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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 3.2.1.52 4 63
  • HCC-7 3 4
  • Epididymis Secretory Protein Li 111 3
  • 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 B (Beta Polypeptide)) is a Protein Coding gene. Diseases associated with HEXB include sandhoff disease, infantile form and sandhoff disease, adult form. Among its related pathways are Metabolism 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 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

Chromosome:
5
Start:
74,640,023 bp from pter
End:
74,722,647 bp from pter
Size:
82,625 bases
Orientation:
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:
    P07686-HEXB_HUMAN
    Recommended name:
    Beta-hexosaminidase subunit beta
    Protein Accession:
    P07686

    Protein attributes for HEXB Gene

    Size:
    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
    SequenceCaution:
    • 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

P07686

UniProtKB/Swiss-Prot:

HEXB_HUMAN :
  • Belongs to the glycosyl hydrolase 20 family.
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:0008375 acetylglucosaminyltransferase activity IDA 25645918
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 Targets and HOMER Transcription for HEXB Gene

Localization for HEXB Gene

Subcellular locations from UniProtKB/Swiss-Prot for HEXB Gene

Lysosome.

Subcellular locations from

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

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:0042582 azurophil granule IDA 25645918
GO:0043202 lysosomal lumen TAS --
genes like me logo Genes that share ontologies with HEXB: view

Pathways & Interactions 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

No data available for SIGNOR curated interactions for HEXB Gene

Drugs & Compounds for HEXB Gene

(5) Drugs for HEXB Gene - From: HMDB, DrugBank, 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
Chitobiose
  • CBS
  • Chitodextrin
  • Diacetylchitobiose
577-76-4
Ganglioside GA2 (d18:1/12:0)
  • Asialo GM2
  • Bissulfogangliotetraosylceramide
  • G(A2) Ganglioside
  • GA2
  • GA2 Ganglioside
88506-68-7
Ganglioside GA2 (d18:1/16:0)
  • Asialo GM2
  • Bissulfogangliotetraosylceramide
  • G(A2) Ganglioside
  • GA2
  • GA2 Ganglioside
88506-68-7
Ganglioside GA2 (d18:1/20:0)
  • Asialo GM2
  • Bissulfogangliotetraosylceramide
  • G(A2) Ganglioside
  • GA2
  • GA2 Ganglioside
88506-68-7
Ganglioside GA2 (d18:1/24:0)
  • Asialo GM2
  • Bissulfogangliotetraosylceramide
  • G(A2) Ganglioside
  • GA2
  • GA2 Ganglioside
88506-68-7
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
HEXB
ECgene alternative splicing isoforms for
HEXB

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

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
cow
(Bos Taurus)
Mammalia HEXB 35
  • 81.08 (n)
  • 74.17 (a)
-- 36
  • 72 (a)
OneToMany
-- 36
  • 62 (a)
OneToMany
dog
(Canis familiaris)
Mammalia HEXB 35
  • 83.37 (n)
  • 77.26 (a)
HEXB 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hexb 35
  • 79.7 (n)
  • 77.26 (a)
Hexb 16
Hexb 36
  • 75 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HEXB 35
  • 99.28 (n)
  • 98.56 (a)
HEXB 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hexb 35
  • 79.51 (n)
  • 75.14 (a)
oppossum
(Monodelphis domestica)
Mammalia HEXB 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HEXB 36
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves HEXB 35
  • 69.44 (n)
  • 68.12 (a)
HEXB 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HEXB 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hexb 35
  • 65.14 (n)
  • 63.42 (a)
zebrafish
(Danio rerio)
Actinopterygii hexa 35
  • 62.33 (n)
  • 64 (a)
hexb 36
  • 59 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Hexo1 37
  • 33 (a)
Hexo2 37
  • 34 (a)
fdl 36
  • 24 (a)
ManyToMany
Hexo1 36
  • 25 (a)
ManyToMany
Hexo2 36
  • 27 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010056 35
  • 49.67 (n)
  • 45.88 (a)
worm
(Caenorhabditis elegans)
Secernentea T14F9.3 37
  • 44 (a)
hex-1 35
  • 52.55 (n)
  • 47.37 (a)
hex-1 36
  • 39 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons HEXO1 35
  • 47.9 (n)
  • 37.53 (a)
rice
(Oryza sativa)
Liliopsida Os.9285 35
Os05g0115900 35
  • 49.23 (n)
  • 38.59 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.20760 35
corn
(Zea mays)
Liliopsida Zm.3467 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7268 36
  • 52 (a)
OneToMany
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

ENSEMBL:
Gene Tree for HEXB (if available)
TreeFam:
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
VAR_003247 GM2-gangliosidosis 2 (GM2G2)
VAR_003248 -
VAR_003249 -
VAR_003250 GM2-gangliosidosis 2 (GM2G2)
VAR_003251 GM2-gangliosidosis 2 (GM2G2)

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: 42.32% 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

HapMap Linkage Disequilibrium report
HEXB
Human Gene Mutation Database (HGMD)
HEXB

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

Disorders for HEXB Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
sandhoff disease, infantile form
  • hexosaminidases a and b deficiency, infantile form
sandhoff disease, adult form
  • adult gm2 gangliosidosis 0 variant
sandhoff disease, juvenile form
  • hexosaminidases a and b deficiency, juvenile form
sandhoff disease, infantile, juvenile, and adult forms
  • sandhoff disease
gangliosidosis
  • disease, gangliosidosis
- elite association
Search HEXB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

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

Publications for HEXB Gene

  1. [The pirymethamine influence on hexosoaminidase gene expression in synovial cell culture--preliminary report]. (PMID: 20369738) Olszewski S. … Olszewska E. (Pol. Merkur. Lekarski 2010) 23 67
  2. Mammalian cells contain a second nucleocytoplasmic hexosaminidase. (PMID: 19040401) Gutternigg M. … Wilson I.B. (Biochem. J. 2009) 23 67
  3. Comparative analysis of brain lipids in mice, cats, and humans with Sandhoff disease. (PMID: 19034545) Baek R.C. … Seyfried T.N. (Lipids 2009) 23 67
  4. 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) 23 67
  5. A selective inhibitor Gal-PUGNAc of human lysosomal beta-hexosaminidases modulates levels of the ganglioside GM2 in neuroblastoma cells. (PMID: 19130519) Stubbs K.A. … Vocadlo D.J. (Angew. Chem. Int. Ed. Engl. 2009) 23 67

Products for HEXB Gene

Sources for HEXB Gene

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