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	161725
Gene name	OTU deubiquitinase 7A
Gene symbol	OTUD7A
Synonyms (NCBI Gene)	C15orf16C16ORF15CEZANNE2NEDHSOTUD7
Chromosome	15
Chromosome location	15q13.3
Summary	The protein encoded by this gene is a deubiquitinizing enzyme and possible tumor suppressor. The encoded protein acts on TNF receptor associated factor 6 (TRAF6) to control nuclear factor kappa B expression. However, this gene is downregulated by SNAIL1 i

Show/Hide all (69)

miRTarBase ID	miRNA	Experiments	Reference
MIRT047999	hsa-miR-30c-5p	CLASH	23622248
MIRT616944	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT622957	hsa-miR-1197	HITS-CLIP	23824327
MIRT622956	hsa-miR-8080	HITS-CLIP	23824327
MIRT616943	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT616942	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT616941	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT616940	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT616944	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT616943	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT616942	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT616941	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT616940	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT450801	hsa-miR-5582-3p	PAR-CLIP	22100165
MIRT450800	hsa-miR-7-1-3p	PAR-CLIP	22100165
MIRT450799	hsa-miR-7-2-3p	PAR-CLIP	22100165
MIRT450798	hsa-miR-1255b-2-3p	PAR-CLIP	22100165
MIRT450797	hsa-miR-1323	PAR-CLIP	22100165
MIRT450796	hsa-miR-548o-3p	PAR-CLIP	22100165
MIRT450795	hsa-miR-548aj-5p	PAR-CLIP	22100165
MIRT450794	hsa-miR-548f-5p	PAR-CLIP	22100165
MIRT450793	hsa-miR-548g-5p	PAR-CLIP	22100165
MIRT450792	hsa-miR-548x-5p	PAR-CLIP	22100165
MIRT450791	hsa-miR-1468-3p	PAR-CLIP	22100165
MIRT450790	hsa-miR-548aw	PAR-CLIP	22100165
MIRT450789	hsa-miR-491-3p	PAR-CLIP	22100165
MIRT616944	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT622957	hsa-miR-1197	HITS-CLIP	23824327
MIRT622956	hsa-miR-8080	HITS-CLIP	23824327
MIRT616943	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT616942	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT616941	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT616940	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT616944	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT616943	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT616942	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT616941	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT616940	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT450801	hsa-miR-5582-3p	PAR-CLIP	22100165
MIRT450800	hsa-miR-7-1-3p	PAR-CLIP	22100165
MIRT450799	hsa-miR-7-2-3p	PAR-CLIP	22100165
MIRT450798	hsa-miR-1255b-2-3p	PAR-CLIP	22100165
MIRT450797	hsa-miR-1323	PAR-CLIP	22100165
MIRT450796	hsa-miR-548o-3p	PAR-CLIP	22100165
MIRT450795	hsa-miR-548aj-5p	PAR-CLIP	22100165
MIRT450794	hsa-miR-548f-5p	PAR-CLIP	22100165
MIRT450793	hsa-miR-548g-5p	PAR-CLIP	22100165
MIRT450792	hsa-miR-548x-5p	PAR-CLIP	22100165
MIRT450791	hsa-miR-1468-3p	PAR-CLIP	22100165
MIRT450790	hsa-miR-548aw	PAR-CLIP	22100165
MIRT450789	hsa-miR-491-3p	PAR-CLIP	22100165
MIRT1208044	hsa-miR-3619-3p	CLIP-seq
MIRT1208045	hsa-miR-4253	CLIP-seq
MIRT1208046	hsa-miR-4495	CLIP-seq
MIRT1208047	hsa-miR-4632	CLIP-seq
MIRT1208048	hsa-miR-4664-3p	CLIP-seq
MIRT1208049	hsa-miR-4685-5p	CLIP-seq
MIRT1208050	hsa-miR-4761-3p	CLIP-seq
MIRT1208051	hsa-miR-4776-5p	CLIP-seq
MIRT1208052	hsa-miR-4800-5p	CLIP-seq
MIRT1208047	hsa-miR-4632	CLIP-seq
MIRT2059794	hsa-miR-3195	CLIP-seq
MIRT2059795	hsa-miR-3197	CLIP-seq
MIRT2059796	hsa-miR-3660	CLIP-seq
MIRT2059797	hsa-miR-4297	CLIP-seq
MIRT2059798	hsa-miR-4526	CLIP-seq
MIRT1208047	hsa-miR-4632	CLIP-seq
MIRT2059799	hsa-miR-4695-5p	CLIP-seq
MIRT1208047	hsa-miR-4632	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0004843	Function	Cysteine-type deubiquitinase activity	IBA
GO:0004843	Function	Cysteine-type deubiquitinase activity	IDA	23827681
GO:0004843	Function	Cysteine-type deubiquitinase activity	IEA
GO:0004843	Function	Cysteine-type deubiquitinase activity	TAS
GO:0005515	Function	Protein binding	IPI	35512704
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016579	Process	Protein deubiquitination	TAS
GO:0016787	Function	Hydrolase activity	IEA
GO:0035871	Process	Protein K11-linked deubiquitination	IDA	23827681
GO:0035871	Process	Protein K11-linked deubiquitination	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070530	Function	K63-linked polyubiquitin modification-dependent protein binding	IBA
GO:0071947	Process	Protein deubiquitination involved in ubiquitin-dependent protein catabolic process	IBA

