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FANCD2 Gene

protein-coding GIFtS: 59

GC03P010043

Fanconi anemia, complementation group D2
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: FACD, FANCD)

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

Aliases
DKFZp762A223 ^²
FA-D2 ^¹, ²
FA4 ^²
FACD ^², ³, ⁵
FAD ^¹, ², ⁵
FAD2 ^²
FANCD ^², ⁵
FLJ23826 ^²

Descriptions
Fanconi anemia complementation group D2 ^²
Fanconi anemia, complementation group D2 ^²
Protein FACD2 ^³
type 4 Fanconi pancytopenia ^²

External Ids
HGNC: 3585¹
Entrez Gene: 2177²
UniProtKB: Q9BXW9³
Ensembl: ENSG00000144554⁷

Search outside databases for aliases for FANCD2 gene

Previous GC identifer: GC03P009997

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

EntrezGene summary for FANCD2:

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 D2. This protein is monoubiquinated in response to DNA damage,

resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in

homology-directed DNA repair. Alternative splicing results in two transcript variants encoding

different isoforms. [provided by RefSeq]

UniProtKB/Swiss-Prot: FACD2_HUMAN, Q9BXW9

Function: Required for maintenance of chromosomal stability. Promotes accurate and efficient

pairing of homologs during meiosis. Involved in the repair of DNA double-strand breaks, both by

homologous recombination and single-strand annealing. May participate in S phase and G2 phase

checkpoint activation upon DNA damage. Promotes BRCA2/FANCD1 loading onto damaged chromatin. May

also be involved in B-cell immunoglobulin isotype switching

Gene Wiki entry for FANCD2

(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 FANCD2 gene

Entrez Gene cytogenetic band: 3p26 Ensembl cytogenetic band: 3p25.3 HGNC cytogenetic band: 3p25.3

FANCD2 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 3 GeneLoc Exon Structure

GeneLoc location for GC03P010043: (about GC identifiers)

Start:	10,043,113 bp from pter
End:	10,118,614 bp from pter
Size:	75,502 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000003.10 NT_022517.17

(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: FACD2_HUMAN, Q9BXW9 (See protein sequence)

Recommended Name: Fanconi anemia group D2 protein

Size: 1471 amino acids; 166462 Da

Subunit: Interacts directly with FANCE and FANCI. Interacts with USP1 and MEN1. The ubiquitinated

form specifically interacts with BRCA1, BRCA2 and BLM

Subcellular location: Nucleus. Note=Concentrates in nuclear foci during S phase and upon genotoxic

stress

Developmental stage: Highly expressed in fetal oocytes, and in hematopoietic cells of the fetal

liver and bone marrow (at protein level)

Secondary accessions: Q2LA86 Q69YP9 Q6PJN7 Q9BQ06 Q9H9T9

Alternative splicing: 4 isoforms: Q9BXW9-1 Q9BXW9-2 Q9BXW9-3 Q9BXW9-4

Post-translational modifications:

Monoubiquitinated on Lys-561 during S phase and upon genotoxic stress (isoform 1 and isoform 2).

Deubiquitinated by USP1 as cells enter G2/M, or once DNA repair is completed. Monoubiquitination

requires the FANCA-FANCB-FANCC-FANCE-FANCF-FANCG-FANCM complex, RPA1 and ATR, and is mediated by

FANCL/PHF9. Ubiquitination is required for binding to chromatin, interaction with BRCA1 and BRCA2,

DNA repair, and normal cell cycle progression, but not for phosphorylation on Ser-222 or

interaction with MEN1¹

Phosphorylated in response to various genotoxic stresses by ATM and/or ATR. Upon ionizing

radiation, phosphorylated by ATM on Ser-222 and Ser-1404. Phosphorylation on Ser-222 is required

for S-phase checkpoint activation, but not for ubiquitination, foci formation, or DNA repair. In

contrast, phosphorylation by ATR on other sites may be required for ubiquitination and foci

formation¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_001018125.1 NP_149075.2

ENSEMBL proteins:

ENSP00000373317 ENSP00000287647 ENSP00000373318

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 (FANCD2)
	Browse Abnova for Human Recombinant Proteins

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005575	cellular_component	ND	--
GO:0005634	nucleus	IEA	--
GO:0005694	chromosome	IEA	--

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Antibodies for FANCD2:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibody Arrays and Antibodies for FANCD2
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (FANCD2), each with their Abpromise^SM
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Novus Biologicals Antibodies for FANCD2

Assays for FANCD2:

	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: Q9BXW9

UniProtKB/Swiss-Prot: FACD2_HUMAN, Q9BXW9

Domain: The C-terminal 24 residues of isoform 2 are required for its function

(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 (FANCD2)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_001018115

Applied Biosystems Silencer® siRNAs for FANCD2

Sigma-Aldrich siRNA for FANCD2

Sigma-Aldrich shRNA Panels and shRNA for FANCD2

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001018115
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001018115
untagged cDNA clones in CMV expression vector (see all 2): NM_001018115

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_033084

UniProtKB/Swiss-Prot: FACD2_HUMAN, Q9BXW9

Function: Required for maintenance of chromosomal stability. Promotes accurate and efficient

pairing of homologs during meiosis. Involved in the repair of DNA double-strand breaks, both by

homologous recombination and single-strand annealing. May participate in S phase and G2 phase

checkpoint activation upon DNA damage. Promotes BRCA2/FANCD1 loading onto damaged chromatin. May

also be involved in B-cell immunoglobulin isotype switching

8 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Fancd2):

cellular	endocrine/exocrine gland	growth/size	lethality-prenatal/perinatal	normal
reproductive system	tumorigenesis	vision/eye

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	ND	--
GO:0005515	protein binding	IPI	12874027

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.)
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3 Sigma-Aldrich "Your Favorite Gene" Pathways for FANCD2 (Your Favorite Gene powered by Ingenuity)

Role of BRCA1 in DNA Damage Response
ATM Signaling
Molecular Mechanisms of Cancer

GeneDecks FANCD2 for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for FANCD2

5/42 Interacting proteins for FANCD2 (Q9BXW9^{1, 2} ENSP00000287647³) via UniProtKB, MINT, and/or STRING (see all 42 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
BRCA1	P38398², ENSP00000350283³	MINT-19472 MINT-19473 STRING (score=.999)
BRCA2	P51587¹, ENSP00000369497³	EBI-596878, EBI-79792 STRING (score=.999)
FANCI	Q9NVI1¹, ENSP00000300027³	EBI-359343, EBI-1013291 STRING (score=.997)
MEN1	O00255¹, ENSP00000337088³	EBI-359343, EBI-592789 STRING (score=.96)
FANCE	Q9HB96¹^,², ENSP00000229769³	EBI-359343, EBI-396803 MINT-19474 MINT-45828 MINT-19475 MINT-5206796 EBI-359343, EBI-396803 MINT-19474 MINT-45828 MINT-19475 MINT-5206796 STRING (score=.999)

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5 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	--
GO:0007049	cell cycle	IEA	--
GO:0008150	biological_process	ND	--
GO:0010332	response to gamma radiation	IDA	12874027

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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 FANCD2
7 Novoseek chemical compound relationships for FANCD2 gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
diepoxybutane	78.44	3	19287902 (1), 12393398 (1)
rpa 2	68.67	2	15661754 (1), 15153434 (1)
oleic acid	49.15	6	11171247 (2), 15466222 (1), 17672910 (1), 17069354 (1) (see all 5)
alpha-linolenic acid	38.29	1	17069354 (1)
linoleic acid	37.77	3	17069354 (3)
fatty acid	3.87	1	7907506 (1)
lipid	0.00	1	7907506 (1)

About this table

(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 (FANCD2)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_001018115

Sigma-Aldrich siRNA for FANCD2

Sigma-Aldrich shRNA Panels and shRNA for FANCD2

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001018115 NM_033084

REFSEQ mRNAs for FANCD2 gene (2 alternative transcripts):

