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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CFHR2 Gene

protein-coding   GIFtS: 50
GCID: GC01P196789

complement factor H-related 2

(Previous name: H factor (complement)-like 3 )
(Previous symbols: HFL3, CFHL2)
 Explore 7 diseases affiliated with
CFHR2 via our new
 Human Malady Compendium 
Biological research products
for CFHR2
    

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

Aliases
Complement Factor H-Related 21 2     H Factor-Like Protein 22 3
CFHL21 2 3 5     DDESK592 3
FHR21 2 3 5     FHR-22 3
HFL31 2 3 5     Complement Factor H-Related Protein 22
H Factor (Complement)-Like 31 2     Factor H-Related Gene 22
H Factor-Like 32 3     

External Ids:    HGNC: 48901   Entrez Gene: 30802   Ensembl: ENSG000000809107   OMIM: 6008895   UniProtKB: P369803   

Export aliases for CFHR2 gene to outside databases

Previous GC identifers: GC01P195179 GC01P168070


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

UniProtKB/Swiss-Prot: FHR2_HUMAN, P36980
Function: Might be involved in complement regulation. Can associate with lipoproteins and may play a role in lipid
metabolism

Gene Wiki entry for CFHR2


(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 CFHR2 gene promoter:
         MEF-2A   NF-AT4   NF-AT2   Zic1   NF-AT3   aMEF-2   NF-AT1   NF-AT   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCFHR2 promoter sequence
   Search SABiosciences Chromatin IP Primers for CFHR2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CFHR2


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

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

CFHR2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CFHR2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P196789:  view genomic region     (about GC identifiers)

Start:
196,788,898 bp from pter      End:
196,928,356 bp from pter
Size:
139,459 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: FHR2_HUMAN, P36980 (See protein sequence)
Recommended Name: Complement factor H-related protein 2 precursor  
Size: 270 amino acids; 30651 Da
Subcellular location: Secreted
Secondary accessions: Q14310 Q5T9T1
Alternative splicing: 2 isoforms:  P36980-1   P36980-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CFHR2: NX_P36980

Post-translational modifications:

  • N-glycosylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P36980

  • CFHR2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005657.1  
    ENSEMBL proteins: 
     ENSP00000356385   ENSP00000356391  

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    Uscn Proteins for CFHR2

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--


    CFHR2 for ontologies           About GeneDecksing



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

    CFHR2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR000436 Sushi_SCR_CCP

    Graphical View of Domain Structure for InterPro Entry P36980

    ProtoNet protein and cluster: P36980

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

    UniProtKB/Swiss-Prot: FHR2_HUMAN, P36980
    Similarity: Contains 4 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: FHR2_HUMAN, P36980
    Function: Might be involved in complement regulation. Can associate with lipoproteins and may play a role in lipid
    metabolism

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    1 GenomeRNAi human phenotype for CFHR2:
     Decreased viability of wild-ty 


    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CFHR2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for CFHR2 (P369803 ENSP000003563854) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATG12O948173I2D: score=1 
    SERBP1ENSP000003600344STRING: ENSP00000360034
    About this table

    (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

    CFHR2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CFHR2
    1 Novoseek chemical compound relationship for CFHR2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    heparin 34.8 1 10408366 (1)

    Search CenterWatch for drugs/clinical trials and news about CFHR2 / FHR2 

    (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,
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    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 CFHR2 gene: 
    NM_005666.2  

    Unigene Cluster for CFHR2:

    Complement factor H-related 2
    Hs.632450  [show with all ESTs]
    Unigene Representative Sequence: BG567998
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367415(uc001gtq.1 uc001gtr.1) ENST00000485647 ENST00000476712
    ENST00000489703 ENST00000496448 ENST00000473386 ENST00000367421

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    hsa-miR-3662
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    Inhib. RNA
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CFHR2 
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    Additional cDNA sequence: 

    BC022283.1 X64877.1 

    9 DOTS entries:

    DT.452545  DT.92463750  DT.95211982  DT.100828430  DT.92463769  DT.92463783  DT.121361166  DT.92463758 
    DT.92463773 

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

    AX772812 AV681761 CB122245 CB123026 AV681564 BG562869 AV681655 BG533248 
    BG563181 AV688058 BG618672 BG567040 BG564330 BG566607 AV683459 BG616866 
    CB157665 BG565462 BG563738 BG564962 T67925 BG617178 X64877 AV685061 

    GeneLoc Exon Structure


    (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

    CFHR2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTAATATCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See CFHR2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CFHR2

