CFHR4 (complement factor H related 4)

Gene

• Entrez ID: 10877
• Gene name: Complement factor H related 4
• Gene symbol: CFHR4
• Synonyms (NCBI Gene): CFHL4, FHR-4, FHR4
• 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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 605337
• HGNC: 16979
• e!Ensembl: ENSG00000134365

Protein

• UniProt ID: 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

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
ATROPHIC MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical hemolytic-uremic syndrome	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney disorder	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WET MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ 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, 29398083		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASDB_DG	20861866, 21197116, 22125219, 23326517, 23577725		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GENOMICS_ENGLAND_DG	28822440		★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	30889567		★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	31118930, 36793547	Associate	★☆☆☆☆ Found in Text Mining only
Atypical hemolytic uremic syndrome with anti-factor H antibodies	Hemolytic Uremic Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	26849056	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	35398599	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35812416	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35812416	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	38282028	Associate	★☆☆☆☆ Found in Text Mining only
Choroidal Neovascularization	Choroidal neovascularization	Pubtator	23523162	Associate	★☆☆☆☆ Found in Text Mining only
Complement deficiency disease	Complement Component Deficiency	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	29288229	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	37037945	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	25205734	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	18541031		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	21637784, 30485348, 35398599, 35964089	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	21637784		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	18541031, 22558131, 29398083, 34260948	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	32034129	Stimulate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	36849497	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary edema of mountaineers	Pulmonary edema	Pubtator	28242600	Associate	★☆☆☆☆ Found in Text Mining only