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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
  • RING-Type E3 Ubiquitin Transferase MIB2 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 2.3.2.27 4
  • 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

Entrez Gene Summary for MIB2 Gene

  • The protein encoded by this gene is an E3 ubiquitin protein ligase that mediates ubiquitination of proteins in the Notch signaling pathway. The encoded protein may be a suppressor of melanoma invasion. [provided by RefSeq, Mar 2017]

GeneCards Summary for MIB2 Gene

MIB2 (Mindbomb E3 Ubiquitin Protein Ligase 2) is a Protein Coding gene. Diseases associated with MIB2 include Gastritis, Familial Giant Hypertrophic and Left Ventricular Noncompaction. Among its related pathways are NOTCH2 Activation and Transmission of Signal to the Nucleus and Class I MHC mediated antigen processing and presentation. Gene Ontology (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.

Gene Wiki entry for MIB2 Gene

Additional gene information for MIB2 Gene

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

Genomics for MIB2 Gene

GeneHancer (GH) Regulatory Elements for MIB2 Gene

Promoters and enhancers for MIB2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J001613 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 +0.4 433 3.9 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 YBX1 ZNF2 SLC30A9 POLR2B ENSG00000272106 GC01M001661 MIB2 SLC35E2B ATAD3B LOC100129381 SLC35E2A INTS11 ENSG00000229905 WBP1LP6
GH01J002411 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 11.2 +799.5 799456 5.8 HDGF MLX ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B E2F8 ZNF207 PLCH2 PEX10 MORN1 SLC35E2A LOC100129381 ATAD3B LOC100129534 FAAP20 MIB2 SLC35E2B
GH01J000998 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.2 -614.5 -614486 3.8 CLOCK MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 ISG15 HES4 ATAD3B WASH7P INTS11 ENSG00000230092 ENSG00000240731 CDK11A CCNL2 LOC100288379
GH01J001303 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.3 -307.8 -307770 6.9 PKNOX1 CLOCK MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 PUSL1 ACAP3 ATAD3B INTS11 ENSG00000240731 SLC35E2A CCNL2 LINC00115 FAAP20 LOC100288379
GH01J001624 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 8.6 +16.7 16689 14.4 HDGF PKNOX1 SREBF2 KLF17 SIN3A KLF5 ZNF335 GLIS2 ZNF207 ZNF143 MMP23B SLC35E2B LOC100288379 SLC35E2A MIB2 LOC100129381 ENSG00000272106 CDK11B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MIB2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MIB2 gene promoter:
  • AP-1
  • JunD
  • Max1
  • GATA-1
  • c-Fos
  • c-Jun
  • JunB
  • FosB
  • Fra-1
  • AREB6

Genomic Locations for MIB2 Gene

Genomic Locations for MIB2 Gene
chr1:1,614,975-1,630,610
(GRCh38/hg38)
Size:
15,636 bases
Orientation:
Plus strand
chr1:1,550,795-1,565,990
(GRCh37/hg19)
Size:
15,196 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

Post-translational modifications for MIB2 Gene

  • Ubiquitinated. Possibly via autoubiquitination (By similarity).
  • Ubiquitination at posLast=842842 and posLast=427427
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MIB2 Gene

Domains & Families for MIB2 Gene

Gene Families for MIB2 Gene

Graphical View of Domain Structure for InterPro Entry

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

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

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.
UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
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 obsolete signal transducer activity HMP --
GO:0005515 protein binding IPI,IEA 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:
  • Mib2 Mib2<tm1a(EUCOMM)Wtsi>
  • Mib2 Mib2<tm1Art>
  • Mib2 Mib2<tm1Kong>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MIB2

Clone Products

  • Addgene plasmids for MIB2

No data available for Phenotypes From GWAS Catalog , 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 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MIB2 Gene

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,IBA --
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling HMP 12761501
genes like me logo Genes that share ontologies with MIB2: view

Drugs & Compounds for MIB2 Gene

No Compound Related Data Available

Transcripts for MIB2 Gene

Unigene Clusters for MIB2 Gene

Mindbomb E3 ubiquitin protein ligase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MIB2

Clone Products

  • Addgene plasmids for MIB2

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 CGAP 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, 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.

