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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CFH Gene

protein-coding GIFtS: 70
GCID: GC01P196621

complement factor H

(Previous name: H factor 1 (complement) )
(Previous symbols: HF, HF1, HF2)

Explore 79 diseases affiliated with
CFH via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Complement Factor H¹ ²		CFHL3²
HF1¹ ² ³ ⁵		FH²
HF¹ ² ³		Adrenomedullin Binding Protein²
HF2¹ ² ³		Age-Related Maculopathy Susceptibility 1²
ARMD4¹ ² ⁵		Beta-1-H-Globulin¹
HUS¹ ² ⁵		Beta-1H¹
ARMS1¹ ²		Factor H²
FHL1¹ ²		Factor H-Like 1²
H Factor 1 (Complement)¹ ²		H Factor 2 (Complement)²
AHUS1² ⁵		H Factor 1³
AMBP1²

External Ids:	HGNC: 4883¹	Entrez Gene: 3075²	Ensembl: ENSG00000000971⁷	OMIM: 134370⁵	UniProtKB: P08603³

Export aliases for CFH gene to outside databases

Previous GC identifers: GC01P193352 GC01P194887 GC01P167862

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CFH:

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)

UniProtKB/Swiss-Prot: CFAH_HUMAN, P08603

Function: 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

Gene Wiki entry for CFH (Factor H)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_004487.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CFH gene promoter:
TBP AML1a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CFH promoter sequence

Search SABiosciences Chromatin IP Primers for CFH

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CFH

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q32 Ensembl cytogenetic band: 1q31.3 HGNC cytogenetic band: 1q32

CFH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CFH gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P196621: view genomic region (about GC identifiers)

Start:	196,621,008 bp from pter	End:	196,716,634 bp from pter
Size:	95,627 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CFAH_HUMAN, P08603 (See protein sequence)

Recommended Name: Complement factor H precursor

Size: 1231 amino acids; 139096 Da

Subcellular location: Secreted

Sequence caution: Sequence=CAB41739.1; Type=Frameshift; Positions=341;

6/37 PDB 3D structures from and Proteopedia for CFH (see all 37):

1FHC (3D)

1HAQ (3D)

1HCC (3D)

1HFH (3D)

1HFI (3D)

1KOV (3D)

Secondary accessions: A5PL14 P78435 Q14570 Q2TAZ5 Q38G77 Q5TFM3 Q8N708 Q9NU86

Alternative splicing: 2 isoforms: P08603-1 P08603-2

Explore the universe of human proteins at neXtProt for CFH: NX_P08603

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P08603

CFH Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000177.2 NP_001014975.1

ENSEMBL proteins:

ENSP00000356399 ENSP00000352658 ENSP00000402656

Reactome Protein details: P08603
Human Recombinant Protein Products for CFH:

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	Novus Biologicals CFH Proteins Novus Biologicals CFH Lysates
	Sino Biological Recombinant Protein for CFH
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CFH

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005615	extracellular space	TAS	9312129

CFH for ontologies About GeneDecksing

CFH Antibody Products:

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	Uscn Antibodies for CFH
	ThermoFisher Antibody for CFH

Assay Products for CFH:

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	Uscn ELISAs and CLIAs for CFH

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CFH for domains About GeneDecksing

1 InterPro domain/family:

IPR000436 Sushi_SCR_CCP

Graphical View of Domain Structure for InterPro Entry P08603

ProtoNet protein and cluster: P08603

1 Blocks protein family: IPB000436 Sushi domain/SCR domain/CCP module

UniProtKB/Swiss-Prot: CFAH_HUMAN, P08603

Similarity: Contains 20 Sushi (CCP/SCR) domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: CFAH_HUMAN, P08603

Function: 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

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	18627465
GO:0008201	heparin binding	IDA	--
GO:0043395	heparan sulfate proteoglycan binding	IDA	--

CFH for ontologies About GeneDecksing

Phenotypes:
7 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Cfh):

cardiovascular system	hematopoietic system	homeostasis/metabolism	immune system	mortality/aging
normal	renal/urinary system

CFH for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Cfh^tm1Mbo for CFH

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CFH

miRNA Products:		miRTarBase miRNAs that target CFH: hsa-mir-146a (MIRT000303)

		OriGene 3'-UTR Clone (see all 2): CFH Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CFH
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		SwitchGear 3'UTR luciferase reporter plasmid: CFH 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CFH (see all 7) OriGene shRNA RFP: CFH OriGene siRNA: CFH
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		Sirion Biotech Custom design and validation of potent shRNA sequences against CFH

