Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10878
Gene name Gene Name - the full gene name approved by the HGNC.	Complement factor H related 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CFHR3
Synonyms (NCBI Gene) Gene synonyms aliases	CFHL3, DOWN16, FHR-3, FHR3, HLF4
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q31.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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

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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

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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

MIM	HGNC	e!Ensembl
605336	16980	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

Interactions

View interactions

	KEGG		Reactome
	Complement and coagulation cascades		Regulation of Complement cascade

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Age-related macular degeneration	Age related macular degeneration 1	N/A	N/A	ClinVar
Hemolytic Uremic Syndrome	Atypical hemolytic-uremic syndrome, hemolytic uremic syndrome, atypical, susceptibility to, 1	N/A	N/A	ClinVar, GenCC

Show/Hide Text Mining Associations (44)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Ataxia Telangiectasia	Associate	28729648
Atypical Hemolytic Uremic Syndrome	Associate	17367211, 18006700, 19745068, 22410797, 27064621, 29740447, 31118930, 35617302, 36091034, 36591301, 36793547, 37147581
Autism Spectrum Disorder	Associate	37031449
Calcinosis	Associate	35398599
Carcinoma Hepatocellular	Associate	31524260, 32148377, 34813686, 35549979, 35852862, 36994451, 37248957
Cardiomyopathies	Associate	37147581
Cholangiocarcinoma	Associate	37773863
Complement Component 3 Deficiency Autosomal Recessive	Associate	28729648
Complement Factor H Deficiency	Inhibit	17367211
Complement Factor H Deficiency	Associate	28729648
Complement Factor H Deficiency	Stimulate	31118930
Disease	Associate	35398599
Fibrosis	Associate	33091234
Gastrointestinal Diseases	Associate	37147581
Geographic Atrophy	Associate	22558131
Glomerulonephritis IGA	Associate	21399633, 22626820, 23613724, 25205734, 28673452, 37651123
Glomerulonephritis IGA	Inhibit	26940089, 28637589, 29114042
Glomerulonephritis Membranoproliferative	Associate	28729648
Glycogen Storage Disease Type II	Associate	23613724
Hemolytic Uremic Syndrome	Associate	18006700, 24005975, 29740447, 31524260, 33777036, 34724668
Hemorrhage	Associate	37147581
Hypertension	Associate	22848687
Hypoxia	Inhibit	35549979
Immunologic Deficiency Syndromes	Associate	24005975, 25205734, 34724668, 34819935, 37651123
Inflammation	Stimulate	34819935
Kidney Diseases	Associate	22626820, 28729648, 31524260
Lupus Erythematosus Systemic	Associate	21637784, 23613724, 30975435, 35398599
Lupus Nephritis	Stimulate	30975435
Macular Degeneration	Associate	17438673, 19745068, 22558131, 23873044, 31524260, 32034129, 34563268, 34819935
Macular Degeneration	Inhibit	21850184, 32321835, 33273512
Macular Degeneration	Stimulate	34260947, 34260948
Mesangial sclerosis diffuse	Associate	29114042
Neoplasm Metastasis	Inhibit	35549979, 35852862
Neoplasms	Inhibit	31524260
Neoplasms	Associate	34813686
Nephritis Interstitial	Inhibit	26940089
Neurodegenerative Diseases	Associate	34819935
Pneumococcal Infections	Associate	36070894
Pressure Ulcer	Associate	22848687
Primary Immunodeficiency Diseases	Associate	28729648
Proteinuria	Associate	30975435
Renal Insufficiency	Associate	37147581
Rett Syndrome	Associate	21593744
Thrombotic Microangiopathies	Associate	34648498, 36070894

CFHR3 (complement factor H related 3)