A. Molecular pathology

• TEADs
  16 January

  Definition: The transcriptional enhancer factor (TEF) family of transcription factors, which contain the TEA/ATTS DNA-binding domain.
  Members of the family in mammals are TEADs : TEAD1 , TEAD2 , TEAD3 , TEAD4 .
  See also
  TFs : transcription factors

• TEAD1
  16 January

  WKP
  Definition: Transcriptional enhancer factor TEF-1 also known as TEA domain family member 1 (TEAD1) and transcription factor 13 (TCF-13) is a protein that in humans is encoded by the TEAD1 gene. TEAD1 was the first member of the TEADs family of transcription factors to be identified.
  Molecular biology
  Recurrent NCOA2 gene rearrangements in congenital/infantile-type spindle cell rhabdomyosarcoma (SRMS) (#23463663#) with SRF with TEAD1
  MYOD1 mutations in adult-type spindle cell (...)

• TGFBR3
  13 January

  |WKP|
  Definition: Betaglycan also known as Transforming growth factor beta receptor III (TGFBR3), is a cell-surface chondroitin sulfate / heparan sulfate proteoglycan >300 kDa in molecular weight.
  Betaglycan binds to various members of the TGF-beta superfamily of ligands via its core protein, and bFGF via its heparan sulfate chains. It is not involved directly in TGF-beta signal transduction but by binding to various member of the TGF-beta superfamily at the cell surface it acts as a (...)

• MGEA5
  13 January

  |WKP|
  Definition: Bifunctional protein NCOAT is a protein that in humans is encoded by the MGEA5 gene.
  Pathology
  Consistent t(1;10) with rearrangements of TGFBR3 and MGEA5 in : myxoinflammatory fibroblastic sarcoma (#21717526#) hemosiderotic fibrolipomatous tumor (#21717526#) PHAT pleomorphic hyalinizing angiectatic tumor
  Open References
  Consistent t(1;10) with rearrangements of TGFBR3 and MGEA5 in both myxoinflammatory fibroblastic sarcoma and hemosiderotic fibrolipomatous (...)

• EPC1
  13 January

  WKP
  Pathology
  EPC1-PHF1 gen fusion in ossifying fibromyxoid tumor (#24285434#)
  Open references
  Novel ZC3H7B-BCOR, MEAF6-PHF1, and EPC1-PHF1 fusions in ossifying fibromyxoid tumors—molecular characterization shows genetic overlap with endometrial stromal sarcoma. Antonescu CR, Sung YS, Chen CL, Zhang L, Chen HW, Singer S, Agaram NP, Sboner A, Fletcher CD. Genes Chromosomes Cancer. 2014 Feb;53(2):183-93. doi:10.1002/gcc.22132. PMID: #24285434# (...)

• PHFs
  13 January

  Definition: PHD finger genes (PHFs) are thought to belong to a diverse group of transcriptional regulators possibly affecting eukaryotic gene expression by influencing chromatin structure. Two transcript variants have been found for this gene.
  Pathology
  MEAF6-PHF1 gene fusion in ossifying fibromyxoid tumor
  Members
  PHF1 PHF2 PHF3 PHF4 PHF5 PHF6 PHF7 PHF8 PHF9 PHF10 PHF11 PHF12 PHF13 PHF14 PHF15 PHF16 PHF17 PHF18 PHF19 PHF20 PHF21A PHF21B
  Open references
  Novel ZC3H7B-BCOR, (...)

• PHF1
  13 January

  WKP
  Definition: PHD finger protein 1 is a protein that in humans is encoded by the PHF1 gene. This gene encodes a protein with significant sequence similarity to Drosophila Polycomblike. The encoded protein contains a zinc finger-like PHD (plant homeodomain) finger which is distinct from other classes of zinc finger motifs and which shows the typical Cys4-His-Cys3 arrangement.
  PHD finger genes are thought to belong to a diverse group of transcriptional regulators possibly affecting (...)

• MEAF6
  13 January

  WKP
  Definition: Chromatin modification-related protein MEAF6 is a protein that in humans is encoded by the MEAF6 gene.
  Pathology
  MEAF6-PHF1 gene fusion in ossifying fibromyxoid tumor
  Open references
  Novel ZC3H7B-BCOR, MEAF6-PHF1, and EPC1-PHF1 fusions in ossifying fibromyxoid tumors—molecular characterization shows genetic overlap with endometrial stromal sarcoma. Antonescu CR, Sung YS, Chen CL, Zhang L, Chen HW, Singer S, Agaram NP, Sboner A, Fletcher CD. Genes Chromosomes Cancer. (...)

• PBX3
  13 January

  |WKP|
  Pathology
  EWSR1-PBX3 gene fusion in myoepithelial tumor (#25231231#)
  Open references
  EWSR1-PBX3: a novel gene fusion in myoepithelial tumors.
  Agaram NP, Chen HW, Zhang L, Sung YS, Panicek D, Healey JH, Nielsen GP, Fletcher CD, Antonescu CR. Genes Chromosomes Cancer. 2015 Feb;54(2):63-71. doi:10.1002/gcc.22216. PMID: #25231231#

• MKL2
  13 January

  |WKP|
  Open references
  C11orf95-MKL2 is the resulting fusion oncogene of t(11;16)(q13;p13) in chondroid lipoma. Huang D, Sumegi J, Dal Cin P, Reith JD, Yasuda T, Nelson M, Muirhead D, Bridge JA. Genes Chromosomes Cancer. 2010 Sep;49(9):810-8. doi:10.1002/gcc.20788.
  PMID: #20607705# Free
  Paywall references
  Presence of C11orf95-MKL2 fusion is a consistent finding in chondroid lipomas: a study of eight cases. Flucke U, Tops BB, de Saint Aubain Somerhausen N, Bras J, Creytens DH, (...)

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