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Aliases for HEXB Gene

Aliases for HEXB Gene

  • Hexosaminidase B (Beta Polypeptide) 2 3
  • 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
  • Beta-Hexosaminidase Subunit Beta 3
  • Epididymis Luminal Protein 248 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 B (Beta Polypeptide)) is a Protein Coding gene. Diseases associated with HEXB include sandhoff disease, infantile, juvenile, and adult forms and sandhoff disease, infantile form. Among its related pathways are Disease and Sphingolipid metabolism. GO annotations related to this gene include protein homodimerization activity and beta-N-acetylhexosaminidase activity. An important paralog of this gene is HEXA.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Secondary Accessions:

    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 Lys465
  • Glycosylation at Asn84, Asn142, Asn190, and Asn327
  • Modification sites at PhosphoSitePlus

Other Protein References for HEXB Gene

Antibody Products

Domains 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

Gene Ontology (GO) - Molecular Function for HEXB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds --
GO:0004563 beta-N-acetylhexosaminidase activity IEA --
GO:0042803 protein homodimerization activity IDA 6230359
GO:0046982 protein heterodimerization activity IDA 6230359
genes like me logo Genes that share ontologies with HEXB: view
genes like me logo Genes that share phenotypes with HEXB: view

Animal Models for HEXB Gene

MGI Knock Outs for HEXB:

Animal Model Products

miRNA for HEXB Gene

miRTarBase miRNAs that target HEXB

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HEXB

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting 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
lysosome 5
vacuole 5
endoplasmic reticulum 3
extracellular 1

Gene Ontology (GO) - Cellular Components for HEXB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005764 lysosome --
GO:0016020 membrane IDA 19946888
GO:0043202 lysosomal lumen TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with HEXB: view

Pathways for HEXB Gene

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

PCR Array Products

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 TAS --
GO:0006665 sphingolipid metabolic process TAS --
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0006689 ganglioside catabolic process IEA --
genes like me logo Genes that share ontologies with HEXB: view

Compounds for HEXB Gene

(3) Drugbank Compounds for HEXB Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
46936809 Target experimental
19026-22-3 87901 Target experimental
46936781 Target experimental

(5) Tocris Compounds for HEXB Gene

Compound Action Cas Number
(Z)-Pugnac O-GlcNAcase and beta-hexosaminidase inhibitor [132489-69-1]
Flurofamide Urease inhibitor [70788-28-2]
ML 348 Selective and reversible lysophospholipase 1 (LYPLA1) inhibitor [899713-86-1]
SCH 51344 Potent MTH1 inhibitor [171927-40-5]
WWL 70 Potent ABHD6 inhibitor [947669-91-2]

(55) HMDB Compounds for HEXB Gene

Compound Synonyms Cas Number PubMed IDs
  • CBS
Ganglioside GA2 (d18:1/12:0)
  • Asialo GM2
Ganglioside GA2 (d18:1/16:0)
  • Asialo GM2
Ganglioside GA2 (d18:1/18:0)
  • Asialo GM2
Ganglioside GA2 (d18:1/20:0)
  • Asialo GM2

(8) Novoseek inferred chemical compound relationships for HEXB Gene

Compound -log(P) Hits PubMed IDs
ganglioside 79.7 7
g(m2) ganglioside 78.4 1
deae-cellulose 54.9 1
glycolipid 48.2 2
mannose 6-phosphate 47.9 1
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HEXB

Flow Cytometry Products

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 for HEXB Gene

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

Integrated Proteomics: protein expression 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 expressions with HEXB: view

Expression partners for HEXB Gene

* - Elite partner

Primer Products

In Situ Assay 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 MAF
rs766318 -- 74,665,468(+) AGCCC(C/G)GTGGA intron-variant
rs820825 -- 74,706,569(-) tttcc(C/T)ggtgc intron-variant
rs820826 -- 74,706,506(-) cttcc(C/T)gagtg intron-variant
rs820827 -- 74,706,152(-) TTGTC(C/T)GCAGG intron-variant
rs820828 -- 74,704,574(-) AAAAA(C/T)GGAGC intron-variant

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

Variant ID Type Subtype PubMed ID
esv21716 CNV Loss 19812545

Relevant External Links for HEXB Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

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

Disorders for HEXB Gene

(1) OMIM Diseases for HEXB Gene (606873)


  • 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.

(1) University of Copenhagen DISEASES for HEXB Gene

(11) Novoseek inferred disease relationships for HEXB Gene

Disease -log(P) Hits PubMed IDs
sandhoff disease 98.3 40
sandhoff disease adult 95.3 2
sandhoff disease infantile 94.3 3
gm2 gangliosidosis 91.6 9
tay-sachs disease 85.5 4

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
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
  2. Molecular basis of heat labile hexosaminidase B among Jews and Arabs. (PMID: 9401004) Narkis G. … Navon R. (Hum. Mutat. 1997) 3 4 23
  3. A Pro504 --> Ser substitution in the beta-subunit of beta- hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease. (PMID: 9694901) Hou Y. … Mahuran D. (J. Biol. Chem. 1998) 3 4 23
  4. Complete analysis of the glycosylation and disulfide bond pattern of human beta-hexosaminidase B by MALDI-MS. (PMID: 11447134) Schuette C.G. … Sandhoff K. (Glycobiology 2001) 3 4 23
  5. The X-ray crystal structure of human beta-hexosaminidase B provides new insights into Sandhoff disease. (PMID: 12706724) Maier T. … Saenger W. (J. Mol. Biol. 2003) 3 4 23

Products for HEXB Gene

Sources for HEXB Gene

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