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CFH Gene

protein-coding   GIFtS: 71
GCID: GC01P196621

Complement Factor H

(Previous name: H factor 1 (complement))
(Previous symbols: HF, HF1, HF2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Complement Factor H1 2     AMBP12
HF11 2 3 5     ARMS12
HF1 2 3     CFHL32
HF21 2 3     FH2
H Factor 1 (Complement)1 2     FHL12
Age-Related Maculopathy Susceptibility 11 2     Adrenomedullin Binding Protein2
beta-1H1 2     beta-1-H-globulin2
H Factor 2 (Complement)1 2     Factor H2
AHUS12 5     Factor H-Like 12
ARMD42 5     H Factor 13
HUS2 5     

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

Export aliases for CFH gene to outside databases

Previous GC identifers: GC01P193352 GC01P194887 GC01P167862


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CFH Gene:
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)

GeneCards Summary for CFH Gene:
CFH (complement factor H) is a protein-coding gene. Diseases associated with CFH include spirochetes disease, and complement factor h deficiency. GO annotations related to this gene include heparin binding and heparan sulfate proteoglycan binding. An important paralog of this gene is CFHR4.

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) Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CFH gene promoter:
         TBP   AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCFH promoter sequence
   Search Chromatin IP Primers for CFH

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CFAH_HUMAN, P08603 (See protein sequence)
Recommended Name: Complement factor H precursor  
Size: 1231 amino acids; 139096 Da
Caution: According to a report, Asn-217 is not glycosylated (PubMed:17591618). Another study observed
glycosylation at this position (PubMed:19139490)
Sequence caution: Sequence=CAB41739.1; Type=Frameshift; Positions=341;
Selected PDB 3D structures from and Proteopedia for CFH (see all 38):
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

Explore proteomics data for CFH at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn529, Asn718, Asn802, Asn822, Asn882, Asn911, Asn1029, Asn1095
  • Modification sites at PhosphoSitePlus

  • See CFH Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000177.2  NP_001014975.1  

    ENSEMBL proteins: 
     ENSP00000356399   ENSP00000352658   ENSP00000402656  
    Reactome Protein details: P08603

    CFH Human Recombinant Protein Products:

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    Novus Biologicals CFH Lysates
    Sino Biological Recombinant Protein for CFH
    Sino Biological Cell Lysate for CFH
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    Cloud-Clone Corp. Proteins for CFH

    CFH Antibody Products:

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    Novus Biologicals CFH Antibodies
    Abcam antibodies for CFH
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    LSBio Antibodies in human, mouse, rat for CFH

    CFH Assay Products:

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    Cloud-Clone Corp. ELISAs for CFH
    Cloud-Clone Corp. CLIAs for CFH


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    complement: Complement system

    1 InterPro protein domain:
     IPR000436 Sushi_SCR_CCP

    Graphical View of Domain Structure for InterPro Entry P08603

    ProtoNet protein and cluster: P08603

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

    UniProtKB/Swiss-Prot: CFAH_HUMAN, P08603
    Similarity: Contains 20 Sushi (CCP/SCR) domains


    CFH for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16612335
    GO:0008201heparin binding IDA--
    GO:0043395heparan sulfate proteoglycan binding IDA--
         
    CFH for ontologies           About GeneDecksing


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cfh):
     cardiovascular system  hematopoietic system  homeostasis/metabolism  immune system  mortality/aging 
     nervous system  normal  other  pigmentation  renal/urinary system 
     vision/eye 

    CFH for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cfhtm1Mbo for CFH

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CFH
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CFH
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CFH

    miRNA
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    hsa-mir-146a-5p (MIRT000303)

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    SwitchGear 3'UTR luciferase reporter plasmidCFH 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CFH

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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CFH (NM_000186)
    Sino Biological Human cDNA Clone for CFH
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CFH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CFH

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CFH


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CFAH_HUMAN, P08603: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane2
    cytoskeleton1
    endoplasmic reticulum1
    golgi apparatus1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space TAS9312129
    GO:0072562blood microparticle IDA--

    CFH for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CFH About    
    See pathways by source

    SuperPathContained pathways About
    1Complement Pathway
    Immune response Alternative complement pathway0.56
    Complement Activation Pathways0.30
    Regulation of Complement cascade0.48
    2Complement and coagulation cascades
    Complement and coagulation cascades0.71
    3Creation of C4 and C2 activators
    Complement cascade0.68
    4Staphylococcus aureus infection
    Staphylococcus aureus infection

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for CFH
        Immune response Alternative complement pathway

    1 Sino Biological Pathway for CFH
        Complement Activation Pathways

    1 Reactome Pathway for CFH
        Regulation of Complement cascade


    2 Kegg Pathways  (Kegg details for CFH):
        Complement and coagulation cascades
    Staphylococcus aureus infection


    CFH for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CFH
    Interactions:

        GeneGlobe Interaction Network for CFH

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

    Selected Interacting proteins for CFH (P086031, 3 ENSP000003563994) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C3P010241, 3, ENSP000002459074EBI-1223708,EBI-6863145 I2D: score=3 STRING: ENSP00000245907
    ADMP353183, ENSP000002781754I2D: score=2 STRING: ENSP00000278175
    CFIP051563, ENSP000003781304I2D: score=2 STRING: ENSP00000378130
    DMP1Q133163, ENSP000003409354I2D: score=1 STRING: ENSP00000340935
    CRPP027413, ENSP000002550304I2D: score=3 STRING: ENSP00000255030
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006956complement activation TAS9312129
    GO:0006957complement activation, alternative pathway IEA--
    GO:0030449regulation of complement activation TAS--
    GO:0045087innate immune response TAS--

    CFH for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CFH (CFAH)

    Selected Novoseek inferred 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)



    CFH for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
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    Predesigned siRNA for gene silencing in human, mouse, rat CFH
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    GenScript: all cDNA clones in your preferred vector (see all 2): CFH (NM_000186)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CFH
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CFH
      QuantiTect SYBR Green Assays in human, mouse, rat CFH
      QuantiFast Probe-based Assays in human, mouse, rat CFH

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 74):

    W76166 BM708539 BI492778 BU730835 N21984 H64033 W72541 N40585 
    BX501182 AW021849 H42002 N38969 H42003 AV682117 N71188 H63986 
    AI922771 AA194256 AI476438 AV685866 BM955641 BG897394 AW195996 T24039 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CFH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGGGATGGG
    CFH Expression
    About this image


    CFH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 25) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 9 entries
             Chondrocytes Zeugopod Epiphyseal End
             Zeugopod Long Bone
             HyStem+BMP4-induced SK11 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 5 entries
             Mesenchymal Condensate Cells Zeugopod
             HyStem+BMP4-induced E15 cells
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Adult Endothelial Cells Blood Brain Barrier
             Medulla Oblongata
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Presumptive Podocytes Podocyte Layer
             Interstitial Stroma
    CFH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CFH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.363396

    UniProtKB/Swiss-Prot: CFAH_HUMAN, P08603
    Tissue specificity: Expressed by the liver and secreted in plasma

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    In Situ
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    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for CFH gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cfh1 , 5 complement component factor h1, 5 72.46(n)1
    61.91(a)1
      1 (61.62 cM)5
    126281  NM_009888.31  NP_034018.21 
     1400858555 
    chicken
    (Gallus gallus)
    Aves CFH1 complement factor H 54.61(n)
    40.21(a)
      429057  XM_426613.4  XP_426613.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    36(a)
    many ↔ many
    GL343440.1(798097-827033)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1017316661 complement factor H-related protein 2-like 48.21(n)
    39.67(a)
      101731666  XM_004921002.1  XP_004921059.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005359291 complement factor H-like 49.05(n)
    34.29(a)
      100535929  XM_003201062.2  XP_003201110.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F36H2.51 F36H2.5 42.28(n)
    27.73(a)
      3565870  NM_001026290.3  NP_001021461.2 


    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)
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    Paralogs for CFH gene
    CFHR42  F13B2  CFHR22  CFHR52  CFHR32  CFHR12  
    6 SIMAP similar genes for CFH using alignment to 4 protein entries:     CFAH_HUMAN (see all proteins):
    HF    CFHR3    CFHR1    CFHR2    CFHR5    CFHR4

    CFH for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CFH (see all 2625)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1494746081,2,,4
    C,FHemolytic uremic syndrome atypical 1 (AHUS1)4 --203250131(+) TATCAG/TTATGG 2 Q H mis12Minor allele frequency- T:0.00NA EU 5873
    rs1459757871,2,,4
    C,FHemolytic uremic syndrome atypical 1 (AHUS1)4 --203250148(+) AGTTAC/TGTACA 2 T M mis12Minor allele frequency- T:0.00NA EU 5873
    rs4608971,2,,4
    C,F,A,HHemolytic uremic syndrome atypical 1 (AHUS1)4 other1203256633(-) TTCTCG/AAATAA 2 /S /L mis1 ese35Minor allele frequency- A:0.31MN NS NA 368
    rs4601841,2,,4
    C,F,A,HHemolytic uremic syndrome atypical 1 (AHUS1)4 pathogenic1203256651(-) ATTCAA/GCTGAT 2 A V mis15Minor allele frequency- G:0.23NS NA 290
    VAR_0319864
    Hemolytic uremic syndrome atypical 1 (AHUS1)4--see VAR_0319862 F S mis40--------
    VAR_0258714
    Hemolytic uremic syndrome atypical 1 (AHUS1)4--see VAR_0258712 Y F mis40--------
    VAR_0258724
    Hemolytic uremic syndrome atypical 1 (AHUS1)4--see VAR_0258722 C R mis40--------
    VAR_0258704
    Hemolytic uremic syndrome atypical 1 (AHUS1)4--see VAR_0258702 W C mis40--------
    VAR_0194074
    Hemolytic uremic syndrome atypical 1 (AHUS1)4--see VAR_0194072 L R mis40--------
    VAR_0258734
    Complement factor H deficiency (CFHD)4--see VAR_0258732 Q E mis40--------

