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

HEXB Gene

protein-coding   GIFtS: 68
GCID: GC05P073935

hexosaminidase B (beta polypeptide)
 Explore 30 diseases affiliated with
HEXB via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for HEXB    

Aliases
for HEXB gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Hexosaminidase B (Beta Polypeptide)1 2     N-Acetyl-Beta-Glucosaminidase Subunit Beta2 3
Beta-N-Acetylhexosaminidase Subunit Beta2 3     EC 3.2.1.523 8
Cervical Cancer Proto-Oncogene 7 Protein2 3     ENC-1AS2
Hexosaminidase Subunit B2 3     Beta-Hexosaminidase Subunit Beta2
HCC-72 3     

External Ids:    HGNC: 48791   Entrez Gene: 30742   Ensembl: ENSG000000498607   OMIM: 6068735   UniProtKB: P076863   

Export aliases for HEXB gene to outside databases

Previous GC identifers: GC05P072785 GC05P074213 GC05P074019 GC05P074065 GC05P074016 GC05P069185


Summaries
for HEXB gene

(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 HEXB:
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).
(provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: HEXB_HUMAN, P07686
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

Gene Wiki entry for HEXB


Genomic Views
for HEXB 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_006713.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HEXB gene promoter:
         AML1a   Tal-1   Brachyury   Cdc5   E47   S8   POU2F1   Ik-2   POU2F1a   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HEXB promoter sequence
   Search SABiosciences Chromatin IP Primers for HEXB

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


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

Entrez Gene cytogenetic band: 5q13   Ensembl cytogenetic band:  5q13.3   HGNC cytogenetic band: 5q13.3

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

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P073935:  view genomic region     (about GC identifiers)

Start:
 73,935,848 bp from pter      End:
 74,018,472 bp from pter
Size:
 82,625 bases      Orientation:
 plus strand

Proteins
for HEXB gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: HEXB_HUMAN, P07686 (See protein sequence)
Recommended Name: Beta-hexosaminidase subunit beta precursor  
Size: 556 amino acids; 63111 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
Sequence caution: Sequence=AAA51828.1; Type=Frameshift; Positions=21; Sequence=AAA68620.1; Type=Erroneous initiation;
6/8 PDB 3D structures from and Proteopedia for HEXB (see all 8):
1NOU (3D)        1NOW (3D)        1NP0 (3D)        1O7A (3D)        1QBD (3D)        2GJX (3D)    

Explore the universe of human proteins at neXtProt for HEXB: NX_P07686

Post-translational modifications:

  • N-linked glycans at Asn-142 and Asn-190 consist of Man(3)-GlcNAc(2) and Man(5 to 7)-GlcNAc(2), respectively1
  • The beta-A and beta-B chains are produced by proteolytic processing of the precursor beta chain1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P07686

    • 4/7 DME Specific Peptides for HEXB (P07686) (see all 7)
     HLGGDEV  PRLWPRA  LSAPWYL  ARLRGIRV 

    HEXB Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000512.1  
    ENSEMBL proteins: 
     ENSP00000426285   ENSP00000261416   ENSP00000423713   ENSP00000426384   ENSP00000424939  
     ENSP00000424550  
    Reactome Protein details: P07686
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: HEXB
    OriGene Protein Over-expression Lysate: HEXB
    OriGene Custom Protein Services for HEXB 
    GenScript Custom Purified and Recombinant Proteins Services for HEXB
    Novus Biologicals HEXB Protein
    Novus Biologicals HEXB Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001669acrosomal vesicle IEA--
    GO:0005625soluble fraction ----
    GO:0005764lysosome ----
    GO:0016020membrane IEA--
    GO:0043202lysosomal lumen TAS--


    HEXB for ontologies           About GeneDecksing



    HEXB Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of HEXB
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    Novus Biologicals HEXB Antibodies
    Abcam antibodies for HEXB 
    Browse Antibodies at Uscn
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    Assay Products for HEXB: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HEXB
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for HEXB gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HEXB for domains           About GeneDecksing

    5 InterPro domains/families:
     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 P07686

    ProtoNet protein and cluster: P07686

    1 Blocks protein family: IPB001540 Glycosyl hydrolase family 20 signature

    UniProtKB/Swiss-Prot: HEXB_HUMAN, P07686
    Similarity: Belongs to the glycosyl hydrolase 20 family


