Genes (27)
Species:
human : 27 | |
| Human | C19orf40 | 91442 | chromosome 19 open reading frame 40 | DNA damage recognition and remodeling activities of FANCM and FAAP24 cooperate to promote efficient activation of DNA damage checkpoints in Fanconi anemia | | Human | BRIP1 | 83990 | BRCA1 interacting protein C-terminal helicase 1 | Single Nucleotide Polymorphism in BRIP1 is associated with Fanconi anemia BACH1 is FANCJ in a Fanconi anemia patient | | Human | PALB2 | 79728 | partner and localizer of BRCA2 | The results show that PALB2 is a breast cancer susceptibility gene and further demonstrate the close relationship of the Fanconi anemia-DNA repair pathway and breast cancer predisposition we show that a defect in the BRCA2-interacting protein PALB2 is associated with Fanconi anemia in an individual with a new subtype We identified pathogenic mutations in PALB2 (also known as FANCN) in seven families affected with Fanconi anemia and cancer in early childhood, demonstrating that biallelic PALB2 mutations cause a new subtype of Fanconi anemia, FA-N | | Human | FANCI | 55215 | Fanconi anemia, complementation group I | Results suggest that the multiple phosphorylation of FANCI serves as a molecular switch in activation of the Fanconi anemia pathway FANCI, a member of the Fanconi anemia pathway, is monoubiquitinated in a site-specific and DNA damage dependent manner | | Human | FANCL | 55120 | Fanconi anemia, complementation group L | data suggest that PHF9 has a crucial role in the Fanconi anemia pathway as the likely catalytic subunit required for monoubiquitination of FANCD2 | | Human | UBE2T | 29089 | ubiquitin-conjugating enzyme E2T (putative) | UBE2T is the ubiquitin-conjugating enzyme (E2) in the Fanconi anemia pathway and has a self-inactivation mechanism that could be important for negative regulation of the Fanconi anemia pathway | | Human | USP1 | 7398 | ubiquitin specific peptidase 1 | USP1 deubiquitinates FANCD2 protein when cells exit S phase or recommence cycling after a DNA damage insult and may play a critical role in the Fanconi anemia pathway by recycling FANCD2 | | Human | TP73 | 7161 | tumor protein p73 | Data demonstrate that DNA methylation contributes to increased levels of p73 in Fanconi anemia cells by hampering the binding of the transcriptional repressor ZEB to an intronic regulatory region of the p73 gene | | Human | TNF | 7124 | tumor necrosis factor | Fanconi anemia is characterized by an overproduction of the myelosuppressive cytokine TNF-alpha through unknown mechanisms Fanconi anemia subjects have a marrow TNF-alpha activity that inhibits erythropoiesis so TNF-alpha has a relevant role in the pathogenesis of erythroid failure in these patients | | Human | SPTAN1 | 6709 | spectrin, alpha, non-erythrocytic 1 | Fanconi anemia cell lines deficient in alphaII spectrin express normal levels of alphaII spectrin mRNA These studies indicate that alphaSpIISigma( *) may play a role in a number of diverse and important processes in the nucleus and that a deficiency in this protein, as occurs in Fanconi's anemia, could affect a number of critical cellular pathways | | Human | NBN | 4683 | nibrin | The transient slow-down of DNA synthesis was abolished in cells lacking ATR, whereas CHK1-siRNA-treated cells, NBS1 or Fanconi anemia cells showed partial S-phase arrest | | Human | IFNG | 3458 | interferon, gamma | TNF-alpha and IFN-gamma were significantly overexpressed in stimulated marrow marrow mononuclear cells of Fanconi anemia patients as compared to healthy controls | | Human | HSP90AA1 | 3320 | heat shock protein 90kDa alpha (cytosolic), class A member 1 | Hsp90 promotes activation of the Fanconi anemia pathway through regulation of intracellular turnover and trafficking of FANCA | | Human | FANCG | 2189 | Fanconi anemia, complementation group G | There