• Gene id: 142678

Gene Summary

• Gene Symbol: MIB2   Gene   UCSC   Ensembl
• Aliases: ZZANK1, ZZZ5
• Gene name: mindbomb E3 ubiquitin protein ligase 2
• Alternate names: E3 ubiquitin-protein ligase MIB2, RING-type E3 ubiquitin transferase MIB2, mind bomb homolog 2, mindbomb homolog 2, novel zinc finger protein, novelzin, putative NF-kappa-B-activating protein 002N, skeletrophin, zinc finger ZZ type with ankyrin repeat domain prot,
• Gene location: 1p36.33 (1613729: 1630609)     Exons: 24     NC_000001.11
• Gene summary(Entrez): 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]
• OMIM: 164770

Protein Summary

• Protein general information: Q96AX9  
  • 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
  • Length: 1013  
  • Mass: 109939
  • Tissue specificity: Expressed in skeletal muscle, and to a lesser extent in heart, brain and kidney. {ECO
• Sequence:

  MGWKPSEARGQSQSFQASGLQPRSLKAARRATGRPDRSRAARPTMDPSAHRSRAAPPNMDPDPQAGVQVGMRVVR
  GVDWKWGQQDGGEGGVGTVVELGRHGSPSTPDRTVVVQWDQGTRTNYRAGYQGAHDLLLYDNAQIGVRHPNIICD
  CCKKHGLRGMRWKCRVCLDYDLCTQCYMHNKHELAHAFDRYETAHSRPVTLSPRQGLPRIPLRGIFQGAKVVRGP
  DWEWGSQDGGEGKPGRVVDIRGWDVETGRSVASVTWADGTTNVYRVGHKGKVDLKCVGEAAGGFYYKDHLPRLGK
  PAELQRRVSADSQPFQHGDKVKCLLDTDVLREMQEGHGGWNPRMAEFIGQTGTVHRITDRGDVRVQFNHETRWTF
  HPGALTKHHSFWVGDVVRVIGDLDTVKRLQAGHGEWTDDMAPALGRVGKVVKVFGDGNLRVAVAGQRWTFSPSCL
  VAYRPEEDANLDVAERARENKSSLSVALDKLRAQKSDPEHPGRLVVEVALGNAARALDLLRRRPEQVDTKNQGRT
  ALQVAAYLGQVELIRLLLQARAGVDLPDDEGNTALHYAALGNQPEATRVLLSAGCRADAINSTQSTALHVAVQRG
  FLEVVRALCERGCDVNLPDAHSDTPLHSAISAGTGASGIVEVLTEVPNIDVTATNSQGFTLLHHASLKGHALAVR
  KILARARQLVDAKKEDGFTALHLAALNNHREVAQILIREGRCDVNVRNRKLQSPLHLAVQQAHVGLVPLLVDAGC
  SVNAEDEEGDTALHVALQRHQLLPLVADGAGGDPGPLQLLSRLQASGLPGSAELTVGAAVACFLALEGADVSYTN
  HRGRSPLDLAAEGRVLKALQGCAQRFRERQAGGGAAPGPRQTLGTPNTVTNLHVGAAPGPEAAECLVCSELALLV
  LFSPCQHRTVCEECARRMKKCIRCQVVVSKKLRPDGSEVASAAPAPGPPRQLVEELQSRYRQMEERITCPICIDS
  HIRLVFQCGHGACAPCGSALSACPICRQPIRDRIQIFV

• Structural information:
  • Protein Domains: (59..13-)
    (/note="MIB/HERC2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00749-)
    (207..28-)
    (/note="MIB/HERC2-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00749"-)
  • Interpro: IPR002110  IPR020683  IPR036770  IPR042056  IPR010606   IPR037252  IPR040847  IPR001841  IPR013083  IPR000433  
  • Prosite: PS50297 PS50088 PS51416 PS50089 PS01357 PS50135
  • CDD: cd02339
  • STRING: ENSP00000426103
• Other Databases: GeneCards:  MIB2  Malacards:  MIB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004842	ubiquitin-protein transferase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0016567	protein ubiquitination	IBA	biological process
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016567	protein ubiquitination	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000209	protein polyubiquitination	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0000151	ubiquitin ligase complex	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0005769	early endosome	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	HMP	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray