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FANCE Gene

protein-coding   GIFtS: 57

GC06P035528
Fanconi anemia, complementation group E
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: FACE)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
FACE 2, 3, 5
FAE 1, 2
OTTHUMP00000016254 2
Descriptions
Fanconi anemia, complementation group E 2
Protein FACE 3
External Ids
HGNC: 35861
Entrez Gene: 21782
UniProtKB: Q9HB963
Ensembl: ENSG000001120397
Search outside databases for aliases for FANCE gene

Previous GC identifers: GC06P035422 GC06P035466

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

EntrezGene summary for FANCE:
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1
(also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM
and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi
anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability,
hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA
repair. The members of the Fanconi anemia complementation group do not share sequence similarity;
they are related by their assembly into a common nuclear protein complex. This gene encodes the
protein for complementation group E. [provided by RefSeq]

UniProtKB/Swiss-Prot: FANCE_HUMAN, Q9HB96
Function: Required for the nuclear accumulation of FANCC and provides a critical bridge between the
FA complex and FANCD2

Gene Wiki entry for FANCE

(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 FANCE gene  

Entrez Gene cytogenetic band: 6p22-p21   Ensembl cytogenetic band:  6p21.31   HGNC cytogenetic band: 6p22-p21

FANCE 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 6         GeneLoc Exon Structure

GeneLoc location for GC06P035528:     (about GC identifiers)

Start:
35,528,116 bp from pter
End:
35,542,859 bp from pter
Size:
14,744 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000006.10  NT_007592.14  
(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: FANCE_HUMAN, Q9HB96 (See protein sequence)
Recommended Name: Fanconi anemia group E protein  
Size: 536 amino acids; 58711 Da
Subunit: Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF,
FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients. Interacts with FANCC and
FANCD2
Subcellular location: Nucleus
PDB structures from and Proteopedia :
2ILR (3D)    
Secondary accessions: Q4ZGH2

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_068741.1  

    ENSEMBL proteins: 
    ENSP00000229769 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (FANCE)
    Human Recombinant Proteins from Abnova (FANCE)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    1 Gene Ontology (GO) cellular component term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus NAS11001585
    About this table

    Antibodies for FANCE: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
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    Antibodies from Abcam (FANCE), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (FANCE)
    Novus Biologicals Antibodies for FANCE

    Assays for FANCE: 
    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

    ProtoNet protein and cluster: Q9HB96

    (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 (FANCE)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_021922

                  Applied Biosystems Silencer® siRNAs for FANCE

                  Sigma-Aldrich siRNA for FANCE  
                         Sigma-Aldrich shRNA Panels and shRNA for FANCE  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for FANCE
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_021922
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_021922
                                     untagged cDNA clone in CMV expression vector: NM_021922 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_021922

    UniProtKB/Swiss-Prot: FANCE_HUMAN, Q9HB96
    Function: Required for the nuclear accumulation of FANCC and provides a critical bridge between the
    FA complex and FANCD2

    2 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674 molecular_function ND--
    GO:0005515 protein binding IPI12093742
    About this table

    (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

    3 Invitrogen iPath™ Online BioAtlas - Pathways for FANCE (Maps provided by GeneGo):
     ATM/ATR regulation of G1/S checkpoint
     Role of Brca1 and Brca2 in DNA repair
     ATM/ATR regulation of G2/M checkpoint

       GeneDecks  FANCE for the pathways selected above  
    About GeneDecksing

    1 Sigma-Aldrich "Your Favorite Gene" Pathway for  FANCE  (Your Favorite Gene powered by Ingenuity) 
     Role of BRCA1 in DNA Damage Response

