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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HEXA Gene

protein-coding   GIFtS: 68
GCID: GC15M072635

Hexosaminidase A (Alpha Polypeptide)

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Hexosaminidase A (Alpha Polypeptide)1 2     TSD2 5
Beta-N-Acetylhexosaminidase Subunit Alpha2 3     GM2 Gangliosidosis1
Hexosaminidase Subunit A2 3     Tay Sachs Disease1
N-Acetyl-Beta-Glucosaminidase Subunit Alpha2 3     Beta-Hexosaminidase Subunit Alpha2
EC 3.2.1.523 8     EC 3.2.18

External Ids:    HGNC: 48781   Entrez Gene: 30732   Ensembl: ENSG000002136147   OMIM: 6068695   UniProtKB: P068653   

Export aliases for HEXA gene to outside databases

Previous GC identifers: GC15M068437 GC15M065740 GC15M070211 GC15M070351 GC15M070422 GC15M049466


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HEXA Gene:
This gene encodes the alpha 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. Alpha subunit gene mutations lead to Tay-Sachs disease
(GM2-gangliosidosis type I). (provided by RefSeq, Jul 2009)

GeneCards Summary for HEXA Gene: 
HEXA (hexosaminidase A (alpha polypeptide)) is a protein-coding gene. Diseases associated with HEXA include tay-sachs disease, and cerebral lipidosis, and among its related super-pathways are Metabolic pathways and Metabolism of carbohydrates. GO annotations related to this gene include beta-N-acetylhexosaminidase activity and protein heterodimerization activity. An important paralog of this gene is HEXB.

UniProtKB/Swiss-Prot: HEXA_HUMAN, P06865
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

Gene Wiki entry for HEXA Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NT_010194.17  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HEXA gene promoter:
         RFX1   USF1   p53   HTF   USF2   USF-1:USF-2   USF-1   ARP-1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHEXA promoter sequence
   Search SABiosciences Chromatin IP Primers for HEXA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HEXA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q24.1   Ensembl cytogenetic band:  15q23   HGNC cytogenetic band: 15q24.1

HEXA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HEXA gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M072635:  view genomic region     (about GC identifiers)

Start:
72,635,775 bp from pter      End:
72,668,817 bp from pter
Size:
33,043 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: HEXA_HUMAN, P06865 (See protein sequence)
Recommended Name: Beta-hexosaminidase subunit alpha precursor  
Size: 529 amino acids; 60703 Da
Subunit: 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
Subcellular location: Lysosome
3 PDB 3D structures from and Proteopedia for HEXA:
1QBC (3D)        2GJX (3D)        2GK1 (3D)    
Secondary accessions: Q53HS8 Q6AI32

Explore the universe of human proteins at neXtProt for HEXA: NX_P06865

Explore proteomics data for HEXA at MOPED 

Post-translational modifications:

  • UniProtKB: N-linked glycan at Asn-115 consists of Man(3)-GlcNAc(2)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P06865

  • 4/14 DME Specific Peptides for HEXA (P06865) (see all 14)
     PRFPHRG  HLGGDEV  PRLWPRA  LSAPWYL 

    HEXA Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HEXA Protein Expression
    REFSEQ proteins: NP_000511.2  
    ENSEMBL proteins: 
     ENSP00000268097   ENSP00000455545   ENSP00000455114   ENSP00000457521   ENSP00000456489  
     ENSP00000456346   ENSP00000457037   ENSP00000457125   ENSP00000458128   ENSP00000416187  
     ENSP00000398026  
    Reactome Protein details: P06865
    Human Recombinant Protein Products for HEXA: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for HEXA (Hexosaminidase A/HEXA)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for HEXA
    OriGene Protein Over-expression Lysate for HEXA
    OriGene MassSpec for HEXA 
    OriGene Custom Protein Services for HEXA
    GenScript Custom Purified and Recombinant Proteins Services for HEXA
    Novus Biologicals HEXA Proteins
    Novus Biologicals HEXA Lysates
    Sino Biological Recombinant Protein for HEXA
    Sino Biological Cell Lysate for HEXA 
    ProSpec Recombinant Protein for HEXA
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome ----
    GO:0016020membrane IEA--
    GO:0043202lysosomal lumen TAS--

    HEXA for ontologies           About GeneDecksing



    HEXA Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for HEXA (Hexosaminidase A/HEXA)
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    OriGene Custom Antibody Services for HEXA
    GenScript Custom Superior Antibodies Services for HEXA
    Novus Biologicals HEXA Antibodies
    Abcam antibodies for HEXA
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibody for HEXA
    LSBio Antibodies in human, mouse, rat for HEXA 

