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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FANCD2 Gene

protein-coding GIFtS: 60
GCID: GC03P010068

Fanconi anemia, complementation group D2

(Previous symbols: FACD, FANCD)

Explore 36 diseases affiliated with
FANCD2 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 D2¹ ²		FA4²
FACD¹ ² ³		FAD2²
FA-D2¹ ²		Fanconi Anemia Group D2 Protein²
FAD¹ ²		Protein FACD2³
FANCD¹ ²

External Ids:	HGNC: 3585¹	Entrez Gene: 2177²	Ensembl: ENSG00000144554⁷	OMIM: 613984⁵	UniProtKB: Q9BXW9³

Export aliases for FANCD2 gene to outside databases

Previous GC identifers: GC03P009997 GC03P010043 GC03P010008

(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 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, Jul 2008)

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. Plays a role in preventing

breakage and loss of missegregating chromatin at the end of cell division, particularly after replication stress.

Required for the targeting, or stabilization, of BLM to non-centromeric abnormal structures induced by replicative

stress. 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 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_000003.11 NC_018914.1 NT_022517.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FANCD2 gene promoter:
Nkx3-1 Nkx3-1 v4 p53 AP-4 Nkx3-1 v1 Nkx3-1 v2 FAC1 c-Myb Nkx3-1 v3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FANCD2 promoter sequence

Search SABiosciences Chromatin IP Primers for FANCD2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FANCD2

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

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)
FANCD2 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03P010068: view genomic region (about GC identifiers)

Start:	10,068,098 bp from pter	End:	10,143,614 bp from pter
Size:	75,517 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: 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 and BLM. Both the nonubiquitinated and the monoubiquitinated forms interact with BRCA2; this

interaction is mediated by phosphorylated FANCG and the complex also includes XCCR3. The ubiquitinated form

specifically interacts with MTMR15/FAN1 (via UBZ-type zinc finger), leading to recruit MTMR15/FAN1 to sites of DNA

damage. Interacts with DCLRE1B/Apollo

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

of mitosis, excluded from chromosomes and diffuses into the cytoplasm, returning to the nucleus at the end of cell

division. Observed in a few spots localized in pairs on the sister chromatids of mitotic chromosome arms and not

centromeres, one on each chromatids. These foci coincide with common fragile sites and could be sites of replication

fork stalling. The foci are frequently interlinked through BLM-associated ultra-fine DNA bridges. Following

aphidicolin treatment, targets chromatid gaps and breaks

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

(at protein level)

Sequence caution: Sequence=BAB14132.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Secondary accessions: Q2LA86 Q69YP9 Q6PJN7 Q9BQ06 Q9H9T9

Alternative splicing: 4 isoforms: Q9BXW9-1 Q9BXW9-2 Q9BXW9-3 Q9BXW9-4 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FANCD2: NX_Q9BXW9

Post-translational modifications:

Monoubiquitinated on Lys-561 during S phase and upon genotoxic stress by FANCL in complex with E2 ligases UBE2T or

UBE2W (isoform 1 and isoform 2). Deubiquitinated by USP1 as cells enter G2/M, or once DNA repair is completed.

Monoubiquitination requires the joint intervention of the FANC core complex, including FANCA, FANCB, FANCC, FANCE,

FANCF, FANCG, and FANCM, and proteins involved in cell cycle checkpoints and DNA repair, including RPA1, ATR, CHEK1

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

BRCA2 and MTMR15/FAN1, 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 modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9BXW9

FANCD2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001018125.1 NP_149075.2

ENSEMBL proteins:

ENSP00000287647 ENSP00000402166 ENSP00000398754 ENSP00000399354 ENSP00000389936

ENSP00000373318 ENSP00000373317

Reactome Protein details: Q9BXW9
Human Recombinant Protein Products:

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	Uscn Proteins for FANCD2

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000793	condensed chromosome	IEA	--
GO:0005654	nucleoplasm	TAS	--

FANCD2 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for FANCD2

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

Function Summary:

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. Plays a role in preventing

breakage and loss of missegregating chromatin at the end of cell division, particularly after replication stress.