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		GenScript: all cDNA clones in your preferred vector (see all 2): CFH (NM_000186)
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CFH

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Immune System

Immune System

1.00

Innate Immune System

0.46

Immune response_Alternative complement pathway

Immune response Alternative complement pathway

1.00

Immune response_Alternative complement pathway

1.00

Staphylococcus aureus infection

Staphylococcus aureus infection

1.00

Complement and coagulation cascades

Complement and coagulation cascades

1.00

Cleavage of Alpha-1-Microglobulin

Complement cascade

0.47

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for CFH

Immune response Alternative complement pathway

1 GeneGo (Thomson Reuters) Pathway for CFH

Immune response Alternative complement pathway

4 Reactome Pathways for CFH

	Regulation of Complement cascade
	Complement cascade
	Immune System
	Innate Immune System

2 Kegg Pathways (Kegg details for CFH):

	Complement and coagulation cascades
	Staphylococcus aureus infection

CFH for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CFH

STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

5/21 Interacting proteins for CFH (P08603^{1, 3} ENSP00000356399⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 21)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
C3	P01024³, ENSP00000245907⁴	I2D: score=3 STRING: ENSP00000245907
ADM	P35318³, ENSP00000278175⁴	I2D: score=2 STRING: ENSP00000278175
CFI	P05156³, ENSP00000378130⁴	I2D: score=2 STRING: ENSP00000378130
DMP1	Q13316³, ENSP00000340935⁴	I2D: score=1 STRING: ENSP00000340935
CRP	P02741³, ENSP00000255030⁴	I2D: score=3 STRING: ENSP00000255030

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006956	complement activation	TAS	9312129
GO:0006957	complement activation, alternative pathway	IEA	--
GO:0030449	regulation of complement activation	TAS	--
GO:0045087	innate immune response	TAS	--

CFH for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CFH for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CFH
10/23 Novoseek chemical compound relationships for CFH gene (see all 23) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
heparin	55.1	65	9531293 (6), 17580967 (3), 16192651 (3), 16263173 (2) (see all 22)
pneumococcal	43.2	19	15232165 (4), 18981135 (2), 15210807 (2), 17020554 (2) (see all 8)
serine	23.2	17	18682806 (1), 19187590 (1), 19519580 (1), 19169232 (1) (see all 10)
glycosaminoglycan	18.4	6	16192651 (2), 20394361 (1)
sialic acid	13.7	8	9480984 (2), 16263173 (1), 12471127 (1), 16751403 (1)
histidine	12	4	19029036 (1), 17352366 (1), 19505476 (1)
quinine	7.46	3	7679450 (2)
glucose	1.29	2	16402205 (1), 19833879 (1)
cardiolipin	0.988	3	11204589 (1), 7646462 (1)
cholesterol	0	8	18718667 (2), 19833879 (1), 18721807 (1), 19026761 (1)

Search CenterWatch for drugs/clinical trials and news about CFH / CFAH

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CFH gene (2 alternative transcripts):

NM_000186.3 NM_001014975.2

Unigene Cluster for CFH:

Complement factor H

Hs.363396 [show with all ESTs]

Unigene Representative Sequence: AK226113

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000367429(uc001gtj.4) ENST00000496761 ENST00000359637 ENST00000466229

ENST00000470918 ENST00000439155(uc001gti.4 uc009wyw.3 uc009wyx.3)

miRNA Products:		OriGene 3'-UTR Clone (see all 2): CFH Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CFH
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate CFH
		SwitchGear 3'UTR luciferase reporter plasmid: CFH 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		Sirion Biotech Custom design and validation of potent shRNA sequences against CFH

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CFH
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CFH

Additional cDNA sequence:

AK091797.1 AK225649.1 AK226113.1 AK291395.1 BC012610.1 BC037285.2 BC073982.1 BC110643.1

BC142699.1 M12383.1 M17517.1 M65294.1 X04697.1 X07523.1 Y00716.1

21 DOTS entries:

DT.100807064 DT.87015918 DT.91986300 DT.95212002 DT.121453969 DT.121453952 DT.95212008 DT.92463764

DT.92463753 DT.92463775 DT.121454010 DT.40303550 DT.100736629 DT.100828427 DT.121453935 DT.91854819

DT.99942217 DT.100828419 DT.100828430 DT.92463758 DT.92463780

24/74 AceView cDNA sequences (see all 74):