    HapMap Linkage Disequilibrium report for CFH (196621008 - 196716634 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CFH (see all 54):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv86e199CNV Deletion23128226
    esv1001500CNV Deletion20482838
    dgv54e201CNV Deletion23290073
    nsv471393CNV Duplication19718026
    esv1247490CNV Insertion17803354
    nsv872981CNV Loss21882294
    nsv872972CNV Loss21882294
    nsv872963CNV Loss21882294
    dgv495n71CNV Loss21882294
    dgv503n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): CFH
    Locus Specific Mutation Databases (LSDB): CFH

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers 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

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    OMIM gene information: 134370   
    OMIM disorders: 235400  609814  610698  126700  
    UniProtKB/Swiss-Prot: CFAH_HUMAN, P08603
  • Basal laminar drusen (BLD) [MIM:126700]: 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. Note=The gene represented in this
    entry is involved in disease pathogenesis
  • 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. Note=The disease is caused by mutations affecting the
    gene represented in this entry
  • Hemolytic uremic syndrome atypical 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=Disease susceptibility is associated with variations affecting the gene represented in this entry.
    Other genes may play a role in modifying the phenotype
  • Macular degeneration, age-related, 4 (ARMD4) [MIM:610698]: A form of age-related macular degeneration, 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
    that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch
    membrane. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry

  • Selected diseases for CFH (see all 103):    
    About MalaCards
    spirochetes disease    complement factor h deficiency    retinal drusen    cfh-related dense deposit disease / membranoproliferative glomerulonephritis type ii
    hemolytic-uremic syndrome    age-related macular degeneration 4    hemolytic uremic syndrome, atypical 1    cfh-related atypical hemolytic-uremic syndrome
    brain oligodendroglioma    nephrotic syndrome, type 7    dense deposit disease/membranoproliferative glomerulonephritis type ii    doyne honeycomb retinal dystrophy
    meningococcal meningitis    membranoproliferative glomerulonephritis    atypical hemolytic-uremic syndrome    dense deposit disease
    lyme disease    multifocal choroiditis    kuhnt-junius degeneration    relapsing fever

    7 diseases from the University of Copenhagen DISEASES database for CFH:
    Age related macular degeneration     hemolytic-uremic syndrome     Kuhnt-Junius degeneration     Blindness
    Retinal drusen     Glomerulonephritis     Thrombotic thrombocytopenic purpura

    CFH for disorders           About GeneDecksing

    Selected Novoseek inferred 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
    GeneReviews: CFH
    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)
    About This Section

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    PubMed articles for CFH gene, integrated from 10 sources (see all 755):
    (articles sorted by number of sources associating them with CFH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (Hum. Mol. Genet. 2003)
    2. Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. (PubMed id 10577907)1, 2, 4, 9 Ying L.... Landau D. (Am. J. Hum. Genet. 1999)
    3. Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. (PubMed id 20513133)1, 2, 4, 9 Maga T.K.... Smith R.J.H. (Hum. Mutat. 2010)
    4. 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. (Proc. Natl. Acad. Sci. U.S.A. 2005)
    5. Complement factor H polymorphism in age-related macular degeneration. (PubMed id 15761122)1, 2, 4, 9 Klein R.J.... Hoh J. (Science 2005)
    6. 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. (Am. J. Hum. Genet. 2005)
    7. Complement factor H polymorphism and age-related macular degeneration. (PubMed id 15761121)1, 2, 4 Edwards A.O....Farrer L.A. (Science 2005)
    8. 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. (Science 2005)
    9. 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. (J. Med. Genet. 2003)
    10. The complete amino acid sequence of human complement factor H. (PubMed id 2963625)1, 2, 3 Ripoche J.... Sim R.B. (Biochem. J. 1988)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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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, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CFH Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CFH Genetics and Cytogenetics in Oncology and Haematology
    CFHbasehttp://bioinf.uta.fi/CFHbase/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CFH[genesymbol]
    SeattleSNPshttp://pga.gs.washington.edu/data/cfh/

    (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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