Show pageOld revisionsBacklinksFold/unfold allBack to top This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong. ======= HEXB ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: HEXB * **<color #00a2e8>Official Name</color>**: hexosaminidase subunit beta * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=3074|3074]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P07686|P07686]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=HEXB&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20HEXB|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/606873|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]. * **<color #00a2e8>UniProt Summary</color>**: Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |Glyco hydro 20b| |Glyco hydro 20| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |male courtship behavior| |courtship behavior| |beta-N-acetylhexosaminidase activity| |N-acetyl-beta-D-galactosaminidase activity| |astrocyte cell migration| |male mating behavior| |ganglioside catabolic process| |penetration of zona pellucida| |azurophil granule| |keratan sulfate catabolic process| |glycosphingolipid catabolic process| |oligosaccharide catabolic process| |chondroitin sulfate catabolic process| |glycolipid catabolic process| |hyaluronan catabolic process| |ganglioside metabolic process| |ceramide catabolic process| |mating behavior| |acetylglucosaminyltransferase activity| |reproductive behavior| |lipid storage| |hyaluronan metabolic process| |sphingolipid catabolic process| |keratan sulfate metabolic process| |mating| |membrane lipid catabolic process| |glial cell migration| |chondroitin sulfate metabolic process| |chondroitin sulfate proteoglycan metabolic process| |oligosaccharide metabolic process| |neuromuscular process controlling balance| |sulfur compound catabolic process| |lysosome organization| |lytic vacuole organization| |glycosaminoglycan catabolic process| |glycosphingolipid metabolic process| |aminoglycan catabolic process| |oogenesis| |ceramide metabolic process| |acrosomal vesicle| |azurophil granule lumen| |proteoglycan metabolic process| |lysosomal lumen| |myelination| |mucopolysaccharide metabolic process| |neuromuscular process| |axon ensheathment| |ensheathment of neurons| |glycolipid metabolic process| |liposaccharide metabolic process| |carbohydrate catabolic process| |vacuole organization| |female gamete generation| |single fertilization| |sensory perception of sound| |regulation of cell shape| |sphingolipid metabolic process| |glycosaminoglycan metabolic process| |maintenance of location| |aminoglycan metabolic process| |sensory perception of mechanical stimulus| |fertilization| |carbohydrate derivative catabolic process| |locomotory behavior| |cellular lipid catabolic process| |membrane lipid metabolic process| |multi-multicellular organism process| |gliogenesis| |phospholipid biosynthetic process| |germ cell development| |organic acid catabolic process| |carboxylic acid catabolic process| |lipid catabolic process| |lipid localization| |cellular process involved in reproduction in multicellular organism| |sulfur compound metabolic process| |phospholipid metabolic process| |glycoprotein metabolic process| |cellular calcium ion homeostasis| |small molecule catabolic process| |calcium ion homeostasis| |cellular divalent inorganic cation homeostasis| |carbohydrate metabolic process| |neutrophil degranulation| |protein heterodimerization activity| |divalent inorganic cation homeostasis| |regulation of cell morphogenesis| |neutrophil activation involved in immune response| |skeletal system development| |neutrophil mediated immunity| |neutrophil activation| |granulocyte activation| |leukocyte degranulation| |myeloid leukocyte mediated immunity| |myeloid cell activation involved in immune response| |organophosphate biosynthetic process| |cellular metal ion homeostasis| |behavior| |lipid biosynthetic process| |myeloid leukocyte activation| |leukocyte activation involved in immune response| |metal ion homeostasis| |cell activation involved in immune response| |cellular cation homeostasis| |cellular ion homeostasis| |developmental process involved in reproduction| |gamete generation| |regulated exocytosis| |cation homeostasis| |inorganic ion homeostasis| |cellular chemical homeostasis| |leukocyte mediated immunity| |cellular amide metabolic process| |ion homeostasis| |exocytosis| |multicellular organismal reproductive process| |sexual reproduction| |multicellular organism reproduction| |protein homodimerization activity| |organophosphate metabolic process| |cellular homeostasis| |carboxylic acid metabolic process| |leukocyte activation| |cellular lipid metabolic process| |cell migration| |sensory perception| |multi-organism reproductive process| |oxoacid metabolic process| |secretion by cell| |organic acid metabolic process| |carbohydrate derivative metabolic process| |export from cell| |macromolecule catabolic process| |regulation of anatomical structure morphogenesis| |organonitrogen compound catabolic process| |cell activation| |localization of cell| |cell motility| |immune effector process| |chemical homeostasis| |secretion| |lipid metabolic process| |positive regulation of transcription by RNA polymerase II| |locomotion| |nervous system process| |reproductive process| |reproduction| |positive regulation of transcription, DNA-templated| |movement of cell or subcellular component| |neurogenesis| |positive regulation of nucleic acid-templated transcription| |positive regulation of RNA biosynthetic process| |homeostatic process| |cell development| |positive regulation of RNA metabolic process| |small molecule metabolic process| |organic substance catabolic process| |cellular catabolic process| |immune response| |positive regulation of nucleobase-containing compound metabolic process| |positive regulation of macromolecule biosynthetic process| |extracellular region| |vesicle-mediated transport| |system process| |positive regulation of cellular biosynthetic process| |positive regulation of gene expression| |membrane| |positive regulation of biosynthetic process| </modal> \\ === CRISPR Data === <button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> ^Screen^Score^ |[[:results:exp208|Vinblastine 0.015μM R05 exp208]]|-1.81| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 14351 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.15 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='HEXB Expression in NALM6 Cells: 6.15'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1