CFHR4 - complement factor H related 4 Gene

Homo sapiens

Also known as FHR4; CFHL4; FHR-4

Gene ID: 10877 | Gene type: protein coding

About CFHR4

Cytogenetic location: 1q31.3 Genomic coordinates (GRCh38): 1:196,888,052-196,918,633 (from NCBI)

This gene has 7 transcripts (splice variants), 173 orthologues, 39 paralogues and is associated with 1 phenotype. Restricted expression toward liver (RPKM 22.1).

Summary

This gene is a member of the complement Factor H (CFH) gene family, and encodes one of the 5 CFH-related (CFHR) proteins. These 5 genes are closely linked to the CFH gene on chromosome 1q31-q32. The CFHRs are secreted plasma proteins synthesized primarily by the hepatocytes, and composed of highly-related short consensus repeats (SCRs). This protein enhances the cofactor activity of CFH, and is involved in complement regulation. It can associate with lipoproteins and may play a role in lipid metabolism. Alternatively spliced transcript variants encoding different isoforms (varying in the number of SCRs) have been described for this gene. [provided by RefSeq, Jan 2011]

CFHR4 Products(3)

mRNA	Protein	Name
NM_001201550.3	NP_001188479.1	complement factor H-related protein 4 isoform 1 precursor
NM_001201551.2	NP_001188480.1	complement factor H-related protein 4 isoform 2 precursor
NM_006684.5	NP_006675.2	complement factor H-related protein 4 isoform 3 precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19084272	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

CFHR4 Protein Structure

Sushi

0
100
200
300
400
500
577 a.a.

Protein Preferred Names

Protein Names

complement factor H-related protein 4

Recombinant CFHR4 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72690	CFHR4 Protein, Human (HEK293, His)	Q92496-1 (E20-E578)	≥95%

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

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]

Kidney Cortex Necrosis

Renal Cortical Necrosis

Complement Deficiency

Complement Deficiency Disease

Hereditary Complement Deficiency Diseases

Angioedema, Hereditary, 1

Hereditary Angioedema Type I	Hereditary Angioneurotic Edema
Hane	C1 Esterase Inhibitor Deficiency
Angioedema, Hereditary, 1 And 2	HAE1
Angioneurotic Edema, Hereditary	Angioedema, Hereditary, Type I
Hereditary Angioedema Type 2	Hae 2
Hae-Ii	Hereditary Angioneurotic Edema Type 2
Angioedema, Hereditary	HAE
Angioedema, Hereditary, Types I And Ii	Hereditary Angioedema, Type Ii
Angioedema, Hereditary, Type 1	Angioedemas, Hereditary
Hereditary C1 Esterase Inhibitor Deficiency - Dysfunctional Factor	Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor
Hereditary Angioedema Types I And Ii

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

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

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

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02565	CFHR4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CFHR4	RGD	RGD:1564614
Others	CFHR4	NCBI

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