CFHR2 (complement factor H related 2)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3080
Gene name Complement factor H related 2
Gene symbol CFHR2
Synonyms (NCBI Gene)
CFHL2FHR2HFL3
Chromosome 1
Chromosome location 1q31.3
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 de
miRNA miRNA information provided by mirtarbase database.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT017504 hsa-miR-335-5p Microarray 18185580
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (13)
GO ID Ontology Definition Evidence Reference
GO:0001851 Function Complement component C3b binding IBA
GO:0005515 Function Protein binding IPI 23487775, 23728178, 24260121, 31273197, 33961781
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
GO:0005615 Component Extracellular space IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600889 4890 ENSG00000080910
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P36980
Protein name Complement factor H-related protein 2 (FHR-2) (DDESK59) (H factor-like 3) (H factor-like protein 2)
Protein function Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH. Can associate with lipoproteins and may play a role in lipid metab
PDB 3ZD1 , 5EA0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00084 Sushi 23 → 83 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 87 → 140 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 149 → 203 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 207 → 267 Sushi repeat (SCR repeat) Domain
Tissue specificity TISSUE SPECIFICITY: Expressed by the liver and secreted in plasma.
Sequence
Sequence length 270
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Complement and coagulation cascades   Regulation of Complement cascade
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Atypical hemolytic-uremic syndrome Benign; Likely benign rs79351096, rs61746417, rs41310132, rs144096230 RCV002294697
RCV002294698
RCV002294701
RCV002294720
High myopia Uncertain significance rs111370744 RCV000785700
Kidney disorder Benign; Likely benign rs145405649 RCV002294395
Non-immunoglobulin-mediated membranoproliferative glomerulonephritis Benign; Likely benign rs41257904 RCV003994177
Show/Hide Text Mining Associations (21)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Atrophy Associate 37020564
Atypical Hemolytic Uremic Syndrome Associate 36451836, 36793547
Blood Coagulation Disorders Associate 27886187
Calcinosis Associate 35398599
Complement Factor H Deficiency Associate 26432903, 27490940
COVID 19 Associate 36330526
Fibrosis Associate 33091234, 37020564
Geographic Atrophy Associate 22558131
Glomerulonephritis Associate 37020564
Glomerulonephritis IGA Associate 25205734, 37020564