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Gene Gene information from NCBI Gene database.
Entrez ID 55643
Gene name BTB domain containing 2
Gene symbol BTBD2
Synonyms (NCBI Gene)
-
Chromosome 19
Chromosome location 19p13.3
Summary The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in prot
miRNA miRNA information provided by mirtarbase database.
132 Show/Hide all (132)
miRTarBase ID miRNA Experiments Reference
MIRT017784 hsa-miR-335-5p Microarray 18185580
MIRT028236 hsa-miR-33a-5p Sequencing 20371350
MIRT028296 hsa-miR-32-5p Sequencing 20371350
MIRT051204 hsa-miR-16-5p CLASH 23622248
MIRT050544 hsa-miR-20a-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7 Show/Hide all (7)
GO ID Ontology Definition Evidence Reference
GO:0000932 Component P-body IBA
GO:0000932 Component P-body IDA 12878161
GO:0000932 Component P-body IEA
GO:0005515 Function Protein binding IPI 12878161, 16169070, 17543862, 19615732, 21145461, 28514442, 32296183, 33961781, 34591642
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608531 15504 ENSG00000133243
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BX70
Protein name BTB/POZ domain-containing protein 2
PDB 3NO8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 107 → 217 BTB/POZ domain Domain
PF07707 BACK 222 → 329 BTB And C-terminal Kelch Domain
PF08005 PHR 375 → 524 PHR domain Domain
Sequence
Sequence length 525
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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 Reference Evidence Score
BTBD2-related disorder Likely benign ClinVar —
★★★★★
★★☆☆☆
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
Glioblastoma Glioblastoma BEFREE 20368557
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 20368557 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioblastoma Multiforme Glioblastoma BEFREE 20368557
★★★★★
★☆☆☆☆
Found in Text Mining only