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CFH Gene

protein-coding GIFtS: 69

GC01P194887

complement factor H
(Previous name: H factor 1 (complement) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: HF, HF1, HF2)

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

Aliases
ARMD4 ^², ⁵
ARMS1 ^¹, ²
CFHL3 ^²
FH ^²
FHL1 ^¹, ²
HF ^², ³
HF1 ^², ³, ⁵
HF2 ^², ³
HUS ^¹, ², ⁵
MGC88246 ^²
OTTHUMP00000033598 ^²
beta-1-H-globulin ^²
beta-1H ^²

Descriptions
H factor 1 ^³
H factor 1 (complement) ^¹, ²
H factor 2 (complement) ^²
age-related maculopathy susceptibility 1 ^²
complement factor H ^²
complement factor H, isoform b ^²
factor H ^²
factor H-like 1 ^²

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

Search outside databases for aliases for CFH gene

Previous GC identifer: GC01P193352

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

EntrezGene summary for CFH:

This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a

protein with twenty short concensus 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]

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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the CFH gene

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)

GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P194887: (about GC identifiers)

Start:	194,887,764 bp from pter
End:	194,983,257 bp from pter
Size:	95,494 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000001.9 NT_004487.18

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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;

PDB structures from and Proteopedia :

1FHC (3D)

1HAQ (3D)

1HCC (3D)

1HFH (3D)

1HFI (3D)

1KOV (3D)

2BZM (3D)

2G7I (3D)

2IC4 (3D)

2JGW (3D)

2JGX (3D)

2QFG (3D)

2QFH (3D)

2RLP (3D)

2RLQ (3D)

2UWN (3D)

2V8E (3D)

2W80 (3D)

2W81 (3D)

Secondary accessions: A5PL14 P78435 Q14570 Q2TAZ5 Q38G77 Q5TFM3 Q8N708 Q9NU86

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

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_000177.2 NP_001014975.1

ENSEMBL proteins:

ENSP00000356399 ENSP00000352658 ENSP00000375846 ENSP00000356398

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich Proteins for CFH
	R&D Systems Recombinant & Natural Proteins for CFH (Complement Factor H)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Factor H)
	Human Recombinant Proteins from Abnova (CFH)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

2 Gene Ontology (GO) cellular component terms (links to tree view):

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

About this table

Antibodies for CFH:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse Antibodies at Sigma-Aldrich
	R&D Systems Antibodies for CFH (Complement Factor H)
	Antibodies from Abcam (Factor H), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (CFH)
	Novus Biologicals Antibodies for CFH

Assays for CFH:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (CFH)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000186

Applied Biosystems Silencer® siRNAs for CFH

Sigma-Aldrich siRNA for CFH

Sigma-Aldrich shRNA for CFH

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for CFH
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000186
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000186
untagged cDNA clones in CMV expression vector (see all 2): NM_000186

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000186

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

6 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Cfh):

	homeostasis/metabolism	immune system	life span-post-weaning/aging	normal
renal/urinary system

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

1 Sigma-Aldrich "Your Favorite Gene" Pathway for CFH (Your Favorite Gene powered by Ingenuity)

Complement System

GeneDecks CFH for the pathways selected above

About GeneDecksing

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

5/35 Interacting proteins for CFH (ENSP00000356399³) via UniProtKB, MINT, and/or STRING (see all 35 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
C3	ENSP00000245907³	STRING (score=.997)
CRP	ENSP00000255030³	STRING (score=.982)
C5AR1	ENSP00000347197³	STRING (score=.969)
ADM	ENSP00000278175³	STRING (score=.963)
THBS1	ENSP00000260356³	STRING (score=.955)

About this table

1 Gene Ontology (GO) biological process term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006957	complement activation, alternative pathway	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for CFH
10 Novoseek chemical compound relationships for CFH gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
sialic acid	16.85	8	9480984 (2), 16263173 (1), 12471127 (1), 16751403 (1)
glycosaminoglycan	14.75	2	16192651 (2)
histidine	10.18	3	19029036 (1), 17352366 (1)
cardiolipin	4.27	3	11204589 (1), 7646462 (1)
glucose	1.10	1	16402205 (1)
fibrinogen	0.00	5	18515569 (1), 1452335 (1), 8165617 (1)
nacl	0.00	2	12228288 (1)
cholesterol	0.00	7	18718667 (2), 18721807 (1), 19026761 (1)
zinc	0.00	6	18855541 (3)
tyrosine	0.00	5	17352366 (1), 17398321 (1), 18805611 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (CFH)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000186

