Written | 2008-01 | Tamotsu Takeuchi |
Department of Pathology, Kochi Medical School, Kohasu, Okou, Nankoku, Kochi 783 8505, Japan |
Identity |
Alias (NCBI) | FLJ20648 | FLJ39787 | ZZANK1 | ZZZ5 | Skeletrophin | novelzin |
HGNC (Hugo) | MIB2 |
HGNC Alias symb | skeletrophin | ZZZ5 | FLJ39787 |
HGNC Previous name | ZZANK1 |
HGNC Previous name | "zinc finger, ZZ type with ankyrin repeat domain 1 | mindbomb homolog 2 (Drosophila)" |
LocusID (NCBI) | 142678 |
Atlas_Id | 44179 |
Location | 1p36.33 [Link to chromosome band 1p36] |
Location_base_pair | Starts at 1615500 and ends at 1630605 bp from pter ( according to GRCh38/hg38-Dec_2013) [Mapping MIB2.png] |
Local_order | ATAD3A (ATPase family, AAA domain containing 3B), is more telomeric, CDC2L2 (cell division cycle 2-like 2) is more centromeric. |
Fusion genes (updated 2017) | Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands) |
FNDC11 (20q13.33) / MIB2 (1p36.33) | MIB2 (1p36.33) / LINC00235 (16p13.3) | MIB2 (1p36.33) / PLEKHN1 (1p36.33) | |
MIB2 (1p36.33) / PSMD3 (17q21.1) |
Note | Orientation: plus strand. |
DNA/RNA |
Note | There are at least six alternative splicing forms. |
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Genomic structure of Mib2/skeletrophin | |
Description | 20 Exons spanning 14kb on 1p36.33. |
Protein |
Note | The number of amino acids are varied in each splicing form. |
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Schematic illustrating of mib2/skeletrophin. | |
Expression | Human mib2/skeletrophin is strongly expressed in adult brain, heart and skeletal muscles. |
Localisation | Cytoplasmic |
Function | Ubiquitin ligase to cytoplasmic domain of Notch ligands and NMDA receptor GRIN2B/NR2B subunit. Putative positive regulation of I-kappaB kinase/NF-kappaB cascade. |
Homology | The protein structure of mib2/skeletrophin is closely related to MIB1 (mind bomb-1 homolog). |
Implicated in |
Note | |
Entity | Multiple myeloma, especially at advanced stage with osteolytic lesion. |
Oncogenesis | Putative oncogenic factor for multiple myeloma thorough bone marrow microenvironments. In multiple myeloma, Mib2/skeletrophin and its substrates, Jagged-1 and Jagged-2, are both overexpressed in bone marrow microenvironments. Ligands-dependent Notch activation is occurred by direct cell-cell interaction between multiple myeloma cells and bone marrow stromal cells and contribute the myeloma niche, which is known as microenvironment suitable for myelomagenesis. |
Bibliography |
Mind bomb-2 is an E3 ligase that ubiquitinates the N-methyl-D-aspartate receptor NR2B subunit in a phosphorylation-dependent manner. |
Jurd R, Thornton C, Wang J, Luong K, Phamluong K, Kharazia V, Gibb SL, Ron D |
The Journal of biological chemistry. 2008 ; 283 (1) : 301-310. |
PMID 17962190 |
Mind bomb-2 is an E3 ligase for Notch ligand. |
Koo BK, Yoon KJ, Yoo KW, Lim HS, Song R, So JH, Kim CH, Kong YY |
The Journal of biological chemistry. 2005 ; 280 (23) : 22335-22342. |
PMID 15824097 |
A ubiquitin ligase, skeletrophin, is a negative regulator of melanoma invasion. |
Takeuchi T, Adachi Y, Sonobe H, Furihata M, Ohtsuki Y |
Oncogene. 2006 ; 25 (53) : 7059-7069. |
PMID 16715130 |
Citation |
This paper should be referenced as such : |
Takeuchi, T |
MIB2 (mindbomb homolog 2 (Drosophila)) |
Atlas Genet Cytogenet Oncol Haematol. 2008;12(5):373-374. |
Free journal version : [ pdf ] [ DOI ] |
Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ] |
MIB2/PLEKHN1 (1p36)
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External links |
REVIEW articles | automatic search in PubMed |
Last year publications | automatic search in PubMed |
© Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Feb 19 17:54:40 CET 2021 |
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