BTBD10 (BTB domain containing 10)

2016-10-01  

Identity

HGNC
LOCATION
11p15.3
LOCUSID
ALIAS
GMRP-1,GMRP1
FUSION GENES

Other Information

Locus ID:

NCBI: 84280
MIM: 615933
HGNC: 21445
Ensembl: ENSG00000148925

Variants:

dbSNP: 84280
ClinVar: 84280
TCGA: ENSG00000148925
COSMIC: BTBD10

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000148925ENST00000278174Q9BSF8
ENSG00000148925ENST00000278174D3DQW7
ENSG00000148925ENST00000525108E9PN21
ENSG00000148925ENST00000526841E9PKM7
ENSG00000148925ENST00000527102E9PKU9
ENSG00000148925ENST00000528120B7Z503
ENSG00000148925ENST00000529708E9PPD8
ENSG00000148925ENST00000530907Q9BSF8

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
233207552013Reduced expression of BTBD10 in anterior horn cells with Golgi fragmentation and pTDP-43-positive inclusions in patients with sporadic amyotrophic lateral sclerosis.5
233207552013Reduced expression of BTBD10 in anterior horn cells with Golgi fragmentation and pTDP-43-positive inclusions in patients with sporadic amyotrophic lateral sclerosis.5
223883512012Reduced expression of BTBD10, an Akt activator, leads to motor neuron death.16
223883512012Reduced expression of BTBD10, an Akt activator, leads to motor neuron death.16
212675382011Glucose metabolism-related protein 1 (GMRP1) regulates pancreatic beta cell proliferation and apoptosis via activation of Akt signalling pathway in rats and mice.13
212675382011Glucose metabolism-related protein 1 (GMRP1) regulates pancreatic beta cell proliferation and apoptosis via activation of Akt signalling pathway in rats and mice.13
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
181602562008A novel Akt/PKB-interacting protein promotes cell adhesion and inhibits familial amyotrophic lateral sclerosis-linked mutant SOD1-induced neuronal death via inhibition of PP2A-mediated dephosphorylation of Akt/PKB.15
181602562008A novel Akt/PKB-interacting protein promotes cell adhesion and inhibits familial amyotrophic lateral sclerosis-linked mutant SOD1-induced neuronal death via inhibition of PP2A-mediated dephosphorylation of Akt/PKB.15

Citation

Dessen P

BTBD10 (BTB domain containing 10)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/55975/meetings/gene-explorer/gene-fusions-explorer/