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Aliases for HEXA Gene

Aliases for HEXA Gene

  • Hexosaminidase Subunit Alpha 2 3
  • Hexosaminidase A (Alpha Polypeptide) 2 3 5
  • N-Acetyl-Beta-Glucosaminidase Subunit Alpha 3 4
  • Beta-N-Acetylhexosaminidase Subunit Alpha 3 4
  • Hexosaminidase Subunit A 3 4
  • EC 3.2.1.52 4 63
  • Beta-Hexosaminidase Subunit Alpha 2
  • GM2 Gangliosidosis 2
  • Tay Sachs Disease 2
  • EC 3.2.1 63
  • TSD 3

External Ids for HEXA Gene

Previous GeneCards Identifiers for HEXA Gene

  • GC15M068437
  • GC15M065740
  • GC15M070211
  • GC15M070351
  • GC15M070422
  • GC15M072635
  • GC15M049466

Summaries for HEXA Gene

Entrez Gene Summary for HEXA Gene

  • This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]

GeneCards Summary for HEXA Gene

HEXA (Hexosaminidase Subunit Alpha) is a Protein Coding gene. Diseases associated with HEXA include tay-sachs disease and tay-sachs disease, b variant, juvenile form. Among its related pathways are Metabolism and Glycosphingolipid biosynthesis - globo series. GO annotations related to this gene include protein heterodimerization activity and beta-N-acetylhexosaminidase activity. An important paralog of this gene is HEXB.

UniProtKB/Swiss-Prot for HEXA 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. The form B is active against certain oligosaccharides. The form S has no measurable activity.

Tocris Summary for HEXA Gene

Gene Wiki entry for HEXA Gene

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

Genomics for HEXA Gene

Regulatory Elements for HEXA Gene

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

ENSRs around HEXA on UCSC Golden Path with GeneCards custom track

Genomic Location for HEXA Gene

Chromosome:
15
Start:
72,340,919 bp from pter
End:
72,376,476 bp from pter
Size:
35,558 bases
Orientation:
Minus strand

Genomic View for HEXA Gene

Genes around HEXA on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for HEXA Gene

Proteins for HEXA Gene

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

    Protein Symbol:
    P06865-HEXA_HUMAN
    Recommended name:
    Beta-hexosaminidase subunit alpha
    Protein Accession:
    P06865
    Secondary Accessions:
    • B4DKE7
    • E7ENH7
    • Q53HS8
    • Q6AI32

    Protein attributes for HEXA Gene

    Size:
    529 amino acids
    Molecular mass:
    60703 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.

    Three dimensional structures from OCA and Proteopedia for HEXA Gene

    Alternative splice isoforms for HEXA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HEXA Gene

Proteomics data for HEXA Gene at MOPED

Post-translational modifications for HEXA Gene

  • N-linked glycan at Asn-115 consists of Man(3)-GlcNAc(2).
  • Glycosylation at Asn 115, Asn 157, and Asn 295
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for HEXA (Hexosaminidase A/HEXA)

Domains & Families for HEXA Gene

Graphical View of Domain Structure for InterPro Entry

P06865

UniProtKB/Swiss-Prot:

HEXA_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 HEXA: view

No data available for Gene Families for HEXA Gene

Function for HEXA Gene

Molecular function for HEXA Gene

GENATLAS Biochemistry:
hexosaminidase A,alpha polypeptide,lysosomal,catalyzing the degradation of glycosphingolipids with terminal alpha-galactosyl residues in most non neuronal tissues and in body fluids,hydrolyzing ganglioside GM2,glycoproteins,glycosamino-glycans,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. The form B is active against certain oligosaccharides. The form S has no measurable activity.

