Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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]

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
MIRT487748	hsa-miR-6886-5p	PAR-CLIP	23592263
MIRT487747	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT487746	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT487745	hsa-miR-3195	PAR-CLIP	23592263
MIRT487744	hsa-miR-1237-5p	PAR-CLIP	23592263
MIRT487743	hsa-miR-4488	PAR-CLIP	23592263
MIRT487742	hsa-miR-4697-5p	PAR-CLIP	23592263
MIRT737111	hsa-miR-214-3p	Western blottingRNA-seqqRT-PCR	32462942
MIRT487751	hsa-miR-6805-5p	PAR-CLIP	23592263
MIRT487750	hsa-miR-4787-3p	PAR-CLIP	23592263
MIRT487749	hsa-miR-6798-5p	PAR-CLIP	23592263
MIRT487748	hsa-miR-6886-5p	PAR-CLIP	23592263
MIRT487747	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT487746	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT487745	hsa-miR-3195	PAR-CLIP	23592263
MIRT487744	hsa-miR-1237-5p	PAR-CLIP	23592263
MIRT487743	hsa-miR-4488	PAR-CLIP	23592263
MIRT487742	hsa-miR-4697-5p	PAR-CLIP	23592263
MIRT1148005	hsa-miR-3141	CLIP-seq
MIRT1148006	hsa-miR-3163	CLIP-seq
MIRT1148007	hsa-miR-340	CLIP-seq

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
GO:0005515	Function	Protein binding	IPI	21903422
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010803	Process	Regulation of tumor necrosis factor-mediated signaling pathway	TAS
GO:0016567	Process	Protein ubiquitination	IBA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	HMP	12761501
GO:0046872	Function	Metal ion binding	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IEA

MIM	HGNC	e!Ensembl
611141	30577	ENSG00000197530

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

	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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEFT VENTRICULAR NONCOMPACTION	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (25)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	36071494	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	15920166	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30524945		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	37436668	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	37533055	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	28013292		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	14507647, 15869411		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	25565632	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30214574		★★★★★ ★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction	Left ventricular noncompaction	ORPHANET_DG	28013292		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction	Left ventricular noncompaction	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	37436668	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30524945		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16715130, 26971296		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	16966434		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	14507647, 15869411, 16715130		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	14507647	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	15869411, 16715130		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	15920166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	15920166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	15920166	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15869411, 21777376		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	14507647	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach Diseases	BEFREE	28013292		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	8816445		★★★★★ ★☆☆☆☆ Found in Text Mining only

MIB2 (MIB E3 ubiquitin protein ligase 2)