Gene Gene information from NCBI Gene database.
Entrez ID 84280
Gene name BTB domain containing 10
Gene symbol BTBD10
Synonyms (NCBI Gene)
GMRP-1GMRP1
Chromosome 11
Chromosome location 11p15.3
miRNA miRNA information provided by mirtarbase database.
209
miRTarBase ID miRNA Experiments Reference
MIRT019640 hsa-miR-340-5p Sequencing 20371350
MIRT020297 hsa-miR-130b-3p Sequencing 20371350
MIRT028112 hsa-miR-93-5p Sequencing 20371350
MIRT031244 hsa-miR-19b-3p Sequencing 20371350
MIRT043765 hsa-miR-328-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0001650 Component Fibrillar center IDA
GO:0005515 Function Protein binding IPI 21145461, 21988832, 33961781, 34591642
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615933 21445 ENSG00000148925
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BSF8
Protein name BTB/POZ domain-containing protein 10 (Glucose metabolism-related protein 1)
Protein function Plays a major role as an activator of AKT family members by inhibiting PPP2CA-mediated dephosphorylation, thereby keeping AKTs activated. Plays a role in preventing motor neuronal death and accelerating the growth of pancreatic beta cells. {ECO:
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16017 BTB_3 168 273 BTB/POZ domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Highly expressed in adult brain, testis, aorta and small intestine and weakly expressed in the heart, lung, liver, kidney, pancreas, spleen, thymus, prostate, ovary and colon. Down-regulated in glioma. {ECO:0000
Sequence
MAGRPHPYDGNSSDPENWDRKLHSRPRKLYKHSSTSSRIAKGGVDHTKMSLHGASGGHER
SRDRRRSSDRSRDSSHERTESQLTPCIRNVTSPTRQHHVEREKDHSSSRPSSPRPQKASP
NGSISSAGNSSRNSSQSSSDGSCKTAGEMVFVYENAKEGARNIRTSERVTLIVDNTRFVV
DPSIFTAQPNTMLGRMFGSGREHNFTRPNEKGEYEVAEGIGSTVFRAILDYYKTGIIRCP
DGISIPELREACDYLCISFEYSTIKCRDLSALM
HELSNDGARRQFEFYLEEMILPLMVAS
AQSGERECHIVVLTDDDVVDWDEEYPPQMGEEYSQIIYSTKLYRFFKYIENRDVAKSVLK
ERGLKKIRLGIEGYPTYKEKVKKRPGGRPEVIYNYVQRPFIRMSWEKEEGKSRHVDFQCV
KSKSITNLAAAAADIPQDQLVVMHPTPQVDELDILPIHPPSGNSDLDPDAQNPML
Sequence length 475
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
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS 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
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 18160256
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis LHGDN 18160256
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 35608340 Associate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma BEFREE 15556295
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 15556295
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 15556295
★☆☆☆☆
Found in Text Mining only
Obesity Obesity Pubtator 25772781 Associate
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Prostatic neoplasm Pubtator 35306527 Associate
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 30843665 Associate
★☆☆☆☆
Found in Text Mining only