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Aliases for HEXB Gene

Aliases for HEXB Gene

  • Hexosaminidase Subunit Beta 2 3
  • Hexosaminidase B (Beta Polypeptide) 2 3 5
  • N-Acetyl-Beta-Glucosaminidase Subunit Beta 3 4
  • Beta-N-Acetylhexosaminidase Subunit Beta 3 4
  • Cervical Cancer Proto-Oncogene 7 Protein 3 4
  • Hexosaminidase Subunit B 3 4
  • EC 4 63
  • HCC-7 3 4
  • Epididymis Secretory Protein Li 111 3
  • Beta-Hexosaminidase Subunit Beta 2
  • Epididymis Luminal Protein 248 3
  • HEL-S-111 3
  • ENC-1AS 3
  • HEL-248 3

External Ids for HEXB Gene

Previous GeneCards Identifiers for HEXB Gene

  • GC05P072785
  • GC05P074213
  • GC05P074019
  • GC05P074065
  • GC05P074016
  • GC05P069185
  • GC05P073935

Summaries for HEXB Gene

Entrez Gene Summary for HEXB Gene

  • 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]

GeneCards Summary for HEXB Gene

HEXB (Hexosaminidase Subunit Beta) is a Protein Coding gene. Diseases associated with HEXB include Sandhoff Disease, Infantile, Juvenile, And Adult Forms and Gangliosidosis. Among its related pathways are Glycosaminoglycan degradation and Glycosaminoglycan metabolism. GO annotations related to this gene include protein homodimerization activity and hydrolase activity, hydrolyzing O-glycosyl compounds. An important paralog of this gene is ENSG00000260729.

UniProtKB/Swiss-Prot for HEXB Gene

  • Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues.

Tocris Summary for HEXB Gene

Gene Wiki entry for HEXB Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HEXB Gene

Genomics for HEXB Gene

Regulatory Elements for HEXB Gene

Enhancers for HEXB Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HEXB on UCSC Golden Path with GeneCards custom track

Promoters for HEXB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HEXB on UCSC Golden Path with GeneCards custom track

Genomic Location for HEXB Gene

74,640,023 bp from pter
74,722,647 bp from pter
82,625 bases
Plus strand

Genomic View for HEXB Gene

Genes around HEXB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HEXB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HEXB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HEXB Gene

Proteins for HEXB Gene

  • Protein details for HEXB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Beta-hexosaminidase subunit beta
    Protein Accession:

    Protein attributes for HEXB Gene

    556 amino acids
    Molecular mass:
    63111 Da
    Quaternary structure:
    • There are 3 forms of beta-hexosaminidase: hexosaminidase A is a trimer composed of one subunit alpha, one subunit beta chain A and one subunit beta chain B; hexosaminidase B is a tetramer of two subunit beta chains A and two subunit beta chains B; hexosaminidase S is a homodimer of two alpha subunits. The two beta chains are derived from the cleavage of the beta subunit.
    • Sequence=AAA51828.1; Type=Frameshift; Positions=21; Evidence={ECO:0000305}; Sequence=AAA68620.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HEXB Gene

neXtProt entry for HEXB Gene

Proteomics data for HEXB Gene at MOPED

Selected DME Specific Peptides for HEXB Gene

Post-translational modifications for HEXB Gene

  • N-linked glycans at Asn-142 and Asn-190 consist of Man(3)-GlcNAc(2) and Man(5 to 7)-GlcNAc(2), respectively.
  • The beta-A and beta-B chains are produced by proteolytic processing of the precursor beta chain.
  • Ubiquitination at Lys 465
  • Glycosylation at Asn 84, Asn 142, Asn 190, and Asn 327
  • Modification sites at PhosphoSitePlus

Other Protein References for HEXB Gene

Antibody Products

Domains & Families for HEXB Gene

Suggested Antigen Peptide Sequences for HEXB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glycosyl hydrolase 20 family.
  • Belongs to the glycosyl hydrolase 20 family.
genes like me logo Genes that share domains with HEXB: view

No data available for Gene Families for HEXB Gene

Function for HEXB Gene

Molecular function for HEXB Gene

GENATLAS Biochemistry:
hexosaminidases A & B,beta polypeptide,lyposomal,hydrolyzing glycoproteins,glucosaminoglycans,glycolipids
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides.
UniProtKB/Swiss-Prot Function:
Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues.

