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.

Publications (55)

Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway. Garcia-Higuera I, Taniguchi T, Ganesan S, Meyn MS, Timmers C, Hejna J, Grompe M, D'Andrea AD. Molecular cell. 2001 7:249-62. (ICC, WB; Human) [PubMed:11239454]

Human alpha spectrin II and the FANCA, FANCC, and FANCG proteins bind to DNA containing psoralen interstrand cross-links. McMahon LW, Sangerman J, Goodman SR, Kumaresan K, Lambert MW. Biochemistry. 2001 40:7025-34. (WB, IP; Human) [PubMed:11401546]

Targeted disruption of the murine Fanconi anemia gene, Fancg/Xrcc9. Yang Y, Kuang Y, Montes De Oca R, Hays T, Moreau L, Lu N, Seed B, D'Andrea AD. Blood. 2001 98:3435-40. (WB; Mouse) [PubMed:11719385]

Convergence of the fanconi anemia and ataxia telangiectasia signaling pathways. Taniguchi T, Garcia-Higuera I, Xu B, Andreassen PR, Gregory RC, Kim ST, Lane WS, Kastan MB, D'Andrea AD. Cell. 2002 109:459-72. [PubMed:12086603]

Attenuation of the formation of DNA-repair foci containing RAD51 in Fanconi anaemia. Digweed M, Rothe S, Demuth I, Scholz R, Schindler D, Stumm M, Grompe M, Jordan A, Sperling K. Carcinogenesis. 2002 23:1121-6. [PubMed:12117768]

S-phase-specific interaction of the Fanconi anemia protein, FANCD2, with BRCA1 and RAD51. Taniguchi T, Garcia-Higuera I, Andreassen PR, Gregory RC, Grompe M, D'Andrea AD. Blood. 2002 100:2414-20. (ICC, WB; Human) [PubMed:12239151]

Nonerythroid alphaII spectrin is required for recruitment of FANCA and XPF to nuclear foci induced by DNA interstrand cross-links. Sridharan D, Brown M, Lambert WC, McMahon LW, Lambert MW. Journal of cell science. 2003 116:823-35. (ICC, WB, IP; Human) [PubMed:12571280]

Acquired FANCA dysfunction and cytogenetic instability in adult acute myelogenous leukemia. Lensch MW, Tischkowitz M, Christianson TA, Reifsteck CA, Speckhart SA, Jakobs PM, O'Dwyer ME, Olson SB, Le Beau MM, Hodgson SV, Mathew CG, Larson RA, Bagby GC. Blood. 2003 102:16-Jul. (WB; Human) [PubMed:12637330]

FANCF methylation contributes to chemoselectivity in ovarian cancer. Olopade OI, Wei M. Cancer cell. 2003 3:417-20. [PubMed:12781358]

FANCD2 protein is expressed in proliferating cells of human tissues that are cancer-prone in Fanconi anaemia. Hlzel M, van Diest PJ, Bier P, Wallisch M, Hoatlin ME, Joenje H, de Winter JP. The Journal of pathology. 2003 201:198-203. [PubMed:14517836]

Repair kinetics of genomic interstrand DNA cross-links: evidence for DNA double-strand break-dependent activation of the Fanconi anemia/BRCA pathway. Rothfuss A, Grompe M. Molecular and cellular biology. 2004 24:123-34. (ICC, WB; Human) [PubMed:14673148] [PMC:PMC303365]

Oxidative stress/damage induces multimerization and interaction of Fanconi anemia proteins. Park SJ, Ciccone SL, Beck BD, Hwang B, Freie B, Clapp DW, Lee SH. The Journal of biological chemistry. 2004 279:30053-9. (WB, IP; Human) [PubMed:15138265]

A Rad50-dependent pathway of DNA repair is deficient in Fanconi anemia fibroblasts. Donahue SL, Campbell C. Nucleic acids research. 2004 32:3248-57. (Human) [PubMed:15199173] [PMC:PMC434453]

Nbs1 is required for ATR-dependent phosphorylation events. Stiff T, Reis C, Alderton GK, Woodbine L, O'Driscoll M, Jeggo PA. The EMBO journal. 2005 24:199-208. (ICC; Human) [PubMed:15616588] [PMC:PMC544916]

Spatial organization of the mammalian genome surveillance machinery in response to DNA strand breaks. Bekker-Jensen S, Lukas C, Kitagawa R, Melander F, Kastan MB, Bartek J, Lukas J. The Journal of cell biology. 2006 173:195-206. (ICC; Human) [PubMed:16618811] [PMC:PMC2063811]

