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HEXA Gene

protein-coding   GIFtS: 69
GCID: GC15M072635

Hexosaminidase A (Alpha Polypeptide)

  See HEXA-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 gm2-gangliosidosis, several forms. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NC_018926.2  NT_010194.18  
Regulatory elements:
   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 Chromatin IP Primers for HEXA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: 

  • N-linked glycan at Asn-115 consists of Man(3)-GlcNAc(2)1
  • Glycosylation2 at Asn115, Asn157, Asn295
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for HEXA (P06865) (see all 14)
     PRFPHRG  HLGGDEV  PRLWPRA  LSAPWYL 


    See HEXA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000511.2  
    ENSEMBL proteins: 
     ENSP00000268097   ENSP00000455545   ENSP00000455114   ENSP00000457521   ENSP00000456489  
     ENSP00000456346   ENSP00000457037   ENSP00000457125   ENSP00000458128   ENSP00000416187  
     ENSP00000398026  
    Reactome Protein details: P06865

    HEXA Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for HEXA (Hexosaminidase A/HEXA)
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    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.

     
    Search eBioscience for Proteins for HEXA 

     
    antibodies-online proteins for HEXA (7 products) 

     
    antibodies-online peptides for HEXA

    HEXA Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals HEXA Antibodies
    Abcam antibodies for HEXA
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for HEXA
    antibodies-online antibodies for HEXA (57 products) 

    HEXA Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for HEXA 
    antibodies-online kits for HEXA (22 products) 


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

    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


    Find genes that share domains with HEXA           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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
         
    Find genes that share ontologies with HEXA           About GenesLikeMe


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

    Find genes that share phenotypes with HEXA           About GenesLikeMe

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

       genOway: Develop your customized and physiologically relevant rodent model for HEXA

    miRNA
    Products:
        
    miRTarBase miRNAs that target HEXA:
    hsa-mir-615-3p (MIRT039954), hsa-mir-26b-5p (MIRT028906)

    Block miRNA regulation of human, mouse, rat HEXA using miScript Target Protectors
    4 qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for HEXA
    Predesigned siRNA for gene silencing in human, mouse, rat HEXA

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HEXA

    Clone
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    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

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for HEXA
    Browse ESI BIO Cell Lines and PureStem Progenitors for HEXA 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEXA


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HEXA_HUMAN, P06865: Lysosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    mitochondrion2
    cytosol1
    endoplasmic reticulum1
    extracellular1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    Find genes that share ontologies with HEXA           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for HEXA About   (see all 12)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    2MPS VI - Maroteaux-Lamy syndrome
    MPS VI - Maroteaux-Lamy syndrome0.45
    MPS IIID - Sanfilippo syndrome D0.45
    MPS IIIC - Sanfilippo syndrome C0.45
    MPS I - Hurler syndrome0.45
    MPS IV - Morquio syndrome A0.45
    MPS IV - Morquio syndrome B0.45
    MPS IIIA - Sanfilippo syndrome A0.45
    MPS VII - Sly syndrome0.45
    3Keratan sulfate/keratin metabolism
    Keratan sulfate/keratin metabolism0.85
    Keratan sulfate degradation0.00
    4Sphingolipid metabolism
    Sphingolipid metabolism0.61
    Glycosphingolipid metabolism0.56
    5Chondroitin sulfate/dermatan sulfate metabolism
    Chondroitin sulfate/dermatan sulfate metabolism0.51
    CS/DS degradation0.00


    Find genes that share SuperPaths with HEXA           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    4 Reactome Pathways for HEXA
        Glycosphingolipid metabolism
    Hyaluronan uptake and degradation
    Keratan sulfate degradation
    CS/DS degradation


    Selected 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

        Pathway & Disease-focused RT2 Profiler PCR Array including HEXA: 
              Glycosylation in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for HEXA

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

    Selected Interacting proteins for HEXA (P068651, 2, 3 ENSP000002680974) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    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): Selected biological process terms (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--

    Find genes that share ontologies with HEXA           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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]

    Selected 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--

    Selected 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)



    Find genes that share compounds with HEXA           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for HEXA gene: 
    NM_000520.4  

    Unigene Cluster for HEXA:

