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Aliases & Descriptions for FANCE
(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 |
|
| | Search outside databases for aliases for FANCE genePrevious GC identifers: GC06P035422 GC06P035466 |
Summaries for FANCE(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, Q9HB96Function: Required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2Gene Wiki entry for FANCE |
Genomic Location 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-p21FANCE 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
| Proteins for FANCE
(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: Q4ZGH2Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_068741.1
ENSEMBL proteins: ENSP00000229769
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
1 Gene Ontology (GO) cellular component term (links to tree view): About this table
Antibodies for FANCE: Assays for FANCE: | Protein
Domains/ Families for FANCE(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q9HB96 | Gene Function for FANCE
(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
|               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 
              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, Q9HB96Function: Required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD22 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for FANCE
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 1 Sigma-Aldrich "Your Favorite Gene" Pathway for FANCE (Your Favorite Gene powered by Ingenuity) 
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
)About this table
2 Gene Ontology (GO) biological process terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006281 | DNA repair |
IEA | -- | | GO:0006974 | response to DNA damage stimulus |
IEA | -- | About this table
|
Drugs & Compounds for FANCE(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 Tocris compounds for FANCE
|
Transcripts 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
|               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
|
Expression for FANCE
(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 Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TATATTATGA
SOURCE GeneReport for Unigene cluster: Hs.302003
|
Orthologs for FANCE
(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
)
About this table Species with no ortholog for FANCE
ENSEMBL Gene Tree for FANCE | Paralogs for FANCE(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for FANCE(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for FANCE (up to first 250kb)
|
Disorders & Mutations for FANCE
(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 repair5 Novoseek disease relationships for FANCE gene
About this table
GeneTests: FANCE Fanconi Anemia Human Gene Mutation Database: FANCE Human Genome Epidemiology Navigator: FANCE (2 documents)
|
Medical News for FANCE(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for FANCE (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
):- Isolation of a cDNA representing the Fanconi anemia complementation group E gene. (PubMed id 11001585)1, 2, 3, 4 de Winter J.P....Joenje H. (2000)
- A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. (PubMed id 16116422)3, 4 Meetei A.R....Wang W. (2005)
- X-linked inheritance of Fanconi anemia complementation group B. (PubMed id 15502827)3, 4 Meetei A.R....Joenje H. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Fanconi anemia protein complex: mapping protein interactions in the yeast 2- and 3-hybrid systems. (PubMed id 12649160)3, 4 Gordon S.M. and Buchwald M. (2003)
- The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)3, 4 Mungall A.J.... Beck S. (2003)
- A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome. (PubMed id 12724401)3, 4 Meetei A.R.... Wang W. (2003)
- FANCE: the link between Fanconi anaemia complex assembly and activity. (PubMed id 12093742)3, 4 Pace P.... Patel K.J. (2002)
- Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype. (PubMed id 7662964)2, 3 Joenje H....Arwert F. (1995)
- The nuclear accumulation of the Fanconi anemia protein FANCE depends on FANCC. (PubMed id 16513431)1, 3 Leveille F....de Winter J.P. (2006)
|
Search for FANCE
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing FANCE
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing FANCE
(According to HUGE)
About This Section
| -- |
Specialized Databases showing FANCE(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| ATLAS Chromosomes in Cancer entry for FANCE | Genetics and Cytogenetics in Oncology and Haematology | | Fanconi Anemia Mutation Database | http://www.rockefeller.edu/fanconi/mutate/jumpe.html | | GeneReviews | http://www.genetests.org/query?gene=FANCE | | NIEHS-SNPs | http://egp.gs.washington.edu/data/fance/ |
|
| | | About This Section
| --
| Services for FANCE(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:

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Incremental update: 13 Oct 2009
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