is remarkably lage sequence variation in FANCG gene mutations and polymorphisms across ethnic and racial backgrounds found in the International Fanconi Anemia Registry they include IVS8-2A>G, IVS11+1G>c, 1794_1803del10, and IVS3+1G>C Primary fibroblasts from patients with Fanconi anemia with reduced FANCG expression show no signs of telomere dysfunction A unique Fanconi-anemia-causing mutation, FANCG splice-site mutation IVS4+3A>G, showed exon 4 skipping | | Human | FANCB | 2187 | Fanconi anemia, complementation group B | the protein defective in individuals with Fanconi anemia belonging to complementation group B is an essential component of the nuclear protein 'core complex' responsible for monoubiquitination of FANCD2 summary of recent advances in the Fanconi anemia-BRCA network with emphasis on the new discovery of FAAP95 as the true FANCB gene [review] | | Human | FANCE | 2178 | Fanconi anemia, complementation group E | Disease-associated mutations disrupt the FANCE-FANCD2 interaction, providing structural insight into the molecular mechanisms of Fanconi Anaemia pathogenesis FANCC, FANCE, and FANCD2 form a ternary complex in the Fanconi anemia DNA damage response pathway | | Human | FANCD2 | 2177 | Fanconi anemia, complementation group D2 | Study found that Fanconi anemia pathway activation is triggered mainly by the HPV type 16 (HPV-16) E7 oncoprotein and is associated with an enhanced formation of large FANCD2 foci and recruitment of FANCD2 as well as FANCD1/BRCA2 to chromatin FANCC, FANCE, and FANCD2 form a ternary complex in the Fanconi anemia DNA damage response pathway Loss of CHK1 function impedes DNA dmage-induced FANCD2 monoubiquitination but normalizes the abnormal G2 arrest in Fanconi anemia Human Fanconi anemia monoubiquitination pathway promotes homologous DNA repair | | Human | FANCC | 2176 | Fanconi anemia, complementation group C | spontaneous SCE levels were elevated approximately 2-fold in cells deficient in Fanconi anemia gene FANCC FANCC, FANCE, and FANCD2 form a ternary complex in the Fanconi anemia DNA damage response pathway Fanconi anemia C gene product regulates expression of genes involved in differentiation and inflammation | | Human | FANCA | 2175 | Fanconi anemia, complementation group A | used to subtype Fanconi anemia T cells Results describe upregulated ATM gene expression and activated DNA crosslink-induced damage response checkpoints in Fanconi anemia with FANCA mutations, and the implications for carcinogenesis | | Human | MECOM | 2122 | MDS1 and EVI1 complex locus | Overexpressed in Fanconi anemia-derived acute myeloid leukemia | | Human | ERCC4 | 2072 | excision repair cross-complementing rodent repair deficiency, complementation group 4 | Data show that incision deficiency correlates with reduced levels of DNA repair synthesis in Fanconi anemia cells and is not due to reduced levels of XPF | | Human | COX6B1 | 1340 | cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) | 'De Toni-Fanconi-Debre' syndrome | | Human | CHEK1 | 1111 | checkpoint kinase 1 | Loss of CHK1 function impedes DNA damage-induced FANCD2 monoubiquitination but normalizes the abnormal G2 arrest in Fanconi anemia | | Human | CDC42 | 998 | cell division cycle 42 | Fanconi anemia group A proteins influence BM progenitor homing and adhesion via the small GTPase Cdc42-regulated signaling pathway | | Human | BRCA2 | 675 | breast cancer 2, early onset | cell lines derived from Fanconi anemia B and D1 patients have biallelic mutations in BRCA2 and express truncated BRCA2 proteins The small group of patients with biallelic mutations in BRCA2 is distinctive in the severity of the phenotype, and early onset and high rates of leukaemia and specific solid tumours, and may comprise an extreme variant of Fanconi anaemia |
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