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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FANCE Gene

protein-coding GIFtS: 56
GCID: GC06P035783

Fanconi anemia, complementation group E

(Previous symbol: FACE)

Explore 20 diseases affiliated with
FANCE via

MalaCards

our new
Human Malady Compendium

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

Aliases
Fanconi Anemia, Complementation Group E¹ ²
FACE¹ ² ³
FAE¹ ²
Fanconi Anemia Group E Protein²
Protein FACE³

External Ids:	HGNC: 3586¹	Entrez Gene: 2178²	Ensembl: ENSG00000112039⁷	OMIM: 613976⁵	UniProtKB: Q9HB96³

Export aliases for FANCE gene to outside databases

Previous GC identifers: GC06P035422 GC06P035466 GC06P035528 GC06P035140 GC06P035565

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

Entrez Gene 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, Jul 2008)

UniProtKB/Swiss-Prot: FANCE_HUMAN, Q9HB96

Function: As part of the Fanconi anemia (FA) complex functions in DNA cross-links repair. 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 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_000006.11 NC_018917.1 NT_007592.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FANCE gene promoter:
Bach1 NF-1 NF-1/L RFX1 Olf-1 E47 CREB deltaCREB ARP-1 ZID
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FANCE promoter sequence

Search SABiosciences Chromatin IP Primers for FANCE

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FANCE

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

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)
FANCE gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06P035783: view genomic region (about GC identifiers)

Start:	35,420,138 bp from pter	End:	35,434,881 bp from pter
Size:	14,744 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: 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

1 PDB 3D structure from and Proteopedia for FANCE:

2ILR (3D)

Secondary accessions: A8K907 Q4ZGH2

Explore the universe of human proteins at neXtProt for FANCE: NX_Q9HB96

Post-translational modifications:

Phosphorylated. Phosphorylation by CHEK1 at Thr-346 and Ser-374 regulates its function in DNA cross-links repair¹

Ubiquitinated. Phosphorylation by CHEK1 induces polyubiquitination and degradation¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9HB96

FANCE Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_068741.1

ENSEMBL proteins:

ENSP00000229769

Reactome Protein details: Q9HB96
Human Recombinant Protein Products for FANCE:

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	Novus Biologicals FANCE Protein Novus Biologicals FANCE Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for FANCE

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	NAS	11001585
GO:0005654	nucleoplasm	TAS	--
GO:0043240	Fanconi anaemia nuclear complex	IDA	--

FANCE for ontologies About GeneDecksing

FANCE Antibody Products:

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Assay Products for FANCE:

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	Uscn ELISAs and CLIAs for FANCE

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

FANCE for domains About GeneDecksing

1 InterPro domain/family:

IPR021025 Fanconi_anaemia_gr_E_prot_C

Graphical View of Domain Structure for InterPro Entry Q9HB96

ProtoNet protein and cluster: Q9HB96

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: FANCE_HUMAN, Q9HB96

Function: As part of the Fanconi anemia (FA) complex functions in DNA cross-links repair. Required for the nuclear

accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	ND	--
GO:0005515	protein binding	IPI	12649160

FANCE for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for FANCE:

Decreased Hepatitis C virus re

Increased gamma-H2AX phosphory

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for FANCE

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FANCE
		8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate FANCE (see all 9):
		hsa-miR-4254 hsa-miR-330-5p hsa-miR-944 hsa-miR-4299 hsa-miR-650 hsa-miR-326 hsa-miR-3165 hsa-miR-1827

		SwitchGear 3'UTR luciferase reporter plasmid: FANCE 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FANCE OriGene shRNA RFP: FANCE OriGene siRNA: FANCE
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		Sirion Biotech Custom design and validation of potent shRNA sequences against FANCE

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for FANCE
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FANCE (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FANCE OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: FANCE (NM_021922)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FANCE

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for FANCE
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		Sirion Biotech Customized stable knockdown cell line services for FANCE Sirion Biotech Customized inducible knockdown cell line services for FANCE Sirion Biotech Customized stable overexpressing cell line services for FANCE Sirion Biotech Customized inducible overexpressing cell line services for FANCE

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FANCE

(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

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Fanconi Anemia pathway

	Fanconi Anemia pathway	1.00			BARD1 signaling events	0.23
	Fanconi's Anaemia Pathway	0.43

