Janus activated kinase 2
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Mutated in tumors
Articles
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JAK2
8 November 2005 -
AIM2
31 August 2007AIM2 encodes a deduced 344-amino acid protein that contains a conserved sequence domain of approximately 200 amino acids shared with interferon-inducible genes as IFI16 (MIM.147586) and MNDA (MIM.159553) as well as a tyrosine kinase phosphorylation site.
Northern blot analysis revealed expression of a 2-kb AIM2 transcript in spleen, small intestine, and peripheral blood leukocytes as well as a slightly larger transcript in testis. Overexpression of AIM2 reversed the tumorigenic phenotype (...) -
GNAQ
29 April 2016WP
Guanine nucleotide-binding protein G(q) subunit alpha is a protein that in humans is encoded by the GNAQ gene. Together with GNA11 (its paralogue), it functions as a Gq alpha subunit.
Pathology
mutated in melanocytic tumors uveal and conjunctival melanoma.
Mosaic activating mutations in GNA11 and GNAQ are associated with phakomatosis pigmentovascularis and extensive dermal melanocytosis. (#26778290#)
Open references
Genetic profile of GNAQ-mutated blue melanocytic neoplasms (...) -
CDH1
20 December 2007E-cadherin, cadherin-1, uvomorulin, epithelial cadherin WP HGNC PO
Definition: Tumor suppressor gene CDH1 is at 16q22.1 Calcium-dependent transmembrane epithelial protein that promotes intercellular adhesion.
Cadherin-1 (cadherin-E) is a specific calcium ion-dependent cell adhesion molecule. E-cadherin is simultaneously a major cell-adhesion molecule, a tumour suppressor protein, a determinant of cell polarity and a partner to the potent catenin signalling molecules.
Its loss is (...) -
FLT3
29 October 2003FMS-like tyrosine kinase 3
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KRAS
14 April 2004Ki-ras, KRAS2
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HRAS
14 April 2004Pathology
Ras genes are the most common targets for somatic gain-of-function mutations in human cancer. Many of these mutant alleles encode proteins with aberrant biochemical and functional properties.
somatic mutations in:
colorectal adenocarcinoma
bladder carcinoma
thyroid follicular carcinoma
Spit nevus / Spitzoid tumors
malignant ectomesenchymoma (#26872011#)
Germline mutations that affect components of the Ras-Raf-mitogen-activated and extracellular-signal regulated (...) -
MSR1
6 October 2003macrophage scavenger receptor 1
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NF1
14 April 2004neurofibromin
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PALB2
23 February 2007Definition: PALB2 was identified as a nuclear binding partner of BRCA2. Biallelic BRCA2 mutations cause Fanconi anemia subtype FA-D1 and predispose to childhood malignancies.
PALB2 co-localizes with BRCA2 (MIM.600185) in nuclear foci, promotes its localization and stability in nuclear structures, and enables its recombinational repair and checkpoint functions. PALB2 is a nuclear binding partner of BRCA2.
Pathology
Biallelic BRCA2 mutations cause Fanconi anemia subtype FA-D1 and (...)