Gene Gene information from NCBI Gene database.
Entrez ID 22903
Gene name BTB domain containing 3
Gene symbol BTBD3
Synonyms (NCBI Gene)
dJ742J24.1
Chromosome 20
Chromosome location 20p12.2
miRNA miRNA information provided by mirtarbase database.
1424
miRTarBase ID miRNA Experiments Reference
MIRT006896 hsa-miR-181c-5p In situ hybridizationLuciferase reporter assay 21720722
MIRT019498 hsa-miR-148b-3p Microarray 17612493
MIRT020331 hsa-miR-130b-3p Sequencing 20371350
MIRT025154 hsa-miR-181a-5p Microarray 17612493
MIRT026014 hsa-miR-148a-3p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus ISS
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615566 15854 ENSG00000132640
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y2F9
Protein name BTB/POZ domain-containing protein 3
Protein function Acts as a key regulator of dendritic field orientation during development of sensory cortex. Also directs dendrites toward active axon terminals when ectopically expressed (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 111 220 BTB/POZ domain Domain
PF07707 BACK 225 332 BTB And C-terminal Kelch Domain
PF08005 PHR 376 521 PHR domain Domain
Sequence
Sequence length 522
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCOLIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS 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
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 25401107 Associate
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 28789460
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 28789460
★☆☆☆☆
Found in Text Mining only
Melanoma Melanoma Pubtator 32179834 Stimulate
★☆☆☆☆
Found in Text Mining only