BM708539 BI492778 W76166 BU730835 H42003 N40585 N38969 H64033

N21984 W72541 BX501182 H42002 AW021849 H63986 N71188 AV682117

AV685866 BM955641 AI476438 AI922771 AA194256 N25887 AI274261 AI636337

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for CFH (see all 6) About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5	^	6a	·	6b	^	7a	·	7b	^	8	^	9	^	10	^	11a	·	11b	^	12	^	13	^	14	^	15	^	16	^	17	^	18
SP1:																									-
SP2:											-														-
SP3:																									-		-		-
SP4:
SP5:

ECgene alternative splicing isoforms for CFH

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CFH expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTGGGATGGG

About this image

CFH expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/18 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 18)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Zeugopod Epiphyseal End

Chondrocytes

Bone, Cartilage

Brain

Blood Brain Barrier

Adult Endothelial Cells

Blood Brain Barrier, Endothelium

Kidney

Metanephric Mesenchyme

Metanephric Mesenchyme Cells

Kidney

Spinal Cord

Spinal Dorsal Columns

Dorsal Spinal Cord Progenitor Cells

Spinal Cord

Spinal Ventral Columns

Ventral Spinal Cord Progenitor Cells

Motor Neurons

Adipose

Thoracic Perivascular Adipose

Adipose

Visceral White Adipose

Adipose

Bone

Bone

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 10/12 LifeMap Cells (see all 12)

Name

Category

PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ progenitor EN13 (Embryonic Progenitor Cell)

PureStem™ progenitor EN7 (Embryonic Progenitor Cell)

PureStem™ progenitor RASMO12 (Embryonic Progenitor Cell)

PureStem™ progenitor U31 (Embryonic Progenitor Cell)

Blimp1- mVenus and stella-ECFP genetically modified stem cells (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Fetal cardiomyocytes (20 weeks) (Primary Cell)

Heart, Myocardium

CD31, CD144 positive cells (Two-step protocol fo...)

HyStem+BMP4-induced SK11 cells (HyStem+BMP4 inductio...)

Bone, Cartilage

See CFH Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CFH

SOURCE GeneReport for Unigene cluster: Hs.363396

UniProtKB/Swiss-Prot: CFAH_HUMAN, P08603

Tissue specificity: Expressed by the liver and secreted in plasma

SABiosciences Custom PCR Arrays for CFH

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CFH

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CFH

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for CFH gene from 4/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CFH¹	complement factor H	54.53(n) 40.13(a)		429057 XM_426613.3 XP_426613.3
lizard (Anolis carolinensis)	Reptilia	-- -- (see all 3)	--	38(a) 35(a) (see all 3)	possible ortholog possible ortholog (see all 3)	GL343440.1(798097-825141) GL343432.1(118490-172091)
zebrafish (Danio rerio)	Actinopterygii	LOC100329235¹	complement factor H-like	49.4(n) 39.57(a)		100329235 XM_002666292.2 XP_002666338.2
worm (Caenorhabditis elegans)	Secernentea	T07H6.4⁶	Protein T07H6.4	6(a)	possible ortholog	X(6281881-6286136)

ENSEMBL Gene Tree for CFH (if available)
TreeFam Gene Tree for CFH (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CFH gene

F13B² CFHR4² APOH² CFHR5² CFHR2² CFHR3² CFHR1²

7 SIMAP similar genes for CFH using alignment to 3 protein entries: CFAH_HUMAN (see all proteins):

HF CFHR3 CFHR1 CFHR2 CFHR5 CFHR4

FHR4

CFH for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121913054^1,2	C	pathogenic	196646743(+)	`ATGAAA/G/TAAATG`	6	K E *	mis¹ stg¹		1		NA	4544
rs1061170^1,2	C,F,A,H	pathogenic	196659237(+)	`AAAATT/CATGGA`	4	/H /Y	mis¹		20		MN NS EA NA WA CSA EU	6709
rs460184^1,2	C,F,A,H	pathogenic	196716337(-)	`ATTCAA/GCTGAT`	2	A V	mis¹		5		NS NA	290
rs121913059^1,2	C	pathogenic	196716375(+)	`CATCAC/TGTTCT`	2	R C	mis¹		1		NA	4550
rs34941217^1,2	C,F	--	196619336(+)	`GGGACG/AGGTGG`	2	--	us2k¹		6		NS NA CSA WA	204
rs505102^1,2	C,F,H	--	196619502(-)	`CCTCTA/GTATCC`	2	--	us2k¹		24		NS EA NA WA CSA	2436
rs147962496^1,2		--	196619627(+)	`CTTGGC/GCTTCG`	2	--	us2k¹		0	--	--	--	--
rs183452714^1,2		--	196619706(+)	`CGCACC/GGGTGC`	2	--	us2k¹		0	--	--	--	--
rs539917^1,2	C,F,H	--	196619707(-)	`tgcacC/Aggtgc`	2	--	us2k¹		11		NA NS WA CSA EA	464
rs35558539^1,2	C,F,H	--	196619720(+)	`TGTGTG/ACTCCC`	2	--	us2k¹		8		NS NA WA	768