NM_001018115.1 NM_033084.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001018115 NM_033084

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001018115
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001018115
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_001018115

Additional cDNA sequence:

AF230336.1 AF340183.1 AK022613.1 AK074406.1 AK307512.1 AL832427.1 BC013582.2 BC038666.1

13 DOTS entries:

DT.101957323 DT.99931994 DT.408762 DT.100678572 DT.100019744 DT.100014607 DT.120895800 DT.65288345

DT.95201643 DT.40108656 DT.75137809 DT.95320904 DT.87002582

23 AceView cDNA sequences:

CD171848 CB146712 AI656012 BV180790 BC013582 AW590391 AU124890 AL517649

BX956311 BM836850 BE619536 AW821120 BC038666 AF340183 AF230336 NM_033084

BX451845 AK022613 BI048112 AU128927 BI048172 BI048109 BF899630

highest scoring ESTs for FANCD2:

T91383 AA974322 AI953711 AK074406 AL517648 AW089025 AW390353 BE927755 BE927757 BE927763

Unigene Cluster for FANCD2:

Fanconi anemia, complementation group D2

Hs.208388 [show with all ESTs]

Unigene Representative Sequence: BC038666

GeneLoc Exon Structure

3 Ensembl transcripts including schematic representations:

ENST00000383806 ENST00000287647 ENST00000383807

(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 )
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FANCD2 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for FANCD2

¹ / ² / ³

11 probe-sets matching FANCD2 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
53423_i_at²^{, 3}	U95-B	1	1.00	1.00	0.53	0.77	R94933	0.80	1.00	0.91	1
87455_at²^{, 3}	U95-E	1	1.00	1.00	0.34	0.61	AI953711	0.80	1.00	0.91	1
53426_r_at²^{, 3}	U95-B	1	1.00	1.00	0.33	0.24	R94933	0.80	1.00	0.91	1
87453_s_at²^{, 3}	U95-E	1	1.00	1.00	0.62	1.28	AW015860	0.60	1.00	0.82	1
65277_at²^{, 3}	U95-C	2	1.00	0.97	0.86	0.98	T91383	1.00	1.00	1.00	1
242560_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AA579890	0.60	1.00	0.82	1
223545_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AF340183	0.80	0.88	0.84	1
1568891_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1568889_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
242560_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
223545_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks FANCD2 for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: ATTCTGGACT

SOURCE GeneReport for Unigene cluster: Hs.208388
UniProtKB/Swiss-Prot: FACD2_HUMAN, Q9BXW9
Tissue specificity: Highly expressed in germinal center cells of the spleen, tonsil, and reactive
lymph nodes, and in the proliferating basal layer of squamous epithelium of tonsil, esophagus,
oropharynx, larynx and cervix. Expressed in cytotrophoblastic cells of the placenta and exocrine
cells of the pancreas (at protein level). Highly expressed in testis, where expression is
restricted to maturing spermatocytes

(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 FANCD2 gene from 5/8 species (see all 8 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	FANCD2¹	--	Fanconi anemia, complementation group D2	88.41(n) 86.25(a)	484659 XM_541774.2 XP_541774.2
cow (Bos taurus)	FANCD2¹	--	Fanconi anemia, complementation group D2	86.33(n) 81.53(a)	515845 XM_593936.3 XP_593936.3
rat (Rattus norvegicus)	Fancd2¹	--	Fanconi anemia, complementation group D2	81.23(n) 76.09(a)	312641 NM_001001719.1 NP_001001719.1
mouse (Mus musculus)	Fancd2^{1, 5}	6⁵	Fanconi anemia, complementation group D2^{1, 5}	80.91(n)¹ 75.24(a)¹	211651¹ NM_001033244.2¹ NP_001028416.1¹ AA172276⁵ AA920033⁵ (see all 17)
chicken (Gallus gallus)	FANCD2¹	--	Fanconi anemia, complementation group D2	64.36(n) 57.84(a)	415935 NM_001039261.1 NP_001034350.1

