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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 64
  • 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

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, infantile, juvenile, and adult forms. 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

Gene Wiki entry for HEXB Gene

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

Genomics for HEXB Gene

Genomic Location for HEXB Gene

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

Regulatory Elements 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
    Secondary Accessions:

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

Other Protein References for HEXB Gene

Domains for HEXB Gene

UniProtKB/Swiss-Prot:

HEXB_HUMAN
Family:
  • Belongs to the glycosyl hydrolase 20 family.:
    • P07686
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:

miRNA for HEXB Gene

miRTarBase miRNAs that target HEXB

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

Lysosome.

Subcellular locations from

COMPARTMENTS
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

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

(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]
JW 480 Potent and selective inhibitor of serine hydrolase KIAA1363 (AADACL1) [1354359-53-7]
Thiamet G Potent O-GlcNAcase inhibitor [1009816-48-1]
WWL 70 Potent ABHD6 inhibitor [947669-91-2]

(55) HMDB Compounds for HEXB Gene

Compound Synonyms Cas Number PubMed IDs
Chitobiose
  • CBS
577-76-4
Ganglioside GA2 (d18:1/12:0)
  • Asialo GM2
88506-68-7
Ganglioside GA2 (d18:1/16:0)
  • Asialo GM2
88506-68-7
Ganglioside GA2 (d18:1/18:0)
  • Asialo GM2
88506-68-7
Ganglioside GA2 (d18:1/20:0)
  • Asialo GM2
88506-68-7

(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:

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

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

Orthologs for HEXB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HEXB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HEXB 36
  • 99.28 (n)
  • 98.56 (a)
HEXB 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 37
  • 72 (a)
OneToMany
-- 37
  • 62 (a)
OneToMany
HEXB 36
  • 81.08 (n)
  • 74.17 (a)
dog
(Canis familiaris)
Mammalia HEXB 36
  • 83.37 (n)
  • 77.26 (a)
HEXB 37
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hexb 36
  • 79.7 (n)
  • 77.26 (a)
Hexb 16
Hexb 37
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HEXB 37
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HEXB 37
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hexb 36
  • 79.51 (n)
  • 75.14 (a)
chicken
(Gallus gallus)
Aves HEXB 36
  • 69.44 (n)
  • 68.12 (a)
HEXB 37
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HEXB 37
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hexb 36
  • 65.14 (n)
  • 63.42 (a)
zebrafish
(Danio rerio)
Actinopterygii hexa 36
  • 62.33 (n)
  • 64 (a)
hexb 37
  • 59 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010056 36
  • 49.67 (n)
  • 45.88 (a)
fruit fly
(Drosophila melanogaster)
Insecta fdl 37
  • 24 (a)
ManyToMany
Hexo1 37
  • 25 (a)
ManyToMany
Hexo2 37
  • 27 (a)
ManyToMany
Hexo2 38
  • 34 (a)
Hexo1 38
  • 33 (a)
worm
(Caenorhabditis elegans)
Secernentea hex-1 36
  • 52.55 (n)
  • 47.37 (a)
hex-1 37
  • 39 (a)
OneToMany
T14F9.3 38
  • 44 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons HEXO1 36
  • 47.9 (n)
  • 37.53 (a)
corn
(Zea mays)
Liliopsida Zm.3467 36
rice
(Oryza sativa)
Liliopsida Os.9285 36
Os05g0115900 36
  • 49.23 (n)
  • 38.59 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.20760 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7268 37
  • 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

Selected 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
HEXB
Human Gene Mutation Database (HGMD)
HEXB
Locus Specific Mutation Databases (LSDB)
HEXB

Disorders for HEXB Gene

(1) OMIM Diseases for HEXB Gene (606873)

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.

(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)
HEXB
Human Genome Epidemiology (HuGE) Navigator
HEXB
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 49
  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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