transforming growth factor beta (TGFB) Type II receptor (TGFBR2)
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Tumor suppressor protein
Inactivated in tumors.
Articles
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TGFBR2
3 September 2007 -
PTPRD
21 June 2007See also
9p23 LOH
References
Purdie KJ, Lambert SR, Teh MT, Chaplin T, Molloy G, Raghavan M, Kelsell DP, Leigh IM, Harwood CA, Proby CM, Young BD. Allelic imbalances and microdeletions affecting the PTPRD gene in cutaneous squamous cell carcinomas detected using single nucleotide polymorphism microarray analysis. Genes Chromosomes Cancer. 2007 Jul;46(7):661-9. PMID: #17420988# -
NME1
15 March 2007NM23
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AKT2
2 February 2007Definition: AKT2 (MIM.164731) is the isoform of AKT 1 and is enriched in insulin-responsive tissues and has been implicated in the metabolic actions of the hormone.
Pathology
An activating mutation of AKT2 and human hypoglycemia. (#21979934#)
AKT2 mutations and/or amplification in tumors ovarian carcinomas (#16839745#, #16721043#) pancreatic carcinomas (#14735903#) mammary carcinomas (#12032855#) embryonal rhabdomyosarcoma (#16790082#)
See also
AKTs
References
An activating (...) -
GATA3
24 May 2005GATA-3
PO
Definition: GATA3 is a zinc-finger transcription factor (ZFNs), which is expressed in various normal and neoplastic tissues.
GATA3 is a transcription factor important in the differentiation of breast epithelia, urothelia, and subsets of T-lymphocytes.
It has been suggested useful in the evaluation of mammary or urothelial origin or metastatic carcinomas. GATA3 is a useful marker in characterization not only mammary carcinomas and urothelial carcinoma but also for renal tumors (...) -
BCL2
29 October 2003MIM.151430 HGNC:990 WP PO
Definition: BCL2 is a proto-oncogene located at 18q21 that promotes B-cell survival via inhibition of apoptosis and confers chemotherapy resistance. BCL2 encodes 25 kDa protein, mainly localized to inner mitochondrial membrane; also endoplasmic reticulum and nuclear envelope.
Pathology
IGH/BCL2 reaerangement by t(14;18)(q32;q21) in follicular B-cell lymphoma (70-80% of cases) (14q32 and 18q21). BCL2 deregulation is most commonly associated with the t(14;18), (...) -
TP53
30 September 2003P53, p53
Definition: p53 is a nuclear phospho-protein which, in response to DNA damage, slows progression through the cell cycle and initiates apoptosis if damage is severe. The tumor suppressor gene TP53 is altered in the majority of cancers.
p53 is required for the G1/S checkpoint and is a main component of the G2/M checkpoint. The p53 protein causes cell-cycle arrest and apoptosis. It acts mainly through p21 to cause cell-cycle arrest.
It causes apoptosis by inducing the transcription (...) -
WT1
28 August 2003PO
Definition : The WT1 gene encodes a zinc finger DNA-binding protein that acts as a transcriptional activator or repressor depending on the cellular or chromosomal context. WT1 is required for normal formation of the genitourinary system and mesothelial tissues.
The WT1 protein is a transcriptional activator of genes involved in renal and gonadal differentiation. It regulates the mesenchymal to epithelial transition that occurs in kidney development.
Role in development
splenic (...) -
FLCN
27 November 2004folliculin, FLCL
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RB1
2 October 2003RB, Retinoblastoma protein WP
The retinoblastoma protein (protein name abbreviated pRb; gene name abbreviated RB or RB1) is a tumor suppressor protein that is dysfunctional in several major cancers.
One function of pRb is to prevent excessive cell growth by inhibiting cell cycle progression until a cell is ready to divide. When the cell is ready to divide, pRb is phosphorylated, becomes inactive and allows cell cycle progression. It is also a recruiter of several chromatin remodeling (...)