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Aliases for OTUD6B Gene

Aliases for OTUD6B Gene

  • OTU Domain Containing 6B 2 3 5
  • DUBA-5 3 4
  • DUBA5 3 4
  • OTU Domain-Containing Protein 6B 3
  • EC 4
  • CGI-77 3

External Ids for OTUD6B Gene

Previous GeneCards Identifiers for OTUD6B Gene

  • GC08P092152
  • GC08P092153
  • GC08P092082
  • GC08P087293

Summaries for OTUD6B Gene

Entrez Gene Summary for OTUD6B Gene

  • 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]

GeneCards Summary for OTUD6B Gene

OTUD6B (OTU Domain Containing 6B) is a Protein Coding gene. Diseases associated with OTUD6B include Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies and Alacrima, Achalasia, And Mental Retardation Syndrome. GO annotations related to this gene include cysteine-type peptidase activity. An important paralog of this gene is OTUD6A.

Gene Wiki entry for OTUD6B Gene

Additional gene information for OTUD6B Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OTUD6B Gene

Genomics for OTUD6B Gene

Regulatory Elements for OTUD6B Gene

Enhancers for OTUD6B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08H092058 1.7 VISTA Ensembl ENCODE dbSUPER 11.8 +990.8 990821 5.9 MXI1 MAX COPS2 ZNF366 POLR2A ZNF600 PRDM10 RCOR1 ZBTB20 EGR2 OTUD6B RUNX1T1 GC08P092008
GH08H090983 1 ENCODE 10.8 -85.1 -85114 2.2 HDGF PKNOX1 ATF1 ZNF2 ZNF766 GLIS2 ZNF143 ATF7 SP3 REST LOC102724670 OTUD6B OTUD6B-AS1 LOC105375634 C8orf88 TMEM64
GH08H090675 1.1 Ensembl ENCODE dbSUPER 9.6 -393.9 -393886 1 ZNF217 CTCF CTBP1 NFIB POLR2A RCOR1 FOXA1 OTUD6B OTUD6B-AS1 TMEM64 LRRC69 ENSG00000254182 LOC102724670
GH08H090625 0.8 ENCODE 12.6 -442.1 -442104 5.1 HDGF PKNOX1 FOXA2 BATF ATF7 ETV6 RUNX3 IKZF2 SMARCA5 SMAD5 OTUD6B LINC01030 LOC105375634 ENSG00000254180 LOC102724670
GH08H090678 0.9 ENCODE dbSUPER 9.6 -390.9 -390884 1.7 TAL1 ETV1 DPF2 TCF12 GATA3 ZNF316 NCOR1 IKZF1 NR2C1 FOS OTUD6B OTUD6B-AS1 TMEM64 ENSG00000254182 LOC102724670
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around OTUD6B on UCSC Golden Path with GeneCards custom track

Promoters for OTUD6B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Locations for OTUD6B Gene

Genomic Locations for OTUD6B Gene
16,900 bases
Plus strand

Genomic View for OTUD6B Gene

Genes around OTUD6B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OTUD6B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OTUD6B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OTUD6B Gene

Proteins for OTUD6B Gene

  • Protein details for OTUD6B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    OTU domain-containing protein 6B
    Protein Accession:
    Secondary Accessions:
    • A8K6I1
    • B4DEY0
    • Q9NTA4
    • Q9Y387

    Protein attributes for OTUD6B Gene

    293 amino acids
    Molecular mass:
    33813 Da
    Quaternary structure:
    No Data Available
    • No deubiquitinase activity has been detected when tested (PubMed:23827681). May require some post-translational modification to be active.

    Alternative splice isoforms for OTUD6B Gene


neXtProt entry for OTUD6B Gene

Post-translational modifications for OTUD6B Gene

  • Ubiquitination at Lys24
  • Modification sites at PhosphoSitePlus

Other Protein References for OTUD6B Gene

No data available for DME Specific Peptides for OTUD6B Gene

Domains & Families for OTUD6B Gene

Gene Families for OTUD6B Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for OTUD6B Gene


Suggested Antigen Peptide Sequences for OTUD6B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with OTUD6B: view

No data available for UniProtKB/Swiss-Prot for OTUD6B Gene

Function for OTUD6B Gene

Molecular function for OTUD6B Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).