    Hexosaminidase A (alpha polypeptide)
    Hs.604479  [show with all ESTs]
    Unigene Representative Sequence: BX537989
    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
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    4 qRT-PCR 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
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    OriGene RNAi products in human, mouse, rat for HEXA
    Predesigned siRNA for gene silencing in human, mouse, rat HEXA
    Clone
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    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
    Primer
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    OriGene qPCR primer pairs and template standards for HEXA
    OriGene qSTAR qPCR primer pairs in human, mouse for HEXA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HEXA
      QuantiTect SYBR Green Assays in human, mouse, rat HEXA
      QuantiFast Probe-based Assays in human, mouse, rat HEXA

    Additional mRNA sequence: 

    AK222502.1 AK296528.1 AK297678.1 AK301000.1 AK301138.1 AK307770.1 AK310154.1 BC001138.2 
    BC018927.2 BC021030.1 BC084537.1 BX537989.1 CR627386.1 J04178.1 M13520.1 

    Selected DOTS entries (see all 29):

    DT.448889  DT.99984787  DT.91645381  DT.99978133  DT.410867  DT.100887698  DT.121081476  DT.100887702 
    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.92455161  DT.95130255  DT.95266747  DT.95266751 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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

    HEXA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HEXA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.604479
        Pathway & Disease-focused RT2 Profiler 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
    Pre-validated 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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for HEXA gene from Selected 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) 68.27(n)
    66.6(a)
      415320  NM_001030390.1  NP_001025561.1 
    lizard
    (Anolis carolinensis)
    Reptilia HEXA6
    hexosaminidase A (alpha polypeptide)
    63(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 HEXO3 49.69(n)
    43.47(a)
      842871  NM_105233.4  NP_176737.2 
    rice
    (Oryza sativa)
    Liliopsida Os01g08910001 Os01g0891000 48.2(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)
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    Paralogs for HEXA gene
    HEXB2  
    1 SIMAP similar gene for HEXA using alignment to 26 protein entries:     HEXA_HUMAN (see all proteins):
    HEXB

    Find genes that share paralogs with HEXA           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HEXA (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
    ----------
    rs289420711,2,,4
    CGM2-gangliosidosis 1 (GM2G1)4 pathogenic152687817(-) ACTTCC/TGCTGT 2 R C mis11Minor allele frequency- T:0.00NA 4552
    rs1995781851,2,,4
    GM2-gangliosidosis 1 (GM2G1)4 --52691536(+) TATTAC/TTGAGA 2 N S mis10--------
    rs18004291,2,,4
    CGM2-gangliosidosis 1 (GM2G1)4 pathogenic152693562(-) TGAACG/ATGTTC 2 /M /V mis12Minor allele frequency- A:0.00NA 4
    rs289417701,2,,4
    CGM2-gangliosidosis 1 (GM2G1)4 pathogenic152695457(-) ATCTCA/G/TCCATT 3 H R L mis10--------
    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--------

    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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HEXA
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 16 diseases for HEXA:    
    About MalaCards
    tay-sachs disease    gm2-gangliosidosis, several forms    tay-sachs disease, b1 variant    tay-sachs disease, b variant, infantile form
    gangliosidosis    sensory peripheral neuropathy    tay-sachs disease, b variant, juvenile form    tay-sachs disease, b variant, adult form
    internuclear ophthalmoplegia    mucolipidosis iv    sandhoff disease    alpha-mannosidosis
    gangliosidosis gm1    fucosidosis    mucolipidosis    amyotrophic lateral sclerosis

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

    Find genes that share disorders with HEXA           About GenesLikeMe

    Selected 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)
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    PubMed articles for HEXA gene, integrated from 10 sources (see all 251):
    (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. (Neurology 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. (Am. J. Hum. Genet. 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. (Hum. Mutat. 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. (J. Biol. Chem. 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. (J. Biol. Chem. 1986)
    6. GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A. (PubMed id 8581357)1, 2, 9 Peleg L.... Goldman B. (Biochem. Mol. Med. 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. (Pediatr. Res. 2010)
    8. Tay-Sachs disease and HEXA mutations among Moroccan Jews. (PubMed id 9338583)1, 2, 9 Kaufman M.... Navon R. (Hum. Mutat. 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. (J. Hum. Genet. 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. (Am. J. Hum. Genet. 1992)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 3073 HGNC: 4878 AceView: HEXA.1 Ensembl:ENSG00000213614 euGenes: HUgn3073
    ECgene: HEXA Kegg: 3073 H-InvDB: HEXA

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HEXA Pharmacogenomics, SNPs, Pathways
    HEXAdbhttp://www.hexdb.mcgill.ca/?Topic=HEXAdb
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HEXA[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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