    Assay Products for HEXA: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for HEXA
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HEXA
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR015883 Glyco_hydro_20_cat-core
     IPR017853 Glycoside_hydrolase_SF
     IPR025705 Beta_hexosaminidase_sua/sub
     IPR013781 Glyco_hydro_catalytic_dom
     IPR015882 Glyco_hydro_20b

    Graphical View of Domain Structure for InterPro Entry P06865

    ProtoNet protein and cluster: P06865

    1 Blocks protein domain: IPB001540 Glycosyl hydrolase family 20 signature

    UniProtKB/Swiss-Prot: HEXA_HUMAN, P06865
    Similarity: Belongs to the glycosyl hydrolase 20 family


    HEXA for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HEXA_HUMAN, P06865
    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
    Catalytic activity: Hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in
    N-acetyl-beta-D-hexosaminides

         Genatlas biochemistry entry for HEXA:
    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

         Enzyme Numbers (IUBMB): EC 3.2.1.521 2 EC 3.2.12

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004553hydrolase activity, hydrolyzing O-glycosyl compounds ----
    GO:0004563beta-N-acetylhexosaminidase activity IEA--
    GO:0046982protein heterodimerization activity IDA6230359
         
    HEXA for ontologies           About GeneDecksing


    Phenotypes:
         13 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Hexa):
     behavior/neurological  craniofacial  growth/size  hearing/vestibular/ear  homeostasis/metabolism 
     limbs/digits/tail  liver/biliary system  mortality/aging  nervous system  renal/urinary system 
     reproductive system  skeleton  vision/eye 

    HEXA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for HEXA: Hexatm1Grv Hexatm1Cota Hexatm1Rlp

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HEXA 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HEXA

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HEXA 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HEXA 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HEXA
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate HEXA:
    hsa-miR-4283 hsa-miR-661 hsa-miR-3065-3p hsa-miR-3190
    SwitchGear 3'UTR luciferase reporter plasmidHEXA 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HEXA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HEXA

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HEXA
    Sirion Biotech Customized adenovirus for overexpression of HEXA

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for HEXA (see all 8)
    OriGene ORF clones in mouse, rat for HEXA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HEXA (NM_000520)
    Sino Biological Human cDNA Clone for HEXA
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HEXA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HEXA
    Sirion Biotech Customized lentivirus for stable overexpression of HEXA 
                         Customized lentivirus expression plasmids for stable overexpression of HEXA 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for HEXA
    Search LifeMap BioReagents cell lines for HEXA
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEXA


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HEXA About   (see all 14)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    2MPS IIIC - Sanfilippo syndrome C
    MPS IIIC - Sanfilippo syndrome C0.48
    Mucopolysaccharidoses0.48
    MPS IV - Morquio syndrome A0.48
    MPS IIID - Sanfilippo syndrome D0.48
    MPS IV - Morquio syndrome B0.48
    MPS I - Hurler syndrome0.48
    MPS VI - Maroteaux-Lamy syndrome0.48
    MPS IX - Natowicz syndrome0.48
    3Hyaluronan uptake and degradation
    Hyaluronan uptake and degradation0.71
    Hyaluronan metabolism0.71
    4Sphingolipid metabolism
    Sphingolipid metabolism0.63
    Glycosphingolipid metabolism0.55
    5Keratan sulfate biosynthesis
    Keratan sulfate/keratin metabolism0.82
    Keratan sulfate degradation0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    5/25        Reactome Pathways for HEXA (see all 25)
        Sphingolipid metabolism
    Hyaluronan metabolism
    Chondroitin sulfate/dermatan sulfate metabolism
    MPS VI - Maroteaux-Lamy syndrome
    Metabolism


    5/7         Kegg Pathways  (Kegg details for HEXA) (see all 7):
        Other glycan degradation
    Amino sugar and nucleotide sugar metabolism
    Glycosaminoglycan degradation
    Glycosphingolipid biosynthesis - globo series
    Glycosphingolipid biosynthesis - ganglio series


    HEXA for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HEXA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/26 Interacting proteins for HEXA (P068651, 2, 3 ENSP000002680974) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005191, 3, ENSP000003614234EBI-723519,EBI-375543 I2D: score=1 STRING: ENSP00000361423
    CRKP461081, 3, ENSP000003005744EBI-723519,EBI-886 I2D: score=1 STRING: ENSP00000300574
    FYNP062411, 3, ENSP000003576564EBI-723519,EBI-515315 I2D: score=1 STRING: ENSP00000357656
    USP22Q9UPT92, 3, ENSP000002614974MINT-65788 I2D: score=4 STRING: ENSP00000261497
    GM2AP179003, ENSP000003496874I2D: score=3 STRING: ENSP00000349687
    About this table

