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Aliases for MIB2 Gene

Aliases for MIB2 Gene

  • Mindbomb E3 Ubiquitin Protein Ligase 2 2 3 5
  • Zinc Finger ZZ Type With Ankyrin Repeat Domain Protein 1 3 4
  • Zinc Finger, ZZ Type With Ankyrin Repeat Domain 1 2 3
  • Putative NF-Kappa-B-Activating Protein 002N 3 4
  • Novel Zinc Finger Protein 3 4
  • Mind Bomb Homolog 2 3 4
  • Skeletrophin 3 4
  • Novelzin 3 4
  • ZZANK1 3 4
  • E3 Ubiquitin-Protein Ligase MIB2 3
  • Mindbomb Homolog 2 (Drosophila) 2
  • Mindbomb Homolog 2 3
  • EC 6.3.2.13 61
  • EC 6.3.2.- 4
  • EC 6.3.2 61
  • ZZZ5 3
  • SKD 4

External Ids for MIB2 Gene

Previous HGNC Symbols for MIB2 Gene

  • ZZANK1

Previous GeneCards Identifiers for MIB2 Gene

  • GC01P9N0043
  • GC01P001540
  • GC01P000824
  • GC01P001550

Summaries for MIB2 Gene

GeneCards Summary for MIB2 Gene

MIB2 (Mindbomb E3 Ubiquitin Protein Ligase 2) is a Protein Coding gene. Diseases associated with MIB2 include Left Ventricular Noncompaction and Malignant Melanoma, Somatic. Among its related pathways are Immune System and HIV Life Cycle. GO annotations related to this gene include actin binding and ubiquitin-protein transferase activity. An important paralog of this gene is MIB1.

UniProtKB/Swiss-Prot for MIB2 Gene

  • E3 ubiquitin-protein ligase that mediates ubiquitination of Delta receptors, which act as ligands of Notch proteins. Positively regulates the Delta-mediated Notch signaling by ubiquitinating the intracellular domain of Delta, leading to endocytosis of Delta receptors (By similarity).

Gene Wiki entry for MIB2 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MIB2 Gene

Genomics for MIB2 Gene

Regulatory Elements for MIB2 Gene


Enhancers around MIB2 on UCSC Golden Path with GeneCards custom track

Promoters for MIB2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000529041 325 3001 PKNOX1 CREB3L1 MLX ARID4B SIN3A YBX1 DMAP1 ZNF2 SLC30A9 ZNF143

Genomic Location for MIB2 Gene

Chromosome:
1
Start:
1,614,975 bp from pter
End:
1,630,610 bp from pter
Size:
15,636 bases
Orientation:
Plus strand

Genomic View for MIB2 Gene

Genes around MIB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MIB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MIB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MIB2 Gene

Proteins for MIB2 Gene

  • Protein details for MIB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96AX9-MIB2_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase MIB2
    Protein Accession:
    Q96AX9
    Secondary Accessions:
    • A2AGM5
    • A2AGM6
    • B3KV93
    • B3KVF4
    • B3KXY1
    • B4DZ57
    • E9PGU1
    • E9PHQ1
    • F8WA73
    • J3KNZ7
    • Q7Z437
    • Q8IY62
    • Q8N786
    • Q8N897
    • Q8N8R2
    • Q8N911
    • Q8NB36
    • Q8NCY1
    • Q8NG59
    • Q8NG60
    • Q8NG61
    • Q8NI59
    • Q8WYN1

    Protein attributes for MIB2 Gene

    Size:
    1013 amino acids
    Molecular mass:
    109939 Da
    Quaternary structure:
    • Interacts with actin monomer.
    SequenceCaution:
    • Sequence=AAH16490.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB82979.1; Type=Frameshift; Positions=193, 205; Evidence={ECO:0000305}; Sequence=BAC03707.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC04646.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC04752.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC04952.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for MIB2 Gene

neXtProt entry for MIB2 Gene

Selected DME Specific Peptides for MIB2 Gene

Q96AX9:
  • FQGAKVVRGPDWEWG
  • LVFQCGHG
  • KILARARQLVD
  • AVQRGFL
  • RGMRWKC
  • KKEDGFTALHLAALNNH
  • TVVVQWDQG
  • ETRWTFHPGALTK
  • RRMKKCI
  • RVVRGVDW
  • KNQGRTALQ
  • RYRQMEERITCPICID

