MGP Database

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MGP003394

UniProt Annotations

Entry Information
Gene Namezinc finger, MYM-type 2
Protein EntryZMYM2_HUMAN
UniProt IDQ9UBW7
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UBW7-1; Sequence=Displayed; Name=2; IsoId=Q9UBW7-2; Sequence=VSP_039065, VSP_039066, VSP_039067;
DiseaseNote=A chromosomal aberration involving ZMYM2 may be a cause of stem cell leukemia lymphoma syndrome (SCLL). Translocation t(8;13)(p11;q12) with FGFR1. SCLL usually presents as lymphoblastic lymphoma in association with a myeloproliferative disorder, often accompanied by pronounced peripheral eosinophilia and/or prominent eosinophilic infiltrates in the affected bone marrow.
FunctionMay function as a transcription factor.
Sequence CautionSequence=AAB88464.1; Type=Frameshift; Positions=330, 966, 1009, 1017; Evidence={ECO:0000305}; Sequence=AAC23591.1; Type=Frameshift; Positions=330; Evidence={ECO:0000305}; Sequence=CAA73875.1; Type=Frameshift; Positions=388, 403, 406, 409, 418; Evidence={ECO:0000305};
SimilarityContains 9 MYM-type zinc fingers. {ECO:0000305}.
Subcellular LocationNucleus {ECO:0000305}.
SubunitMay be a component of a BHC histone deacetylase complex that contains HDAC1, HDAC2, HMG20B/BRAF35, KDM1A, RCOR1/CoREST, PHF21A/BHC80, ZMYM2, ZNF217, ZMYM3, GSE1 and GTF2I. {ECO:0000269|PubMed:12493763}.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ZNF198ID114.html";
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