Sigma-Aldrich siRNA for CFH

Sigma-Aldrich shRNA for CFH

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000186 NM_001014975

REFSEQ mRNAs for CFH gene (2 alternative transcripts):

NM_000186.3 NM_001014975.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000186 NM_001014975

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000186
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000186
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_000186

Additional cDNA sequence:

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

BC142699.1 CR598844.1 CR601432.1 CR616715.1 M12383.1 M17517.1 M65294.1 X04697.1

X07523.1 Y00716.1

20 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.100828419 DT.100828427 DT.121453935

DT.91854819 DT.99942217 DT.92463758 DT.92463780

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

BI492778 BM708539 BU730835 W76166 N40585 W72541 N38969 AW021849

BX501182 H42002 H42003 H64033 N21984 AV682117 H63986 N71188

AV685866 AA194256 BM955641 AI476438 AI922771 BE771618 AW181912 AI301649

highest scoring ESTs for CFH:

AA425660 AA625237 AA705945 AA953249 AI038982 AI086285 AI123540 AI128250 AI142452 AI151165

Unigene Cluster for CFH:

Complement factor H

Hs.363396 [show with all ESTs]

Unigene Representative Sequence: AK226113

GeneLoc Exon Structure

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

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:

About this scheme

ECgene alternative splicing isoforms for CFH

4 Ensembl transcripts including schematic representations:

ENST00000367429 ENST00000359637 ENST00000391986 ENST00000367428

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

CFH expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for CFH

¹ / ² / ³

6 probe-sets matching CFH gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
32250_at²^{, 3}	U95-A	1	1.00	1.00	0.98	1.02	X07523	0.80	1.00	0.91	1
32249_at²^{, 3}	U95-A	2	1.00	0.50	0.99	0.98	M65292	0.40	0.38	0.39	2
213800_at²^{, 3}	U133-A	1	1.00	1.00	--	--	X04697	0.40	1.00	0.76	1
215388_s_at²	U133-A	2	1.00	0.50	--	--	--	--	--	--	--
213800_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
215388_s_at²	U133Plus2	2	1.00	0.50	--	--	--	--	--	--	--

GeneDecks CFH for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TTGGGATGGG

SOURCE GeneReport for Unigene cluster: Hs.363396
Expression variation in blood from EXPOLDB for CFH
UniProtKB/Swiss-Prot: CFAH_HUMAN, P08603
Tissue specificity: Expressed by the liver and secreted in plasma

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for CFH gene from 5/6 species (see all 6 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	CFH¹	--	complement factor H	75.53(n) 60.31(a)	478952 XM_536110.2 XP_536110.2
chimpanzee (Pan troglodytes)	CFH¹	--	complement factor H	98.62(n) 97.32(a)	457601 XM_001136531.1 XP_001136531.1
cow (Bos taurus)	CFH¹	--	complement factor H	75.16(n) 61.69(a)	280816 XM_001254784.1 XP_001254785.1
rat (Rattus norvegicus)	Cfh¹	--	complement factor H	73.32(n) 64.22(a)	155012 NM_130409.2 NP_569093.2
mouse (Mus musculus)	Cfh^{1, 5}	1 (74.10 cM)⁵	complement component factor h^{1, 5}	72.46(n)¹ 61.96(a)¹	12628¹ NM_009888.3¹ NP_034018.2¹ AI987976⁵ AK075670⁵ (see all 12)

About this table Species with no ortholog for CFH

ENSEMBL Gene Tree for CFH

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

Paralogs for CFH gene

CFHR4² F13B² CFHR2² CFHR5² CFHR3² CFHR1²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/748 NCBI SNPs in CFH are shown (see all 748 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 229)

