OTUD6B - OTU deubiquitinase 6B Gene

Homo sapiens

Also known as DUBA5; CGI-77; DUBA-5; IDDFSDA

Gene ID: 51633 | Gene type: protein coding

About OTUD6B

Cytogenetic location: 8q21.3 Genomic coordinates (GRCh38): 8:91,070,344-91,087,093 (from NCBI)

This gene has 6 transcripts (splice variants), 199 orthologues, 5 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 6.6), testis (RPKM 5.6) and 25 other tissues.

Summary

This gene encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating enzymes. Deubiquitinating enzymes are primarily involved in removing ubiquitin from proteins targeted for degradation. This protein may function as a negative regulator of the cell cycle in B cells. [provided by RefSeq, Nov 2013]

OTUD6B Products(2)

mRNA	Protein	Name
NM_001286745.3	NP_001273674.1	deubiquitinase OTUD6B isoform 2
NM_016023.5	NP_057107.4	deubiquitinase OTUD6B isoform 1

OTUD6B Protein Structure

OTU

0
100
192 a.a.

Protein Preferred Names

Protein Names

deubiquitinase OTUD6B

OTU domain containing 6B

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies

IDDFSDA

Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Retinitis Pigmentosa 88

RP88	Retinitis Pigmentosa, Type 88

Kaufman Oculocerebrofacial Syndrome

KOS	Blepharophimosis-Ptosis-Intellectual Disability Syndrome
Oculocerebrofacial Syndrome, Kaufman Type	Bpids
Blepharophimosis Ptosis Intellectual Disability Syndrome	Blepharophimosis-Ptosis-Intellectual Disability Syndrome
Severe Intellectual Disability, Microcephaly, Long Narrow Face, Ocular Anomalies, And Long Thin Hands And Feet	Bpid Syndrome

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Syndromic Intellectual Disability

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09875	OTUD6B Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	OTUD6B	MGD	MGI:1919451
Felis catus	OTUD6B	VGNC	VGNC:81704
Rattus norvegicus	OTUD6B	RGD	RGD:1310024
Macaca mulatta	OTUD6B	VGNC	VGNC:82085
Bos taurus	OTUD6B	VGNC	VGNC:32498
Canis familiaris	OTUD6B	VGNC	VGNC:44189

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