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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10877
Gene name	Complement factor H related 4
Gene symbol	CFHR4
Synonyms (NCBI Gene)	CFHL4FHR-4FHR4
Chromosome	1
Chromosome location	1q31.3
Summary	This gene is a member of the complement factor H (CFH) gene family, and encodes one of the 5 CFH-related (CFHR) proteins. These 5 genes are closely linked to the CFH gene on chromosome 1q31-q32. The CFHRs are secreted plasma proteins synthesized primarily

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miRTarBase ID	miRNA	Experiments	Reference
MIRT738204	hsa-miR-361-5p	HITS-CLIP	33718276
MIRT738206	hsa-miR-338-5p	HITS-CLIP	33718276
MIRT887416	hsa-miR-3672	CLIP-seq
MIRT887417	hsa-miR-450b-5p	CLIP-seq
MIRT887418	hsa-miR-4786-5p	CLIP-seq
MIRT887419	hsa-miR-769-5p	CLIP-seq
MIRT887420	hsa-miR-2909	CLIP-seq
MIRT887421	hsa-miR-3190	CLIP-seq
MIRT887422	hsa-miR-4520a-3p	CLIP-seq
MIRT887423	hsa-miR-4520b-3p	CLIP-seq
MIRT887416	hsa-miR-3672	CLIP-seq
MIRT887417	hsa-miR-450b-5p	CLIP-seq
MIRT887418	hsa-miR-4786-5p	CLIP-seq
MIRT887419	hsa-miR-769-5p	CLIP-seq
MIRT887416	hsa-miR-3672	CLIP-seq
MIRT887417	hsa-miR-450b-5p	CLIP-seq
MIRT887418	hsa-miR-4786-5p	CLIP-seq
MIRT887419	hsa-miR-769-5p	CLIP-seq
MIRT887416	hsa-miR-3672	CLIP-seq
MIRT887417	hsa-miR-450b-5p	CLIP-seq
MIRT887418	hsa-miR-4786-5p	CLIP-seq
MIRT887419	hsa-miR-769-5p	CLIP-seq
MIRT2446928	hsa-miR-142-5p	CLIP-seq
MIRT2446929	hsa-miR-548a-5p	CLIP-seq
MIRT2446930	hsa-miR-548ab	CLIP-seq
MIRT2446931	hsa-miR-548ak	CLIP-seq
MIRT2446932	hsa-miR-548b-5p	CLIP-seq
MIRT2446933	hsa-miR-548c-5p	CLIP-seq
MIRT2446934	hsa-miR-548d-5p	CLIP-seq
MIRT2446935	hsa-miR-548h	CLIP-seq
MIRT2446936	hsa-miR-548i	CLIP-seq
MIRT2446937	hsa-miR-548j	CLIP-seq
MIRT2446938	hsa-miR-548k	CLIP-seq
MIRT2446939	hsa-miR-548l	CLIP-seq
MIRT2446940	hsa-miR-548w	CLIP-seq
MIRT2446941	hsa-miR-548y	CLIP-seq
MIRT2446942	hsa-miR-559	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001851	Function	Complement component C3b binding	IBA
GO:0005319	Function	Lipid transporter activity	TAS	9038172
GO:0005515	Function	Protein binding	IPI	19084272, 20042240, 22518841, 28533443, 32034129
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0006869	Process	Lipid transport	IEA
GO:0006956	Process	Complement activation	IBA

MIM	HGNC	e!Ensembl
605337	16979	ENSG00000134365

Q92496

Protein name

Complement factor H-related protein 4 (FHR-4)

Protein function

Involved in complement regulation. Can associate with lipoproteins and may play a role in lipid metabolism.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00084	Sushi	24 → 88	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	88 → 145	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	149 → 204	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	211 → 265	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	271 → 332	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	334 → 392	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	396 → 451	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	458 → 512	Sushi repeat (SCR repeat)	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed by the liver and secreted in plasma.

Sequence

MLLLINVILTLWVSCANGQEVKPCDFPEIQHGGLYYKSLRRLYFPAAAGQSYSYYCDQNF
VTPSGSYWDYIHCTQDGWSPTVPCLRTCSKSDVEIENGFISESSSIYILNEETQYNCKPG
YATAEGNSSGSITCLQNGWSTQPICIKFCDMPVFENSRAKSNGMWFKLHDTLDYECYDGY
ESSYGNTTDSIVCGEDGWSHLPTCYNSSENCGPPPPISNGDTTSFPQKVYLPWSRVEYQC
QSYYELQGSKYVTCSNGDWSEPPRCISMKPCEFPEIQHGHLYYENTRRPYFPVATGQSYS
YYCDQNFVTPSGSYWDYIHCTQDGWLPTVPCLRTCSKSDIEIENGFISESSSIYILNKEI
QYKCKPGYATADGNSSGSITCLQNGWSAQPICIKFCDMPVFENSRAKSNGMRFKLHDTLD
YECYDGYEISYGNTTGSIVCGEDGWSHFPTCYNSSEKCGPPPPISNGDTTSFLLKVYVPQ
SRVEYQCQSYYELQGSNYVTCSNGEWSEPPRCIHPCIITEENMNKNNIQLKGKSDIKYYA
KTGDTIEFMCKLGYNANTSVLSFQAVCREGIVEYPRCE

Sequence length

578

Interactions

View interactions

	KEGG		Reactome
	Complement and coagulation cascades		Regulation of Complement cascade

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Atypical hemolytic-uremic syndrome	Likely benign; Benign	rs202234955, rs145744152	RCV002294711 RCV002294426
Kidney disorder	Likely benign; Conflicting classifications of pathogenicity	rs138792300, rs200339924	RCV002294486 RCV002294695
Uterine carcinosarcoma	Benign; Likely benign	rs193093149	RCV005922692

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Atypical Hemolytic Uremic Syndrome	Associate	31118930, 36793547
Brain Neoplasms	Associate	26849056
Calcinosis	Associate	35398599
Carcinogenesis	Associate	35812416
Carcinoma Hepatocellular	Inhibit	35812416
Carcinoma Hepatocellular	Associate	38282028
Central Serous Chorioretinopathy	Associate	30073298
Choroidal Neovascularization	Associate	23523162
Disease	Associate	35398599
Drug Hypersensitivity	Associate	29288229
Exanthema	Associate	29288229
Fatty Liver	Associate	37037945
Geographic Atrophy	Associate	22558131
Glomerulonephritis IGA	Associate	25205734
Immunoglobulin G4 Related Disease	Associate	33643292
Immunologic Deficiency Syndromes	Associate	25205734
Lupus Erythematosus Systemic	Associate	21637784, 30485348, 35398599, 35964089
Macular Degeneration	Associate	18541031, 22558131, 29398083, 34260948
Macular Degeneration	Stimulate	32034129
Multiple Myeloma	Associate	36849497
Neoplasms	Associate	31365168, 35812416
Pulmonary edema of mountaineers	Associate	28242600
Retinal Drusen	Associate	32034129
Substance Related Disorders	Associate	31365168
Thrombotic Microangiopathies	Associate	33643292, 36849497

CFHR4 (complement factor H related 4)