    Function
    for HEXB gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: HEXB_HUMAN, P07686
    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
    Catalytic activity: Hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides

         Genatlas biochemistry entry for HEXB:
    hexosaminidases A & B,beta polypeptide,lyposomal,hydrolyzing glycoproteins,glucosaminoglycans,glycolipids

    Enzyme Number (IUBMB): EC 3.2.1.521 2

    miRNA
    Products:            		 OriGene 3'-UTR Clone: HEXB
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HEXB
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate HEXB
    SwitchGear 3'UTR luciferase reporter plasmid: HEXB 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HEXB (see all 7)
    OriGene shRNA RFP: HEXB
    OriGene siRNA: HEXB
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HEXB

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

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HEXB (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HEXB
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: HEXB (NM_000521)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HEXB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HEXB 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for HEXB
    Search LifeMap BioReagents cell lines for HEXB

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEXB

    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004563beta-N-acetylhexosaminidase activity IEA--
    GO:0015929hexosaminidase activity ----
    GO:0016231beta-N-acetylglucosaminidase activity ----
    GO:0042803protein homodimerization activity IDA6230359
    GO:0043169cation binding IEA--


    HEXB for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for HEXB:
     Increased HDAC inhibitor resis 

    Animal Models:
         Mouse knock-outs for HEXB: Hexbtm1Grv Hexbtm1Rlp
         15/19 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Hexb) (see all 19):
     adipose tissue  behavior/neurological  cellular  craniofacial  endocrine/exocrine gland 
     growth/size  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system 
     limbs/digits/tail  liver/biliary system  mortality/aging  muscle  nervous system 

    HEXB for phenotypes           About GeneDecksing


    Pathways & Interactions
    for HEXB gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/15 super-pathways (see all 15) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1MPS IIIC - Sanfilippo syndrome C
    8/14 pathways (see all 14)
    		MPS VI - Maroteaux-Lamy syndrome1.00
    		MPS VII - Sly syndrome1.00
    		MPS IIIC - Sanfilippo syndrome C1.00
    		MPS IIIA - Sanfilippo syndrome A1.00
    		MPS I - Hurler syndrome1.00
    		MPS IIID - Sanfilippo syndrome D1.00
    		Mucopolysaccharidoses1.00
    		MPS IX - Natowicz syndrome1.00
    2Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    3Sphingolipid metabolism
    		Sphingolipid metabolism1.00
    		Glycosphingolipid metabolism0.54
    4Hyaluronan uptake and degradation
    		Hyaluronan uptake and degradation1.00
    		Hyaluronan metabolism0.71
    5Disease
    		Disease1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/25        Reactome Pathways for HEXB (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 HEXB) (see all 7):
        Other glycan degradation
    Amino sugar and nucleotide sugar metabolism
    Glycosaminoglycan degradation
    Glycosphingolipid biosynthesis - globo series
    Glycosphingolipid biosynthesis - ganglio series


    HEXB for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HEXB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    5/24 Interacting proteins for HEXB (P076862, 3 ENSP000002614164) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CSNK2BP678702, 3MINT-8253319 I2D: score=2 
    EIF2DP412143, ENSP000002717644I2D: score=1 STRING: ENSP00000271764
    GYG1P469763I2D: score=3 
    CHI3L1ENSP000002554094STRING: ENSP00000255409
    CHIT1ENSP000002554274STRING: ENSP00000255427
    About this table

    Gene Ontology (GO): 5/36 biological process terms (GO ID links to tree view) (see all 36):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development IEA--
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006044N-acetylglucosamine metabolic process ----
    GO:0006644phospholipid metabolic process TAS--
    GO:0006665sphingolipid metabolic process TAS--


    HEXB for ontologies           About GeneDecksing



    Drugs & Compounds
    for HEXB gene

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

    HEXB for compounds           About GeneDecksing

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

    Compounds for HEXB available from Tocris Bioscience    About this table
    CompoundAction CAS #
    (Z)-PugnacO-GlcNAcase and beta-hexosaminidase inhibitor[132489-69-1]

    10/55 HMDB Compounds for HEXB (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--