    Gene Ontology (GO): 5/24 biological process terms (GO ID links to tree view) (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development IEA--
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0006689ganglioside catabolic process IEA--

    HEXA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HEXA for compounds           About GeneDecksing

    EMD Millipore small molecules for HEXA:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for HEXA available from Tocris Bioscience    About this table
    CompoundAction CAS #
    (Z)-PugnacO-GlcNAcase and beta-hexosaminidase inhibitor[132489-69-1]
    Thiamet GPotent O-GlcNAcase inhibitor[1009816-48-1]
    JW 480Potent and selective inhibitor of serine hydrolase KIAA1363 (AADACL1)[1354359-53-7]
    FlurofamideUrease inhibitor[70788-28-2]
    WWL 70Potent ABHD6 inhibitor[947669-91-2]

    10/55 HMDB Compounds for HEXA (see all 55)    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChitobioseCBS (see all 3)577-76-4--
    Ganglioside GA2 (d18:1/12:0)Asialo GM2 (see all 9)88506-68-7--
    Ganglioside GA2 (d18:1/16:0)Asialo GM2 (see all 9)88506-68-7--
    Ganglioside GA2 (d18:1/18:0)Asialo GM2 (see all 9)88506-68-7--
    Ganglioside GA2 (d18:1/20:0)Asialo GM2 (see all 9)88506-68-7--
    Ganglioside GA2 (d18:1/22:0)Asialo GM2 (see all 9)88506-68-7--
    Ganglioside GA2 (d18:1/24:0)Asialo GM2 (see all 9)88506-68-7--
    Ganglioside GA2 (d18:1/24:1(15Z))Asialo GM2 (see all 10)88506-68-7--
    Ganglioside GA2 (d18:1/25:0)Asialo GM2 (see all 9)88506-68-7--
    Ganglioside GA2 (d18:1/26:0)Asialo GM2 (see all 9)88506-68-7--

    10/15 Novoseek inferred chemical compound relationships for HEXA gene (see all 15)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    g(m2) ganglioside 91.6 3 2174089 (1), 18693054 (1), 18642377 (1)
    4mugs 88.4 2 8403628 (1)
    ganglioside 82.1 21 8995368 (1), 9153525 (1), 16092933 (1), 8634145 (1) (see all 19)
    asialo gm2 67.4 1 10497228 (1)
    cerebroside 51.1 1 15275696 (1)
    n-acetylglucosamine 50.7 3 16092933 (1), 10231373 (1), 1837501 (1)
    deae-cellulose 49.5 2 11074069 (1), 1837780 (1)
    mannose 6-phosphate 43.9 8 17557860 (2), 16092933 (1), 9536087 (1)
    glycolipid 42.4 1 10571007 (1)
    glucuronic acid 16.8 3 9643539 (1), 10231373 (1)

    Search CenterWatch for drugs/clinical trials and news about HEXA

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HEXA gene: 
    NM_000520.4  

    Unigene Clusters for HEXA:

    Hexosaminidase A (alpha polypeptide)
    Hs.604479  [show with all ESTs], Hs.709495  [show with all ESTs]
    Unigene Representative Sequences: BX537989, BC034424
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000268097(uc010ukn.2 uc002aun.4 uc010bix.3 uc010biy.2 uc010uko.1)
    ENST00000565873 ENST00000564677 ENST00000567411 ENST00000566304 ENST00000569116
    ENST00000567027 ENST00000568777 ENST00000567159 ENST00000563762 ENST00000566672
    ENST00000569410 ENST00000569509 ENST00000568260 ENST00000563908 ENST00000567213
    ENST00000429918 ENST00000457859

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HEXA
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate HEXA:
    hsa-miR-4283 hsa-miR-661 hsa-miR-3065-3p hsa-miR-3190
    SwitchGear 3'UTR luciferase reporter plasmidHEXA 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HEXA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HEXA
    Clone
    Products:
         
    OriGene clones in human, mouse for HEXA (see all 8)
    OriGene ORF clones in mouse, rat for HEXA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HEXA (NM_000520)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HEXA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HEXA
    Sirion Biotech Customized lentivirus for stable overexpression of HEXA 
                         Customized lentivirus expression plasmids for stable overexpression of HEXA 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for HEXA
    OriGene qSTAR qPCR primer pairs in human, mouse for HEXA
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HEXA
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HEXA
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HEXA