HapMap Linkage Disequilibrium report for CFH (196621008 - 196716634 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 16 variations for CFH
15/16 CNVs (see all 16): 2054 70900 0686 84768 74846 2343 84772 30448 74845 31680 9384 9385 84770 3325 58354
Human Gene Mutation Database (HGMD): CFH

Locus Specific Mutation Databases (LSDB): CFH

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CFH

DNA2.0 Custom Variant and Variant Library Synthesis for CFH

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CFH for disorders           About GeneDecksing

OMIM gene information: 134370
OMIM disorders: 235400  609814  610698  126700
UniProtKB/Swiss-Prot: CFAH_HUMAN, P08603

Genetic variations in CFH are associated with basal laminar drusen (BLD) [MIM:126700]; also known as drusen of

Bruch membrane or cuticular drusen or grouped early adult-onset drusen. Drusen are extracellular deposits that

accumulate below the retinal pigment epithelium on Bruch membrane. Basal laminar drusen refers to an early adult-onset

drusen phenotype that shows a pattern of uniform small, slightly raised yellow subretinal nodules randomly scattered

in the macula. In later stages, these drusen often become more numerous, with clustered groups of drusen scattered

throughout the retina. In time these small basal laminar drusen may expand and ultimately lead to a serous pigment

epithelial detachment of the macula that may result in vision loss

Defects in CFH are the cause of complement factor H deficiency (CFHD) [MIM:609814]. A disorder that can

manifest as several different phenotypes, including asymptomatic, recurrent bacterial infections, and renal failure.

Laboratory features usually include decreased serum levels of factor H, complement component C3, and a decrease in

other terminal complement components, indicating activation of the alternative complement pathway. It is associated

with a number of renal diseases with variable clinical presentation and progression, including membranoproliferative

glomerulonephritis and atypical hemolytic uremic syndrome

Defects in CFH are a cause of susceptibility to hemolytic uremic syndrome atypical type 1 (AHUS1)

[MIM:235400]. An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by

microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and

diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death

rates and frequent progression to end-stage renal disease. Note=Susceptibility to the development of atypical

hemolytic uremic syndrome can be conferred by mutations in various components of or regulatory factors in the

complement cascade system. Other genes may play a role in modifying the phenotype

Genetic variation in CFH is associated with age-related macular degeneration type 4 (ARMD4) [MIM:610698]. ARMD

is a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most

patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid (known

as drusen) that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch

membrane

20/79 diseases for CFH (see all 79): About MalaCards

hemolytic-uremic syndrome age-related maculopathy factor h and factor h-like maculopathy

kuhnt-junius degeneration complement factor h deficiency membranoproliferative glomerulonephritis atypical hemolytic-uremic syndrome

membranoproliferative glomerulonephritis with cfh deficiency nephropathy thrombotic thrombocytopenic purpura spirochetes disease

catastrophic antiphospholipid syndrome relapsing fever dengue hemorrhagic fever macular degeneration

8 diseases from the University of Copenhagen DISEASES database for CFH:

Retinal drusen Kidney disease Thrombotic thrombocytopenic purpura Brain oligodendroglioma

10/47 Novoseek disease relationships for CFH gene (see all 47) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
uremic syndrome	91	61	17517971 (2), 20202729 (2), 16362720 (2), 18089972 (2) (see all 42)
drusen	81.2	19	18252232 (4), 18043728 (2), 17210858 (2), 20038862 (1) (see all 11)
maculopathy age-related	81.1	22	18766990 (2), 20038862 (2), 19823576 (1), 16774956 (1) (see all 13)
glomerulonephritis membranoproliferative	80.2	19	17785294 (1), 16023208 (1), 16299065 (1), 16936129 (1) (see all 14)
anemia hemolytic microangiopathic	74.4	2	15800115 (1), 17526759 (1)
purpura thrombotic thrombocytopenic	71.2	17	12020532 (1), 1751375 (1), 10544747 (1), 14615110 (1) (see all 11)
blindness	67.8	9	16905558 (1), 17785294 (1), 17339482 (1), 18252232 (1) (see all 7)
hemolytic-uremic syndrome	64.3	6	11446651 (2), 17022693 (1), 2024653 (1), 17526759 (1) (see all 5)
choroidal neovascularization	59	4	18682806 (2), 18515569 (1), 17995985 (1)
lyme disease	55.1	7	18706858 (2), 19858303 (1), 17160605 (1), 16622245 (1) (see all 6)