    3 DrugBank Compounds for HEXB    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    (2r,3r,4s,5r)-2-Acetamido-3,4-Dihydroxy-5-Hydroxymethyl-Piperidinium-- --target--17139284 17016423
    2-Acetamido-2-Deoxy-D-Glucono-1,5-Lactone-- 19026-22-3target--17139284 17016423
    3ar,5r,6s,7r,7ar-5-Hydroxymethyl-2-Methyl-5,6,7,7a-Tetrahydro-3ah-Pyrano[3,2-D]Thiazole-6,7-Diol-- --target--17139284 17016423

    8 Novoseek chemical compound relationships for HEXB gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ganglioside 79.7 11 16092933 (1), 8634145 (1), 9821868 (1), 19130519 (1) (see all 7)
    g(m2) ganglioside 78.4 1 15198669 (1)
    deae-cellulose 54.9 1 11074069 (1)
    glycolipid 48.2 2 11447134 (1), 8789434 (1)
    mannose 6-phosphate 47.9 1 16092933 (1)
    n-acetylglucosamine 35.9 1 16092933 (1)
    mannose 15.4 1 16092933 (1)
    polyacrylamide 0.995 1 9792408 (1)

    Search CenterWatch for drugs/clinical trials and news about HEXB 

    Transcripts
    for HEXB gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for HEXB gene: 
    NM_000521.3  

    Unigene Cluster for HEXB:

    Hexosaminidase B (beta polypeptide)
    Hs.69293  [show with all ESTs]
    Unigene Representative Sequence: AY643499
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000511181(uc003kdd.3) ENST00000261416(uc003kdf.4) ENST00000513079
    ENST00000515528 ENST00000510820 ENST00000504459 ENST00000513336 ENST00000511621
    ENST00000503312 ENST00000513539(uc003kdg.1 uc010izi.1) ENST00000509579
    ENST00000505859 ENST00000513867

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HEXB
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    SwitchGear 3'UTR luciferase reporter plasmid: HEXB 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HEXB (see all 7)
    OriGene shRNA RFP: HEXB
    OriGene siRNA: HEXB
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HEXB
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HEXB (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HEXB
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    GenScript: all cDNA clones in your preferred vector: HEXB (NM_000521)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HEXB 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HEXB
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HEXB
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HEXB
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HEXB

    Additional cDNA sequence: 

    AF378118.1 AK122992.1 AK130002.1 AK130375.1 AY643499.1 BC017378.2 BT009919.1 D10518.1 
    D10519.1 D10520.1 M13519.1 M19735.1 M34906.1 

    24/35 DOTS entries (see all 35):

    DT.92460298  DT.95173455  DT.317697  DT.100868799  DT.92460289  DT.100690045  DT.100872682  DT.100059733 
    DT.101985570  DT.40115000  DT.100872335  DT.100059726  DT.100841535  DT.86821307  DT.75103411  DT.100690046 
    DT.100774608  DT.120814358  DT.92460302  DT.95173444  DT.95173459  DT.100059731  DT.100798975  DT.120814479 

    24/676 AceView cDNA sequences (see all 676):

    BU077483 BX377945 CA436715 BU506933 BC017378 CR601840 AI280451 BP873297 
    BX334342 CR620268 BM985454 CR609405 BX379252 BU688577 BU684841 BE907813 
    CR613644 BM829823 CR598936 BM767204 BX459064 BP335603 BG571145 CR611028 

    GeneLoc Exon Structure


    Expression
    for HEXB gene

    (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

    HEXB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAAAATAAGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    HEXB expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Neural TubeNeural TubeSpinal Neural Tube CellsNeural Ectoderm
    OvaryOvigerous CordOvarian Somatic CellsOvary
    Spinal CordPresumptive Spinal CordSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

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

    SOURCE GeneReport for Unigene cluster: Hs.69293
        SABiosciences Expression via Pathway-Focused PCR Arrays including HEXB: 
              Glycosylation in human mouse rat
              Multiple Sclerosis in human mouse rat

    Primer
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    Orthologs
    for HEXB gene