BRCA1 Pathway

BRCA1 Pathway

1.00

Nucleotide Excision Repair

DNA Repair

0.46

Chks in Checkpoint Regulation

DNA Repair Mechanisms

0.32

Pathway sources
See GeneCards unified pathways
Show all pathways

3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for FANCE

	Fanconi's Anaemia Pathway
	BRCA1 Pathway
	DNA Repair Mechanisms

1 BioSystems Pathway for FANCE

BARD1 signaling events

2 Reactome Pathways for FANCE

	DNA Repair
	Fanconi Anemia pathway

FANCE for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for FANCE

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/38 Interacting proteins for FANCE (Q9HB96^{1, 2, 3} ENSP00000229769⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 38)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FANCA	O15360²^,³, ENSP00000373952⁴	MINT-45825 I2D: score=5 STRING: ENSP00000373952
FANCG	O15287²^,³, ENSP00000367910⁴	MINT-45827 I2D: score=5 STRING: ENSP00000367910
FANCD2	Q9BXW9¹^,²^,³, ENSP00000287647⁴	EBI-396803,EBI-359343 MINT-19474 MINT-45828 MINT-19475 MINT-5206796 I2D: score=4 STRING: ENSP00000287647
FANCC	Q00597¹^,²^,³, ENSP00000289081⁴	EBI-396803,EBI-81625 MINT-19451 MINT-19450 I2D: score=4 STRING: ENSP00000289081
FANCF	Q9NPI8²^,³, ENSP00000330875⁴	MINT-45826 I2D: score=3 STRING: ENSP00000330875

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006281	DNA repair	TAS	--

FANCE for ontologies About GeneDecksing

(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

FANCE for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for FANCE
1 Novoseek chemical compound relationship for FANCE gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
mitomycin c	55.8	1	12239156 (1)

Search CenterWatch for drugs/clinical trials and news about FANCE

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
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 FANCE gene:

NM_021922.2

Unigene Cluster for FANCE:

Fanconi anemia, complementation group E

Hs.302003 [show with all ESTs]

Unigene Representative Sequence: BC046359

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000229769(uc003oko.1 uc010jvw.1)

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FANCE
		8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate FANCE (see all 9):
		hsa-miR-4254 hsa-miR-330-5p hsa-miR-944 hsa-miR-4299 hsa-miR-650 hsa-miR-326 hsa-miR-3165 hsa-miR-1827

		SwitchGear 3'UTR luciferase reporter plasmid: FANCE 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FANCE OriGene shRNA RFP: FANCE OriGene siRNA: FANCE
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FANCE
		Sirion Biotech Custom design and validation of potent shRNA sequences against FANCE

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FANCE (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FANCE OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: FANCE (NM_021922)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for FANCE
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FANCE

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FANCE Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat FANCE
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FANCE
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FANCE

Additional cDNA sequence:

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

2 DOTS entries:

DT.75179684 DT.95374718

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

AF265210 CR605350 BI060903 NM_021922 BI060775 BC046359 BU154023 BI222328

BX356757 CB144916 BI061019 AL571980 BQ379868 BX334387 BX371735 BX390433

AW028850 AL549594 BI061089 BQ437572 BG254606 BX334386 BI060751 BI916890

GeneLoc Exon Structure

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

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

ECgene alternative splicing isoforms for FANCE

(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

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

About this image

FANCE expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See FANCE Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FANCE

SOURCE GeneReport for Unigene cluster: Hs.302003

SABiosciences Custom PCR Arrays for FANCE

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FANCE Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FANCE

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FANCE

(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 chordates.

Orthologs for FANCE gene from 4/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Fance^{1 , 5}	Fanconi anemia, complementation group E^{1, 5}	74.52(n)¹ 66.48(a)¹		17 (14.65 cM)⁵ 72775¹ NM_001163819.1¹ NP_001157291.1¹ 28313530⁵
chicken (Gallus gallus)	Aves	FANCE⁶	Uncharacterized protein	40(a)	1 ↔ 1	26(3911524-3915566)
lizard (Anolis carolinensis)	Reptilia	FANCE⁶	--	54(a)	1 ↔ 1	4(120430888-120433356)
zebrafish (Danio rerio)	Actinopterygii	fance¹	Fanconi anemia, complementation group E	48.02(n) 36.53(a)		565685 NM_001040634.1 NP_001035724.1

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(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

SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs9470028^1,2	F	--	35139001(+)	`AGGGCT/CCCTGG`	1	--	us2k¹		1		WA	118
rs77209625^1,2		--	35140028(+)	`GTTGTA/GTGACA`	1	--	us2k¹		0	--	--	--	--
rs16876156^1,2	F	--	35140176(+)	`GAGGCA/GCTGTG`	1	--	us2k¹		3		MN EA	476
rs73413798^1,2	C	--	35140497(+)	`AAGTGG/AGGTGG`	1	--	us2k¹		1		WA	2
rs4713866^1,2	F	--	35141041(+)	`TCAGCC/TTCTGA`	1	--	ut5¹ ese³		1		EA	120
rs11759425^1,2	C,A,H	--	35141105(+)	`GCGACA/CCCGGA`	2	T	syn¹ ese³		0	--	--	--	--
rs11754834^1,2	H	--	35141455(+)	`GCACCC/TTATGA`	1	--	int¹		0	--	--	--	--
rs45538031^1,2	C,F	--	35141493(+)	`CTGTGT/AGCGGG`	1	--	int¹		6		NS WA	158
rs45484291^1,2	C,F	--	35141834(+)	`TCTTGA/TTAATT`	1	--	int¹		5		NS	172
rs113086744^1,2	C	--	35142041(+)	`AGAGTG/ACAGTA`	1	--	int¹		1		WA	2

HapMap Linkage Disequilibrium report for FANCE (35420138 - 35434881 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for FANCE: --
Human Gene Mutation Database (HGMD): FANCE

Locus Specific Mutation Databases (LSDB): FANCE

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FANCE

DNA2.0 Custom Variant and Variant Library Synthesis for FANCE

(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

FANCE for disorders About GeneDecksing

OMIM gene information: 613976 OMIM disorders: --

UniProtKB/Swiss-Prot: FANCE_HUMAN, Q9HB96

Defects in FANCE are a cause of Fanconi anemia complementation group E (FANCE) [MIM:600901]. A disorder

affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with

cardiac, renal and limb malformations, dermal pigmentary changes, 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

20 diseases for FANCE: About MalaCards

fanconi's anemia anemia fanconi anemia, complementation group m fanconi anemia, complementation group b

fetal alcohol syndrome breast cancer susceptibility breast cancer sporadic breast cancer

bloom syndrome epithelial ovarian cancer familial breast cancer squamous cell carcinoma

leukopenia hereditary pancreatitis ovarian cancer alcoholism

pancreatitis psoriasis pancreatic cancer carcinoma

2 diseases from the University of Copenhagen DISEASES database for FANCE:

Bone marrow disease Anemia

5 Novoseek disease relationships for FANCE gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
fanconis anemia	94	8	12239156 (3), 12351379 (1), 16127171 (1), 10205272 (1) (see all 6)
hnscc	49.5	2	17409780 (1), 16466850 (1)
cancer	36.7	2	12351379 (1), 19861535 (1)
anemia	20.8	2	17308347 (1), 12001267 (1)
breast cancer	12.5	2	14695169 (1)

GeneTests: FANCE

Fanconi Anemia

Human Genome Epidemiology (HuGE) Navigator: FANCE (8 documents)

Export disorders for FANCE 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 FANCE gene, integrated from 9 sources (see all 74):
(articles sorted by number of sources associating them with FANCE)

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Isolation of a cDNA representing the Fanconi anemia complementation group E gene. (PubMed id 11001585)^{1, 2, 3, 9} de Winter J.P....Joenje H. (2000)
Regulation of Rev1 by the Fanconi anemia core complex. (PubMed id 22266823)^{1, 2} Kim H....D'Andrea A.D. (2012)
Chk1-mediated phosphorylation of FANCE is required for the Fanconi anemia/BRCA pathway. (PubMed id 17296736)^{1, 2} Wang X....D'Andrea A.D. (2007)
A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. (PubMed id 16116422)^{1, 2} Meetei A.R....Wang W. (2005)
X-linked inheritance of Fanconi anemia complementation group B. (PubMed id 15502827)^{1, 2} 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)^{1, 2} Gerhard D.S....Malek J. (2004)
Fanconi anemia protein complex: mapping protein interactions in the yeast 2- and 3-hybrid systems. (PubMed id 12649160)^{1, 2} Gordon S.M. and Buchwald M. (2003)
A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome. (PubMed id 12724401)^{1, 2} Meetei A.R.... Wang W. (2003)
The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)^{1, 2} Mungall A.J.... Beck S. (2003)
FANCE: the link between Fanconi anaemia complex assembly and activity. (PubMed id 12093742)^{1, 2} Pace P.... Patel K.J. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2178	HGNC: 3586	AceView: FANCE	Ensembl:ENSG00000112039	euGenes: HUgn2178
ECgene: FANCE	H-InvDB: FANCE

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for FANCE	Pharmacogenomics, SNPs, Pathways
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.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FANCE
NIEHS-SNPs	http://egp.gs.washington.edu/data/fance/

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Patent Information for FANCE gene:
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