Enzyme Numbers (IUBMB) for HEXB Gene

genes like me logo Genes that share phenotypes with HEXB: view

Human Phenotype Ontology for HEXB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HEXB Gene

MGI Knock Outs for HEXB:

Animal Model Products

miRNA for HEXB Gene

miRTarBase miRNAs that target HEXB

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for HEXB Gene

Localization for HEXB Gene

Subcellular locations from UniProtKB/Swiss-Prot for HEXB Gene


Subcellular locations from

Jensen Localization Image for HEXB Gene COMPARTMENTS Subcellular localization image for HEXB gene
Compartment Confidence
extracellular 5
lysosome 5
vacuole 5
endoplasmic reticulum 3

No data available for Gene Ontology (GO) - Cellular Components for HEXB Gene

Pathways & Interactions for HEXB Gene

genes like me logo Genes that share pathways with HEXB: view

Gene Ontology (GO) - Biological Process for HEXB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IEA --
GO:0005975 carbohydrate metabolic process IEA --
GO:0006665 sphingolipid metabolic process TAS --
GO:0006687 glycosphingolipid metabolic process IEA,TAS --
GO:0006689 ganglioside catabolic process IEA --
genes like me logo Genes that share ontologies with HEXB: view

No data available for SIGNOR curated interactions for HEXB Gene

Drugs & Compounds for HEXB Gene

(5) Drugs for HEXB Gene - From: DrugBank, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
N-Acetyl-D-glucosamine Approved Nutra 0
(2r,3r,4s,5r)-2-Acetamido-3,4-Dihydroxy-5-Hydroxymethyl-Piperidinium Experimental Pharma Target 0
2-Acetamido-2-Deoxy-D-Glucono-1,5-Lactone Experimental Pharma Target 0
3ar,5r,6s,7r,7ar-5-Hydroxymethyl-2-Methyl-5,6,7,7a-Tetrahydro-3ah-Pyrano[3,2-D]Thiazole-6,7-Diol Experimental Pharma Target 0
WWL 70 Pharma α/β-hydrolase domain 6 inhibitor, Potent ABHD6 inhibitor 0

(46) Additional Compounds for HEXB Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • CBS
  • Chitodextrin
  • Diacetylchitobiose
Ganglioside GA2 (d18:1/12:0)
  • Asialo GM2
  • Bissulfogangliotetraosylceramide
  • G(A2) Ganglioside
  • GA2
  • GA2 Ganglioside
Ganglioside GA2 (d18:1/16:0)
  • Asialo GM2
  • Bissulfogangliotetraosylceramide
  • G(A2) Ganglioside
  • GA2
  • GA2 Ganglioside
Ganglioside GA2 (d18:1/20:0)
  • Asialo GM2
  • Bissulfogangliotetraosylceramide
  • G(A2) Ganglioside
  • GA2
  • GA2 Ganglioside
Ganglioside GA2 (d18:1/24:0)
  • Asialo GM2
  • Bissulfogangliotetraosylceramide
  • G(A2) Ganglioside
  • GA2
  • GA2 Ganglioside

(5) Tocris Compounds for HEXB Gene

Compound Action Cas Number
(Z)-Pugnac O-GlcNAcase and beta-hexosaminidase inhibitor 132489-69-1
2,4-Diamino-6-hydroxypyrimidine Inhibits tetrahydrobiopterin synthesis and thus NOS activity 56-06-4
Flurofamide Urease inhibitor 70788-28-2
Lys-gamma3-MSH Pro-opiomelanocortin (POMC) derived peptide 156159-18-1
WWL 70 Potent ABHD6 inhibitor 947669-91-2
genes like me logo Genes that share compounds with HEXB: view

Transcripts for HEXB Gene

Unigene Clusters for HEXB Gene

Hexosaminidase B (beta polypeptide):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HEXB Gene

No ASD Table

Relevant External Links for HEXB Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HEXB Gene

mRNA expression in normal human tissues for HEXB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HEXB Gene

This gene is overexpressed in Islet of Langerhans (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for HEXB Gene

SOURCE GeneReport for Unigene cluster for HEXB Gene Hs.69293

genes like me logo Genes that share expression patterns with HEXB: view

Protein tissue co-expression partners for HEXB Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for HEXB Gene

