Property Summary

NCBI Gene PubMed Count 90
Grant Count 15
R01 Count 4
Funding $2,020,552.83
PubMed Score 266.99
PubTator Score 161.02

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.183 0.002
Multiple myeloma 1.580 0.000
esophageal adenocarcinoma 1.500 0.019
glioblastoma 2.400 0.000
medulloblastoma, large-cell -1.200 0.000
Duchenne muscular dystrophy 1.045 0.000
juvenile dermatomyositis 1.373 0.000
lung cancer -1.200 0.002
diabetes mellitus -1.300 0.017
Breast cancer 3.000 0.022
acute myeloid leukemia -1.400 0.046
ovarian cancer -2.500 0.000
dermatomyositis 1.400 0.002

Gene RIF (35)

PMID Text
24518553 DNA from Iranian Tay-Sachs patients reveals a novel mutation in HEXB predicting a termination codon or nonsense mutation.
24461908 A total of 19 HEXB variants were found in the 1092 genomes of which 5 are suspected of having a deleterious effect on hexosaminidase activity.
23911049 Concentration and specific activity of N-acetyl-B-hexosaminidase in palatine tonsils in patients with tonsillar hypertrophy and chronic tonsillitis both in childhood and adulthood significantly increase in comparison to healthy individuals.
23906468 A highly significant correlation of HEX-7 and %CDT has been found. Because of exclusion of the P isoform, HEX-7 could be a useful supplementary marker for detecting chronic alcohol abuse.
23886397 A patient with Sandhoff disease also is found to have a compound macro-deletion in HEXB.
23370522 GM2 gangliosidosis is caused by the gene mutation. (review)
23046579 Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients.
22863301 Expression of beta-hexosaminidase in the neurons of Sandhoff disease patients rescues transgenic mice from neurodegeneration.
22848519 minigene studies revealed the presence of a novel alternative spliced HEXB mRNA variant also present in normal cells
22789865 identified 27 different mutations, 14 of which were novel, in the HEXA gene and 14 different mutations, 8 of which unreported until now, in the HEXB gene, and attempted to correlate these mutations with the clinical presentation of the patients
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AA Sequence

MELCGLGLPRPPMLLALLLATLLAAMLALLTQVALVVQVAEAARAPSVSAKPGPALWPLPLSVKMTPNLL      1 - 70
HLAPENFYISHSPNSTAGPSCTLLEEAFRRYHGYIFGFYKWHHEPAEFQAKTQVQQLLVSITLQSECDAF     71 - 140
PNISSDESYTLLVKEPVAVLKANRVWGALRGLETFSQLVYQDSYGTFTINESTIIDSPRFSHRGILIDTS    141 - 210
RHYLPVKIILKTLDAMAFNKFNVLHWHIVDDQSFPYQSITFPELSNKGSYSLSHVYTPNDVRMVIEYARL    211 - 280
RGIRVLPEFDTPGHTLSWGKGQKDLLTPCYSRQNKLDSFGPINPTLNTTYSFLTTFFKEISEVFPDQFIH    281 - 350
LGGDEVEFKCWESNPKIQDFMRQKGFGTDFKKLESFYIQKVLDIIATINKGSIVWQEVFDDKAKLAPGTI    351 - 420
VEVWKDSAYPEELSRVTASGFPVILSAPWYLDLISYGQDWRKYYKVEPLDFGGTQKQKQLFIGGEACLWG    421 - 490
EYVDATNLTPRLWPRASAVGERLWSSKDVRDMDDAYDRLTRHRCRMVERGIAAQPLYAGYCNHENM        491 - 556
//

Text Mined References (95)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25645918 2015 Human neutrophils secrete bioactive paucimannosidic proteins from azurophilic granules into pathogen-infected sputum.
24518553 2014 Three novel mutations in Iranian patients with Tay-Sachs disease.
24461908 2014 Incidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23911049 N-acetyl-?-hexosaminidase in chronic tonsillitis and tonsillar hypertrophy.
23906468 2013 Microheterogeneity of serum ?-hexosaminidase in chronic alcohol abusers in a driver's license regranting program.
23886397 2013 Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
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