You are using an outdated browser. Please upgrade your browser to improve your experience.

Tchem
HEXA
Beta-hexosaminidase subunit alpha

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. The form B is active against certain oligosaccharides. The form S has no measurable activity. This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [pro ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000268097
  • ENSP00000268097
  • ENSG00000213614

Symbol
  • TSD
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
disease perturbation
0.97
kinase perturbation
0.88
transcription factor perturbation
0.88
protein domain
0.85
transcription factor binding site profile
0.85


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: 79.49   (req: < 5)
Gene RIFs: 34   (req: <= 3)
Antibodies: 456   (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: 79.49   (req: >= 5)
Gene RIFs: 34   (req: > 3)
Antibodies: 456   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 10
Tchem

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

Active Ligands: 2
Tclin

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

Active Drug: 0
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
No expression data found
Related Tools
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Protein-Protein Interactions (72)
DHRS4
Tbio
Family:  Enzyme
Novelty:  0.02992279
p_int:  0.997552368
p_ni:  0.002447628
p_wrong:  4e-9
Score:  0.194
Data Source:  BioPlex,STRINGDB
TERF2
Tchem
Family:  TF
Novelty:  0.01003649
p_int:  0.983617818
p_ni:  0.016356464
p_wrong:  0.000025719
Score:  0.214
Data Source:  BioPlex,STRINGDB
HEXB
Tchem
Family:  Enzyme
Novelty:  0.0085045
p_int:  0.959308414
p_ni:  0.040691587
Score:  0.994
Data Source:  BioPlex,Reactome,STRINGDB
PLA2G2D
Tchem
Family:  Enzyme
Novelty:  0.01212618
p_int:  0.900347878
p_ni:  0.099652122
Data Source:  BioPlex
GM2A
Tbio
Novelty:  0.00574276
Score:  0.989
Data Source:  Reactome,STRINGDB
GLA
Tclin
Family:  Enzyme
Novelty:  0.00075604
Score:  0.968
Data Source:  STRINGDB
GLB1
Tchem
Family:  Enzyme
Novelty:  0.00241713
Score:  0.957
Data Source:  STRINGDB
NAGA
Tbio
Family:  Enzyme
Novelty:  0.00591296
Score:  0.953
Data Source:  STRINGDB
CHIT1
Tchem
Family:  Enzyme
Novelty:  0.00113383
Score:  0.949
Data Source:  STRINGDB
HEXD
Tbio
Family:  Enzyme
Novelty:  0.0470643
Score:  0.94
Data Source:  STRINGDB
Pathways (27)
CS/DS degradation (R-HSA-2024101)

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

Find Similar Targets
Items per page:
1 – 5 of 16
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
CS/DS degradation
Reactome
Chondroitin sulfate/dermatan sulfate metabolism
Reactome
Defective HEXA causes GM2G1
Reactome
Disease
Reactome
Diseases associated with glycosaminoglycan metabolism
Name
Explore in Pharos
Explore in Source
CS/DS degradation
Chondroitin sulfate/dermatan sulfate metabolism
Defective HEXA causes GM2G1
Disease
Diseases associated with glycosaminoglycan metabolism
Viral Interactions (0)
No viral interactions found
Disease Associations ()
No disease associations found
GWAS Traits (1)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
serum alanine aminotransferase measurement
1
1
0
5.5
1.5
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
serum alanine aminotransferase measurement
0
5.5
1.5
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (8)
1 – 5 of 8
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Mouse
MGI:96073
15211
Rat
RGD:2792
300757
Dog
hexosaminidase subunit alpha
487633
Horse
hexosaminidase subunit alpha
100063584
Cow
hexosaminidase subunit alpha
504468
Species
Name
OMA
EggNOG
Inparanoid
Mouse
Rat
Dog
hexosaminidase subunit alpha
Horse
hexosaminidase subunit alpha
Cow
hexosaminidase subunit alpha
Publication Statistics
PubMed Score 79.49
PubMed score by year
PubTator Score 602.43
PubTator score by year
loading...
Related Publications
Items per page:
0 of 0
PMID
Year
Title