Property Summary

NCBI Gene PubMed Count 34
PubMed Score 24.39
PubTator Score 206.09

Knowledge Summary


No data available


  Disease Sources (5)

Disease Target Count P-value
lung carcinoma 2844 2.36218516899721E-17
posterior fossa group B ependymoma 1530 2.21662052014346E-10
tuberculosis 1563 4.19870542048983E-9
atypical teratoid / rhabdoid tumor 4369 3.35363279336112E-7
malignant mesothelioma 3163 7.48442542408594E-7
glioblastoma 5572 1.44265720738769E-5
interstitial cystitis 2299 1.73306190429922E-5
psoriasis 6685 1.4782038831154E-4
osteosarcoma 7933 2.39668914792901E-4
medulloblastoma 1524 3.33547019545607E-4
Atopic dermatitis 944 0.00157208332159163
medulloblastoma, large-cell 6234 0.00230438962712278
pancreatic ductal adenocarcinoma liver metastasis 1795 0.00714256671024796
lung cancer 4473 0.0180837610347277
Disease Target Count Z-score Confidence
Acquired metabolic disease 267 0.0 2.0
Disease Target Count
Maple syrup urine disease 25
Disease Target Count
Maple syrup urine disease 1B 1


  Differential Expression (14)

Disease log2 FC p
malignant mesothelioma -1.500 0.000
psoriasis -1.100 0.000
osteosarcoma 1.543 0.000
posterior fossa group B ependymoma 2.200 0.000
atypical teratoid / rhabdoid tumor 1.900 0.000
glioblastoma 1.200 0.000
medulloblastoma 1.100 0.000
medulloblastoma, large-cell 1.200 0.002
Atopic dermatitis -1.100 0.002
tuberculosis 2.700 0.000
pancreatic ductal adenocarcinoma liver m... -1.410 0.007
lung cancer -1.200 0.018
interstitial cystitis -1.200 0.000
lung carcinoma 1.200 0.000


Accession P21953 Q5T2J3 Q9BQL0
Symbols E1B
BCKDH E1-beta


PANTHER Protein Class (2)


1DTW   1OLS   1OLU   1OLX   1U5B   1V11   1V16   1V1M   1V1R   1WCI   1X7W   1X7X   1X7Y   1X7Z   1X80   2BEU   2BEV   2BEW   2BFB   2BFC   2BFD   2BFE   2BFF   2J9F  

  Ortholog (13)

Gene RIF (16)

26453840 Five novel mutations in BCKDHB were identified in MSUD patients.
26239723 we describe the presenting symptoms and clinical course of a Chinese boy with intermittent Intermittent maple syrup urine disease from BCKDHB gene mutation
23313820 Mutations in BCKDHB gene is associated with maple syrup urine disease.
22593002 BCKDHA and BCKDHB mutations might be primarily responsible for maple syrup urine disease in the Indian population.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
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.
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
17524396 Reconstructed haplotype from BCKDHB variants was associated with premature ovarian failure.

AA Sequence


Text Mined References (39)

PMID Year Title
26453840 2015 Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases.
26239723 2015 Two novel compound heterozygous mutations in the BCKDHB gene that cause the intermittent form of maple syrup urine disease.
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.
23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
23400010 2014 Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
23313820 2013 Molecular characterization of maple syrup urine disease patients from Tunisia.
22593002 2012 Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1? and E1?.
22326532 2012 Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD).
21269460 2011 Initial characterization of the human central proteome.