Tbio CFH Complement factor H

Protein Summary

Description

Factor H functions as a cofactor in the inactivation of C3b by factor I and also increases the rate of dissociation of the C3bBb complex (C3 convertase) and the (C3b)NBB complex (C5 convertase) in the alternative complement pathway. This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]

Uniprot Accession IDs

• P08603
• A5PL14
• P78435
• Q14570
• Q2TAZ5
• Q38G77
• Q5TFM3
• Q8N708
• Q9NU86

Gene Name

• CFH

Ensembl ID

• ENST00000367429
• ENSP00000356399
• ENSG00000000971

Symbol

• HF
• HF1
• HF2
• FH
• HF
• HF1
• HF2
• HUS
• FHL1
• AHUS1
• AMBP1
• ARMD4
• ARMS1
• CFHL3

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological term	1
co-expressed gene	0.99
gene perturbation	0.96
disease	0.89
phenotype	0.82

Related Tools

Target Illumination GWAS Analytics (TIGA)

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1685.49   (req: < 5)

Gene RIFs: 595   (req: <= 3)

Antibodies: 855   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1685.49   (req: >= 5)

Gene RIFs: 595   (req: > 3)

Antibodies: 855   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

GWAS Traits (15)

• Explore on Target Illumination GWAS Analytics (TIGA)

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GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
age-related macular degeneration	EFO_0001365	14	15	0	2.4	100
wet macular degeneration	EFO_0004683	4	7	0	2.4	99.4
atrophic macular degeneration	EFO_1001492	2	5	0	2.6	97.2
c3d:C3 ratio	EFO_0008543	1	1	1		93.3
protein binding measurement	EFO_0010742	1	1	0	4253	93

• Explore on Target Illumination GWAS Analytics (TIGA)

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
age-related macular degeneration	EFO_0001365	0	2.4	100
wet macular degeneration	EFO_0004683	0	2.4	99.4
atrophic macular degeneration	EFO_1001492	0	2.6	97.2
c3d:C3 ratio	EFO_0008543	1		93.3
protein binding measurement	EFO_0010742	0	4253	93

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Orthologs (9)

1 – 5 of 9

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	complement factor H	VGNC:1214	457601
Mouse	complement component factor h	MGI:88385	12628
Rat	complement factor H	RGD:620428	155012
Dog	complement factor H		478952
Horse	complement factor H		100051358

Species	Name	OMA	EggNOG	Inparanoid
Chimp	complement factor H
Mouse	complement component factor h
Rat	complement factor H
Dog	complement factor H
Horse	complement factor H

Protein Structure (45 Structures, 1 AlphaFold Model)

Representation

  axes   backbone   ball+stick   cartoon   rocket   rope   spacefill

Color Scheme

  target   atomindex   bfactor   chainname   electrostatic   element   hydrophobicity   resname   sstruc

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-P08603-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 5 of 45

PDB Structure Id	Ligand	Method	Resolution (Å)	Residues	Fraction of Total Protein	Pub Year	Title

PDB Structure Id	Fraction of Total Protein	Resolution	Pub Year

Pathways (170)

Reactome (4)

KEGG (2)

WikiPathways (164)

Complement cascade (R-HSA-166658)

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Find Similar Targets

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Complement cascade	133 targets	R-HSA-166658
Reactome	Immune System	2246 targets	R-HSA-168256
Reactome	Innate Immune System	1188 targets	R-HSA-168249
Reactome	Regulation of Complement cascade	122 targets	R-HSA-977606

Name	Explore in Pharos	Explore in Source
Complement cascade	133 targets	R-HSA-166658
Immune System	2246 targets	R-HSA-168256
Innate Immune System	1188 targets	R-HSA-168249
Regulation of Complement cascade	122 targets	R-HSA-977606

Gene Ontology Terms (10)

Functions (2)

Components (4)

Processes (4)

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Items per page:

10

1 – 2 of 2

GO Term	Evidence	Assigned by
heparan sulfate proteoglycan binding	Inferred from Direct Assay (IDA)	BHF-UCL
heparin binding	Inferred from Direct Assay (IDA)	BHF-UCL

Protein-Protein Interactions (109)

Explore Interacting Targets

1 – 10 of 109

• See Interactions on String-DB

CFHR3

Tbio

Novelty: 0.01779009

p_int: 0.99551977

p_ni: 4.07e-7

p_wrong: 0.004479823

Score: 0.966

Data Source: BioPlex,STRINGDB

KLHL18

Tdark

Novelty: 0.52915213

p_int: 0.979446207

p_ni: 0.020000177

p_wrong: 0.000553616

Score: 0.193

Data Source: BioPlex,STRINGDB

MUT

Tbio

Family: Enzyme

Novelty: 0.00074807

p_int: 0.968147111

p_ni: 0.031852889

Score: 0.623

Data Source: BioPlex,STRINGDB

CFI

Tbio

Novelty: 0.00271423

Score: 0.999

Data Source: Reactome,STRINGDB

C3

Tbio

Novelty: 0.00019115

Score: 0.999

Data Source: Reactome,STRINGDB

CFHR1

Tbio

Novelty: 0.00676665

Score: 0.971

Data Source: STRINGDB

CFHR2

Tbio

Novelty: 0.05323507

Score: 0.948

Data Source: STRINGDB

CFB

Tchem

Novelty: 0.00102672

Score: 0.946

Data Source: Reactome,STRINGDB

ARMS2

Tbio

Novelty: 0.00455168

Score: 0.922

Data Source: STRINGDB

CRP

Tbio

Novelty: 0.00001517

Score: 0.869

Data Source: STRINGDB

Publication Statistics

PubMed Score  1685.49

PubMed score by year

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PubTator Score  1744.96

PubTator score by year

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Amino Acid Sequence

Residue Counts

Protein Sequence

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UniProt Keyword Find Similar Targets

3D-structure
Age-related macular degeneration
Alternative splicing
Complement alternate pathway
Complete proteome
Direct protein sequencing
Disease mutation
Disulfide bond
Glycoprotein
Hemolytic uremic syndrome

GWAS Trait Find Similar Targets

age-related macular degeneration
atrophic macular degeneration
c3d:C3 ratio
choroidal thickness measurement
chronic central serous retinopathy
complement factor H measurement
disease progression measurement
IGA glomerulonephritis
kidney disease
matrix metalloproteinase 8 measurement

MGI Phenotype Find Similar Targets

cardiovascular system phenotype
hematopoietic system phenotype
homeostasis/metabolism phenotype
immune system phenotype
mortality/aging
nervous system phenotype
pigmentation phenotype
renal/urinary system phenotype
vision/eye phenotype