Enzyme Numbers (IUBMB) for HEXA Gene

Gene Ontology (GO) - Molecular Function for HEXA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008375 acetylglucosaminyltransferase activity IDA 25645918
genes like me logo Genes that share ontologies with HEXA: view
genes like me logo Genes that share phenotypes with HEXA: view

Human Phenotype Ontology for HEXA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HEXA Gene

MGI Knock Outs for HEXA:

Animal Model Products

No data available for Transcription Factor Targets and HOMER Transcription for HEXA Gene

Localization for HEXA Gene

Subcellular locations from UniProtKB/Swiss-Prot for HEXA Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HEXA Gene COMPARTMENTS Subcellular localization image for HEXA gene
Compartment Confidence
extracellular 5
lysosome 5
vacuole 5
cytosol 2
endosome 2
mitochondrion 2
plasma membrane 2
endoplasmic reticulum 1
golgi apparatus 1
nucleus 1

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

Pathways & Interactions for HEXA Gene

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

Gene Ontology (GO) - Biological Process for HEXA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006024 glycosaminoglycan biosynthetic process IDA 25645918
GO:0006665 sphingolipid metabolic process TAS --
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0030204 chondroitin sulfate metabolic process TAS --
GO:0030207 chondroitin sulfate catabolic process TAS --
genes like me logo Genes that share ontologies with HEXA: view

No data available for SIGNOR curated interactions for HEXA Gene

Drugs & Compounds for HEXA Gene

(4) Drugs for HEXA Gene - From: Novoseek, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
N-Acetyl-D-glucosamine Approved Nutra 0
WWL 70 Pharma α/β-hydrolase domain 6 inhibitor, Potent ABHD6 inhibitor 0

(51) Additional Compounds for HEXA 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

(5) Tocris Compounds for HEXA 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 HEXA: view

Transcripts for HEXA Gene

mRNA/cDNA for HEXA Gene

(2) REFSEQ mRNAs :
(16) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(16) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HEXA Gene

Hexosaminidase A (alpha polypeptide):
Representative Sequences:

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

No ASD Table

Relevant External Links for HEXA Gene

GeneLoc Exon Structure for
HEXA
ECgene alternative splicing isoforms for
HEXA

Expression for HEXA Gene

mRNA expression in normal human tissues for HEXA Gene

Protein differential expression in normal tissues from HIPED for HEXA Gene

This gene is overexpressed in Skin (10.7).

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



SOURCE GeneReport for Unigene cluster for HEXA Gene Hs.604479

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

Protein tissue co-expression partners for HEXA Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for HEXA Gene

Orthologs for HEXA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HEXA Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HEXA 35
  • 86.64 (n)
  • 84.5 (a)
HEXA 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HEXA 35
  • 86.3 (n)
  • 82.41 (a)
HEXA 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hexa 35
  • 84.41 (n)
  • 84.28 (a)
Hexa 16
Hexa 36
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hexa 35
  • 83.52 (n)
  • 82.95 (a)
oppossum
(Monodelphis domestica)
Mammalia HEXA 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 74 (a)
OneToMany
-- 36
  • 71 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia HEXA 36
  • 100 (a)
OneToOne
HEXA 35
  • 99.56 (n)
  • 99.62 (a)
chicken
(Gallus gallus)
Aves HEXA 35
  • 68.27 (n)
  • 66.6 (a)
HEXA 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HEXA 36
  • 63 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii zgc:112084 35
  • 60.43 (n)
  • 58.55 (a)
hexa 36
  • 55 (a)
OneToOne
wufc04h11 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11966 35
fruit fly
(Drosophila melanogaster)
Insecta Hexo1 37
  • 32 (a)
Hexo2 37
  • 35 (a)
Hexo1 36
  • 24 (a)
ManyToMany
Hexo2 36
  • 27 (a)
ManyToMany
fdl 36
  • 23 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea T14F9.3 37
  • 41 (a)
hex-1 36
  • 37 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons HEXO3 35
  • 49.69 (n)
  • 43.47 (a)
rice
(Oryza sativa)
Liliopsida Os01g0891000 35
  • 48.2 (n)
  • 40.26 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1883 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7268 36
  • 50 (a)
OneToMany
Species with no ortholog for HEXA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • corn (Zea mays)
  • 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for HEXA Gene

