Property Summary

NCBI Gene PubMed Count 40
PubMed Score 229.69
PubTator Score 149.34

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count P-value
Pick disease 1893 1.63050379887236E-7
atypical teratoid / rhabdoid tumor 4369 3.63881436961837E-6
hepatocellular carcinoma 550 1.25373837681921E-5
medulloblastoma 1524 1.75938588605017E-5
glioblastoma 5572 1.80422312462341E-5
medulloblastoma, large-cell 6234 2.38367821984125E-5
osteosarcoma 7933 1.31650051145107E-4
psoriasis 6685 1.54455384019806E-4
primitive neuroectodermal tumor 3031 3.21967806319469E-4
gastric cancer 436 8.84812595840349E-4
ovarian cancer 8492 9.35314653178357E-4
pediatric high grade glioma 2712 0.00103645404668806
oligodendroglioma 2849 0.00113210237888465
ependymoma 2514 0.0016843328491246
pancreatic ductal adenocarcinoma liver metastasis 1795 0.00184906785503353
astrocytic glioma 2241 0.00740314775406722
interstitial cystitis 2299 0.010103137698878
aldosterone-producing adenoma 664 0.0131746954938384
Multiple myeloma 1328 0.0148385609170217
esophageal adenocarcinoma 737 0.0234527297919041
lung cancer 4473 0.0430107049979359
Disease Target Count Z-score Confidence
Primary biliary cirrhosis 45 5.601 2.8
Atrophy of testis 5 4.462 2.2
Disease Target Count
Maple syrup urine disease 25
Disease Target Count
Maple syrup urine disease 2 1

Expression

  Differential Expression (21)

Disease log2 FC p
gastric cancer 1.300 0.001
hepatocellular carcinoma 1.100 0.000
Multiple myeloma -1.466 0.015
astrocytic glioma 1.600 0.007
ependymoma 1.700 0.002
oligodendroglioma 1.600 0.001
esophageal adenocarcinoma 1.100 0.023
psoriasis 1.300 0.000
osteosarcoma 2.473 0.000
atypical teratoid / rhabdoid tumor -1.500 0.000
glioblastoma -1.600 0.000
medulloblastoma -1.200 0.000
medulloblastoma, large-cell -1.500 0.000
primitive neuroectodermal tumor -1.200 0.000
pancreatic ductal adenocarcinoma liver m... 2.275 0.002
lung cancer 1.100 0.043
interstitial cystitis -1.300 0.010
pediatric high grade glioma -1.100 0.001
aldosterone-producing adenoma -1.477 0.013
Pick disease 1.100 0.000
ovarian cancer -1.300 0.001

Synonym

Accession P11182 B2R811 Q5VVL8
Symbols E2
E2B
BCATE2
BCKADE2
BCKAD-E2
BCOADC-E2

Gene

DBT

PANTHER Protein Class (2)

PDB

1K8M   1K8O   1ZWV   2COO   3RNM  

  Ortholog (13)

Gene RIF (12)

PMID Text
24268812 The novel DBT mutation c.650-651insT was more prevalent than the deleted 4.7-kb heterozygote in the Amis population. The reported 4.7-kb deletion indicating a possible founder mutation may be preserved.
23313820 Deletion in DBT gene is associated with maple syrup urine disease.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20570198 4 novel mutations in DBT gene resulting in intermittent maple syrup urine disease in 7 Norwegian patients; pathogenic effect of the mutations is depletion of cellular protein; intermittent form of MSUD appears to be due to residual R301C mutant protein
19480318 In 37% (12 patients) of a total of 64 alleles, the supposed maple syrup urine disease-causing mutations in Turkish patients were located in the BCKDHA gene, in 44% (14 patients) in the BCKDHB gene and in 19% (6 patients) in the DBT gene.
18533943 Examination of the deletion mutation in the E2 (DBT) gene facilitated early MSUD diagnosis and was beneficial for the determination of the proper course of treatment.
18378174 30 Maple syrup urine disease Portuguese patients studied; 17 putative mutations have been identified (6 in BCKDHA, 5 in BCKDHB and 6 in DBT); 7 of are described for the first time.
17922217 in our cohort more severe enzyme & clinical phenotypes of variant maple syrup urine disease were mainly associated with specific genotypes in BCKDHA gene; milder enzyme & clinical phenotypes were associated with specific genotypes in BCKDHB & DBT genes
16861235 presence of the interdomain linker restricts the motional freedom of the hbSBD more significantly than hbLBD, and that the linker region likely exists as a soft rod rather than a flexible string in solution.
14768949 a distinct subset of antimitochondrial antibodies recognize sequences on branched-chain acyltransferase which located outside of the lipoyl binding domain, in primary biliary cirrhosis and overlap syndrome with autoimmune hepatitis
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AA Sequence

MAAVRMLRTWSRNAGKLICVRYFQTCGNVHVLKPNYVCFFGYPSFKYSHPHHFLKTTAALRGQVVQFKLS      1 - 70
DIGEGIREVTVKEWYVKEGDTVSQFDSICEVQSDKASVTITSRYDGVIKKLYYNLDDIAYVGKPLVDIET     71 - 140
EALKDSEEDVVETPAVSHDEHTHQEIKGRKTLATPAVRRLAMENNIKLSEVVGSGKDGRILKEDILNYLE    141 - 210
KQTGAILPPSPKVEIMPPPPKPKDMTVPILVSKPPVFTGKDKTEPIKGFQKAMVKTMSAALKIPHFGYCD    211 - 280
EIDLTELVKLREELKPIAFARGIKLSFMPFFLKAASLGLLQFPILNASVDENCQNITYKASHNIGIAMDT    281 - 350
EQGLIVPNVKNVQICSIFDIATELNRLQKLGSVGQLSTTDLTGGTFTLSNIGSIGGTFAKPVIMPPEVAI    351 - 420
GALGSIKAIPRFNQKGEVYKAQIMNVSWSADHRVIDGATMSRFSNLWKSYLENPAFMLLDLK            421 - 482
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Text Mined References (48)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24268812 2014 Different gene preferences of maple syrup urine disease in the aboriginal tribes of Taiwan.
23313820 2013 Molecular characterization of maple syrup urine disease patients from Tunisia.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20570198 2010 Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation.
19725078 2009 Proteomic analysis of increased Parkin expression and its interactants provides evidence for a role in modulation of mitochondrial function.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19480318 Molecular genetics of maple syrup urine disease in the Turkish population.
More...