Post-translational modifications for MIB2 Gene

  • Ubiquitinated. Possibly via autoubiquitination (By similarity).
  • Ubiquitination at Lys 427 and Lys 842
  • Modification sites at PhosphoSitePlus

Domains & Families for MIB2 Gene

Graphical View of Domain Structure for InterPro Entry

Q96AX9

UniProtKB/Swiss-Prot:

MIB2_HUMAN :
  • Contains 2 MIB/HERC2 domains.
  • Contains 9 ANK repeats.
Domain:
  • Contains 2 MIB/HERC2 domains.
Similarity:
  • Contains 9 ANK repeats.
  • Contains 2 RING-type zinc fingers.
  • Contains 1 ZZ-type zinc finger.
genes like me logo Genes that share domains with MIB2: view

Function for MIB2 Gene

Molecular function for MIB2 Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase that mediates ubiquitination of Delta receptors, which act as ligands of Notch proteins. Positively regulates the Delta-mediated Notch signaling by ubiquitinating the intracellular domain of Delta, leading to endocytosis of Delta receptors (By similarity).
UniProtKB/Swiss-Prot Induction:
Down-regulated in many primary skin melanomas. Treatment with a demethylating agent, 5-aza-2-deoxycytidine, restores expression, suggesting that down-regulation is the result of methylation of the gene.

Enzyme Numbers (IUBMB) for MIB2 Gene

Gene Ontology (GO) - Molecular Function for MIB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0004842 ubiquitin-protein transferase activity IEA,TAS --
GO:0004871 signal transducer activity IMP 12761501
GO:0005515 protein binding IPI 21903422
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with MIB2: view
genes like me logo Genes that share phenotypes with MIB2: view

Animal Models for MIB2 Gene

MGI Knock Outs for MIB2:

Animal Model Products

Clone Products

  • Addgene plasmids for MIB2

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MIB2 Gene

Localization for MIB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MIB2 Gene

Cytoplasm. Endosome. Note=Colocalizes with endosomal compartments.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MIB2 gene
Compartment Confidence
cytosol 5
endosome 2
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for MIB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IEA --
GO:0005737 cytoplasm IEA,IBA --
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MIB2: view

Pathways & Interactions for MIB2 Gene

genes like me logo Genes that share pathways with MIB2: view

UniProtKB/Swiss-Prot Q96AX9-MIB2_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for MIB2 Gene

Activates:

Gene Ontology (GO) - Biological Process for MIB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS --
GO:0007219 Notch signaling pathway IEA --
GO:0016567 protein ubiquitination IEA --
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling IMP 12761501
genes like me logo Genes that share ontologies with MIB2: view

Transcripts for MIB2 Gene

Unigene Clusters for MIB2 Gene

Mindbomb E3 ubiquitin protein ligase 2:
Representative Sequences:

Clone Products

  • Addgene plasmids for MIB2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MIB2 Gene

No ASD Table

Relevant External Links for MIB2 Gene

GeneLoc Exon Structure for
MIB2
ECgene alternative splicing isoforms for
MIB2

Expression for MIB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MIB2 Gene

Protein differential expression in normal tissues from HIPED for MIB2 Gene

This gene is overexpressed in Pancreas (24.2), Bone (18.2), Heart (10.8), and Liver, secretome (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MIB2 Gene



NURSA nuclear receptor signaling pathways regulating expression of MIB2 Gene:

MIB2

SOURCE GeneReport for Unigene cluster for MIB2 Gene:

Hs.135805

mRNA Expression by UniProt/SwissProt for MIB2 Gene:

Q96AX9-MIB2_HUMAN
Tissue specificity: Expressed in skeletal muscle, and to a lesser extent in heart, brain and kidney.
genes like me logo Genes that share expression patterns with MIB2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for MIB2 Gene