Orthologs for HEXB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HEXB Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia HEXB 35
  • 81.08 (n)
  • 74.17 (a)
-- 36
  • 72 (a)
-- 36
  • 62 (a)
(Canis familiaris)
Mammalia HEXB 35
  • 83.37 (n)
  • 77.26 (a)
  • 77 (a)
(Mus musculus)
Mammalia Hexb 35
  • 79.7 (n)
  • 77.26 (a)
Hexb 16
Hexb 36
  • 75 (a)
(Pan troglodytes)
Mammalia HEXB 35
  • 99.28 (n)
  • 98.56 (a)
  • 98 (a)
(Rattus norvegicus)
Mammalia Hexb 35
  • 79.51 (n)
  • 75.14 (a)
(Monodelphis domestica)
Mammalia HEXB 36
  • 64 (a)
(Ornithorhynchus anatinus)
Mammalia HEXB 36
  • 67 (a)
(Gallus gallus)
Aves HEXB 35
  • 69.44 (n)
  • 68.12 (a)
  • 62 (a)
(Anolis carolinensis)
Reptilia HEXB 36
  • 60 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia hexb 35
  • 65.14 (n)
  • 63.42 (a)
(Danio rerio)
Actinopterygii hexa 35
  • 62.33 (n)
  • 64 (a)
hexb 36
  • 59 (a)
fruit fly
(Drosophila melanogaster)
Insecta Hexo1 37
  • 33 (a)
Hexo2 37
  • 34 (a)
fdl 36
  • 24 (a)
Hexo1 36
  • 25 (a)
Hexo2 36
  • 27 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010056 35
  • 49.67 (n)
  • 45.88 (a)
(Caenorhabditis elegans)
Secernentea T14F9.3 37
  • 44 (a)
hex-1 35
  • 52.55 (n)
  • 47.37 (a)
hex-1 36
  • 39 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons HEXO1 35
  • 47.9 (n)
  • 37.53 (a)
(Oryza sativa)
Liliopsida Os.9285 35
Os05g0115900 35
  • 49.23 (n)
  • 38.59 (a)
(Triticum aestivum)
Liliopsida Ta.20760 35
(Zea mays)
Liliopsida Zm.3467 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7268 36
  • 52 (a)
Species with no ortholog for HEXB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for HEXB Gene

Gene Tree for HEXB (if available)
Gene Tree for HEXB (if available)

Paralogs for HEXB Gene

Paralogs for HEXB Gene

(1) SIMAP similar genes for HEXB Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with HEXB: view

Variants for HEXB Gene

Sequence variations from dbSNP and Humsavar for HEXB Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
VAR_003247 GM2-gangliosidosis 2 (GM2G2)
rs11556045 - 74,689,390(+) GGCTA(A/G)AACCC reference, missense, utr-variant-5-prime
rs10805890 - 74,697,056(+) TTTTG(A/G)TTGAT reference, missense, utr-variant-5-prime
VAR_003250 GM2-gangliosidosis 2 (GM2G2)
rs28942073 GM2-gangliosidosis 2 (GM2G2) 74,718,804(+) TGCGC(C/T)GGGCA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for HEXB Gene

Variant ID Type Subtype PubMed ID
esv21716 CNV Loss 19812545

Variation tolerance for HEXB Gene

Residual Variation Intolerance Score: 42.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.74; 78.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HEXB Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HEXB Gene

Disorders for HEXB Gene

MalaCards: The human disease database

(13) MalaCards diseases for HEXB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
sandhoff disease, infantile, juvenile, and adult forms
  • sandhoff disease
  • mucolipidosis type iv
tay-sachs disease
  • gm2-gangliosidosis, several forms
sandhoff disease, infantile form
  • hexosaminidases a and b deficiency, infantile form
sandhoff disease, adult form
  • adult gm2 gangliosidosis 0 variant
- elite association - COSMIC cancer census association via MalaCards
Search HEXB in MalaCards View complete list of genes associated with diseases


  • GM2-gangliosidosis 2 (GM2G2) [MIM:268800]: An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. Clinically indistinguishable from GM2-gangliosidosis type 1, presenting startle reactions, early blindness, progressive motor and mental deterioration, macrocephaly and cherry-red spots on the macula. {ECO:0000269 PubMed:1531140, ECO:0000269 PubMed:1720305, ECO:0000269 PubMed:7557963, ECO:0000269 PubMed:7626071, ECO:0000269 PubMed:7633435, ECO:0000269 PubMed:8357844, ECO:0000269 PubMed:8950198, ECO:0000269 PubMed:9401004, ECO:0000269 PubMed:9694901, ECO:0000269 PubMed:9856491}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for HEXB Gene

Sandhoff disease;GM2 gangliosidosis II (HEXA & B deficiency)

Relevant External Links for HEXB

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with HEXB: view

Publications for HEXB Gene

  1. Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype. (PMID: 8950198) Redonnet-Vernhet I. … Levade T. (Biochim. Biophys. Acta 1996) 3 4 23 48 67
  2. Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles. (PMID: 18758829) Zampieri S. … Dardis A. (Neurogenetics 2009) 3 23
  3. Lysosome-related genes are regulated in the orbital fat of patients with graves' ophthalmopathy. (PMID: 18552385) Chen M.H. … Chuang L.M. (Invest. Ophthalmol. Vis. Sci. 2008) 3 23
  4. A novel HEXB mutation and its structural effects in juvenile Sandhoff disease. (PMID: 18930675) Wang S.Z. … Cox T.M. (Mol. Genet. Metab. 2008) 3 23
  5. Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect. (PMID: 17251047) Santoro M. … Silvestri G. (Mol. Genet. Metab. 2007) 3 23

Products for HEXB Gene

Sources for HEXB Gene