    Additional mRNA sequence: BC034424.1 

    24/30 DOTS entries (see all 30):

    DT.448889  DT.99984787  DT.91645381  DT.99978133  DT.100887702  DT.410867  DT.100887698  DT.121081476 
    DT.100887708  DT.121081433  DT.121081458  DT.85104534  DT.92455160  DT.100842161  DT.100887699  DT.100887700 
    DT.100887704  DT.121081430  DT.121081452  DT.121081516  DT.91741871  DT.92455161  DT.95130255  DT.95266747 

    2 AceView cDNA sequences:

    BC034424 BG719867 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HEXA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCACATTCT
    HEXA Expression
    About this image


    See HEXA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HEXA

    SOURCE GeneReport for Unigene clusters: Hs.604479 Hs.709495
        SABiosciences Expression via Pathway-Focused PCR Array including HEXA: 
              Glycosylation in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for HEXA
    OriGene qSTAR qPCR primer pairs in human, mouse for HEXA
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HEXA
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for HEXA gene from 9/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hexa1 , 5 hexosaminidase A1, 5 84.41(n)1
    84.28(a)1
      9 (32.02 cM)5
    152111  NM_010421.41  NP_034551.21 
     595396675 
    chicken
    (Gallus gallus)
    Aves HEXA1 hexosaminidase A (alpha polypeptide) 68.95(n)
    67.71(a)
      415320  NM_001030390.1  NP_001025561.1 
    lizard
    (Anolis carolinensis)
    Reptilia HEXA6
    hexosaminidase A (alpha polypeptide)
    64(a)
    1 ↔ 1
    GL343872.1(106646-132295)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX706957.12   -- 72.51(n)    BX706957.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc04h112 Transcribed sequence with weak similarity to protein more 73.96(n)    CF998279.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hexo23 beta-N-acetylhexosaminidase 35(a)
    (best of 2)
      8A2   --
    worm
    (Caenorhabditis elegans)
    Secernentea T14F9.33 beta-hexosaminidase beta subunit 41(a)   X(2258788-2261813)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons HEXO31 beta-hexosaminidase 3 48.74(n)
    42.86(a)
      842871  NM_105233.4  NP_176737.2 
    rice
    (Oryza sativa)
    Liliopsida Os01g08910001 hypothetical protein 48.12(n)
    40.26(a)
      4324914  NM_001051587.1  NP_001045052.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HEXA gene
    HEXB2  
    1 SIMAP similar gene for HEXA using alignment to 23 protein entries:     HEXA_HUMAN (see all proteins):
    HEXB

    HEXA for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/780 SNPs in HEXA are shown (see all 780)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0032084
    GM2-gangliosidosis 1 (GM2G1)4--see VAR_0032082 R C mis40--------
    VAR_0032044
    GM2-gangliosidosis 1 (GM2G1)4--see VAR_0032042 L R mis40--------
    VAR_0032274
    GM2-gangliosidosis 1 (GM2G1)4--see VAR_0032272 M R mis40--------
    VAR_0032224
    GM2-gangliosidosis 1 (GM2G1)4--see VAR_0032222 G S mis40--------
    VAR_0032414
    GM2-gangliosidosis 1 (GM2G1)4--see VAR_0032412 L Q mis40--------
    VAR_0032144
    GM2-gangliosidosis 1 (GM2G1)4--see VAR_0032142 K T mis40--------
    VAR_0032394
    GM2-gangliosidosis 1 (GM2G1)4--see VAR_0032392 W C mis40--------
    VAR_0032174
    GM2-gangliosidosis 1 (GM2G1)4--see VAR_0032172 S F mis40--------
    VAR_0032304
    GM2-gangliosidosis 1 (GM2G1)4--see VAR_0032302 I F mis40--------
    VAR_0032124
    GM2-gangliosidosis 1 (GM2G1)4--see VAR_0032122 V L mis40--------

    HapMap Linkage Disequilibrium report for HEXA (72635775 - 72668817 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for HEXA:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2603997CNV Insertion19546169
    nsv521971CNV Gain19592680
    nsv7267OTHER Inversion18451855


