hexosaminidase subunit beta

Summary
Gene Symbol
  • HEXB
Aliases
  • beta-hexosaminidase subunit beta
Organism
Homo sapiens (human)
External Links
NCBI Gene
3074
HGNC
4879
KEGG Gene ID
hsa:3074
PubChem
3074
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Cytoplasmic vesicle
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • Gangliosidosis
  • Glycoprotein
  • Glycosidase
  • Hydrolase
  • Lipid metabolism
  • Lysosome
  • Neurodegeneration
  • Proteomics identification
  • Reference proteome
  • Signal
  • Zymogen
Proteins
Displaying all 3 entries
UniProt Protein Name
P07686
  • Beta-N-acetylhexosaminidase subunit beta
  • Cervical cancer proto-oncogene 7 protein
  • N-acetyl-beta-glucosaminidase subunit beta
A0A024RAJ6
Q5URX0
  • Beta-N-acetylhexosaminidase subunit beta
  • N-acetyl-beta-glucosaminidase subunit beta
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Human Protein Atlas
ENSG00000049860

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K12373
Name
hexosaminidase [EC:3.2.1.52]
References
Reactions
Displaying all 2 entries
KEGG Reaction Enzyme Acceptor Product
R05963
R06004
Disease
Disease Ontology
Displaying entries 41 - 50 of 55 in total
DO ID Disease Name Source
DOID:5076 mixed glioma
DOID:5082 liver cirrhosis
DOID:526 human immunodeficiency virus infectious disease
DOID:557 kidney disease
DOID:5672 large intestine cancer
DOID:5679 retinal disease
DOID:635 acquired immunodeficiency syndrome
DOID:655 inherited metabolic disorder
DOID:713 HCL-V
DOID:7148 rheumatoid arthritis
The Human Phenotype Ontology
Displaying entries 1 - 10 of 77 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000020 Urinary incontinence
HP:0000158 Macroglossia
HP:0000256 Macrocephaly
HP:0000280 Coarse facial features
HP:0000618 Blindness
HP:0000729 Autistic behavior
HP:0000739 Anxiety
HP:0000802 Impotence
HP:0000966 Hypohidrosis
Displaying all 4 entries
Disease ID Disease Name
ORPHA:309155
  • Sandhoff disease, infantile form
OMIM:268800
  • Sandhoff disease
ORPHA:309162
  • Sandhoff disease, juvenile form
ORPHA:309169
  • Sandhoff disease, adult form
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP000083
Gene Name
hexosaminidase B (beta polypeptide)
Ortholog
Displaying entry 81 - 81 of 81 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
115600992 STRHB08378

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