MIB2 (MIB E3 ubiquitin protein ligase 2)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
142678
Gene name Gene Name - the full gene name approved by the HGNC.
MIB E3 ubiquitin protein ligase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MIB2
Synonyms (NCBI Gene) Gene synonyms aliases
ZZANK1, ZZZ5
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.33
Summary Summary of gene provided in NCBI Entrez 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]
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(13)
GO ID Ontology Definition Evidence Reference
GO:0000151 Component Ubiquitin ligase complex IEA
GO:0000209 Process Protein polyubiquitination TAS
GO:0003779 Function Actin binding IEA
GO:0004842 Function Ubiquitin-protein transferase activity IBA 21873635
GO:0005515 Function Protein binding IPI 21903422
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
611141 30577 ENSG00000197530
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Left ventricular noncompaction Left ventricular noncompaction rs121913654, rs730880850, rs386134243, rs397515482, rs138110910, rs730880336, rs730880856, rs794729390, rs886037900, rs1114167338, rs1555338658 28013292
Show/Hide Text Mining Associations (13)
Associations from Text Mining
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