HEXB (hexosaminidase subunit beta)

2010-01-01  

Identity

HGNC
LOCATION
5q13.3
LOCUSID
ALIAS
ENC-1AS,HEL-248,HEL-S-111
FUSION GENES

Other Information

Locus ID:

NCBI: 3074
MIM: 606873
HGNC: 4879
Ensembl: ENSG00000049860

Variants:

dbSNP: 3074
ClinVar: 3074
TCGA: ENSG00000049860
COSMIC: HEXB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000049860ENST00000261416P07686
ENSG00000049860ENST00000503312H0YA83
ENSG00000049860ENST00000505859H0Y9M3
ENSG00000049860ENST00000509579D6REQ8
ENSG00000049860ENST00000511181Q5URX0
ENSG00000049860ENST00000513336H0Y9B6

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Other glycan degradationKEGGko00511
Amino sugar and nucleotide sugar metabolismKEGGko00520
Glycosaminoglycan degradationKEGGko00531
Glycosphingolipid biosynthesis - ganglio seriesKEGGko00604
Other glycan degradationKEGGhsa00511
Amino sugar and nucleotide sugar metabolismKEGGhsa00520
Glycosaminoglycan degradationKEGGhsa00531
Glycosphingolipid biosynthesis - globo and isoglobo seriesKEGGhsa00603
Glycosphingolipid biosynthesis - ganglio seriesKEGGhsa00604
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Metabolic pathwaysKEGGhsa01100
Keratan sulfate degradationKEGGhsa_M00079
Keratan sulfate degradationKEGGM00079
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Hyaluronan metabolismREACTOMER-HSA-2142845
Hyaluronan uptake and degradationREACTOMER-HSA-2160916
Keratan sulfate/keratin metabolismREACTOMER-HSA-1638074
Keratan sulfate degradationREACTOMER-HSA-2022857
Chondroitin sulfate/dermatan sulfate metabolismREACTOMER-HSA-1793185
CS/DS degradationREACTOMER-HSA-2024101
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Glycosphingolipid metabolismREACTOMER-HSA-1660662
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
213073792011Glomerular and tubular damage markers are elevated in patients with diabetes.56
127067242003The X-ray crystal structure of human beta-hexosaminidase B provides new insights into Sandhoff disease.27
181804572008Role for lysosomal enzyme beta-hexosaminidase in the control of mycobacteria infection.26
216379232011Down-regulation of β-N-acetyl-D-glucosaminidase increases Akt1 activity in thyroid anaplastic cancer cells.13
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
213214002011Lysosomal β-galactosidase and β-hexosaminidase activities correlate with clinical stages of dementia associated with Alzheimer's disease and type 2 diabetes mellitus.8
154856602004An alpha-subunit loop structure is required for GM2 activator protein binding by beta-hexosaminidase A.7
167107452006Activity of lysosomal exoglycosidases in human gliomas.7

Citation

Dessen P

HEXB (hexosaminidase subunit beta)

Atlas Genet Cytogenet Oncol Haematol. 2010-01-01

Online version: http://atlasgeneticsoncology.org/gene/51273/hexb