About this table Species with no ortholog for FANCD2

ENSEMBL Gene Tree for FANCD2

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/584 NCBI SNPs in FANCD2 are shown (see all 584 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 145)

AB	SNP ID	Valid	Chr 3 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
--	rs2075310^1,2	A,C,F,H	10042651(-)	`TgtcaG/Atttgc`	2	--	ng5¹		10	EA EU WA NS	2056
--	rs9845756^1,2	A,C,F,H	10042548(+)	`tgaggG/Caggta`	2	--	ng5¹ tfbs³		9	EU EA WA NS	588
--	rs781871^1,2	A,C,F	10041805(+)	`gctaaT/Agttta`	2	--	ng5¹		5	NS	176
--	rs35782247^1,2	C,F	10064689(+)	`CAGTCT/GCCTAT`	2	R/L	mis¹		5	NS	174
	rs3732974^1,2	C,F	10045336(-)	`TTTGAC/GCAATG`	2	--	ut5¹ ese³		6	EA NS	1292
--	rs33917318^1,2	C,F	10042797(+)	`TCATGT/CCTACG`	2	--	ng5¹		6	EU NS	380
--	rs35495399^1,2	C,F	10090033(+)	`TAGAGG/TCCAGC`	2	G/V	mis¹		5	NS	190
--	rs17032268^1,2	C,F	10042972(+)	`CTCGCC/TCCTAT`	2	--	ng5¹		8	NA NS	328
--	rs3864017^1,2	C,F	10081532(-)	`TCACCG/AGACCC`	2	L/P	mis¹ ese³		6	MN NS	374
--	rs34557223^1,2	F	10064658(+)	`ACTCTC/GTAGAC`	2	L/V	mis¹		5	NS	174

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HapMap Linkage Disequilibrium images for FANCD2 (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: 227646

UniProtKB/Swiss-Prot: FACD2_HUMAN, Q9BXW9

Defects in FANCD2 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

10/14 Novoseek disease relationships for FANCD2 gene (see all 14 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
fanconis anemia	96.96	53	15849361 (3), 15454491 (2), 16916645 (2), 19287902 (2) (see all 32)
nijmegen breakage syndrome	53.57	1	11733219 (1)
cancer	50.09	7	17643815 (3), 12351379 (1), 14517836 (1), 17387268 (1)
genetic disorder	49.44	1	15886296 (1)
ataxia telangiectasia	39.20	2	12447395 (1), 11733219 (1)
chromosomal aberrations	38.27	1	17332347 (1)
anemia	38.26	4	18997962 (1), 12001267 (1), 14517836 (1)
breast cancer	33.20	13	17333336 (5), 12915460 (1), 14695169 (1), 14712086 (1)
hnscc	30.83	2	17409780 (1), 16466850 (1)
tumors	20.05	13	15694018 (2), 12887909 (1), 17333336 (1), 18258493 (1) (see all 7)

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GeneTests: FANCD2

Fanconi Anemia

Human Gene Mutation Database: FANCD2
Human Genome Epidemiology Navigator: FANCD2 (6 documents)

(Possibly Related Articles in Doctor's Guide)
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Scientists Discover Missing Link Between Rare Disease And Inherited Forms Of Breast Cancer

(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

10/151 PubMed articles for FANCD2 gene (see all 151 ):

