CFHR2 (complement factor H related 2)

Gene

• Entrez ID: 3080
• Gene name: Complement factor H related 2
• Gene symbol: CFHR2
• Synonyms (NCBI Gene): CFHL2, FHR2, HFL3
• 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

miRTarBase ID	miRNA	Experiments	Reference
MIRT017504	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

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
GO:0006956	Process	Complement activation	IBA
GO:0032091	Process	Negative regulation of protein binding	IMP	23487775
GO:0032991	Component	Protein-containing complex	IDA	23487775
GO:0032991	Component	Protein-containing complex	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	23487775, 23728178, 24260121
GO:0051838	Process	Cytolysis by host of symbiont cells	IEA
GO:0051838	Process	Cytolysis by host of symbiont cells	IMP	23487775

Other IDs

• MIM: 600889
• HGNC: 4890
• e!Ensembl: ENSG00000080910

Protein

• UniProt ID: 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:

  MWLLVSVILISRISSVGGEAMFCDFPKINHGILYDEEKYKPFSQVPTGEVFYYSCEYNFV
  SPSKSFWTRITCAEEGWSPTPKCLRLCFFPFVENGHSESSGQTHLEGDTVQIICNTGYRL
  QNNENNISCVERGWSTPPKCRSTISAEKCGPPPPIDNGDITSFLLSVYAPGSSVEYQCQN
  LYQLEGNNQITCRNGQWSEPPKCLDPCVISQEIMEKYNIKLKWTNQQKLYSRTGDIVEFV
  CKSGYHPTKSHSFRAMCQNGKLVYPSCEEK

• Sequence length: 270

Pathways

KEGG:

Complement and coagulation cascades

Reactome:

Regulation of Complement cascade

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Atypical hemolytic-uremic syndrome	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
C3 GLOMERULONEPHRITIS	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
High myopia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-immunoglobulin-mediated membranoproliferative glomerulonephritis	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Age related macular degeneration	Age-related macular degeneration	BEFREE	18541031		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASDB_DG	23326517		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	27306586		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	37020564	Associate	★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	36451836, 36793547	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	27886187	Associate	★☆☆☆☆ Found in Text Mining only
C3 glomerulopathy	C3 Glomerulopathy	GENOMICS_ENGLAND_DG	24334459, 27458560		★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	35398599	Associate	★☆☆☆☆ Found in Text Mining only
Complement deficiency disease	Complement Component Deficiency	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Complement Factor H Deficiency	Complement component deficiency	Pubtator	26432903, 27490940	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	30922315		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28851702		★☆☆☆☆ Found in Text Mining only
Drusen	Drusen	BEFREE	30404605		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	37020564	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	25205734, 37020564	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	18541031		★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	36451836	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	27886187	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	35398599	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	18541031, 22558131, 30404605, 32034129, 34260947, 34260948	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	9754648		★☆☆☆☆ Found in Text Mining only
Malignant Testicular Germ Cell Tumor	Malignant testicular germ cell tumor	BEFREE	9754648		★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	40591022	Stimulate	★☆☆☆☆ Found in Text Mining only