1. Gene
  2. OTUD6B - OTU deubiquitinase 6B Gene

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

OTU: OTU-like cysteine protease (52 - 177)

  • 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

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
Others OTUD6B NCBI