Orthologs for MIB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MIB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MIB2 34
  • 93.31 (n)
dog
(Canis familiaris)
Mammalia MIB2 34 35
  • 89.39 (n)
cow
(Bos Taurus)
Mammalia MIB2 34 35
  • 86.99 (n)
mouse
(Mus musculus)
Mammalia Mib2 34 16 35
  • 85.49 (n)
rat
(Rattus norvegicus)
Mammalia Mib2 34
  • 85.1 (n)
oppossum
(Monodelphis domestica)
Mammalia MIB2 35
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 68 (a)
OneToMany
-- 35
  • 64 (a)
OneToMany
chicken
(Gallus gallus)
Aves MIB2 34 35
  • 67.16 (n)
lizard
(Anolis carolinensis)
Reptilia MIB2 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mib2 34
  • 63.82 (n)
zebrafish
(Danio rerio)
Actinopterygii mib2 34
  • 66.9 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008851 34
  • 56.26 (n)
fruit fly
(Drosophila melanogaster)
Insecta mib2 34 35
  • 53.3 (n)
Species where no ortholog for MIB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MIB2 Gene

ENSEMBL:
Gene Tree for MIB2 (if available)
TreeFam:
Gene Tree for MIB2 (if available)

Paralogs for MIB2 Gene

Paralogs for MIB2 Gene

genes like me logo Genes that share paralogs with MIB2: view

Variants for MIB2 Gene

Sequence variations from dbSNP and Humsavar for MIB2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs199741261 Likely benign 1,615,612(+) CGATG(A/C)GGGCC nc-transcript-variant, upstream-variant-2KB, reference, stop-gained, utr-variant-5-prime
rs111513309 -- 1,613,498(+) CAGAA(A/G)GCAGA upstream-variant-2KB
rs111594888 -- 1,625,961(+) GGCTA(A/G)GATGC intron-variant, reference, missense
rs111715097 -- 1,616,048(+) CCGCG(C/T)CCCCG intron-variant, reference, missense, utr-variant-5-prime
rs111776141 -- 1,630,762(+) GCGGC(C/G)TTCGG intron-variant, downstream-variant-500B, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for MIB2 Gene

Variant ID Type Subtype PubMed ID
nsv950452 CNV deletion 24416366
nsv822031 CNV loss 20364138
nsv545017 CNV loss 21841781
nsv482937 CNV loss 15286789
nsv1160797 CNV duplication 26073780
nsv1136057 CNV deletion 24896259
nsv1074993 CNV deletion 25765185
nsv1074054 CNV deletion 25765185
nsv10161 CNV gain+loss 18304495
esv3575582 CNV gain 25503493
esv2760410 CNV gain+loss 21179565
esv2758913 CNV gain+loss 17122850
esv2661270 CNV deletion 23128226
esv2659399 CNV deletion 23128226
dgv8n100 CNV loss 25217958
dgv5n111 CNV deletion 26073780

Variation tolerance for MIB2 Gene

Residual Variation Intolerance Score: 85.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.26; 85.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MIB2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MIB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MIB2 Gene

Disorders for MIB2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MIB2 Gene - From: DISEASES and Novoseek

Disorder Aliases PubMed IDs
left ventricular noncompaction
  • left ventricular hypertrabeculation
malignant melanoma, somatic
  • dysplastic nevus syndrome
- elite association - COSMIC cancer census association via MalaCards
Search MIB2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MIB2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MIB2
genes like me logo Genes that share disorders with MIB2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MIB2 Gene

Publications for MIB2 Gene

  1. Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways. (PMID: 12761501) Matsuda A. … Sugano S. (Oncogene 2003) 2 3 4 64
  2. Down-regulation of a novel actin-binding molecule, skeletrophin, in malignant melanoma. (PMID: 14507647) Takeuchi T. … Ohtsuki Y. (Am. J. Pathol. 2003) 3 4 22 64
  3. A ubiquitin ligase, skeletrophin, is a negative regulator of melanoma invasion. (PMID: 16715130) Takeuchi T. … Ohtsuki Y. (Oncogene 2006) 3 22 64
  4. Skeletrophin, a novel RING molecule controlled by the chromatin remodeling complex, is downregulated in malignant melanoma. (PMID: 15869411) Takeuchi T. … Ohtsuki Y. (DNA Cell Biol. 2005) 3 22 64
  5. Skeletrophin, a novel ubiquitin ligase to the intracellular region of Jagged-2, is aberrantly expressed in multiple myeloma. (PMID: 15920166) Takeuchi T. … Ohtsuki Y. (Am. J. Pathol. 2005) 3 22 64

Products for MIB2 Gene

Sources for MIB2 Gene

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