Young patients with oral squamous cell carcinoma: study of the involvement of GSTP1 and deregulation of the Fanconi anemia genes. Tremblay S, Pintor Dos Reis P, Bradley G, Galloni NN, Perez-Ordonez B, Freeman J, Brown D, Gilbert R, Gullane P, Irish J, Kamel-Reid S. Archives of otolaryngology--head & neck surgery. 2006 132:958-66. (IHC-P; Human) [PubMed:16982972]

Defective mitochondrial peroxiredoxin-3 results in sensitivity to oxidative stress in Fanconi anemia. Mukhopadhyay SS, Leung KS, Hicks MJ, Hastings PJ, Youssoufian H, Plon SE. The Journal of cell biology. 2006 175:225-35. (WB; Human) [PubMed:17060495] [PMC:PMC2064564]

Activation of the Fanconi anemia/BRCA pathway and recombination repair in the cellular response to solar ultraviolet light. Dunn J, Potter M, Rees A, Rnger TM. Cancer research. 2006 66:11140-7. [PubMed:17145857]

Hsp90 regulates the Fanconi anemia DNA damage response pathway. Oda T, Hayano T, Miyaso H, Takahashi N, Yamashita T. Blood. 2007 109:5016-26. (WB; Human) [PubMed:17327415]

Proteasome function is required for DNA damage response and fanconi anemia pathway activation. Jacquemont C, Taniguchi T. Cancer research. 2007 67:7395-405. (ICC; Human) [PubMed:17671210]

Human Mus81 and FANCB independently contribute to repair of DNA damage during replication. Nomura Y, Adachi N, Koyama H. Genes to cells : devoted to molecular & cellular mechanisms. 2007 12:1111-22. [PubMed:17903171]

Orchestration of the DNA-damage response by the RNF8 ubiquitin ligase. Kolas NK, Chapman JR, Nakada S, Ylanko J, Chahwan R, Sweeney FD, Panier S, Mendez M, Wildenhain J, Thomson TM, Pelletier L, Jackson SP, Durocher D. Science (New York, N.Y.). 2007 318:1637-40. [PubMed:18006705] [PMC:PMC2430610]

HES1 is a novel interactor of the Fanconi anemia core complex. Tremblay CS, Huang FF, Habi O, Huard CC, Godin C, Lvesque G, Carreau M. Blood. 2008 112:2062-70. (ICC, WB; Human) [PubMed:18550849]

Overnight transduction with foamyviral vectors restores the long-term repopulating activity of Fancc-/- stem cells. Si Y, Pulliam AC, Linka Y, Ciccone S, Leurs C, Yuan J, Eckermann O, Fruehauf S, Mooney S, Hanenberg H, Clapp DW. Blood. 2008 112:4458-65. [PubMed:18684868] [PMC:PMC2597121]

Utility of DNA repair protein foci for the detection of putative BRCA1 pathway defects in breast cancer biopsies. Willers H, Taghian AG, Luo CM, Treszezamsky A, Sgroi DC, Powell SN. Molecular cancer research : MCR. 2009 7:1304-9. [PubMed:19671671]

Functional interaction between the Fanconi Anemia D2 protein and proliferating cell nuclear antigen (PCNA) via a conserved putative PCNA interaction motif. Howlett NG, Harney JA, Rego MA, Kolling FW, Glover TW. The Journal of biological chemistry. 2009 284:28935-42. (WB; Human) [PubMed:19704162] [PMC:PMC2781439]

Involvement of p29 in DNA damage responses and Fanconi anemia pathway. Chu PC, Wang TY, Lu YT, Chou CK, Yang YC, Chang MS. Carcinogenesis. 2009 30:1710-6. [PubMed:19748926]

XPF-ERCC1 participates in the Fanconi anemia pathway of cross-link repair. Bhagwat N, Olsen AL, Wang AT, Hanada K, Stuckert P, Kanaar R, D'Andrea A, Niedernhofer LJ, McHugh PJ. Molecular and cellular biology. 2009 29:6427-37. (ICC, WB; Human) [PubMed:19805513] [PMC:PMC2786876]

Constitutive activation of caspase-3 and Poly ADP ribose polymerase cleavage in fanconi anemia cells. Lyakhovich A, Surralls J. Molecular cancer research : MCR. 2010 8:46-56. (WB; Human) [PubMed:20068062]

Spontaneous abrogation of the GDNA damage checkpoint has clinical benefits but promotes leukemogenesis in Fanconi anemia patients. Ceccaldi R, Briot D, Larghero J, Vasquez N, Dubois d'Enghien C, Chamousset D, Noguera ME, Waisfisz Q, Hermine O, Pondarre C, Leblanc T, Gluckman E, Joenje H, Stoppa-Lyonnet D, Soci G, Soulier J. The Journal of clinical investigation. 2011 121:184-94. (WB; Human) [PubMed:21183791] [PMC:PMC3007150]

