CFHR3 (complement factor H related 3)

Gene

• Entrez ID: 10878
• Gene name: Complement factor H related 3
• Gene symbol: CFHR3
• Synonyms (NCBI Gene): CFHL3, DOWN16, FHR-3, FHR3, HLF4
• Chromosome: 1
• Chromosome location: 1q31.3
• 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-re

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs745503234	G>A,T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT708793	hsa-miR-7151-5p	HITS-CLIP	19536157
MIRT708792	hsa-miR-181a-3p	HITS-CLIP	19536157
MIRT708791	hsa-miR-29a-5p	HITS-CLIP	19536157
MIRT708790	hsa-miR-5007-3p	HITS-CLIP	19536157
MIRT708789	hsa-miR-587	HITS-CLIP	19536157
MIRT708793	hsa-miR-7151-5p	HITS-CLIP	19536157
MIRT708792	hsa-miR-181a-3p	HITS-CLIP	19536157
MIRT708791	hsa-miR-29a-5p	HITS-CLIP	19536157
MIRT708790	hsa-miR-5007-3p	HITS-CLIP	19536157
MIRT708789	hsa-miR-587	HITS-CLIP	19536157
MIRT444488	hsa-miR-5571-5p	PAR-CLIP	22100165
MIRT444487	hsa-miR-5585-3p	PAR-CLIP	22100165
MIRT444486	hsa-miR-576-5p	PAR-CLIP	22100165
MIRT708793	hsa-miR-7151-5p	HITS-CLIP	19536157
MIRT708792	hsa-miR-181a-3p	HITS-CLIP	19536157
MIRT708791	hsa-miR-29a-5p	HITS-CLIP	19536157
MIRT708790	hsa-miR-5007-3p	HITS-CLIP	19536157
MIRT708789	hsa-miR-587	HITS-CLIP	19536157
MIRT708793	hsa-miR-7151-5p	HITS-CLIP	19536157
MIRT708792	hsa-miR-181a-3p	HITS-CLIP	19536157
MIRT708791	hsa-miR-29a-5p	HITS-CLIP	19536157
MIRT708790	hsa-miR-5007-3p	HITS-CLIP	19536157
MIRT708789	hsa-miR-587	HITS-CLIP	19536157
MIRT444488	hsa-miR-5571-5p	PAR-CLIP	22100165
MIRT444487	hsa-miR-5585-3p	PAR-CLIP	22100165
MIRT444486	hsa-miR-576-5p	PAR-CLIP	22100165
MIRT887406	hsa-miR-2909	CLIP-seq
MIRT887407	hsa-miR-3171	CLIP-seq
MIRT887408	hsa-miR-3190	CLIP-seq
MIRT887409	hsa-miR-3672	CLIP-seq
MIRT887410	hsa-miR-433	CLIP-seq
MIRT887411	hsa-miR-450b-5p	CLIP-seq
MIRT887412	hsa-miR-4520a-3p	CLIP-seq
MIRT887413	hsa-miR-4520b-3p	CLIP-seq
MIRT887414	hsa-miR-4786-5p	CLIP-seq
MIRT887415	hsa-miR-769-5p	CLIP-seq
MIRT887409	hsa-miR-3672	CLIP-seq
MIRT887411	hsa-miR-450b-5p	CLIP-seq
MIRT887414	hsa-miR-4786-5p	CLIP-seq
MIRT887415	hsa-miR-769-5p	CLIP-seq
MIRT887409	hsa-miR-3672	CLIP-seq
MIRT887411	hsa-miR-450b-5p	CLIP-seq
MIRT887414	hsa-miR-4786-5p	CLIP-seq
MIRT887415	hsa-miR-769-5p	CLIP-seq
MIRT887409	hsa-miR-3672	CLIP-seq
MIRT887411	hsa-miR-450b-5p	CLIP-seq
MIRT887414	hsa-miR-4786-5p	CLIP-seq
MIRT887415	hsa-miR-769-5p	CLIP-seq
MIRT2446913	hsa-miR-142-5p	CLIP-seq
MIRT2446914	hsa-miR-548a-5p	CLIP-seq
MIRT2446915	hsa-miR-548ab	CLIP-seq
MIRT2446916	hsa-miR-548ak	CLIP-seq
MIRT2446917	hsa-miR-548b-5p	CLIP-seq
MIRT2446918	hsa-miR-548c-5p	CLIP-seq
MIRT2446919	hsa-miR-548d-5p	CLIP-seq
MIRT2446920	hsa-miR-548h	CLIP-seq
MIRT2446921	hsa-miR-548i	CLIP-seq
MIRT2446922	hsa-miR-548j	CLIP-seq
MIRT2446923	hsa-miR-548k	CLIP-seq
MIRT2446924	hsa-miR-548l	CLIP-seq
MIRT2446925	hsa-miR-548w	CLIP-seq
MIRT2446926	hsa-miR-548y	CLIP-seq
MIRT2446927	hsa-miR-559	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001851	Function	Complement component C3b binding	IBA
GO:0005515	Function	Protein binding	IPI	20042240, 28533443
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	TAS	8428964
GO:0006956	Process	Complement activation	IBA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0072562	Component	Blood microparticle	HDA	22516433