ENSEMBL:
Gene Tree for HEXA (if available)
TreeFam:
Gene Tree for HEXA (if available)

Paralogs for HEXA Gene

Paralogs for HEXA Gene

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

Variants for HEXA Gene

Sequence variations from dbSNP and Humsavar for HEXA Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
VAR_003202 GM2-gangliosidosis 1 (GM2G1)
VAR_003203 GM2-gangliosidosis 1 (GM2G1)
VAR_003204 GM2-gangliosidosis 1 (GM2G1)
VAR_003205 GM2-gangliosidosis 1 (GM2G1)
VAR_003206 GM2-gangliosidosis 1 (GM2G1)

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

Variant ID Type Subtype PubMed ID
nsv7267 OTHER Inversion 18451855
esv2603997 CNV Insertion 19546169
nsv521971 CNV Gain 19592680

Variation tolerance for HEXA Gene

Residual Variation Intolerance Score: 33.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.61; 45.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HEXA Gene

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

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

Disorders for HEXA Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
tay-sachs disease
  • gm2-gangliosidosis, several forms
tay-sachs disease, b variant, juvenile form
  • gm2 gangliosidosis, b variant, juvenile form
tay-sachs disease, b variant, infantile form
  • gm2 gangliosidosis, b variant, infantile form
tay-sachs disease, b1 variant
  • gm2 gangliosidosis, b1 variant
tay-sachs disease, b variant, adult form
  • gm2 gangliosidosis, b variant, adult form
- elite association - COSMIC cancer census association via MalaCards
Search HEXA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HEXA_HUMAN
  • GM2-gangliosidosis 1 (GM2G1) [MIM:272800]: An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. It is characterized by GM2 gangliosides accumulation in the absence of HEXA activity, leading to neurodegeneration and, in the infantile form, death in early childhood. It exists in several forms: infantile (most common and most severe), juvenile and adult (late-onset). {ECO:0000269 PubMed:1301189, ECO:0000269 PubMed:1301190, ECO:0000269 PubMed:1302612, ECO:0000269 PubMed:14566483, ECO:0000269 PubMed:1532289, ECO:0000269 PubMed:1837283, ECO:0000269 PubMed:2144098, ECO:0000269 PubMed:2522679, ECO:0000269 PubMed:2970528, ECO:0000269 PubMed:7717398, ECO:0000269 PubMed:7837766, ECO:0000269 PubMed:7898712, ECO:0000269 PubMed:7951261, ECO:0000269 PubMed:8445615, ECO:0000269 PubMed:8490625, ECO:0000269 PubMed:8581357, ECO:0000269 PubMed:8757036, ECO:0000269 PubMed:9150157, ECO:0000269 PubMed:9338583, ECO:0000269 PubMed:9375850, ECO:0000269 PubMed:9401008, ECO:0000269 PubMed:9603435}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for HEXA Gene

Tay-Sachs disease;GM2 gangliosidosis I,infantile,juvenile,adult types (HEXA deficiency,including B1 variant)

Relevant External Links for HEXA

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

Publications for HEXA Gene

  1. A new mutation in the HEXA gene associated with a spinal muscular atrophy phenotype. (PMID: 7898712) Navon R. … Rondot P. (Neurology 1995) 3 4 23 48 67
  2. Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis. (PMID: 19858779) Park N.J. … Strom C.M. (Pediatr. Res. 2010) 3 23
  3. Activity of lysosomal exoglycosidases in saliva of patients with HIV infection. (PMID: 18217416) KnaA9 M. … Zwierz K. (Adv Med Sci 2007) 3 23
  4. Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles. (PMID: 16088929) Montalvo A.L. … Pittis M.G. (Hum. Mutat. 2005) 3 23
  5. Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form. (PMID: 14566483) Tanaka A. … Yamano T. (J. Hum. Genet. 2003) 3 23

Products for HEXA Gene

Sources for HEXA Gene

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