MIM	HGNC	e!Ensembl
612024	20718	ENSG00000169918

Q8TE49

Protein name

OTU domain-containing protein 7A (EC 3.4.19.12) (Zinc finger protein Cezanne 2)

Protein function

Deubiquitinase, which cleaves 'Lys-11'-linked polyubiquitin chains. Might be required for PA28-20S proteasome assembly (Probable).

PDB

2L2D

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14555	UBA_4	28 → 63		Domain
PF02338	OTU	205 → 368	OTU-like cysteine protease	Family
PF01754	zf-A20	888 → 912	A20-like zinc finger	Family

Sequence

MVSSVLPNPTSAECWAALLHDPMTLDMDAVLSDFVRSTGAEPGLARDLLEGKNWDLTAAL
SDYEQLRQVHTANLPHVFNEGRGPKQPEREPQPGHKVERPCLQRQDDIAQEKRLSRGISH
ASSAIVSLARSHVASECNNEQFPLEMPIYTFQLPDLSVYSEDFRSFIERDLIEQATMVAL
EQAGRLNWWSTVCTSCKRLLPLATTGDGNCLLHAASLGMWGFHDRDLVLRKALYTMMRTG
AEREALKRRWRWQQTQQNKEEEWEREWTELLKLASSEPRTHFSKNGGTGGGVDNSEDPVY
ESLEEFHVFVLAHILRRPIVVVADTMLRDSGGEAFAPIPFGGIYLPLEVPPNRCHCSPLV
LAYDQAHFSALVSMEQRDQQREQAVIPLTDSEHKLLPLHFAVDPGKDWEWGKDDNDNARL
AHLILSLEAKLNLLHSYMNVTWIRIPSETRAPLAQPESPTASAGEDVQSLADSLDSDRDS
VCSNSNSNNGKNGKDKEKEKQRKEKDKTRADSVANKLGSFSKTLGIKLKKNMGGLGGLVH
GKMGRANSANGKNGDSAERGKEKKAKSRKGSKEESGASASTSPSEKTTPSPTDKAAGASP
AEKGGGPRGDAWKYSTDVKLSLNILRAAMQGERKFIFAGLLLTSHRHQFHEEMIGYYLTS
AQERFSAEQEQRRRDAATAAAAAAAAAAATAKRPPRRPETEGVPVPERASPGPPTQLVLK
LKERPSPGPAAGRAARAAAGGTASPGGGARRASASGPVPGRSPPAPARQSVIHVQASGAR
DEACAPAVGALRPCATYPQQNRSLSSQSYSPARAAALRTVNTVESLARAVPGALPGAAGT
AGAAEHKSQTYTNGFGALRDGLEFADADAPTARSNGECGRGGPGPVQRRCQRENCAFYGR
AETEHYCSYCYREELRRRREARGARP

Sequence length

926

Interactions

View interactions

	Reactome
			Ovarian tumor domain proteases

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 Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Epileptic encephalopathy	Pathogenic	rs1162953058	RCV001263452	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Language disorder	Pathogenic	rs1162953058	RCV001263452	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs1428047310	RCV003592054	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with hypotonia and seizures	Pathogenic	rs2504476908, rs1162953058	RCV004525824 RCV004526099	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe global developmental delay	Pathogenic	rs1162953058	RCV001263452	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Specific learning disability	Pathogenic	rs1162953058	RCV001263453	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (11)

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.
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LANGUAGE DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-syndromic intellectual disability	no classifications from unflagged records	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTUD7A-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPROSTHETIC OSTEOLYSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	31164008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31307045		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	GWASCAT_DG	20400778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	GWASDB_DG	20400778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23792447		★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	31164008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23792447		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	31307045		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	31164008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	23650146	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

OTUD7A (OTU deubiquitinase 7A)