Required for the targeting, or stabilization, of BLM to non-centromeric abnormal structures induced by replicative

stress. Promotes BRCA2/FANCD1 loading onto damaged chromatin. May also be involved in B-cell immunoglobulin isotype

switching

miRNA Products:		OriGene 3'-UTR Clone (see all 2): FANCD2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FANCD2
		6 QIAGEN miScript miRNA Assays for microRNAs that regulate FANCD2:
		hsa-miR-299-5p hsa-miR-607 hsa-miR-522 hsa-miR-3662 hsa-miR-138-2* hsa-miR-224*
		SwitchGear 3'UTR luciferase reporter plasmid: FANCD2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		Search LifeMap BioReagents cell lines for FANCD2

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FANCD2

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	18212739

FANCD2 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for FANCD2:

Synthetic lethal with Ras

Animal Models:
Mouse knock-out Fancd2^tm1Hou for FANCD2
8 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Fancd2):

cellular	endocrine/exocrine gland	growth/size	mortality/aging	normal
reproductive system	tumorigenesis	vision/eye

FANCD2 for phenotypes About GeneDecksing

(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 - 5/13 super-pathways (see all 13) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Fanconi Anemia pathway

	Fanconi Anemia pathway	1.00			Regulation of the Fanconi anemia pathway	0.42
	Fanconi's Anaemia Pathway	0.43			BARD1 signaling events	0.23

DNA damage ATM/ATR regulation of G1/S checkpoint

DNA damage ATM/ATR regulation of G1/S checkpoint

1.00

DNA damage_ATM/ATR regulation of G1/S checkpoint

0.98

Formation of RNA Pol II elongation complex

DNA damage_Role of Brca1 and Brca2 in DNA repair

0.17

DNA damage Role of Brca1 and Brca2 in DNA repair

0.17

DNA Damage

DNA Damage

1.00

Cell Cycle / Checkpoint Control

Cell Cycle / Checkpoint Control

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for FANCD2

	DNA damage ATM/ATR regulation of G1/S checkpoint
	Meiosis
	DNA damage Role of Brca1 and Brca2 in DNA repair

5 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for FANCD2

	ATM Pathway
	Fanconi's Anaemia Pathway
	BRCA1 Pathway
	DNA Repair Mechanisms
	Molecular Mechanisms of Cancer

2 Cell Signaling Technology (CST) Pathways for FANCD2

	Cell Cycle / Checkpoint Control
	DNA Damage

2 GeneGo (Thomson Reuters) Pathways for FANCD2

	DNA damage Role of Brca1 and Brca2 in DNA repair
	DNA damage ATM/ATR regulation of G1/S checkpoint

3 BioSystems Pathways for FANCD2

	DNA damage response
	TNF-alpha/NF-kB Signaling Pathway
	BARD1 signaling events

3 Reactome Pathways for FANCD2

	DNA Repair
	Regulation of the Fanconi anemia pathway
	Fanconi Anemia pathway

FANCD2 for pathways About GeneDecksing

Interactions:

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

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

5/589 Interacting proteins for FANCD2 (Q9BXW9^{1, 2, 3} ENSP00000287647⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 589)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FANCI	Q9NVI1¹^,²^,³, ENSP00000310842⁴	EBI-359343,EBI-1013291 MINT-7947479 I2D: score=3 STRING: ENSP00000310842
BRCA1	P38398²^,³, ENSP00000350283⁴	MINT-19472 MINT-19473 I2D: score=4 STRING: ENSP00000350283
H2AFX	P16104²^,³, ENSP00000364310⁴	MINT-7906555 I2D: score=4 STRING: ENSP00000364310
TNFRSF1A	P19438²^,³	MINT-48044 MINT-49340 I2D: score=4
TNFRSF1B	P20333²^,³	MINT-49427 MINT-48047 I2D: score=4

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006281	DNA repair	TAS	--
GO:0006974	response to DNA damage stimulus	--	--
GO:0007129	synapsis	IEA	--
GO:0007276	gamete generation	IEA	--
GO:0010332	response to gamma radiation	IDA	12874027

FANCD2 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

FANCD2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for FANCD2
10/12 Novoseek chemical compound relationships for FANCD2 gene (see all 12) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
mitomycin c	81.4	22	12447395 (1), 17412408 (1), 19561358 (1), 16474167 (1) (see all 17)
diepoxybutane	76.9	3	19287902 (1), 12393398 (1)
rpa 2	64.7	2	15661754 (1), 15153434 (1)
melphalan	54.1	2	19934314 (2)
oleic acid	46.3	6	11171247 (2), 15466222 (1), 17672910 (1), 17069354 (1) (see all 5)
hydroxyurea	43.6	3	18672388 (1), 15115758 (1)
aphidicolin	36.6	2	15661754 (2)
alpha-linolenic acid	35.2	1	17069354 (1)
linoleic acid	34.7	3	17069354 (3)
cisplatin	29	1	16648566 (1)