Positional cloning of a novel Fanconi anemia gene, FANCD2. (PubMed id 11239453)^{2, 3, 4} Timmers C....Grompe M. (2001)
Direct interaction of FANCD2 with BRCA2 in DNA damage response pathways. (PubMed id 15115758)^{1, 3, 4} Hussain S.... Mathew C.G. (2004)
Functional interaction of monoubiquitinated FANCD2 and BRCA2/FANCD1 in chromatin. (PubMed id 15199141)^{1, 3, 4} Wang X.Z.... D'Andrea A.D. (2004)
FANCD2 protein is expressed in proliferating cells of human tissues that are cancer-prone in Fanconi anaemia. (PubMed id 14517836)^{1, 3, 4} Hoelzel M.... de Winter J.P. (2003)
FANCD2 functions independently of BRCA2 and RAD51 associated homologous recombination in response to DNA damage. (PubMed id 15671039)^{1, 3, 4} Ohashi A.... Couch F.J. (2005)
Regulated interaction of the Fanconi anemia protein, FANCD2, with chromatin. (PubMed id 15454491)^{1, 3, 4} Montes de Oca R.... D'Andrea A.D. (2005)
Cigarette smoke induces genetic instability in airway epithelial cells by suppressing FANCD2 expression. (PubMed id 18475298)^{1, 2, 3} Hays L.E....Bagby G.C. (2008)
S-phase-specific interaction of the Fanconi anemia protein, FANCD2, with BRCA1 and RAD51. (PubMed id 12239151)^{1, 3, 4} Taniguchi T.... D'Andrea A.D. (2002)
Menin associates with FANCD2, a protein involved in repair of DNA damage. (PubMed id 12874027)^{1, 3, 4} Jin S....Hua X. (2003)
The Fanconi anemia pathway is required for the DNA replication stress response and for the regulation of common fragile site stability. (PubMed id 15661754)^{1, 3, 4} Howlett N.G.... Glover T.W. (2005)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 2177	HGNC: 3585	AceView: FANCD2	Ensembl:ENSG00000144554	euGenes: HUgn2177
ECgene: FANCD2	H-InvDB: FANCD2

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for FANCD2	Genetics and Cytogenetics in Oncology and Haematology
Fanconi Anemia Mutation Database	http://www.rockefeller.edu/fanconi/mutate/jumpd2.html
GeneReviews	http://www.genetests.org/query?gene=FANCD2
NIEHS-SNPs	http://egp.gs.washington.edu/data/fancd2/

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FANCD2 Gene

protein-coding GIFtS: 59

Aliases &
Descriptions
for FANCD2

Summaries
for FANCD2

Genomic Location
for FANCD2

Proteins
for FANCD2

Protein Domains/
Families
for FANCD2

Gene Function
for FANCD2

Pathways & Interactions
for FANCD2

Drugs & Compounds
for FANCD2

Transcripts
for FANCD2

Expression
for FANCD2

Orthologs
for FANCD2

Paralogs
for FANCD2

SNPs/Variants
for FANCD2

Disorders & Mutations
for FANCD2

Medical News
for FANCD2

Publications
for FANCD2

Search for FANCD2

Genome Databases showing FANCD2

Other Databases showing FANCD2

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Licensable Technologies
for FANCD2

Services
for FANCD2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

FANCD2 Gene

protein-coding GIFtS: 59

Aliases & Descriptionsfor FANCD2

Summariesfor FANCD2

Genomic Locationfor FANCD2

Proteinsfor FANCD2

Protein Domains/Familiesfor FANCD2

Gene Functionfor FANCD2

Pathways & Interactionsfor FANCD2

Drugs & Compoundsfor FANCD2

Transcriptsfor FANCD2

Expression for FANCD2

Orthologsfor FANCD2

Paralogsfor FANCD2

SNPs/Variantsfor FANCD2

Disorders & Mutationsfor FANCD2

Medical Newsfor FANCD2

Publicationsfor FANCD2

Search for FANCD2

Genome Databases showing FANCD2

Other Databases showing FANCD2

Specialized Databases showing FANCD2

Licensable Technologiesfor FANCD2

Servicesfor FANCD2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for FANCD2

Summaries
for FANCD2

Genomic Location
for FANCD2

Proteins
for FANCD2

Protein Domains/
Families
for FANCD2

Gene Function
for FANCD2

Pathways & Interactions
for FANCD2

Drugs & Compounds
for FANCD2

Transcripts
for FANCD2

Expression
for FANCD2

Orthologs
for FANCD2

Paralogs
for FANCD2

SNPs/Variants
for FANCD2

Disorders & Mutations
for FANCD2

Medical News
for FANCD2

Publications
for FANCD2

Licensable Technologies
for FANCD2

Services
for FANCD2