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HEXB (hexosaminidase subunit beta)

Identity

Alias_nameshexosaminidase B (beta polypeptide)
HGNC (Hugo) HEXB
LocusID (NCBI) 3074
Atlas_Id 51273
Location 5q13.3  [Link to chromosome band 5q13]
Location_base_pair Starts at 73980969 and ends at 74017113 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
HEXB (5q13.3) / SSRP1 (11q12.1)NSA2 (5q13.3) / HEXB (5q13.3)TRIM36 (5q22.3) / HEXB (5q13.3)
NSA2 5q13.3 / HEXB 5q13.3TRIM36 5q22.3 / HEXB 5q13.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)HEXB   4879
Cards
Entrez_Gene (NCBI)HEXB  3074  hexosaminidase subunit beta
AliasesENC-1AS; HEL-248; HEL-S-111
GeneCards (Weizmann)HEXB
Ensembl hg19 (Hinxton)ENSG00000049860 [Gene_View]  chr5:73980969-74017113 [Contig_View]  HEXB [Vega]
Ensembl hg38 (Hinxton)ENSG00000049860 [Gene_View]  chr5:73980969-74017113 [Contig_View]  HEXB [Vega]
ICGC DataPortalENSG00000049860
TCGA cBioPortalHEXB
AceView (NCBI)HEXB
Genatlas (Paris)HEXB
WikiGenes3074
SOURCE (Princeton)HEXB
Genetics Home Reference (NIH)HEXB
Genomic and cartography
GoldenPath hg19 (UCSC)HEXB  -     chr5:73980969-74017113 +  5q13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HEXB  -     5q13.3   [Description]    (hg38-Dec_2013)
EnsemblHEXB - 5q13.3 [CytoView hg19]  HEXB - 5q13.3 [CytoView hg38]
Mapping of homologs : NCBIHEXB [Mapview hg19]  HEXB [Mapview hg38]
OMIM268800   606873   
Gene and transcription
Genbank (Entrez)AF378118 AK122992 AK130002 AK130375 AY643499
RefSeq transcript (Entrez)NM_000521 NM_001292004
RefSeq genomic (Entrez)NC_000005 NC_018916 NG_009770 NT_034772 NW_004929322
Consensus coding sequences : CCDS (NCBI)HEXB
Cluster EST : UnigeneHs.69293 [ NCBI ]
CGAP (NCI)Hs.69293
Alternative Splicing GalleryENSG00000049860
Gene ExpressionHEXB [ NCBI-GEO ]   HEXB [ EBI - ARRAY_EXPRESS ]   HEXB [ SEEK ]   HEXB [ MEM ]
Gene Expression Viewer (FireBrowse)HEXB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3074
GTEX Portal (Tissue expression)HEXB
Protein : pattern, domain, 3D structure
UniProt/SwissProtP07686   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP07686  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP07686
Splice isoforms : SwissVarP07686
Catalytic activity : Enzyme3.2.1.52 [ Enzyme-Expasy ]   3.2.1.523.2.1.52 [ IntEnz-EBI ]   3.2.1.52 [ BRENDA ]   3.2.1.52 [ KEGG ]   
PhosPhoSitePlusP07686
Domains : Interpro (EBI)Beta_hexosaminidase_sua/sub    Chitobiase/Hex_dom_2-like    Glyco_hydro_20_cat    Glyco_hydro_catalytic_dom    Glycoside_hydrolase_SF    HEX_eukaryotic_N   
Domain families : Pfam (Sanger)Glyco_hydro_20 (PF00728)    Glycohydro_20b2 (PF14845)   
Domain families : Pfam (NCBI)pfam00728    pfam14845   
Conserved Domain (NCBI)HEXB
DMDM Disease mutations3074
Blocks (Seattle)HEXB
PDB (SRS)1NOU    1NOW    1NP0    1O7A    1QBD    2GJX    2GK1    3LMY   
PDB (PDBSum)1NOU    1NOW    1NP0    1O7A    1QBD    2GJX    2GK1    3LMY   
PDB (IMB)1NOU    1NOW    1NP0    1O7A    1QBD    2GJX    2GK1    3LMY   
PDB (RSDB)1NOU    1NOW    1NP0    1O7A    1QBD    2GJX    2GK1    3LMY   
Structural Biology KnowledgeBase1NOU    1NOW    1NP0    1O7A    1QBD    2GJX    2GK1    3LMY   
SCOP (Structural Classification of Proteins)1NOU    1NOW    1NP0    1O7A    1QBD    2GJX    2GK1    3LMY   
CATH (Classification of proteins structures)1NOU    1NOW    1NP0    1O7A    1QBD    2GJX    2GK1    3LMY   
SuperfamilyP07686
Human Protein AtlasENSG00000049860
Peptide AtlasP07686
HPRD06043
IPIIPI00012585   IPI00967527   IPI00963880   IPI00964416   IPI00964815   IPI00964710   
Protein Interaction databases
DIP (DOE-UCLA)P07686
IntAct (EBI)P07686
FunCoupENSG00000049860
BioGRIDHEXB
STRING (EMBL)HEXB
ZODIACHEXB
Ontologies - Pathways
QuickGOP07686