Search CenterWatch for drugs/clinical trials and news about FANCD2 / FACD2

(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, 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 FANCD2 gene (2 alternative transcripts):

NM_001018115.1 NM_033084.3

Unigene Cluster for FANCD2:

Fanconi anemia, complementation group D2

Hs.208388 [show with all ESTs]

Unigene Representative Sequence: BC038666

13 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000287647(uc003buw.3) ENST00000435522 ENST00000419585(uc003buy.1)

ENST00000431693(uc003buv.3) ENST00000438741 ENST00000483276 ENST00000464934

ENST00000421731 ENST00000470757 ENST00000480909 ENST00000470028 ENST00000383807(uc003bux.1)

ENST00000383806(uc010hcw.1)

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		6 QIAGEN miScript miRNA Assays for microRNAs that regulate FANCD2:
		hsa-miR-299-5p hsa-miR-607 hsa-miR-522 hsa-miR-3662 hsa-miR-138-2* hsa-miR-224*
		SwitchGear 3'UTR luciferase reporter plasmid: FANCD2 3' UTR sequence

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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 AI656012 CB146712 AW590391 BX956311 AU124890 BC013582 AL517649

BV180790 BM836850 AW821120 BE619536 NM_033084 BX451845 BC038666 AF230336

AF340183 AK022613 BI048112 AU128927 BI048172 BI048109 BF899630

GeneLoc Exon Structure

(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

FANCD2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATTCTGGACT

About this image

FANCD2 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: 2 LifeMap Cells

Name

Category

PureStem™ progenitor E44 (Embryonic Progenitor Cell)

PureStem™ progenitor F15 (Embryonic Progenitor Cell)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See FANCD2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FANCD2

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

SABiosciences Expression via Pathway-Focused PCR Array including FANCD2:

DNA Damage Signaling Pathway in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FANCD2

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FANCD2

(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 eukaryotes.

Orthologs for FANCD2 gene from 8/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Fancd2^{1 , 5}	Fanconi anemia, complementation group D2^{1, 5}	80.94(n)¹ 75.31(a)¹		6 (52.78 cM)⁵ 211651¹ NM_001033244.3¹ NP_001028416.2¹ 113531682⁵
chicken (Gallus gallus)	Aves	FANCD2¹	Fanconi anemia, complementation group D2	64.36(n) 57.84(a)		415935 NM_001039261.1 NP_001034350.1
lizard (Anolis carolinensis)	Reptilia	FANCD2⁶	--	57(a)	1 ↔ 1	2(147358183-147415252)
zebrafish (Danio rerio)	Actinopterygii	fancd2¹	Fanconi anemia, complementation group D2	59.13(n) 54.69(a)		394241 NM_201341.1 NP_958498.1
fruit fly (Drosophila melanogaster)	Insecta	Fancd2¹	CG17269-PA	40.79(n) 25.85(a)		2768674 NM_206524.1 NP_996246.1
worm (Caenorhabditis elegans)	Secernentea	fcd-2⁶	human FANCD2 (Fanconi's anemia defect) ortholog fa...	15(a)	1 ↔ 1	IV(15025678-15037004)
thale cress (Arabidopsis thaliana)	eudicotyledons	AT4G14970¹	fanconi anemia group D2 protein	45.7(n) 31.96(a)		827156 NM_117584.5 NP_193233.5
rice (Oryza sativa)	Liliopsida	Os07g0154400¹	hypothetical protein	42.58(n) 28.71(a)		4342426 NM_001065450.2 NP_001058915.2

ENSEMBL Gene Tree for FANCD2 (if available)
TreeFam Gene Tree for FANCD2 (if available)

