| Written | 2008-01 | Tamotsu Takeuchi |
| Department of Pathology, Kochi Medical School, Kohasu, Okou, Nankoku, Kochi 783 8505, Japan |
| Identity |
| Alias_names | ZZANK1 |
| zinc finger, ZZ type with ankyrin repeat domain 1 | |
| mindbomb homolog 2 (Drosophila) | |
| Alias_symbol (synonym) | skeletrophin |
| ZZZ5 | |
| FLJ39787 | |
| Other alias | FLJ20648 |
| Skeletrophin | |
| novelzin | |
| HGNC (Hugo) | MIB2 |
| LocusID (NCBI) | 142678 |
| Atlas_Id | 44179 |
| Location | 1p36.33 [Link to chromosome band 1p36] |
| Location_base_pair | Starts at 1615415 and ends at 1630610 bp from pter ( according to hg19-Feb_2009) [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. |
 | |
| 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. |
 | |
| 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 ] |
| On line version : http://AtlasGeneticsOncology.org/Genes/MIB2ID44179ch1p36.html |
| Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ] |
|
t(1;1)(p36;p36) MIB2/PLEKHN1
|
| 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 : Mon Jul 16 09:53:16 CEST 2018 |
For comments and suggestions or contributions, please contact us