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Tchem
HEXB
Beta-hexosaminidase subunit beta

Protein Summary
Description
Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000261416
  • ENSP00000261416
  • ENSG00000049860

Symbol
  • ENC-1AS
  • HEL-248
  • HEL-S-111
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
kinase perturbation
1
disease perturbation
0.99
biological process
0.97
gene perturbation
0.85
protein domain
0.85


Related Tools
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GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 109.41   (req: < 5)
Gene RIFs: 39   (req: <= 3)
Antibodies: 234   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 109.41   (req: >= 5)
Gene RIFs: 39   (req: > 3)
Antibodies: 234   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 28
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 1
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Active Ligands (1)
1 – 1 of 1
CHEMBL257158
chemical structure image
Orthologs (12)
1 – 5 of 12
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
hexosaminidase subunit beta
VGNC:6932
461807
Macaque
hexosaminidase subunit beta
704464
Mouse
MGI:96074
15212
Rat
RGD:1307607
294673
Dog
hexosaminidase subunit beta
VGNC:41669
478100
Species
Name
OMA
EggNOG
Inparanoid
Chimp
hexosaminidase subunit beta
Macaque
hexosaminidase subunit beta
Mouse
Rat
Dog
hexosaminidase subunit beta
Protein Structure (9 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-P07686-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 5 of 9
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (28)
CS/DS degradation (R-HSA-2024101)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 19
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
CS/DS degradation
Reactome
Chondroitin sulfate/dermatan sulfate metabolism
Reactome
Defective HEXB causes GM2G2
Reactome
Disease
Reactome
Diseases associated with glycosaminoglycan metabolism
Name
Explore in Pharos
Explore in Source
CS/DS degradation
Chondroitin sulfate/dermatan sulfate metabolism
Defective HEXB causes GM2G2
Disease
Diseases associated with glycosaminoglycan metabolism
Gene Ontology Terms (35)
Items per page:
10
1 – 5 of 5
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
MGI
Inferred from Direct Assay (IDA)
MGI
Traceable Author Statement (TAS)
Reactome
Inferred from Electronic Annotation (IEA)
UniProtKB-EC
Protein-Protein Interactions (139)
1 – 10 of 139
POTEB
Tdark
Novelty: 0.48864918
p_int: 0.999999294
p_ni: 6.64e-7
p_wrong: 4.2e-8
Data Source: BioPlex
POTEB2
Tdark
Novelty: 0.47022575
p_int: 0.999587572
p_ni: 0.000412425
p_wrong: 3e-9
Data Source: BioPlex
HEXA
Tchem
Family: Enzyme
Novelty: 0.01134783
p_int: 0.959308414
p_ni: 0.040691587
Score: 0.994
Data Source: BioPlex,Reactome,STRINGDB
APOD
Tbio
Novelty: 0.0031899
p_int: 0.895415705
p_ni: 0.104309684
p_wrong: 0.000274611
Score: 0.198
Data Source: BioPlex,STRINGDB
FUCA2
Tchem
Family: Enzyme
Novelty: 0.02259158
Score: 0.977
Data Source: STRINGDB
GM2A
Tbio
Novelty: 0.00574276
Score: 0.972
Data Source: Reactome,STRINGDB
GLB1
Tchem
Family: Enzyme
Novelty: 0.00241713
Score: 0.964
Data Source: STRINGDB
FUCA1
Tchem
Family: Enzyme
Novelty: 0.00961721
Score: 0.961
Data Source: STRINGDB
GLA
Tclin
Family: Enzyme
Novelty: 0.00075604
Score: 0.957
Data Source: STRINGDB
GUSB
Tchem
Family: Enzyme
Novelty: 0.00053974
Score: 0.947
Data Source: STRINGDB
Publication Statistics
PubMed Score  109.41

PubMed score by year
PubTator Score  149.5

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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