    Human Gene Mutation Database (HGMD): HEXA

    Locus Specific Mutation Databases (LSDB): HEXA
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606869   
    OMIM disorders: 272800  
    UniProtKB/Swiss-Prot: HEXA_HUMAN, P06865
  • 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). Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 20/55 diseases for HEXA (see all 55):    About MalaCards
    tay-sachs disease    cerebral lipidosis    tay-sachs disease, b1 variant    tay-sachs disease, b variant, infantile form
    gm2-gangliosidosis, several forms    tay-sachs disease, b variant, juvenile form    tay-sachs disease, b variant, adult form    hex a pseudodeficiency
    gangliosidosis    sandhoff disease    mucolipidosis iv    alpha-mannosidosis
    internuclear ophthalmoplegia    sensory peripheral neuropathy    mucolipidosis    hallervorden-spatz syndrome
    gangliosidosis gm1    fucosidosis    krabbe disease    leukodystrophy

    5 diseases from the University of Copenhagen DISEASES database for HEXA:
    Tay-Sachs disease     Sandhoff disease     Fucosidosis     alpha-mannosidosis
    Niemann-Pick disease

    HEXA for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/23 Novoseek inferred disease relationships for HEXA gene (see all 23)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tay-sachs disease 98.6 99 10852376 (2), 14566483 (2), 2136940 (2), 14972652 (2) (see all 72)
    gm2 gangliosidosis 96.7 27 9153525 (3), 11339652 (3), 18648917 (2), 7732608 (1) (see all 21)
    sandhoff disease 95.2 20 2122616 (1), 8530938 (1), 16092933 (1), 8634145 (1) (see all 20)
    gangliosidosis 92.5 10 9603435 (2), 8995368 (1), 9821868 (1), 14997456 (1) (see all 8)
    lysosomal storage diseases 78.4 6 16092933 (1), 17557860 (1), 8875224 (1), 1424119 (1) (see all 6)
    gangliosidosis gm1 67.8 2 14997456 (1), 15275696 (1)
    motor neuron disease 55.3 3 8530938 (1), 11460829 (1), 2100033 (1)
    gaucher disease 53.8 3 9554684 (1), 15275696 (1), 7973467 (1)
    muscular atrophy spinal 48.6 4 9153525 (1), 11460829 (1), 7898712 (1), 10434678 (1)
    neurodegenerative diseases 44.4 8 1387862 (1), 8634145 (1), 10196372 (1), 16441513 (1) (see all 6)

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

    GeneTests: HEXA
    GeneReviews: HEXA
    Genetic Association Database (GAD): HEXA
    Human Genome Epidemiology (HuGE) Navigator: HEXA (7 documents)

    Export disorders for HEXA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HEXA gene, integrated from 9 sources (see all 250):
    (articles sorted by number of sources associating them with HEXA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A new mutation in the HEXA gene associated with a spinal muscular atrophy phenotype. (PubMed id 7898712)1, 2, 4, 9 Navon R.... Rondot P. (1995)
    2. A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation. (PubMed id 7902672)1, 2, 4, 9 Cao Z.... Triggs-Raine B.L. (1993)
    3. W474C amino acid substitution affects early processing of the alpha- subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis. (PubMed id 9603435)1, 2, 4, 9 Petroulakis E....Triggs-Raine B. (1998)
    4. Organization of the gene encoding the human beta-hexosaminidase alpha-chain. (PubMed id 2952641)1, 2, 3 Proia R.L. and Soravia E. (1987)
    5. Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease. (PubMed id 3013851)1, 2, 3 Korneluk R.G....Gravel R.A. (1986)
    6. GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A. (PubMed id 8581357)1, 2, 9 Peleg L.... Goldman B. (1995)
    7. 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. (PubMed id 19858779)1, 4, 9 Park N.J....Strom C.M. (2010)
    8. Tay-Sachs disease and HEXA mutations among Moroccan Jews. (PubMed id 9338583)1, 2, 9 Kaufman M.... Navon R. (1997)
    9. 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. (PubMed id 14566483)1, 2, 9 Tanaka A.... Yamano T. (2003)
    10. Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals. (PubMed id 1532289)1, 2, 9 Mules E.H.... Thomas G.H. (1992)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3073 HGNC: 4878 AceView: HEXA.1 Ensembl:ENSG00000213614 euGenes: HUgn3073
    ECgene: HEXA Kegg: 3073 H-InvDB: HEXA

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HEXA Pharmacogenomics, SNPs, Pathways
    HEXAdbhttp://www.hexdb.mcgill.ca/?Topic=HEXAdb
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HEXA

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HEXA gene:
    Search GeneIP for patents involving HEXA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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