MIB2 (MIB E3 ubiquitin protein ligase 2)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 142678
Gene name MIB E3 ubiquitin protein ligase 2
Gene symbol MIB2
Synonyms (NCBI Gene)
ZZANK1ZZZ5
Chromosome 1
Chromosome location 1p36.33
Summary 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]
miRNA miRNA information provided by mirtarbase database.
26
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (26)
miRTarBase ID miRNA Experiments Reference
MIRT018014 hsa-miR-335-5p Microarray 18185580
MIRT042577 hsa-miR-423-3p CLASH 23622248
MIRT487751 hsa-miR-6805-5p PAR-CLIP 23592263
MIRT487750 hsa-miR-4787-3p PAR-CLIP 23592263
MIRT487749 hsa-miR-6798-5p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (23)
GO ID Ontology Definition Evidence Reference
GO:0000151 Component Ubiquitin ligase complex IEA
GO:0003779 Function Actin binding IEA
GO:0004842 Function Ubiquitin-protein transferase activity EXP 31366726, 33469115
GO:0004842 Function Ubiquitin-protein transferase activity IEA
GO:0004842 Function Ubiquitin-protein transferase activity TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
611141 30577 ENSG00000197530
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96AX9
Protein name E3 ubiquitin-protein ligase MIB2 (EC 2.3.2.27) (Mind bomb homolog 2) (Novel zinc finger protein) (Novelzin) (Putative NF-kappa-B-activating protein 002N) (RING-type E3 ubiquitin transferase MIB2) (Skeletrophin) (Zinc finger ZZ type with ankyrin repeat dom
Protein 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 endocyto
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06701 MIB_HERC2 70 → 136 Mib_herc2 Domain
PF00569 ZZ 143 → 186 Zinc finger, ZZ type Domain
PF06701 MIB_HERC2 218 → 283 Mib_herc2 Domain
PF18346 SH3_15 315 → 380 Mind bomb SH3 repeat domain Domain
PF18346 SH3_15 386 → 450 Mind bomb SH3 repeat domain Domain
PF12796 Ank_2 494 → 586 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 563 → 655 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 634 → 723 Ankyrin repeats (3 copies) Repeat
PF13857 Ank_5 678 → 729 Repeat
PF13920 zf-C3HC4_3 886 → 931 Domain
PF13920 zf-C3HC4_3 965 → 1008 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in skeletal muscle, and to a lesser extent in heart, brain and kidney. {ECO:0000269|PubMed:14507647}.
Sequence 
MGWKPSEARGQSQSFQASGLQPRSLKAARRATGRPDRSRAARPTMDPSAHRSRAAPPNMD
PDPQAGVQVGMRVVRGVDWKWGQQDGGEGGVGTVVELGRHGSPSTPDRTVVVQWDQGTRT
NYRAGYQGAHDLLLYDNAQIGVRHPNIICDCCKKHGLRGMRWKCRVCLDYDLCTQCYMHN
KHELAHAFDRYETAHSRPVTLSPRQGLPRIPLRGIFQGAKVVRGPDWEWGSQDGGEGKPG
RVVDIRGWDVETGRSVASVTWADGTTNVYRVGHKGKVDLKCVGEAAGGFYYKDHLPRLGK
PAELQRRVSADSQPFQHGDKVKCLLDTDVLREMQEGHGGWNPRMAEFIGQTGTVHRITDR
GDVRVQFNHETRWTFHPGALTKHHSFWVGDVVRVIGDLDTVKRLQAGHGEWTDDMAPALG
RVGKVVKVFGDGNLRVAVAGQRWTFSPSCLVAYRPEEDANLDVAERARENKSSLSVALDK
LRAQKSDPEHPGRLVVEVALGNAARALDLLRRRPEQVDTKNQGRTALQVAAYLGQVELIR
LLLQARAGVDLPDDEGNTALHYAALGNQPEATRVLLSAGCRADAINSTQSTALHVAVQRG
FLEVVRALCERGCDVNLPDAHSDTPLHSAISAGTGASGIVEVLTEVPNIDVTATNSQGFT
LLHHASLKGHALAVRKILARARQLVDAKKEDGFTALHLAALNNHREVAQILIREGRCDVN
VRNRKLQSPLHLAVQQAHVGLVPLLVDAGCSVNAEDEEGDTALHVALQRHQLLPLVADGA
GGDPGPLQLLSRLQASGLPGSAELTVGAAVACFLALEGADVSYTNHRGRSPLDLAAEGRV
LKALQGCAQRFRERQAGGGAAPGPRQTLGTPNTVTNLHVGAAPGPEAAECLVCSELALLV
LFSPCQHRTVCEECARRMKKCIRCQVVVSKKLRPDGSEVASAAPAPGPPRQLVEELQSRY
RQMEERITCPICIDSHIRLVFQCGHGACAPCGSALSACPICRQPIRDRIQIFV
Sequence length 1013
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Lipid and atherosclerosis   Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Benign rs28681667 RCV005906614
Colon adenocarcinoma Benign rs28681667 RCV005906613
Lung cancer Uncertain significance rs773322327 RCV005926846
Thymoma Benign rs28681667 RCV005906615
Show/Hide Text Mining Associations (13)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Bicuspid Aortic Valve Disease Associate 36071494
Bone Diseases Associate 15920166
Carcinogenesis Associate 37436668
Carcinoma Non Small Cell Lung Associate 37436668
Cardiovascular Diseases Associate 37533055
Familial cylindromatosis Associate 25565632
Lung Neoplasms Stimulate 37436668
Melanoma Inhibit 14507647
Multiple Myeloma Associate 15920166
Neoplasm Metastasis Inhibit 37436668