Evidence on tissue expression from TISSUES for MIB2 Gene

  • Nervous system(4.7)
  • Lung(4.4)
  • Spleen(4.3)
  • Heart(4.2)
  • Liver(4.2)
  • Pancreas(3)
genes like me logo Genes that share expression patterns with MIB2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 93.31 (n)
dog
(Canis familiaris)
Mammalia MIB2 34 33
  • 89.39 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MIB2 34 33
  • 86.99 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mib2 16 34 33
  • 85.49 (n)
rat
(Rattus norvegicus)
Mammalia Mib2 33
  • 85.1 (n)
oppossum
(Monodelphis domestica)
Mammalia MIB2 34
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 68 (a)
OneToMany
-- 34
  • 64 (a)
OneToMany
chicken
(Gallus gallus)
Aves MIB2 34 33
  • 67.16 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MIB2 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mib2 33
  • 63.82 (n)
zebrafish
(Danio rerio)
Actinopterygii mib2 33
  • 66.9 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008851 33
  • 56.26 (n)
fruit fly
(Drosophila melanogaster)
Insecta mib2 34 33
  • 53.3 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for MIB2: view image

Paralogs for MIB2 Gene

Paralogs for MIB2 Gene

(8) SIMAP similar genes for MIB2 Gene using alignment to 13 proteins:

  • MIB2_HUMAN
  • D6R9Q6_HUMAN
  • D6RAZ0_HUMAN
  • D6RDI1_HUMAN
  • D6RE96_HUMAN
  • D6RED3_HUMAN
  • D6RFJ2_HUMAN
  • D6RHY5_HUMAN
  • E9PD12_HUMAN
  • F2Z2L2_HUMAN
  • H0YAM8_HUMAN
  • J3QLE0_HUMAN
  • J3QR95_HUMAN
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 Variation AA Info Type
rs199741261 likely-benign, not specified 1,615,612(+) C/A 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, stop_gained, upstream_transcript_variant
rs1000005080 -- 1,620,208(+) T/A intron_variant
rs1000045042 -- 1,629,852(+) A/C intron_variant
rs1000066132 -- 1,614,974(+) C/A upstream_transcript_variant
rs1000071654 -- 1,621,197(+) G/T intron_variant

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

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

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)

Additional Variant Information for MIB2 Gene

Human Gene Mutation Database (HGMD)
MIB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MIB2

SNP Genotyping and Copy Number Assay Products

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: HGMD, Orphanet, and DISEASES

Disorder Aliases PubMed IDs
gastritis, familial giant hypertrophic
  • menetrier disease
left ventricular noncompaction
  • left ventricular hypertrabeculation
- elite association - COSMIC cancer census association via MalaCards
Search MIB2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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. Down-regulation of a novel actin-binding molecule, skeletrophin, in malignant melanoma. (PMID: 14507647) Takeuchi T … Ohtsuki Y (The American journal of pathology 2003) 3 4 22 58
  2. 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 58
  3. A ubiquitin ligase, skeletrophin, is a negative regulator of melanoma invasion. (PMID: 16715130) Takeuchi T … Ohtsuki Y (Oncogene 2006) 3 22 58
  4. Skeletrophin, a novel ubiquitin ligase to the intracellular region of Jagged-2, is aberrantly expressed in multiple myeloma. (PMID: 15920166) Takeuchi T … Ohtsuki Y (The American journal of pathology 2005) 3 22 58
  5. Skeletrophin, a novel RING molecule controlled by the chromatin remodeling complex, is downregulated in malignant melanoma. (PMID: 15869411) Takeuchi T … Ohtsuki Y (DNA and cell biology 2005) 3 22 58

Products for MIB2 Gene

Sources for MIB2 Gene

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