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FANCF Gene

protein-coding   GIFtS: 56

GC11M022600
Fanconi anemia, complementation group F
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
FAF 1, 2
MGC126856 2
Descriptions
Fanconi anemia, complementation group F 2
Protein FACF 3
External Ids
HGNC: 35871
Entrez Gene: 21882
UniProtKB: Q9NPI83
Ensembl: ENSG000001831617
Search outside databases for aliases for FANCF gene

Previous GC identifers: GC11M024061 GC11M023445 GC11M022683 GC11M022608

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for FANCF:
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 F. [provided by RefSeq]

UniProtKB/Swiss-Prot: FANCF_HUMAN, Q9NPI8
Function: DNA repair protein that may operate in a postreplication repair or a cell cycle
checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance
of normal chromosome stability (By similarity)

Gene Wiki entry for FANCF

(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 FANCF gene  

Entrez Gene cytogenetic band: 11p15   Ensembl cytogenetic band:  11p14.3   HGNC cytogenetic band: 11p15

FANCF 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 11         GeneLoc Exon Structure

GeneLoc location for GC11M022600:     (about GC identifiers)

Start:
22,600,655 bp from pter
End:
22,603,963 bp from pter
Size:
3,309 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000011.8  NT_009237.17  
(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)
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UniProtKB/Swiss-Prot: FANCF_HUMAN, Q9NPI8 (See protein sequence)
Recommended Name: Fanconi anemia group F protein  
Size: 374 amino acids; 42254 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
Subcellular location: Nucleus
PDB structures from and Proteopedia :
2IQC (3D)    
Secondary accessions: Q52LM0

REFSEQ proteins: NP_073562.1  

ENSEMBL proteins: 
ENSP00000330875 


Human Recombinant Proteins 
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Recombinant Proteins from Abcam (FANCF)
Human Recombinant Proteins from Abnova (FANCF)
                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 IDQualified GO termEvidencePubMed IDs
GO:0005575 cellular_component ND--
GO:0005634 nucleus IEA--
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Antibodies for FANCF: 
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Antibodies from Abcam (FANCF), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (FANCF)
Novus Biologicals Antibody for FANCF

Assays for FANCF: 
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)
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ProtoNet protein and cluster: Q9NPI8

(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.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (FANCF)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_022725

              Applied Biosystems Silencer® siRNAs for FANCF

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

Clones:Invitrogen Clones for FANCF
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_022725
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_022725
                                 untagged cDNA clone in CMV expression vector: NM_022725 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_022725

UniProtKB/Swiss-Prot: FANCF_HUMAN, Q9NPI8
Function: DNA repair protein that may operate in a postreplication repair or a cell cycle
checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance
of normal chromosome stability (By similarity)

Genatlas biochemistry entry for FANCF:
putative RNA binding protein,highly homolog to the prokaryotic RNA-binding protein ROM,intronless

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 IPI11063725
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(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 FANCF (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  FANCF for the pathways selected above  
About GeneDecksing

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

   GeneDecks  FANCF for the pathways selected above  
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 Gene Network CentralTM Interacting Genes and Proteins Network for  FANCF 


5/29 Interacting proteins for FANCF (Q9NPI81, 2 ENSP000003308753) via UniProtKB, MINT, and/or STRING (see all 29 )
InteractantInteraction Details
GeneCardExternal ID(s)
FANCGO152872, ENSP000003679103MINT-19449 MINT-19448 STRING (score=.999)
FANCAO153601, ENSP000003739523EBI-81589, EBI-81570 STRING (score=.999)
FANCEQ9HB962, ENSP000002297693MINT-45826 STRING (score=.999)
MARK3P274482MINT-63628
OLFM2O958972MINT-63328
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3 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--
GO:0008150 biological_process ND--
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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 FANCF

(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 (FANCF)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_022725

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

Applied Biosystems Silencer® siRNAs: 

NM_022725  

REFSEQ mRNAs for FANCF gene: 

NM_022725.3   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_022725  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_022725
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_022725
                                 untagged cDNA clone in CMV expression vector: NM_022725 

Additional cDNA sequence: 

AF181994.1 AF181995.1 AK001716.2 AK023153.1 AK223277.1 BC017792.1 BC035346.1 BC047028.1 
BC063038.1 BC093867.1 BC101807.1 BX640996.1 CR603993.1 

7 DOTS entries:

DT.408917  DT.120707290  DT.75192878  DT.95164586  DT.95164585  DT.100661874  DT.99946085 

highest scoring ESTs for FANCF:

AI766126 AA173346 AA347083 AA973733 AF181994 AF181995 AI695012 AI739046 AK001716 AK023153 

Unigene Cluster for FANCF:

Fanconi anemia, complementation group F
Hs.713574  [show with all ESTs]
Unigene Representative Sequence: NM_022725


GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:
ENST00000327470  
(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

FANCF expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for FANCF

1 / 2 / 3

7 probe-sets matching FANCF gene


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

56843_at2, 3 U95-B 1 1.00 1.00 0.80 1.02 AI766126 1.00 1.00 1.00 1
57674_at2, 3 U95-C 1 1.00 1.00 0.96 0.91 AI978840 0.60 1.00 0.82 1

