Definition: CD44 is a well characterized cellular adhesion molecule involved in several human malignancies. It is encoded by a gene located at 11p12-13.
Functions
CD44 binds hyaluronan. Mucin-like glycoproteins, such as heparan sulfate, serve as ligands for the leukocyte adhesion molecule called CD44. These glycoproteins are found in the extracellular matrix and on cell surfaces.
CD44 is expressed by lymphoid cells, and is involved in the extravasation of lymphoid cells, it does not (...)
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Amplified in tumors
Articles
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CD44
17 June 2003 -
EZH2
23 January 2006Enhancer of zeste homolog 2 (EZH2) WKP
Definition: Ezh2 is a polycomb group protein. EZH2 is known to function in histone methylation, thereby regulating gene expression.
Ezh2-containing complex has been given an additional role in cellular regulation. Cytosolic Ezh2 methyltransferase complexes were shown to associate with Vav1 and control receptor-induced actin polymerization and proliferation in a methylation-dependent manner.
Overall, lysine methylation is a posttranslational (...) -
IGF1R
7 January 2005Pathology
germline mutations in resistance to IGF1 (intrauterine growth retardation and subsequent short stature)
IGF1R overexpression by 15q25-26 amplification in tumors
pediatric malignant astrocytoma (#20068183#)
rhabdomyosarcomas
embryonal rhabdomyosarcoma
alveolar rhabdomyosarcoma
IGF1R overexpression without 15q25-26 amplicon amplification
pediatric gastrointestinal stromal tumors (pediatric GIST) (#20162573#)
Increased copy number at chromosome 15q26.3
correlation (...) -
WNT5B
18 January 2005Pathology
association with type 2 diabetes (#15386214#)
12p13 amplification in tumors pediatric malignant astrocytoma (#20068183#)
References
Oncogenic BRAF mutation with CDKN2A inactivation is characteristic of a subset of pediatric malignant astrocytomas. Schiffman JD, Hodgson JG, VandenBerg SR, Flaherty P, Polley MY, Yu M, Fisher PG, Rowitch DH, Ford JM, Berger MS, Ji H, Gutmann DH, James CD. Cancer Res. 2010 Jan 15;70(2):512-9. PMID: (...) -
FGFR1
18 January 2005Pathology
germ-line mutations of FGFR1
in Pfeiffer syndrome (MIM.101600)
in Kallmann syndrome with or without cleft lip/palate, or with bimanual synkinesia, or with multiple dental agenesis (MIM.147950)
in osteoglophonic dysplasia
isolated trigonocephaly (MIM.190440)
isolated trigonocephaly (MIM.190440)
fusion proteins in cellular proliferations
BCR-FGFR1 by t(8;22)(p12;q11) in chronic myeloid leukemia (FGFR1 at 8p12 and BCR ar 22q11)
CEP110-FGFR1 by t(8;9)(p12;q33) in (...) -
ERBB2
11 February 2006ERBB2 ; CD340; HER-2; HER-2/neu; HER2; MLN 19; NEU; NGL; TKR1; c-erbb2
The oncogene originally called HER/NEU was derived from rat neuro/glioblastoma cell lines. It encodes a tumor antigen, p185, which is serologically related to EGFR, the epidermal growth factor receptor (MIM.131550).
ERBB2 encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases (ERBBs).
ERBB2 has no ligand binding domain of its own and therefore cannot bind growth factors. (...) -
MITF
14 May 2005MIT
MITF code for a basic helix-loop-helix zipper protein that functions as a homodimeric transcription factor.
Microphthalmia-associated transcription factor (MITF) acts as a master regulator of melanocyte development, function and survival by modulating various differentiation and cell-cycle progression genes.
MITF is placed between instructing melanocytes towards terminal differentiation and/or pigmentation and, alternatively, promoting malignant behavior.
MITF (microphthalmia (...) -
GPC5
21 September 2004glypican-5, GLYPICAN 5, GPC5
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MYCN
18 April 2005NMYC, N-MYC
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REL
9 January 2007c-rel