Other IDs

• MIM: 605336
• HGNC: 16980
• e!Ensembl: ENSG00000116785

Protein

• UniProt ID: Q02985
• Protein name: Complement factor H-related protein 3 (FHR-3) (DOWN16) (H factor-like protein 3)
• Protein function: Might be involved in complement regulation.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00084	Sushi	23 → 87	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	87 → 140	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	146 → 203	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	210 → 264	Sushi repeat (SCR repeat)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed by the liver and secreted in plasma.
• Sequence:

  MLLLINVILTLWVSCANGQVKPCDFPDIKHGGLFHENMRRPYFPVAVGKYYSYYCDEHFE
  TPSGSYWDYIHCTQNGWSPAVPCLRKCYFPYLENGYNQNYGRKFVQGNSTEVACHPGYGL
  PKAQTTVTCTEKGWSPTPRCIRVRTCSKSDIEIENGFISESSSIYILNKEIQYKCKPGYA
  TADGNSSGSITCLQNGWSAQPICINSSEKCGPPPPISNGDTTSFLLKVYVPQSRVEYQCQ
  PYYELQGSNYVTCSNGEWSEPPRCIHPCIITEENMNKNNIKLKGRSDRKYYAKTGDTIEF
  MCKLGYNANTSILSFQAVCREGIVEYPRCE

• Sequence length: 330

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
Age related macular degeneration 1	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATYPICAL HEMOLYTIC UREMIC SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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
CFHR3-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemolytic uremic syndrome, atypical, susceptibility to, 1	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION, AGE-RELATED, 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ 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	16998489, 18084039, 19388158, 19553609, 19745068, 19961953, 20523265, 20711704, 20843825, 21677662, 21850184, 22558131, 23244519, 23873044, 28343170, 31524260		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	LHGDN	18084039		★☆☆☆☆ 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
Age related macular degeneration	Age-related macular degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	28729648	Associate	★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	17367211, 18006700, 18089972, 19531976, 19745068, 21677636, 25917093, 26163426, 26490391, 28905254, 29485195, 29740447, 31524260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	17367211, 18006700, 19745068, 22410797, 27064621, 29740447, 31118930, 35617302, 36091034, 36591301, 36793547, 37147581	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical hemolytic uremic syndrome with anti-factor H antibodies	Hemolytic Uremic Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	37031449	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	31524260		★☆☆☆☆ Found in Text Mining only
C3 glomerulopathy	C3 Glomerulopathy	BEFREE	22626820		★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	35398599	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31524260, 32148377, 34813686, 35549979, 35852862, 36994451, 37248957	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	37147581	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	37773863	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic kidney disease stage 5	Kidney Disease	BEFREE	20865639		★☆☆☆☆ Found in Text Mining only
Complement Component 3 Deficiency Autosomal Recessive	Complement component deficiency	Pubtator	28729648	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	17367211	Inhibit	★☆☆☆☆ Found in Text Mining only
Complement Factor H Deficiency	Complement component deficiency	Pubtator	28729648	Associate	★☆☆☆☆ Found in Text Mining only
Complement Factor H Deficiency	Complement component deficiency	Pubtator	31118930	Stimulate	★☆☆☆☆ Found in Text Mining only
Drusen	Drusen	BEFREE	20523265		★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	37147581	Associate	★☆☆☆☆ Found in Text Mining only
Geographic Atrophy	Geographic Atrophy	BEFREE	22558131		★☆☆☆☆ Found in Text Mining only
Geographic Atrophy	Geographic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	21399633, 22626820, 23613724, 25205734, 28673452, 37651123	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	26940089, 28637589, 29114042	Inhibit	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis, Membranoproliferative	Glomerulonephritis	BEFREE	19640589		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	23613724	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	21677662		★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	18006700, 24005975, 29740447, 31524260, 33777036, 34724668	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	LHGDN	17367211		★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	19388158, 29440240		★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	37147581	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	22848687	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	22848687, 29114042		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	35549979	Inhibit	★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	CTD_human_DG	21399633		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	22626820, 25205734, 26940089, 28637589, 28673452, 29114042, 30838755		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	22626820, 28729648, 31524260	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	BEFREE	31524260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Chronic	Kidney Failure	BEFREE	20865639		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31524260, 31709629		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	21637784, 23613724, 30975435, 35398599	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	21637784, 30975435		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	30975435		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	30975435	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	27528699		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	17438673, 19745068, 22558131, 23873044, 31524260, 32034129, 34563268, 34819935	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	21850184, 32321835, 33273512	Inhibit	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	34260947, 34260948	Stimulate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration, Age-Related, 1	Age-related macular degeneration	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular Degeneration, Age-Related, 1	Age-related macular degeneration	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21677662		★☆☆☆☆ Found in Text Mining only
Mesangial sclerosis diffuse	Diffuse mesangial sclerosis	Pubtator	29114042	Associate	★☆☆☆☆ Found in Text Mining only
Microangiopathic hemolytic anemia	Microangiopathic hemolytic anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephritis Interstitial	Interstitial nephritis	Pubtator	26940089	Inhibit	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	34819935	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21677662		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	30975435	Associate	★☆☆☆☆ Found in Text Mining only
Purpura, Thrombotic Thrombocytopenic	Thrombotic thrombocytopenic purpura	BEFREE	19640589		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	21593744	Associate	★☆☆☆☆ Found in Text Mining only
Thrombotic Microangiopathies	Thrombotic Microangiopathies	BEFREE	28991129		★☆☆☆☆ Found in Text Mining only