MIB2 (mindbomb homolog 2 (Drosophila))

2008-01-01   Tamotsu Takeuchi  

Department of Pathology, Kochi Medical School, Kohasu, Okou, Nankoku, Kochi 783 8505, Japan

Identity

HGNC
MIB2
LOCATION
1p36.33
LOCUSID
142678
ALIAS
ZZANK1,ZZZ5
FUSION GENES
Show Gene Fusions

DNA/RNA

Note

There are at least six alternative splicing forms.
Atlas Image
Genomic structure of Mib2/skeletrophin

Description

20 Exons spanning 14kb on 1p36.33.

Proteins

Note

The number of amino acids are varied in each splicing form.
Atlas Image
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

Entity name
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

Pubmed IDLast YearTitleAuthors

Other Information

Locus ID:

NCBI: 142678
MIM: 611141
HGNC: 30577
Ensembl: ENSG00000197530

Variants:

dbSNP: 142678
ClinVar: 142678
TCGA: ENSG00000197530
COSMIC: MIB2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197530ENST00000355826Q96AX9
ENSG00000197530ENST00000378708F2Z2L2
ENSG00000197530ENST00000378712Q96AX9
ENSG00000197530ENST00000483015J3QR95
ENSG00000197530ENST00000486072J3QLE0
ENSG00000197530ENST00000487053D6RAZ0
ENSG00000197530ENST00000489635D6RHY5
ENSG00000197530ENST00000502470D6R9Q6
ENSG00000197530ENST00000503789D6RFJ2
ENSG00000197530ENST00000504599E9PD12
ENSG00000197530ENST00000505820Q96AX9
ENSG00000197530ENST00000506488D6RED3
ENSG00000197530ENST00000510793D6RE96
ENSG00000197530ENST00000514234H0YAM8
ENSG00000197530ENST00000514363D6RDI1
ENSG00000197530ENST00000518681Q96AX9
ENSG00000197530ENST00000520777Q96AX9

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Signaling by NOTCH1 in CancerREACTOMER-HSA-2644603
Signaling by NOTCH1 HD Domain Mutants in CancerREACTOMER-HSA-2691230
Constitutive Signaling by NOTCH1 HD Domain MutantsREACTOMER-HSA-2691232
Signaling by NOTCH1 PEST Domain Mutants in CancerREACTOMER-HSA-2644602
Constitutive Signaling by NOTCH1 PEST Domain MutantsREACTOMER-HSA-2644606
Signaling by NOTCH1 HD+PEST Domain Mutants in CancerREACTOMER-HSA-2894858
Constitutive Signaling by NOTCH1 HD+PEST Domain MutantsREACTOMER-HSA-2894862
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168
Signal TransductionREACTOMER-HSA-162582
Signaling by NOTCHREACTOMER-HSA-157118
Signaling by NOTCH1REACTOMER-HSA-1980143
Activated NOTCH1 Transmits Signal to the NucleusREACTOMER-HSA-2122948
Signaling by NOTCH2REACTOMER-HSA-1980145
NOTCH2 Activation and Transmission of Signal to the NucleusREACTOMER-HSA-2979096

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
374366682023MIB2 promotes the progression of non-small cell lung cancer by regulating cell cycle control pathways.0
374366682023MIB2 promotes the progression of non-small cell lung cancer by regulating cell cycle control pathways.0
349719482022E3 ubiquitin-protein ligase 2 inhibits cell proliferation, migration, and invasion of non-small cell lung cancer through ubiquitination of Notch1.2
349719482022E3 ubiquitin-protein ligase 2 inhibits cell proliferation, migration, and invasion of non-small cell lung cancer through ubiquitination of Notch1.2
334691152021MIND bomb 2 prevents RIPK1 kinase activity-dependent and -independent apoptosis through ubiquitylation of cFLIP(L).8
334691152021MIND bomb 2 prevents RIPK1 kinase activity-dependent and -independent apoptosis through ubiquitylation of cFLIP(L).8
313667262019The E3 ubiquitin ligase MIB2 enhances inflammation by degrading the deubiquitinating enzyme CYLD.14
313667262019The E3 ubiquitin ligase MIB2 enhances inflammation by degrading the deubiquitinating enzyme CYLD.14
296420052018Mind Bomb Regulates Cell Death during TNF Signaling by Suppressing RIPK1's Cytotoxic Potential.29
296420052018Mind Bomb Regulates Cell Death during TNF Signaling by Suppressing RIPK1's Cytotoxic Potential.29
280132922017MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Ménétrier-like gastropathy.4
280132922017MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Ménétrier-like gastropathy.4
251426062014Lysine 63-linked TANK-binding kinase 1 ubiquitination by mindbomb E3 ubiquitin protein ligase 2 is mediated by the mitochondrial antiviral signaling protein.28
255656322014The cylindromatosis gene product, CYLD, interacts with MIB2 to regulate notch signalling.13
251426062014Lysine 63-linked TANK-binding kinase 1 ubiquitination by mindbomb E3 ubiquitin protein ligase 2 is mediated by the mitochondrial antiviral signaling protein.28

Citation

Tamotsu Takeuchi

MIB2 (mindbomb homolog 2 (Drosophila))

Atlas Genet Cytogenet Oncol Haematol. 2008-01-01

Online version: http://atlasgeneticsoncology.org/gene/44179/humanGenome