Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9712
Gene name Gene Name - the full gene name approved by the HGNC.
USP6 N-terminal like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
USP6NL
Synonyms (NCBI Gene) Gene synonyms aliases
RNTRE, TRE2NL, USP6NL-IT1
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10p14
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016196 hsa-miR-590-3p Sequencing 20371350
MIRT037796 hsa-miR-92b-5p CLASH 23622248
MIRT437601 hsa-miR-142-3p Microarray, qRT-PCR 22815788
MIRT715653 hsa-miR-219a-1-3p HITS-CLIP 19536157
MIRT715652 hsa-miR-571 HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IDA 16086013, 17562788, 17684057
GO:0005096 Function GTPase activator activity IEA
GO:0005096 Function GTPase activator activity IMP 16086013
GO:0005515 Function Protein binding IPI 16086013
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605405 16858 ENSG00000148429
Protein
UniProt ID Q92738
Protein name USP6 N-terminal-like protein (Related to the N-terminus of tre) (RN-tre)
Protein function Acts as a GTPase-activating protein for RAB5A and RAB43. Involved in receptor trafficking. In complex with EPS8 inhibits internalization of EGFR. Involved in retrograde transport from the endocytic pathway to the Golgi apparatus. Involved in the
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00566 RabGAP-TBC 103 312 Rab-GTPase-TBC domain Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:8700515}.
Sequence
MNSDQDVALKLAQERAEIVAKYDRGREGAEIEPWEDADYLVYKVTDRFGFLHEEELPDHN
VAVERQKHLEIERTTKWLKMLKGWEKYKNTEKFHRRIYKGIPLQLRGEVWALLLEIPKMK
EETRDLYSKLKHRARGCSPDIRQIDLDVNRTFRDHIMFRDRYGVKQQSLFHVLAAYSIYN
TEVGYCQGMSQITALLLMYMNEEDAFWALVKLFSGPKHAMHGFFVQGFPKLLRFQEHHEK
ILNKFLSKLKQHLDSQEIYTSFYTMKWFFQCFLDRTPFTLNLRIWDIYIFEGERVLTAMS
YTILKLHKKHLM
KLSMEELVEFFQETLAKDFFFEDDFVIEQLQISMTELKRAKLDLPEPG
KEDEYPKKPLGQLPPELQSWGVHHLSNGQRSVGRPSPLASGRRESGAPHRRHEHSPHPQS
RTGTPERAQPPRRKSVEEESKKLKDEADFQRKLPSGPQDSSRQYNHAAANQNSNATSNIR
KEFVPKWNKPSDVSATERTAKYTMEGKGRAAHPALAVTVPGPAEVRVSNVRPKMKALDAE
DGKRGSTASQYDNVPGPELDSGASVEEALERAYSQSPRHALYPPSPRKHAEPSSSPSKVS
NKFTFKVQPPSHARYPSQLDGEARGLAHPPSYSNPPVYHGNSPKHFPTANSSFASPQFSP
GTQLNPSRRPHGSTLSVSASPEKSYSRPSPLVLPSSRIEVLPVDTGAGGYSGNSGSPKNG
KLIIPPVDYLPDNRTWSEVSYTYRPETQGQSWTRDASRGNLPKYSAFQLAPFQDHGLPAV
SVDSPVRYKASPAAEDASPSGYPYSGPPPPAYHYRNRDGLSIQESVLL
Sequence length 828
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Retrograde transport at the Trans-Golgi-Network
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Dementia Dementia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 28183528, 36191742
Breast Neoplasms Stimulate 29691252
general anxiety disorder Associate 36344488
Neoplasms Associate 33054738
Obsessive Compulsive Disorder Associate 36344488
Triple Negative Breast Neoplasms Stimulate 33054738