Gene Gene information from NCBI Gene database.
Entrez ID 114781
Gene name BTB domain containing 9
Gene symbol BTBD9
Synonyms (NCBI Gene)
dJ322I12.1
Chromosome 6
Chromosome location 6p21.2
Summary 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.
533
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611237 21228 ENSG00000183826
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of large intestine Colorectal Cancer GWASCAT_DG 29228715
★☆☆☆☆
Found in Text Mining only
Attention Deficit Disorder Attention Deficit Hyperactivity Disorder BEFREE 19822783
★☆☆☆☆
Found in Text Mining only
Attention Deficit Disorder with Hyperactivity Attention deficit hyperactivity disorder Pubtator 24993631 Associate
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 19223043, 19822783
★☆☆☆☆
Found in Text Mining only
Chronic kidney disease stage 5 Kidney Disease BEFREE 21572129, 31704978
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease GWASCAT_DG 26634245
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer GWASCAT_DG 29228715
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal Neoplasms GWASCAT_DG 29228715
★☆☆☆☆
Found in Text Mining only
Gilles de la Tourette syndrome Tourette Syndrome BEFREE 19822783, 22914617, 24993631
★☆☆☆☆
Found in Text Mining only
Hemochromatosis Hemochromatosis BEFREE 30536387
★☆☆☆☆
Found in Text Mining only