    (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 HEXB gene from 9/25 species (see all 25)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Hexb1 , 5 hexosaminidase B1, 5 79.52(n)1
    76.91(a)1    		   13 (50.66 cM)5
    152121  NM_010422.21  NP_034552.11 
     971763325 
    chicken
    (Gallus gallus)    		 Aves HEXB1 hexosaminidase B (beta polypeptide) 69.44(n)
    68.12(a)    		   427204  XM_424791.3  XP_424791.3 
    lizard
    (Anolis carolinensis)    		 Reptilia HEXB6
    		 --
    		 60(a)
    		 1 ↔ 1
    		 2(15151287-15176673)
    African clawed frog
    (Xenopus laevis)    		 Amphibia CB207553.12   -- 73.17(n)    CB207553.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii hexa1 hexosaminidase A (alpha polypeptide) 62.33(n)
    64(a)    		   323613  NM_001114845.1  NP_001108317.1 
    mosquito
    (Anopheles gambiae)    		 Insecta AgaP_AGAP0100561 AGAP010056-PA 49.74(n)
    45.88(a)    		   1279486  XM_319210.4  XP_319210.4 
    worm
    (Caenorhabditis elegans)    		 Secernentea T14F9.33
    hex-11    		 beta-hexosaminidase beta subunit3
    Protein HEX-11    		 44(a)3
    52.55(n)1
    47.37(a)1    		   X(2258788-2261813)3
    1805331  NM_076008.51  NP_508409.11 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons HEXO11 beta-hexosaminidase 1 47.28(n)
    36.45(a)    		   824692  NM_115384.3  NP_567017.2 
    rice
    (Oryza sativa)    		 Liliopsida Os.92852 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.03(n)    AK069009.1 


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

    Paralogs
    for HEXB gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HEXB gene
    HEXA2  
    1 SIMAP similar gene for HEXB using alignment to 6 protein entries:     HEXB_HUMAN (see all proteins):
    HEXA

    HEXB for paralogs           About GeneDecksing



    Genomic Variants
    for HEXB gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/674 NCBI SNPs in HEXB are shown (see all 674)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs115560451,2
    		C,F,A,H,non-pathogenic69190225(+) GGCTAA/GAACCC 2 K R mis1 ese326Minor allele frequency- G:0.21NA NS EA WA CSA EU 8684
    rs1219079841,2
    		Cnon-pathogenic69221897(+) TAGCTA/GCACAA 2 -- ds50010--------
    rs289420731,2
    		C,F,pathogenic69219570(+) TGCGCC/TGGGCA 2 P L mis1 ese32Minor allele frequency- T:0.00NA EU 5873
    rs1219079821,2
    		C,pathogenic69219687(+) TAGCTA/CTGGAC 2 Y S mis10--------
    rs1134650101,2
    		--69184628(+) TCTGAG/AGCCCA 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs623682161,2
    		--69185657(+) TACAGA/GCACCC 1 -- us2k10--------
    rs25936411,2
    		--69185714(+) CACCAA/TTTTGG 1 -- us2k11Minor allele frequency- T:0.00NA 2
    rs25936421,2
    		--69185715(+) ACCAAT/GTTGGC 1 -- us2k11Minor allele frequency- G:0.00NA 2
    rs731171161,2
    		C,--69185922(+) GGACAG/AGGCGG 1 -- us2k12Minor allele frequency- A:0.20WA 120
    rs786611771,2
    		F,--69187385(+) TCTGAC/TCCCAG 1 -- int11Minor allele frequency- T:0.09WA 118

    HapMap Linkage Disequilibrium report for HEXB (73935848 - 74018472 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for HEXB
         1 CNV: 64232
    Human Gene Mutation Database (HGMD): HEXB

    Locus Specific Mutation Databases (LSDB): HEXB

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HEXB
    DNA2.0 Custom Variant and Variant Library Synthesis for HEXB

    Disorders / Diseases
    for HEXB gene

    (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.)
    About This Section
    HEXB for disorders           About GeneDecksing

    OMIM gene information: 606873   
    OMIM disorders: 268800  
    UniProtKB/Swiss-Prot: HEXB_HUMAN, P07686
  • Defects in HEXB are the cause of GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]; also known as Sandhoff
    • disease. GM2-gangliosidosis is an autosomal recessive lysosomal storage disease marked by the accumulation of GM2
    gangliosides in the neuronal cells. GM2G2 is 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