AB	SNP ID	Valid	Chr 1 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs800292^1,2	A,C,F,H,O	194908856(-)	`TATTAC/TATTTC`	2	V/I	mis¹		24	MN EU EA WA CSAM NA NS	2100
	rs4658046^1,2	A,C,F,H	194937380(+)	`aatctT/Cgtaac`	2	--	ng3¹ int¹		4	EU EA WA	358
	rs3753394^1,2	A,C,F,H	194887540(+)	`GATATC/TACCAG`	2	--	ng5¹		21	EA NA MN EU WA NS	2944
	rs515299^1,2	C,F,H,O	194973300(-)	`CATAAC/ATTTCT`	1	I/S	mis¹		21	EA NA MN EU WA NS	1726
	rs488738^1,2	A,C,F,H	194983244(-)	`CCAGGA/TTTTAA`	1	--	ut3¹ ese³		7	MN EU EA WA NS	686
--	rs1061170^1,2	A,C,F,H	194925860(+)	`AAAATT/CATGGA`	2	Y/H	mis¹		7	MN EU EA WA NS	680
	rs534399^1,2	A,C,F,H	194977690(-)	`ATACAC/AATCCT`	1	L/V	mis¹ ese³		13	EU EA WA NA NS	1054
	rs1065489^1,2	C,F,H	194976397(+)	`CCTGAG/TATTTC`	1	E/D	mis¹		13	EA EU WA NA NS	2358
	rs505102^1,2	C,F,H	194886125(-)	`cctctA/Gtatcc`	2	--	ng5¹		6	EU EA WA NS	510
--	rs460184^1,2	A,F,H	194982960(-)	`ATTCAA/GCTGAT`	1	V/A	mis¹		2	EU WA	236

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HapMap Linkage Disequilibrium images for CFH (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 134370

UniProtKB/Swiss-Prot: CFAH_HUMAN, P08603

Genetic variations in CFH are associated with basal laminar drusen [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 (CFH deficiency)

[MIM:609814]. CFH deficiency determines uncontrolled activation of the alternative complement

pathway with consumption of C3 and often other terminal complement components. It is associated

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

membranoproliferative glomerulonephritis and atypical hemolytic uremic syndrome. CFH deficiency

patients may show increased susceptibility to meningococcal infections

Defects in CFH are a cause of hemolytic-uremic syndrome (HUS) [MIM:235400]. HUS is a

microvasculature disorder leading to microangiopathic hemolytic anemia associated with distorted

erythrocytes ('burr cells'), thrombocytopenia, and acute renal failure. Both dominant and

recessive modes of inheritance have been reported. Most cases of HUS are associated with epidemics

of diarrhea caused by verocytotoxin-producing bacteria, but atypical cases of HUS not associated

with diarrhea (aHUS) also occur

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

10/45 Novoseek disease relationships for CFH gene (see all 45 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
uremic syndrome	88.76	43	17517971 (2), 16362720 (2), 17548524 (2), 16470555 (2) (see all 31)
glomerulonephritis membranoproliferative	79.96	19	17785294 (1), 16023208 (1), 16299065 (1), 16936129 (1) (see all 14)
drusen	77.98	18	18252232 (4), 18043728 (2), 17210858 (2), 17079491 (1) (see all 10)
maculopathy age-related	74.44	10	18766990 (2), 18682806 (1), 16774956 (1), 17000705 (1) (see all 6)
purpura thrombotic thrombocytopenic	69.27	16	12020532 (1), 1751375 (1), 10544747 (1), 14615110 (1) (see all 10)
blindness	67.79	9	16905558 (1), 17785294 (1), 17339482 (1), 18252232 (1) (see all 7)
anemia hemolytic microangiopathic	66.77	2	15800115 (1), 17526759 (1)
hemolytic-uremic syndrome	63.93	6	11446651 (2), 17022693 (1), 2024653 (1), 17526759 (1) (see all 5)
choroidal neovascularization	60.18	4	18682806 (2), 18515569 (1), 17995985 (1)
spirochetes disease	55.37	2	18706858 (1), 16622245 (1)

About this table

GeneTests: CFH

Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II

Human Gene Mutation Database: CFH
Genetic Association Database: CFH
Human Genome Epidemiology Navigator: CFH (150 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/439 PubMed articles for CFH gene (see all 439 ):