GeneTests: CFH

Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II

Atypical Hemolytic-Uremic Syndrome

Genetic Association Database (GAD): CFH
Human Genome Epidemiology (HuGE) Navigator: CFH (233 documents)

Export disorders for CFH gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for CFH gene, integrated from 9 sources (see all 693):
(articles sorted by number of sources associating them with CFH)

Utopia: connect your pdf to the dynamic
world of online information

Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease. (PubMed id 14583443)^{1, 2, 4, 9} Caprioli J.... Noris M. (2003)
Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. (PubMed id 10577907)^{1, 2, 4, 9} Ying L.... Landau D. (1999)
A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. (PubMed id 15870199)^{1, 2, 4, 9} Hageman G.S.... Allikmets R. (2005)
Complement factor H polymorphism in age-related macular degeneration. (PubMed id 15761122)^{1, 2, 4, 9} Klein R.J.... Hoh J. (2005)
Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. (PubMed id 15895326)^{1, 2, 4} Zareparsi S.... Swaroop A. (2005)
Complement factor H polymorphism and age-related macular degeneration. (PubMed id 15761121)^{1, 2, 4} Edwards A.O....Farrer L.A. (2005)
Complement factor H variant increases the risk of age-related macular degeneration. (PubMed id 15761120)^{1, 2, 4} Haines J.L.... Pericak-Vance M.A. (2005)
Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries. (PubMed id 12960213)^{1, 2, 4} Neumann H.P.H....Zipfel P.F. (2003)
The complete amino acid sequence of human complement factor H. (PubMed id 2963625)^{1, 2, 3} Ripoche J.... Sim R.B. (1988)
Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease). (PubMed id 16299065)^{1, 4, 9} Abrera-Abeleda M.A....Smith R.J. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 3075	HGNC: 4883	AceView: CFH.1	Ensembl:ENSG00000000971	euGenes: HUgn3075
ECgene: CFH	Kegg: 3075	H-InvDB: CFH

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for CFH	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CFH	Genetics and Cytogenetics in Oncology and Haematology
CFHbase	http://bioinf.uta.fi/CFHbase/
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CFH
SeattleSNPs	http://pga.gs.washington.edu/data/cfh/

Intellectual Property for CFH gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for CFH gene:
Search GeneIP for patents involving CFH

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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CFH Gene

complement factor H

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CFH (Gene Symbol)
Complement Factor H
HF1
HF
HF2
ARMD4
HUS
ARMS1
FHL1
H Factor 1 (Complement)
AHUS1
AMBP1
CFHL3
FH
Adrenomedullin Binding Protein
Age-Related Maculopathy Susceptibility 1
Beta-1-H-Globulin
Beta-1H
Factor H
Factor H-Like 1
H Factor 2 (Complement)
H Factor 1

Visual loss
Fatal Outcome
Autoimmune Diseases
bladder cancer
ANEMIA HEMOLYTIC MICROANGIOPATHIC
Blindness
Genetic Susceptibility
UREMIC SYNDROME
Anemia Hemolytic
Serum Sickness
Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
spirochetes disease
Atypical Hemolytic-Uremic Syndrome
Glomerulonephritis Membranoproliferative
Alzheimers Disease
Purpura Thrombotic Thrombocytopenic
NSCLC
Antiphospholipid Syndrome
cell damage
Cancer
VISUAL IMPAIRMENT
Hemolysis
Thrombocytopenia
Cancer Lung
Hypocomplementemia
Myocardial Infarction
Lyme Disease
Coronary Artery Disease
Maculopathy Age-Related
Hemolytic-Uremic Syndrome
RENAL DISEASE
Nephropathy IGA
glomerulosclerosis
Inflammation
Choroidal Neovascularization
OBESITY
Drusen
Atrophy
Anemia
Renal Failure
Tumors
Cardiovascular Diseases
Thrombosis
Glomerulonephritis
Renal Failure Acute
Relapsing Fever
Coronary Heart Disease
Renal Failure Chronic
Lupus Erythematosus Systemic

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CFH Gene

complement factor H

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