    SOURCE GeneReport for Unigene cluster: Hs.632450

    UniProtKB/Swiss-Prot: FHR2_HUMAN, P36980
    Tissue specificity: Expressed by the liver and secreted in plasma

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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CFHR2
    In Situ
    Assay Products:
     

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for CFHR2

    (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 CFHR2 gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    9(a)
    1 → many
    8(2667080-2699650)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    --
    6(a)
    17(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    GL343440.1(798097-825141)
    GL343432.1(118490-172091)
    zebrafish
    (Danio rerio)
    Actinopterygii CR759867.16
    CR352286.16
    (see all 12)
    --


    (see all 12)
    possible ortholog
    possible ortholog
    (see all 12)
    19(45630467-45650934)
    19(45874989-46606132)
    worm
    (Caenorhabditis elegans)
    Secernentea T07H6.46
    Protein T07H6.4
    4(a)
    possible ortholog
    X(6281881-6286136)


    ENSEMBL Gene Tree for CFHR2 (if available)
    TreeFam Gene Tree for CFHR2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CFHR2 gene
    F13B2  CFHR42  APOH2  CFHR52  CFH2  CFHR32  CFHR12  
    7 SIMAP similar genes for CFHR2 using alignment to 1 protein entry:     FHR2_HUMAN:
    CFHR1    CFH    CFHR5    HF    CFHR3    CFHR4
    FHR4

    CFHR2 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

    10/398 NCBI SNPs in CFHR2 are shown (see all 398    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1877437991,2
    --196910954(+) TCGGAA/GAAGTG 1 -- us2k10--------
    rs94276481,2
    C,F,--196911048(+) cccttG/Acactt 1 -- us2k16Minor allele frequency- A:0.45NA WA CSA 11
    rs1384635621,2
    --196911074(+) GCCCCA/GCCCAG 1 -- us2k10--------
    rs1160809071,2
    F,--196911083(+) AGTTTC/TGGCTC 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1857350731,2
    C--196911100(+) CATGTG/TCTGCA 1 -- us2k10--------
    rs1927367861,2
    --196911229(+) GAGCGA/GTGACC 1 -- us2k10--------
    rs1841271301,2
    --196911258(+) GACACA/GCTCTG 1 -- us2k10--------
    rs1398011671,2
    --196911301(+) ATTTAC/TTTGCA 1 -- us2k10--------
    rs1125114571,2
    --196911341(+) ACAGAT/AAGAAA 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1444894601,2
    --196911347(+) AGAAAG/TAAAGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CFHR2 (196788898 - 196928356 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 16 variations for CFHR2
         15/16 CNVs (see all 16): 34422 84768 43700 30449 70901 31680 3325 34583 34751 74846 2343 53979 8343 53605 2055
    Human Gene Mutation Database (HGMD): CFHR2

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

    CFHR2 for disorders           About GeneDecksing

    OMIM gene information: 600889    OMIM disorders: --

    7 diseases for CFHR2:    About MalaCards
    kuhnt-junius degeneration    hemolytic-uremic syndrome    atypical hemolytic-uremic syndrome    age related macular degeneration
    macular degeneration    hepatitis b    hepatitis

    Human Genome Epidemiology (HuGE) Navigator: CFHR2 (4 documents)

    Export disorders for CFHR2 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

    PubMed articles for CFHR2 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with CFHR2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human factor H-related gene 2 (FHR2): structure and linkage to the coagulation factor XIIIb gene. (PubMed id 7672821)1, 2, 3, 9 Skerka C.... Zipfel P.F. (1995)
    2. Two additional human serum proteins structurally related to complement factor H. Evidence for a family of factor H-related genes. (PubMed id 1533657)1, 2, 3 Skerka C.... Zipfel P.E. (1992)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Complement factor H and related proteins: an expanding family of complement-regulatory proteins? (PubMed id 8172644)1, 2 Zipfel P.F. and Skerka C. (1994)
    6. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    7. New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (2010)
    8. Epidemiological approach to identifying genetic predi spositions for atypical hemolytic uremic syndrome. (PubMed id 20059470)1 Sullivan M....Neumann H.P. (2010)
    9. Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218)2 Chen R.... Zou H. (2009)
    10. The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration. (PubMed id 18541031)1 Zhang H....Deangelis M.M. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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
    Entrez Gene: 3080 HGNC: 4890 AceView: CFHL2 Ensembl:ENSG00000080910 euGenes: HUgn3080
    ECgene: CFHR2 H-InvDB: CFHR2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CFHR2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CFHR2 gene:
    Search GeneIP for patents involving CFHR2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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