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, 3, 4, 6} Caprioli J.... Noris M. (2003)
Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. (PubMed id 10577907)^{1, 3, 4, 6} 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, 3, 4, 6} Hageman G.S.... Allikmets R. (2005)
Complement factor H polymorphism and age-related macular degeneration. (PubMed id 15761121)^{3, 4, 6} Edwards A.O....Farrer L.A. (2005)
Complement factor H variant increases the risk of age-related macular degeneration. (PubMed id 15761120)^{3, 4, 6} Haines J.L.... Pericak-Vance M.A. (2005)
Complement factor H polymorphism in age-related macular degeneration. (PubMed id 15761122)^{3, 4, 6} 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)^{3, 4, 6} Zareparsi S.... Swaroop A. (2005)
Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries. (PubMed id 12960213)^{3, 4, 6} Neumann H.P.H....Zipfel P.F. (2003)
The complete amino acid sequence of human complement factor H. (PubMed id 2963625)^{2, 3, 4} 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, 3, 6} Abrera-Abeleda M.A....Smith R.J. (2006)

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

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

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for CFH	Genetics and Cytogenetics in Oncology and Haematology
CFHbase	http://bioinf.uta.fi/CFHbase/
GeneReviews	http://www.genetests.org/query?gene=CFH
SeattleSNPs	http://pga.gs.washington.edu/data/cfh/

Licensable Technologies for CFH
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for CFH:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for CFH-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for CFH		Browse antibodies at Sigma-Aldrich
	Explore super-pooled esiRNAs		Proteins for CFH
	Lentivirus-delivered shRNAs for CFH		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (CFH)
	Antibodies (CFH)
	Search for Chimera RNAi
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Search for Antibodies & Assays

	Recombinant Proteins (Factor H)
	Antibodies (Factor H)

Search OriGene for CFH

Search Tocris compounds for CFH

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for CFH

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

about GIFtS

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
CFH Gene at Home site.
Version 2.41.1
server5.xennexinc.com

CFH Gene

protein-coding GIFtS: 69

Aliases &
Descriptions
for CFH

Summaries
for CFH

Genomic Location
for CFH

Proteins
for CFH

Protein Domains/
Families
for CFH

Gene Function
for CFH

Pathways & Interactions
for CFH

Drugs & Compounds
for CFH

Transcripts
for CFH

Expression
for CFH

Orthologs
for CFH

Paralogs
for CFH

SNPs/Variants
for CFH

Disorders & Mutations
for CFH

Medical News
for CFH

Publications
for CFH

Search for CFH

Genome Databases showing CFH

Other Databases showing CFH

Specialized Databases showing CFH

Licensable Technologies
for CFH

Services
for CFH

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

CFH (Gene Symbol)
ARMD4
ARMS1
CFHL3
FH
FHL1
HF
HF1
HF2
HUS
MGC88246
OTTHUMP00000033598
beta-1-H-globulin
beta-1H
H factor 1
H factor 1 (complement)
H factor 2 (complement)
age-related maculopathy susceptibility 1
complement factor H
complement factor H, isoform b
factor H
factor H-like 1

CFH Gene

protein-coding GIFtS: 69

Aliases & Descriptionsfor CFH

Summariesfor CFH

Genomic Locationfor CFH

Proteinsfor CFH

Protein Domains/Familiesfor CFH

Gene Functionfor CFH

Pathways & Interactionsfor CFH

Drugs & Compoundsfor CFH

Transcriptsfor CFH

Expression for CFH

Orthologsfor CFH

Paralogsfor CFH

SNPs/Variantsfor CFH

Disorders & Mutationsfor CFH

Medical Newsfor CFH

Publicationsfor CFH

Search for CFH

Genome Databases showing CFH

Other Databases showing CFH

Specialized Databases showing CFH

Licensable Technologiesfor CFH

Servicesfor CFH

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for CFH

Summaries
for CFH

Genomic Location
for CFH

Proteins
for CFH

Protein Domains/
Families
for CFH

Gene Function
for CFH

Pathways & Interactions
for CFH

Drugs & Compounds
for CFH

Transcripts
for CFH

Expression
for CFH

Orthologs
for CFH

Paralogs
for CFH

SNPs/Variants
for CFH

Disorders & Mutations
for CFH

Medical News
for CFH

Publications
for CFH

Licensable Technologies
for CFH

Services
for CFH