Mutations of the SLX4 gene in Fanconi anemia. Kim Y, Lach FP, Desetty R, Hanenberg H, Auerbach AD, Smogorzewska A. Nature genetics. 2011 43:142-6. (WB; Human) [PubMed:21240275] [PMC:PMC3345287]

SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype. Stoepker C, Hain K, Schuster B, Hilhorst-Hofstee Y, Rooimans MA, Steltenpool J, Oostra AB, Eirich K, Korthof ET, Nieuwint AW, Jaspers NG, Bettecken T, Joenje H, Schindler D, Rouse J, de Winter JP. Nature genetics. 2011 43:138-41. (ICC; Human) [PubMed:21240277]

Ovarian surface epitheliectomy in the non-human primate: continued cyclic ovarian function and limited epithelial replacement. Wright JW, Pejovic T, Jurevic L, Bishop CV, Hobbs T, Stouffer RL. Human reproduction (Oxford, England). 2011 26:1422-30. (IHC-P; Primate) [PubMed:21421661] [PMC:PMC3096558]

HP1alpha recruitment to DNA damage by p150CAF-1 promotes homologous recombination repair. Baldeyron C, Soria G, Roche D, Cook AJ, Almouzni G. The Journal of cell biology. 2011 193:81-95. (ICC, WB; Mouse, Human) [PubMed:21464229] [PMC:PMC3082177]

Snm1B/Apollo functions in the Fanconi anemia pathway in response to DNA interstrand crosslinks. Mason JM, Sekiguchi JM. Human molecular genetics. 2011 20:2549-59. (ICC, WB; Human) [PubMed:21478198] [PMC:PMC3110000]

Fanconi anemia D2 protein is an apoptotic target mediated by caspases. Park SJ, Beck BD, Saadatzadeh MR, Haneline LS, Clapp DW, Lee SH. Journal of cellular biochemistry. 2011 112:2383-91. (WB; Human) [PubMed:21520247] [PMC:PMC3509204]

The human DEK oncogene regulates DNA damage response signaling and repair. Kavanaugh GM, Wise-Draper TM, Morreale RJ, Morrison MA, Gole B, Schwemberger S, Tichy ED, Lu L, Babcock GF, Wells JM, Drissi R, Bissler JJ, Stambrook PJ, Andreassen PR, Wiesmller L, Wells SI. Nucleic acids research. 2011 39:7465-76. (ICC; Human) [PubMed:21653549] [PMC:PMC3177200]

Lac operator repeats generate a traceable fragile site in mammalian cells. Jacome A, Fernandez-Capetillo O. EMBO reports. 2011 12:1032-8. (ICC; Mouse) [PubMed:21836640] [PMC:PMC3185343]

Differential roles for Chk1 and FANCD2 in ATR-mediated signalling for psoralen photoactivation-induced senescence. Hovest MG, Krieg T, Herrmann G. Experimental dermatology. 2011 20:883-9. (ICC, WB; Human) [PubMed:21995812]

Dysregulation of DNA polymerase recruitment to replication forks results in genomic instability. Jones MJ, Colnaghi L, Huang TT. The EMBO journal. 2012 31:908-18. (ICC; Human) [PubMed:22157819] [PMC:PMC3280556]

Processing of anthracycline-DNA adducts via DNA replication and interstrand crosslink repair pathways. Bilardi RA, Kimura KI, Phillips DR, Cutts SM. Biochemical pharmacology. 2012 83:1241-50. (ICC; Mouse) [PubMed:22326903]

Fanconi anemia (FA) binding protein FAAP20 stabilizes FA complementation group A (FANCA) and participates in interstrand cross-link repair. Leung JW, Wang Y, Fong KW, Huen MS, Li L, Chen J. Proceedings of the National Academy of Sciences of the United States of America. 2012 109:4491-6. (ICC, WB; Human) [PubMed:22396592] [PMC:PMC3311328]

UBR2 of the N-end rule pathway is required for chromosome stability via histone ubiquitylation in spermatocytes and somatic cells. An JY, Kim E, Zakrzewska A, Yoo YD, Jang JM, Han DH, Lee MJ, Seo JW, Lee YJ, Kim TY, de Rooij DG, Kim BY, Kwon YT. PloS one. 2012 7:e37414. (ICC; Mouse) [PubMed:22616001] [PMC:PMC3355131]

The fanconi anemia pathway limits human papillomavirus replication. Hoskins EE, Morreale RJ, Werner SP, Higginbotham JM, Laimins LA, Lambert PF, Brown DR, Gillison ML, Nuovo GJ, Witte DP, Kim MO, Davies SM, Mehta PA, Butsch Kovacic M, Wikenheiser-Brokamp KA, Wells SI. Journal of virology. 2012 86:8131-8. (WB; Human) [PubMed:22623785] [PMC:PMC3421690]