80474_at2, 3 U95-E 1 1.00 1.00 0.81 1.08 AW014037 0.80 1.00 0.91 1

222713_s_at2, 3 U133-B 1 1.00 1.00 -- -- AF181995 0.80 1.00 0.91 1

218689_at2, 3 U133-A 1 1.00 1.00 -- -- NM_022725 0.60 1.00 0.82 1

222713_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

218689_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  FANCF 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: AAGGCCATCT

SOURCE GeneReport for Unigene cluster: Hs.713574
(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 FANCF gene from 5/6 species (see all 6 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
chimpanzee
(Pan troglodytes)
FANCF1   -- Fanconi anemia, complementation group F 99.2(n)
98.4(a)
749534  XM_001169698.1  XP_001169698.1 
cow
(Bos taurus)
FANCF1   -- Fanconi anemia, complementation group F 80.71(n)
74.44(a)
539681  XM_588722.3  XP_588722.3 
rat
(Rattus norvegicus)
Fancf1   -- Fanconi anemia, complementation group F 61.06(n)
56.05(a)
499155  XM_574453.2  XP_574453.2 
mouse
(Mus musculus)
Fancf1, 5 75
Fanconi anemia, complementation group F1, 5 60.26(n)1
52.37(a)1
1000406081  XM_001474977.11  XP_001475027.11 
 AK0425505  AK0426885  (see all 7)
chicken
(Gallus gallus)
FANCF1   -- Fanconi anemia, complementation group F 52.24(n)
40.94(a)
770997  XM_001234314.1  XP_001234315.1 
About this table        Species with no ortholog for FANCF

ENSEMBL Gene Tree for FANCF
(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


10/53 NCBI SNPs in FANCF are shown (see all 53 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 35)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 11 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs37406151,2
A,C,F,H22603942(-) GCCTTC/TGCGCA 1 -- ut51 tfbs323Minor allele frequency- T:0.16EA NA EU WA NS 3174
rs71123451,2
A,C,F,H22605382(+) AATTCA/GTTTAT 1 -- ng3111Minor allele frequency- G:0.17EU EA WA NS 754
rs71090871,2
A,C,F,H22605583(+) AGGTCT/CCTTTA 1 -- ng318Minor allele frequency- C:0.18EU EA WA NA 636
rs4448791,2
C,F,H,O22600503(+) AATACG/ATAAGA 1 -- ng5116Minor allele frequency- A:0.05EU EA WA NA NS 1110
rs44425511,2
A,C,F,H22605419(+) GATACA/GTAGTA 1 -- ng319Minor allele frequency- G:0.17EU EA WA NS 568
rs4449231,2
A,C,F,H22602176(+) ATATTT/CGTATT 1 -- ut3117Minor allele frequency- C:0.02MN EU EA WA NA NS 1346
rs44471771,2
A,C,F,H22602601(+) GTGGAA/GTACTT 1 -- ut3117Minor allele frequency- G:0.27EU EA WA NA NS 1236
rs3777191,2
C,F,H22600181(+) ATATGA/GTAAGT 1 -- ng519Minor allele frequency- G:0.03EU EA WA NS 548
rs37406141,2
C,F,H22604126(-) CTTTGT/CGTGGC 1 -- ng3113Minor allele frequency- C:0.13EU EA WA NS 984
rs169097821,2
C,F,H22602702(+) CATCTA/GAAATA 1 -- ut3116Minor allele frequency- G:0.03NA EU EA WA NS 1154
About this table

HapMap Linkage Disequilibrium images for FANCF (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.)
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OMIM: 603467

UniProtKB/Swiss-Prot: FANCF_HUMAN, Q9NPI8

  • Defects in FANCF 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
  • 9 Novoseek disease relationships for FANCF gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    fanconis anemia 95.32 6 16466850 (1), 12239156 (1), 12351379 (1), 15262960 (1) (see all 6)
    hnscc 55.01 6 16466850 (3), 14647419 (2), 17409780 (1)
    anemia 43.24 3 12001267 (1), 10615118 (1), 14617007 (1)
    cancer 39.64 2 18607065 (1), 12351379 (1)
    leukemia 23.97 2 16803569 (2)
    ovarian cancer 22.68 11 16418574 (7), 14647419 (1)
    breast cancer 18.39 4 17932744 (2), 14695169 (1)
    primary tumor 9.27 1 14647419 (1)
    tumors 5.54 6 19236379 (1), 16418574 (1), 18000367 (1), 17932744 (1)
    About this table

    GeneTests: FANCF
    Fanconi Anemia

    Human Gene Mutation Database: FANCF
    Human Genome Epidemiology Navigator: FANCF (4 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

    10/60 PubMed articles for FANCF gene (see all 60 ):
    (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: 2188 HGNC: 3587 Ensembl:ENSG00000183161 euGenes: HUgn2188 ECgene: FANCF
    H-InvDB: FANCF
    (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 FANCF Genetics and Cytogenetics in Oncology and Haematology
    Fanconi Anemia Mutation Databasehttp://www.rockefeller.edu/fanconi/mutate/jumpf.html
    GeneReviewshttp://www.genetests.org/query?gene=FANCF
    NIEHS-SNPshttp://egp.gs.washington.edu/data/fancf/
    (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 FANCF:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     "Your Favorite Gene" Pathwaysfeedback


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

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