methylmalonic, And Homocystinuria, Cblc Type Methylmalonic Acidemia With Homocystinuria
Methylmalonic Acidemia	Methylmalonic Aciduria Mma Acidemia, Methylmalonic Isolated Methylmalonic Acidemia

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02564	CFHR3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19179	Cfhr3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CFHR3	MGD	MGI:3611575