Bone marrow failure in Fanconi anemia is triggered by an exacerbated p53/p21 DNA damage response that impairs hematopoietic stem and progenitor cells. Ceccaldi R, Parmar K, Mouly E, Delord M, Kim JM, Regairaz M, Pla M, Vasquez N, Zhang QS, Pondarre C, Peffault de Latour R, Gluckman E, Cavazzana-Calvo M, Leblanc T, Larghero J, Grompe M, Soci G, D'Andrea AD, Soulier J. Cell stem cell. 2012 11:36-49. (ICC, WB; Human) [PubMed:22683204] [PMC:PMC3392433]

FAVL impairment of the Fanconi anemia pathway promotes the development of human bladder cancer. Panneerselvam J, Park HK, Zhang J, Dudimah FD, Zhang P, Wang H, Fei P. Cell cycle (Georgetown, Tex.). 2012 11:2947-55. (ICC, WB; Human) [PubMed:22828653] [PMC:PMC3419064]

Regulation of the Fanconi anemia pathway by a CUE ubiquitin-binding domain in the FANCD2 protein. Rego MA, Kolling FW, Vuono EA, Mauro M, Howlett NG. Blood. 2012 120:2109-17. [PubMed:22855611] [PMC:PMC3437598]

Assessment of FANCD2 nuclear foci formation in paraffin-embedded tumors: a potential patient-enrichment strategy for treatment with DNA interstrand crosslinking agents. Duan W, Gao L, Zhao W, Leon M, Sadee W, Webb A, Resnick K, Wu X, Ramaswamy B, Cohn DE, Shapiro C, Andreassen PR, Otterson GA, Villalona-Calero MA. Translational research : the journal of laboratory and clinical medicine. 2013 161:156-64. (ICC, IHC; Human) [PubMed:23063585]

Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4. Kim Y, Spitz GS, Veturi U, Lach FP, Auerbach AD, Smogorzewska A. Blood. 2013 121:54-63. [PubMed:23093618] [PMC:PMC3538331]

Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome. Ogi T, Walker S, Stiff T, Hobson E, Limsirichaikul S, Carpenter G, Prescott K, Suri M, Byrd PJ, Matsuse M, Mitsutake N, Nakazawa Y, Vasudevan P, Barrow M, Stewart GS, Taylor AM, O'Driscoll M, Jeggo PA. PLoS genetics. 2012 8:e1002945. (WB; Human) [PubMed:23144622] [PMC:PMC3493446]

CtIP is required to initiate replication-dependent interstrand crosslink repair. Duquette ML, Zhu Q, Taylor ER, Tsay AJ, Shi LZ, Berns MW, McGowan CH. PLoS genetics. 2012 8:e1003050. (ICC; Human) [PubMed:23144634] [PMC:PMC3493458]

Senataxin, defective in the neurodegenerative disorder ataxia with oculomotor apraxia 2, lies at the interface of transcription and the DNA damage response. Yce, West SC. Molecular and cellular biology. 2013 33:406-17. (ICC; Human) [PubMed:23149945] [PMC:PMC3554130]

Rev3, the catalytic subunit of Pol, is required for maintaining fragile site stability in human cells. Bhat A, Andersen PL, Qin Z, Xiao W. Nucleic acids research. 2013 41:2328-39. (ICC; Human) [PubMed:23303771] [PMC:PMC3575803]

Rad9, Rad17, TopBP1 and claspin play essential roles in heat-induced activation of ATR kinase and heat tolerance. Tuul M, Kitao H, Iimori M, Matsuoka K, Kiyonari S, Saeki H, Oki E, Morita M, Maehara Y. PloS one. 2013 8:e55361. [Full Text Article] [PubMed:23383325] [PMC:PMC3562228] Related Antibodies: LS-B493.

Significance of the Fanconi anemia FANCD2 protein in sporadic and metastatic human breast cancer. Rudland PS, Platt-Higgins AM, Davies LM, de Silva Rudland S, Wilson JB, Aladwani A, Winstanley JH, Barraclough DL, Barraclough R, West CR, Jones NJ. The American journal of pathology. 2010 Jun;176:2935-47. [Full Text Article] [PubMed:20363922] [PMC:PMC2877854] Related Antibodies: LS-B493.

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Gene Name:	Fanconi anemia, complementation group D2
Synonyms:	FANCD2, FA-D2, FAD, FACD, FA4, FAD2, FANCD, Protein FACD2
Target Sequences:	NM_033084 NP_149075.2 Q9BXW9

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Fanconi anemia, complementation group D2

Publications (55)

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