OTUD6B (OTU deubiquitinase 6B)

2016-10-01  

Identity

HGNC
OTUD6B
LOCATION
8q21.3
LOCUSID
51633
ALIAS
CGI-77,DUBA-5,DUBA5,IDDFSDA
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51633
MIM: 612021
HGNC: 24281
Ensembl: ENSG00000155100

Variants:

dbSNP: 51633
ClinVar: 51633
TCGA: ENSG00000155100
COSMIC: OTUD6B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000155100ENST00000285420A0A087X0W9
ENSG00000155100ENST00000404789Q8N6M0
ENSG00000155100ENST00000522894A0A0C4DH76
ENSG00000155100ENST00000615618Q8N6M0
ENSG00000155100ENST00000617869A0A087X0W9

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
388781122024Otud6b induces pulmonary arterial hypertension by mediating the Calpain-1/HIF-1α signaling pathway.0
388781122024Otud6b induces pulmonary arterial hypertension by mediating the Calpain-1/HIF-1α signaling pathway.0
376344102023MCTS1 enhances the proliferation of laryngeal squamous cell carcinoma via promoting OTUD6B-1 mediated LIN28B deubiquitination.0
376506502023Human OTUD6B positively regulates type I IFN antiviral innate immune responses by deubiquitinating and stabilizing IRF3.0
376344102023MCTS1 enhances the proliferation of laryngeal squamous cell carcinoma via promoting OTUD6B-1 mediated LIN28B deubiquitination.0
376506502023Human OTUD6B positively regulates type I IFN antiviral innate immune responses by deubiquitinating and stabilizing IRF3.0
343542322022OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype.2
351105372022Deubiquitylase OTUD6B stabilizes the mutated pVHL and suppresses cell migration in clear cell renal cell carcinoma.9
354303272022Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations.0
360592742022The OTUD6B-LIN28B-MYC axis determines the proliferative state in multiple myeloma.5
343542322022OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype.2
351105372022Deubiquitylase OTUD6B stabilizes the mutated pVHL and suppresses cell migration in clear cell renal cell carcinoma.9
354303272022Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations.0
360592742022The OTUD6B-LIN28B-MYC axis determines the proliferative state in multiple myeloma.5
346809782021Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability.6

Citation

Dessen P

OTUD6B (OTU deubiquitinase 6B)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56448/otud6b-(otu-deubiquitinase-6b)