       GeneDecks  FANCE for the pathways selected above  
    About GeneDecksing

     Gene Network CentralTM Interacting Genes and Proteins Network for  FANCE 


    5/20 Interacting proteins for FANCE (Q9HB961, 2 ENSP000002297693) via UniProtKB, MINT, and/or STRING (see all 20 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FANCCQ005972, ENSP000003644543MINT-19451 MINT-19450 STRING (score=.999)
    FANCAO153602, ENSP000003739523MINT-45825 STRING (score=.999)
    FANCFQ9NPI82, ENSP000003308753MINT-45826 STRING (score=.999)
    FANCGO152872, ENSP000003679103MINT-45827 STRING (score=.999)
    FANCD2Q9BXW91, 2, ENSP000002876473EBI-396803, EBI-359343 MINT-19474 MINT-45828 MINT-19475 MINT-5206796 EBI-396803, EBI-359343 MINT-19474 MINT-45828 MINT-19475 MINT-5206796 STRING (score=.999)
    About this table

    2 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281 DNA repair IEA--
    GO:0006974 response to DNA damage stimulus IEA--
    About this table
    (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 FANCE

    (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 (FANCE)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_021922

                  Sigma-Aldrich siRNA for FANCE  
                         Sigma-Aldrich shRNA Panels and shRNA for FANCE  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_021922  

    REFSEQ mRNAs for FANCE gene: 

    NM_021922.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_021922  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_021922
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_021922
                                     untagged cDNA clone in CMV expression vector: NM_021922 

    Additional cDNA sequence: 

    AF265210.1 AK292522.1 AK312617.1 BC046359.1 CR605350.1 

    2 DOTS entries:

    DT.75179684  DT.95374718 

    24/39 AceView cDNA sequences (see all 39 ):

    BI060903 BI060775 BC046359 AF265210 CR605350 BU154023 NM_021922 BQ437572 
    CB144916 BI061089 BX390433 AL549594 BX356757 BG254606 BX334386 BI222328 
    BI061019 AW028850 BX334387 BQ379868 AL571980 BX371735 BI060879 BQ187778 

    highest scoring ESTs for FANCE:

    AA542822 AF265210 AW028850 BC046359 BF893803 BF921939 BG115215 BG254606 BG992974 BI060751 

    Unigene Cluster for FANCE:

    Fanconi anemia, complementation group E
    Hs.302003  [show with all ESTs]
    Unigene Representative Sequence: BC046359


    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for FANCE

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b
    SP1:                          -                                               -                     
    SP2:                          -     -                                         -                     
    SP3:                                                                                                
    SP4:                                                                                                

    About this scheme

    ECgene alternative splicing isoforms for FANCE

    1 Ensembl transcript including schematic representation:
    ENST00000229769  
    (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

    FANCE expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for FANCE

    1 / 2 / 3

    2 probe-sets matching FANCE gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    220255_at2, 3 U133-A 1 1.00 1.00 -- -- NM_021922 0.60 1.00 0.82 1

    220255_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TATATTATGA

    SOURCE GeneReport for Unigene cluster: Hs.302003
    (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 FANCE gene from 5/7 species (see all 7 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    FANCE1   -- Fanconi anemia, complementation group E 84.29(n)
    79.39(a)
    608172  XM_845108.1  XP_850201.1 
    chimpanzee
    (Pan troglodytes)
    FANCE1   -- Fanconi anemia, complementation group E 99.25(n)
    98.88(a)
    747546  XM_001172322.1  XP_001172322.1 
    cow
    (Bos taurus)
    FANCE1   -- Fanconi anemia, complementation group E 83.36(n)
    77.94(a)
    513464  XM_591147.3  XP_591147.3 
    rat
    (Rattus norvegicus)
    Fance1   -- Fanconi anemia, complementation group E 75.77(n)
    67.78(a)
    309643  XM_228032.4  XP_228032.4 
    mouse
    (Mus musculus)
    Fance1, 5 175
    Fanconi anemia, complementation group E1, 5 74.52(n)1
    66.48(a)1
    727751  XM_986338.21  XP_991432.11 
     AI4156345  AI5042545  (see all 28)
    About this table        Species with no ortholog for FANCE