Ontology : AmiGOskeletal system development  acrosomal vesicle  beta-N-acetylhexosaminidase activity  glycosphingolipid metabolic process  ganglioside catabolic process  cellular calcium ion homeostasis  lysosome organization  penetration of zona pellucida  sensory perception of sound  locomotory behavior  male courtship behavior  regulation of cell shape  acetylglucosaminyltransferase activity  phospholipid biosynthetic process  oligosaccharide catabolic process  membrane  lipid storage  chondroitin sulfate catabolic process  hyaluronan catabolic process  keratan sulfate catabolic process  myelination  azurophil granule  protein homodimerization activity  lysosomal lumen  astrocyte cell migration  cellular protein metabolic process  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  oogenesis  neuromuscular process controlling balance  extracellular exosome  
Ontology : EGO-EBIskeletal system development  acrosomal vesicle  beta-N-acetylhexosaminidase activity  glycosphingolipid metabolic process  ganglioside catabolic process  cellular calcium ion homeostasis  lysosome organization  penetration of zona pellucida  sensory perception of sound  locomotory behavior  male courtship behavior  regulation of cell shape  acetylglucosaminyltransferase activity  phospholipid biosynthetic process  oligosaccharide catabolic process  membrane  lipid storage  chondroitin sulfate catabolic process  hyaluronan catabolic process  keratan sulfate catabolic process  myelination  azurophil granule  protein homodimerization activity  lysosomal lumen  astrocyte cell migration  cellular protein metabolic process  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  oogenesis  neuromuscular process controlling balance  extracellular exosome  
Pathways : KEGGOther glycan degradation    Amino sugar and nucleotide sugar metabolism    Glycosaminoglycan degradation    Glycosphingolipid biosynthesis - globo series    Glycosphingolipid biosynthesis - ganglio series    Lysosome   
NDEx NetworkHEXB
Atlas of Cancer Signalling NetworkHEXB
Wikipedia pathwaysHEXB
Orthology - Evolution
OrthoDB3074
GeneTree (enSembl)ENSG00000049860
Phylogenetic Trees/Animal Genes : TreeFamHEXB
HOVERGENP07686
HOGENOMP07686
Homologs : HomoloGeneHEXB
Homology/Alignments : Family Browser (UCSC)HEXB
Gene fusions - Rearrangements
Fusion : MitelmanNSA2/HEXB [5q13.3/5q13.3]  [t(5;5)(q13;q13)]  
Fusion : MitelmanTRIM36/HEXB [5q22.3/5q13.3]  [t(5;5)(q13;q22)]  
Fusion: TCGANSA2 5q13.3 HEXB 5q13.3 BRCA
Fusion: TCGATRIM36 5q22.3 HEXB 5q13.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHEXB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HEXB
dbVarHEXB
ClinVarHEXB
1000_GenomesHEXB 
Exome Variant ServerHEXB
ExAC (Exome Aggregation Consortium)HEXB (select the gene name)
Genetic variants : HAPMAP3074
Genomic Variants (DGV)HEXB [DGVbeta]
DECIPHER (Syndromes)5:73980969-74017113  ENSG00000049860
CONAN: Copy Number AnalysisHEXB 
Mutations
ICGC Data PortalHEXB 
TCGA Data PortalHEXB 
Broad Tumor PortalHEXB
OASIS PortalHEXB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHEXB  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHEXB
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch HEXB
DgiDB (Drug Gene Interaction Database)HEXB
DoCM (Curated mutations)HEXB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HEXB (select a term)
intoGenHEXB
Cancer3DHEXB(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM268800    606873   
Orphanet21353    21355    21354   
MedgenHEXB
Genetic Testing Registry HEXB
NextProtP07686 [Medical]
TSGene3074
GENETestsHEXB
Huge Navigator HEXB [HugePedia]
snp3D : Map Gene to Disease3074
BioCentury BCIQHEXB
ClinGenHEXB
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3074
Chemical/Pharm GKB GenePA29257
Clinical trialHEXB
Miscellaneous
canSAR (ICR)HEXB (select the gene name)
Probes
Litterature
PubMed97 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHEXB
EVEXHEXB
GoPubMedHEXB
iHOPHEXB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:39:15 CET 2016

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