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

Paralogs for FANCD2 gene

FANCD2 for paralogs About GeneDecksing

3 Pseudogenes.org Pseudogenes for FANCD2
PGOHUM00000237931 PGOHUM00000237934 PGOHUM00000237935

(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 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs79299475^1,2		--	10002742(+)	`CTTGCA/GGAATT`	2	--	us2k¹		0	--	--	--	--
rs34512457^1,2	C,	--	10002883(+)	`GTAAAT/CATAGG`	2	--	us2k¹		5		NS	154
rs112029614^1,2		--	10003120(+)	`CCTCCG/CGAGTA`	2	--	us2k¹		1		CSA	1
rs56070953^1,2	C,	--	10004003(+)	`ACCTAA/GGCAAA`	2	--	us2k¹		0	--	--	--	--
rs35485751^1,2	C,	--	10004029(+)	`CACTTT/CCTTGT`	2	--	us2k¹		5		NS	190
rs202096667^1,2	C	--	10004050(+)	`GGCGGG/TGTGAG`	2	--	us2k¹		0	--	--	--	--
rs200273431^1,2	C	--	10004067(-)	`TCCCTC/TCCCCA`	2	--	us2k¹		0	--	--	--	--
rs17032268^1,2	C,F,	--	10004330(+)	`CTCGCC/TCCTAT`	2	--	us2k¹		17		NA NS WA CSA EA	700
rs56162920^1,2	C	--	10004458(+)	`GGCGTT/CAGAGC`	2	--	us2k¹		2		CSA	3
rs55963803^1,2	C,	--	10004660(+)	`GATAAG/TCCCCA`	2	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for FANCD2 (10068098 - 10143614 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for FANCD2: --
Human Gene Mutation Database (HGMD): FANCD2

Locus Specific Mutation Databases (LSDB): FANCD2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FANCD2

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(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.)
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FANCD2 for disorders About GeneDecksing

OMIM gene information: 613984 OMIM disorders: --

UniProtKB/Swiss-Prot: FACD2_HUMAN, Q9BXW9

Defects in FANCD2 are a cause of Fanconi anemia complementation group D type 2 (FANCD2) [MIM:227646]. 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

20/36 diseases for FANCD2 (see all 36): About MalaCards

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

nijmegen breakage syndrome ataxia telangiectasia oral squamous cell carcinoma squamous cell carcinoma

breast cancer susceptibility breast cancer sporadic breast cancer chronic myeloid leukemia

epithelial ovarian cancer myeloid leukemia ovarian cancer familial breast cancer

leukopenia hereditary pancreatitis multiple myeloma myelodysplastic syndrome

3 diseases from the University of Copenhagen DISEASES database for FANCD2:

Bone marrow disease Anemia Genetic disorder

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

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
fanconis anemia	97.2	59	15849361 (3), 15454491 (2), 16916645 (2), 12239156 (2) (see all 37)
nijmegen breakage syndrome	51.3	1	11733219 (1)
cancer	50.5	8	17643815 (3), 12351379 (1), 14517836 (1), 19861535 (1) (see all 5)
genetic disorder	46.4	1	15886296 (1)
anemia	41.9	7	18997962 (1), 19609304 (1), 20122765 (1), 19465922 (1) (see all 6)
breast cancer	37.8	17	17333336 (5), 19504183 (1), 12915460 (1), 19536649 (1) (see all 7)
ataxia telangiectasia	36.1	2	12447395 (1), 11733219 (1)
chromosomal aberrations	35.4	1	17332347 (1)
hnscc	26.7	2	17409780 (1), 16466850 (1)
tumors	19.7	14	15694018 (2), 12887909 (1), 17333336 (1), 18258493 (1) (see all 8)

GeneTests: FANCD2

Fanconi Anemia

Human Genome Epidemiology (HuGE) Navigator: FANCD2 (14 documents)

Export disorders for FANCD2 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)
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PubMed articles for FANCD2 gene, integrated from 9 sources (see all 225):
(articles sorted by number of sources associating them with FANCD2)

Utopia: connect your pdf to the dynamic
world of online information

Positional cloning of a novel Fanconi anemia gene, FANCD2. (PubMed id 11239453)^{1, 2, 3} Timmers C....Grompe M. (2001)
Direct interaction of FANCD2 with BRCA2 in DNA damage response pathways. (PubMed id 15115758)^{1, 2, 9} Hussain S.... Mathew C.G. (2004)
Functional interaction of monoubiquitinated FANCD2 and BRCA2/FANCD1 in chromatin. (PubMed id 15199141)^{1, 2, 9} 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, 2, 9} 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, 2, 9} Ohashi A.... Couch F.J. (2005)
Regulated interaction of the Fanconi anemia protein, FANCD2, with chromatin. (PubMed id 15454491)^{1, 2, 9} 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, 3, 9} 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, 2, 9} Taniguchi T.... D'Andrea A.D. (2002)
Menin associates with FANCD2, a protein involved in repair of DNA damage. (PubMed id 12874027)^{1, 2, 9} 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, 2, 9} Howlett N.G.... Glover T.W. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

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 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 FANCD2	Pharmacogenomics, SNPs, Pathways
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.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FANCD2
NIEHS-SNPs	http://egp.gs.washington.edu/data/fancd2/

Intellectual Property for FANCD2 gene
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Patent Information for FANCD2 gene:
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Fanconi anemia, complementation group D2

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