    ENSEMBL Gene Tree for FANCE
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

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


    10/136 NCBI SNPs in FANCE are shown (see all 136 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 61)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 6 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs77589781,2
    A,C,F,H35526420(+) agcttG/Ctggaa 1 -- ng518Minor allele frequency- C:0.45EU EA WA 838
    rs69076781,2
    A,C,F,H35526932(+) CTCCTC/TTCTGT 1 -- ng514Minor allele frequency- T:0.44EU EA WA 396
    rs94620881,2
    C,F,H35538664(+) ATCAGG/ACTAAC 1 T/A mis1 ese320Minor allele frequency- A:0.17EU EA WA NA NS 1554
    --
    rs77618701,2
    C,F,H35531864(+) GGACTC/TAGAGG 1 S/L mis1 ese313Minor allele frequency- T:0.05EU EA WA NS 1002
    rs47138691,2
    C,H35538623(+) CATGGC/GCTATG 1 A/G mis1 ese35Minor allele frequency- G:0.00EU EA WA 586
    --
    rs168761561,2
    F35527380(+) GAGGCA/GCTGTG 1 -- ng512Minor allele frequency- G:0.02MN EA 356
    --
    rs454516051,2
    F35531989(+) ATGGAGGA/-AGTGC 1 S/GS fra15Minor allele frequency- -:0.02NS 190
    rs38234341,2
    C,F,H35534153(-) TTGCTG/AAGGCT 1 L/L syn1 ese314Minor allele frequency- A:0.07EU EA WA NA NS 1062
    rs47138671,2
    C,F35531640(+) GACCCC/AGATGC 1 P/P syn16Minor allele frequency- A:0.23NA NS 262
    --
    rs117594251,2
    A,C35528309(+) GCGACA/CCCGGA 1 T/T syn1 ese30--------
    About this table

    HapMap Linkage Disequilibrium images for FANCE (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: 600901

    UniProtKB/Swiss-Prot: FANCE_HUMAN, Q9HB96

  • Defects in FANCE are a cause of Fanconi anemia (FA) [MIM:227650]. FA is a genetically
    heterogeneous, autosomal recessive disorder characterized by progressive pancytopenia, a diverse
    assortment of congenital malformations, and a predisposition to the development of malignancies.
    At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal
    instability (increased chromosome breakage), and defective DNA repair
  • 5 Novoseek disease relationships for FANCE gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    fanconis anemia 94.03 7 12239156 (3), 12351379 (1), 16127171 (1), 10205272 (1) (see all 5)
    hnscc 52.19 2 17409780 (1), 16466850 (1)
    cancer 35.34 1 12351379 (1)
    anemia 23.23 2 17308347 (1), 12001267 (1)
    breast cancer 15.25 2 14695169 (1)
    About this table

    GeneTests: FANCE
    Fanconi Anemia

    Human Gene Mutation Database: FANCE
    Human Genome Epidemiology Navigator: FANCE (2 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

    10/45 PubMed articles for FANCE gene (see all 45 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     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, and/or H-InvDB)
    About This Section

    Entrez Gene: 2178 HGNC: 3586 AceView: FANCE Ensembl:ENSG00000112039 euGenes: HUgn2178
    ECgene: FANCE H-InvDB: FANCE
    (According to HUGE)
    About This Section

      --
    (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

    NameDescription
    ATLAS Chromosomes in Cancer entry for FANCE Genetics and Cytogenetics in Oncology and Haematology
    Fanconi Anemia Mutation Databasehttp://www.rockefeller.edu/fanconi/mutate/jumpe.html
    GeneReviewshttp://www.genetests.org/query?gene=FANCE
    NIEHS-SNPshttp://egp.gs.washington.edu/data/fance/
    (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 FANCE:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for FANCE Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for FANCE Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Antibodies for FANCE

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