Enzyme Numbers (IUBMB) for OTUD6B Gene

Gene Ontology (GO) - Molecular Function for OTUD6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0036459 thiol-dependent ubiquitinyl hydrolase activity IEA --
genes like me logo Genes that share ontologies with OTUD6B: view
genes like me logo Genes that share phenotypes with OTUD6B: view

Animal Models for OTUD6B Gene

MGI Knock Outs for OTUD6B:

Animal Model Products

CRISPR Products

miRNA for OTUD6B Gene

miRTarBase miRNAs that target OTUD6B

Inhibitory RNA Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for OTUD6B Gene

Localization for OTUD6B Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OTUD6B gene
Compartment Confidence
cytosol 3
extracellular 2
nucleus 2
endoplasmic reticulum 2
golgi apparatus 2
plasma membrane 1
mitochondrion 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for OTUD6B Gene

Pathways & Interactions for OTUD6B Gene

SuperPathways for OTUD6B Gene

No Data Available

Gene Ontology (GO) - Biological Process for OTUD6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with OTUD6B: view

No data available for Pathways by source and SIGNOR curated interactions for OTUD6B Gene

Drugs & Compounds for OTUD6B Gene

No Compound Related Data Available

Transcripts for OTUD6B Gene

Unigene Clusters for OTUD6B Gene

OTU domain containing 6B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for OTUD6B Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7
SP1: -

Relevant External Links for OTUD6B Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for OTUD6B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for OTUD6B Gene

Protein differential expression in normal tissues from HIPED for OTUD6B Gene

This gene is overexpressed in Breast (26.3) and Stomach (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for OTUD6B Gene

Protein tissue co-expression partners for OTUD6B Gene

NURSA nuclear receptor signaling pathways regulating expression of OTUD6B Gene:


SOURCE GeneReport for Unigene cluster for OTUD6B Gene:


Evidence on tissue expression from TISSUES for OTUD6B Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with OTUD6B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for OTUD6B Gene

Orthologs for OTUD6B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for OTUD6B Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia OTUD6B 33 34
  • 99.28 (n)
(Bos Taurus)
Mammalia OTUD6B 33 34
  • 87.77 (n)
(Canis familiaris)
Mammalia OTUD6B 33 34
  • 87.41 (n)
(Mus musculus)
Mammalia Otud6b 33 16 34
  • 85.45 (n)
(Rattus norvegicus)
Mammalia Otud6b 33
  • 83.8 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 83 (a)
-- 34
  • 81 (a)
(Ornithorhynchus anatinus)
Mammalia OTUD6B 34
  • 79 (a)
(Gallus gallus)
Aves OTUD6B 33 34
  • 75.93 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia otud6b 33
  • 67.64 (n)
Str.11832 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.15114 33
(Danio rerio)
Actinopterygii otud6b 33 34
  • 64.23 (n)
zgc56305 33
fruit fly
(Drosophila melanogaster)
Insecta CG7857 34 33
  • 52.16 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006160 33
  • 48.22 (n)
(Caenorhabditis elegans)
Secernentea F21D5.2 33
  • 49.11 (n)
otub-3 34
  • 27 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OTU2 34 36
  • 29 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G62940 33
  • 46.91 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7595 33
(Oryza sativa)
Liliopsida Os04g0619500 33
  • 47.91 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 50 (a)
-- 34
  • 43 (a)
-- 34
  • 38 (a)
Species where no ortholog for OTUD6B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for OTUD6B Gene

Gene Tree for OTUD6B (if available)
Gene Tree for OTUD6B (if available)

Paralogs for OTUD6B Gene

Paralogs for OTUD6B Gene

(1) SIMAP similar genes for OTUD6B Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with OTUD6B: view

Variants for OTUD6B Gene

Sequence variations from dbSNP and Humsavar for OTUD6B Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000181339 -- 91,072,140(+) CGTTG(A/G)ATCTA intron-variant, upstream-variant-2KB
rs1000250368 -- 91,081,103(+) CTGAT(C/G)AAAGT intron-variant
rs1000411720 -- 91,074,781(+) TGACA(C/T)AGTAT intron-variant
rs1000689138 -- 91,082,876(+) TTAAT(A/T)TTTGT intron-variant
rs1000747520 -- 91,076,093(+) TTTCC(A/G)ATGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for OTUD6B Gene

Variant ID Type Subtype PubMed ID
nsv957656 CNV deletion 24416366
nsv831390 CNV gain 17160897
esv3618013 CNV loss 21293372
esv3543832 CNV deletion 23714750
esv2759629 CNV loss 17122850
esv2669421 CNV deletion 23128226

Variation tolerance for OTUD6B Gene

Residual Variation Intolerance Score: 88.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.90; 48.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for OTUD6B Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OTUD6B Gene

Disorders for OTUD6B Gene

MalaCards: The human disease database

(5) MalaCards diseases for OTUD6B Gene - From: OMIM, ClinVar, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for OTUD6B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with OTUD6B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OTUD6B Gene

Publications for OTUD6B Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  2. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 3 4 60
  3. Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. (PMID: 28343629) Santiago-Sim T … Walkiewicz MA (American journal of human genetics 2017) 3 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60

Products for OTUD6B Gene

Sources for OTUD6B Gene

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