    20/30 diseases for HEXB (see all 30):    About MalaCards
    sandhoff disease    sandhoff disease, infantile, juvenile, and adult forms    gangliosidosis    tay-sachs disease
    cervical cancer    lysosomal storage disease    recurrent respiratory papillomatosis    cervicitis
    type 2 diabetes mellitus    motor neuron disease    autonomic dysfunction    mucopolysaccharidosis
    hairy cell leukemia    neuronitis    diabetes mellitus    neurodegenerative disease
    cholesteatoma    t-cell leukemia    rheumatoid arthritis    neurodegeneration

    1 disease from the University of Copenhagen DISEASES database for HEXB:
    Gangliosidosis

    10/11 Novoseek disease relationships for HEXB gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sandhoff disease 98.3 44 8950198 (3), 2147027 (2), 18758829 (2), 9888387 (2) (see all 34)
    sandhoff disease adult 95.3 2 9562328 (1), 11897243 (1)
    sandhoff disease infantile 94.3 3 1532910 (1), 8076944 (1), 7633435 (1)
    gm2 gangliosidosis 91.6 9 11339652 (3), 8634145 (1), 8950198 (1), 1825792 (1) (see all 7)
    tay-sachs disease 85.5 5 11339652 (1), 12706724 (1), 7602767 (1), 16352452 (1)
    gangliosidosis 84.9 3 9821868 (1), 12673576 (1)
    lysosomal storage diseases 70.2 3 16092933 (1), 8162015 (1), 18772556 (1)
    mucopolysaccharidosis 46.7 2 9821868 (1)
    motor neuron disease 44.7 1 11897243 (1)
    neurodegeneration 33.4 1 11447134 (1)

    Genatlas disease: HEXB
    Sandhoff disease;GM2 gangliosidosis II (HEXA & B deficiency)

    Genetic Association Database (GAD): HEXB
    Human Genome Epidemiology (HuGE) Navigator: HEXB (5 documents)

    Export disorders for HEXB gene to outside databases

    Publications
    for HEXB gene

    (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 HEXB gene, integrated from 9 sources (see all 150):
    (articles sorted by number of sources associating them with HEXB)    		    Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 8950198)1, 2, 4, 9 Redonnet-Vernhet I.... Levade T. (1996)
    2. 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)
    3. Isolation of cDNA clones coding for the beta subunit of human beta- hexosaminidase. (PubMed id 2579389)1, 2, 3 O'Dowd B.F.... Mahuran D.J. (1985)
    4. Molecular basis of heat labile hexosaminidase B among Jews and Arabs. (PubMed id 9401004)1, 2, 9 Narkis G.... Navon R. (1997)
    5. An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds. (PubMed id 1386607)1, 4, 9 McInnes B....Mahuran D.J. (1992)
    6. Translation initiation in the HEXB gene encoding the beta-subunit of human beta-hexosaminidase. (PubMed id 2147427)1, 2, 9 Neote K.... Gravel R.A. (1990)
    7. The X-ray crystal structure of human beta-hexosaminidase B provides new insights into Sandhoff disease. (PubMed id 12706724)1, 2, 9 Maier T....Saenger W. (2003)
    8. A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease. (PubMed id 7633435)1, 2, 9 Zhang Z.-X....Gravel R.A. (1995)
    9. The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis. (PubMed id 1825792)1, 2, 9 Mahuran D.J. (1991)
    10. Complete analysis of the glycosylation and disulfide bond pattern of human beta-hexosaminidase B by MALDI-MS. (PubMed id 11447134)1, 2, 9 Schuette C.G.... Sandhoff K. (2001)

    External Searches for HEXB gene

    (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)

    Genome Databases showing HEXB gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3074 HGNC: 4879 AceView: HEXB Ensembl:ENSG00000049860 euGenes: HUgn3074
    ECgene: HEXB Kegg: 3074 H-InvDB: HEXB

    Other Databases showing HEXB gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing HEXB gene

    (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 HEXB Pharmacogenomics, SNPs, Pathways
    HEXBdbhttp://www.hexdb.mcgill.ca/?Topic=HEXBdb
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HEXB

    Intellectual Property
    for HEXB gene

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

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



    Products
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    About This Section

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