Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
114781
Gene name Gene Name - the full gene name approved by the HGNC.
BTB domain containing 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BTBD9
Synonyms (NCBI Gene) Gene synonyms aliases
dJ322I12.1
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.2
Summary Summary of gene provided in NCBI Entrez Gene.
This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be asso
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017762 hsa-miR-335-5p Microarray 18185580
MIRT052172 hsa-let-7b-5p CLASH 23622248
MIRT050162 hsa-miR-26a-5p CLASH 23622248
MIRT045686 hsa-miR-149-5p CLASH 23622248
MIRT044133 hsa-miR-30e-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32814053
GO:0005737 Component Cytoplasm IBA
GO:0007616 Process Long-term memory IEA
GO:0008344 Process Adult locomotory behavior IBA
GO:0008344 Process Adult locomotory behavior IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611237 21228 ENSG00000183826
Protein
UniProt ID Q96Q07
Protein name BTB/POZ domain-containing protein 9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 27 137 BTB/POZ domain Domain
PF07707 BACK 142 240 BTB And C-terminal Kelch Domain
PF00754 F5_F8_type_C 283 405 F5/8 type C domain Domain
PF00754 F5_F8_type_C 431 554 F5/8 type C domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in the brain (at protein level) (PubMed:22658601). Moderately expressed in all specific brain regions examined (PubMed:11572484). Expressed in the dopaminergic neurons of the substantia nigra and A11 neurons (PubMed:22658601).
Sequence
Sequence length 612
Interactions View interactions
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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
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Attention Deficit Disorder with Hyperactivity Associate 24993631
Kidney Failure Chronic Associate 21572129
Lung Neoplasms Inhibit 32327643
Nocturnal Myoclonus Syndrome Associate 17634447, 25142570, 25660813, 26498236, 26703954
Restless Legs Syndrome Associate 17634447, 19181647, 19279021, 21572129, 21925394, 24293752, 25142570, 25817513, 26498236, 26703954, 30111810, 33175142
Tics Associate 24993631
Tourette Syndrome Associate 24993631