CFHR2 - complement factor H related 2 Gene
Also Known as FHR2; HFL3; CFHL2
Species: Homo sapiens
About CFHR2
This gene has 12 transcripts (splice variants), 55 orthologues, 39 paralogues and is associated with 1 phenotype. Restricted expression toward liver (RPKM 292.8).
Summary
This gene belongs to a family of complement factor H-related genes (CFHR), which are clustered together with complement Factor H gene on chromosome 1, and are involved in regulation of complement. Mutations in CFHR genes have been associated with dense deposit disease and atypical haemolytic-uraemic syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]
CFHR2 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001312672.1 | NP_001299601.1 | complement factor H-related protein 2 isoform 2 precursor |
| NM_001410924.1 | NP_001397853.1 | complement factor H-related protein 2 isoform 3 precursor |
| NM_005666.4 | NP_005657.1 | complement factor H-related protein 2 isoform 1 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
23487775 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
23487775 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in cytolysis by host of symbiont cells |
IMP
IMP: Inferred from mutant phenotype
|
23487775 | GOA |
| involved in negative regulation of protein binding |
IMP
IMP: Inferred from mutant phenotype
|
23487775 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of protein-containing complex |
IDA
IDA: Inferred from direct assay
|
23487775 | GOA |
CFHR2 Protein Structure
Sushi: Sushi repeat (SCR repeat) (23 - 83)
Sushi: Sushi repeat (SCR repeat) (93 - 140)
Sushi: Sushi repeat (SCR repeat) (149 - 203)
Sushi: Sushi repeat (SCR repeat) (221 - 264)
- 0
- 100
- 200
- 270 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
complement factor H-related protein 2 |
|
CFHR2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
CFHR2 | P36980 | CFHR2 | Homo sapiens | P36980 | 24260121 | |
|
Intra
|
CFHR2 | P36980 | CFHR1 | Homo sapiens | Q03591 | 23728178 | |
|
Intra
|
CFHR2 | P36980 | CFHR2 | Homo sapiens | P36980 | 23728178 | |
|
Intra
|
CFHR2 | P36980 | CFHR1 | Homo sapiens | Q03591 | 33961781 |
Recombinant CFHR2 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P70031 | CFHR2 Protein, Human (HEK293, His) | P36980-1 (E19-K270) | ≥ 95%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| C3 Glomerulopathy |
|
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| Degeneration Of Macula And Posterior Pole |
|
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| Eye Degenerative Disease |
|
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| Kidney Cortex Necrosis |
|
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| Skeletal Tuberculosis |
|
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| Libman-Sacks Endocarditis |
|
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| Tick-Borne Relapsing Fever |
|
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| Acrodermatitis Chronica Atrophicans |
|
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| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
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| Immune-Complex Glomerulonephritis |
|
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| Exudative Glomerulonephritis |
|
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| Kidney Cortex Disease |
|
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| Macular Degeneration, Age-Related, 1 |
|
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| Thoracic Outlet Syndrome |
|
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| Complement Deficiency |
|
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| Complement Component 3 Deficiency |
|
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| Hemolytic-Uremic Syndrome |
|
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| Hypersensitivity Reaction Type Iii Disease |
|
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| Pasteurellosis |
|
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| Relapsing Fever |
|
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| Angioedema, Hereditary, 1 |
|
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| Hepatic Infarction |
|
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| Kuhnt-Junius Degeneration |
|
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| C1 Inhibitor Deficiency |
|
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| Sensory System Disease |
|
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| Sorsby Fundus Dystrophy |
|
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| Membranoproliferative Glomerulonephritis |
|
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| Complement Component 5 Deficiency |
|
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| Hemolytic Uremic Syndrome, Atypical 1 |
|
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| Anterior Uveitis |
|
|
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
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| Hereditary Retinal Dystrophy |
|
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| Doyne Honeycomb Retinal Dystrophy |
|
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| Malignant Hypertension |
|
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| Autoimmune Glomerulonephritis |
|
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| Geographic Tongue |
|
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| Henoch-Schoenlein Purpura |
|
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| Hypersensitivity Vasculitis |
|
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| Amebiasis |
|
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| Primary Bacterial Infectious Disease |
|
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| Meningococcal Meningitis |
|
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| Atrophic Glossitis |
|
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| Crescentic Glomerulonephritis |
|
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| Acute Proliferative Glomerulonephritis |
|
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| Retinal Drusen |
|
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| Blood Coagulation Disease |
|
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| Retinal Disease |
|
|
| Acute Poststreptococcal Glomerulonephritis |
|
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| Proliferative Glomerulonephritis |
|
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| Iga Glomerulonephritis |
|
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| Infective Endocarditis |
|
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| Acrodermatitis |
|
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| Autoimmune Disease Of Urogenital Tract |
|
|
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
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| Rapidly Progressive Glomerulonephritis |
|
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| Thrombotic Thrombocytopenic Purpura |
|
|
| Thalassemia Minor |
|
|
| Epidermodysplasia Verruciformis 1 |
|
|
| Urinary System Disease |
|
|
| Eastern Equine Encephalitis |
|
|
| Multicentric Castleman Disease |
|
|
| Panuveitis |
|
|
| Western Equine Encephalitis |
|
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| Anuria |
|
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| Berylliosis |
|
|
| Immune System Disease |
|
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| Autoimmune Disease Of Musculoskeletal System |
|
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| C Syndrome |
|
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| Heavy Chain Disease |
|
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| Lyme Disease |
|
|
| Substance-Induced Psychosis |
|
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| Blood Platelet Disease |
|
|
| Membranous Nephropathy |
|
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| Mesangial Proliferative Glomerulonephritis |
|
|
| Methylmalonic Acidemia |
|
|
| Paroxysmal Nocturnal Hemoglobinuria |
|
|
| Severe Pre-Eclampsia |
|
|
| Autoimmune Disease Of Cardiovascular System |
|
|
| Venezuelan Equine Encephalitis |
|
|
| Afibrinogenemia, Congenital |
|
|
| Placental Abruption |
|
|
| Monoclonal Gammopathy Of Uncertain Significance |
|
|
| Pyelitis |
|
|
| Extrapulmonary Tuberculosis |
|
|
| Primary Autosomal Recessive Microcephaly |
|
|
| Hereditary Angioedema |
|
|
| Goodpasture Syndrome |
|
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| Parasitic Protozoa Infectious Disease |
|
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| Disease By Infectious Agent |
|
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| Endocardium Disease |
|
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| Organic Acidemia |
|
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| Urinary Tract Infection |
|
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| Eye Disease |
|
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| Bacterial Infectious Disease |
|
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| Primary Microcephaly |
|
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| Hemolytic Anemia |
|
|
| Chronic Kidney Disease |
|
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| Collagen Disease |
|
|
| Trypanosomiasis |
|
|
| Immune Deficiency Disease |
|
|
| Arteries, Anomalies Of |
|
|
| Cakut |
|
|
| Retinal Degeneration |
|
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| Deficiency Anemia |
|
|
| Systemic Lupus Erythematosus |
|
|
| Bilirubin Metabolic Disorder |
|
|
| Focal Segmental Glomerulosclerosis |
|
|
| Nervous System Disease |
|
|
| Cervix Carcinoma |
|
|
| Connective Tissue Disease |
|
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| Fundus Dystrophy |
|
|
| Congenital Nervous System Abnormality |
|