Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HEXB (hexosaminidase B (beta polypeptide))

Identity

Other namesENC-1AS
HEL-248
HGNC (Hugo) HEXB
LocusID (NCBI) 3074
Location 5q13.3
Location_base_pair Starts at 73980969 and ends at 74017113 bp from pter ( according to hg19-Feb_2009)
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

External links

Nomenclature
HGNC (Hugo)HEXB   4879
Cards
Entrez_Gene (NCBI)HEXB  3074  hexosaminidase B (beta polypeptide)
GeneCards (Weizmann)HEXB
Ensembl (Hinxton)ENSG00000049860 [Gene_View]  chr5:73980969-74017113 [Contig_View]  HEXB [Vega]
ICGC DataPortalENSG00000049860
cBioPortalHEXB
AceView (NCBI)HEXB
Genatlas (Paris)HEXB
WikiGenes3074
SOURCE (Princeton)NM_000521 NM_001292004
Genomic and cartography
GoldenPath (UCSC)HEXB  -  5q13.3   chr5:73980969-74017113 +  5q13.3   [Description]    (hg19-Feb_2009)
EnsemblHEXB - 5q13.3 [CytoView]
Mapping of homologs : NCBIHEXB [Mapview]
OMIM268800   606873   
Gene and transcription
Genbank (Entrez)AF378118 AK122992 AK130002 AK130375 AY643499
RefSeq transcript (Entrez)NM_000521 NM_001292004
RefSeq genomic (Entrez)AC_000137 NC_000005 NC_018916 NG_009770 NT_034772 NW_001838951 NW_004929322
Consensus coding sequences : CCDS (NCBI)HEXB
Cluster EST : UnigeneHs.69293 [ NCBI ]
CGAP (NCI)Hs.69293
Alternative Splicing : Fast-db (Paris)GSHG0024035
Alternative Splicing GalleryENSG00000049860
Gene ExpressionHEXB [ NCBI-GEO ]     HEXB [ SEEK ]   HEXB [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP07686 (Uniprot)
NextProtP07686  [Medical]
With graphics : InterProP07686
Splice isoforms : SwissVarP07686 (Swissvar)
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 ]   
Domains : Interpro (EBI)Beta_hexosaminidase_sua/sub [organisation]   Chitobiase/Hex_dom_2-like [organisation]   Glyco_hydro_20_cat-core [organisation]   Glyco_hydro_catalytic_dom [organisation]   Glycoside_hydrolase_SF [organisation]   HEX_eukaryotic_N [organisation]  
Related proteins : CluSTrP07686
Domain families : Pfam (Sanger)Glyco_hydro_20 (PF00728)    Glycohydro_20b2 (PF14845)   
Domain families : Pfam (NCBI)pfam00728    pfam14845   
DMDM Disease mutations3074
Blocks (Seattle)P07686
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   
Human Protein AtlasENSG00000049860 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP07686
HPRD06043
IPIIPI00012585   IPI00967527   IPI00963880   IPI00964416   IPI00964815   IPI00964710   
Protein Interaction databases
DIP (DOE-UCLA)P07686
IntAct (EBI)P07686
FunCoupENSG00000049860
BioGRIDHEXB
InParanoidP07686
Interologous Interaction database P07686
IntegromeDBHEXB
STRING (EMBL)HEXB
Ontologies - Pathways
Ontology : AmiGOskeletal system development  acrosomal vesicle  beta-N-acetylhexosaminidase activity  carbohydrate metabolic process  sphingolipid metabolic process  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  cell death  regulation of cell shape  phospholipid biosynthetic process  oligosaccharide catabolic process  membrane  lipid storage  glycosaminoglycan metabolic process  chondroitin sulfate metabolic process  chondroitin sulfate catabolic process  hyaluronan metabolic process  hyaluronan catabolic process  keratan sulfate metabolic process  keratan sulfate catabolic process  myelination  protein homodimerization activity  lysosomal lumen  astrocyte cell migration  cellular protein metabolic process  small molecule metabolic process  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  oogenesis  neuromuscular process controlling balance  extracellular vesicular exosome  
Ontology : EGO-EBIskeletal system development  acrosomal vesicle  beta-N-acetylhexosaminidase activity  carbohydrate metabolic process  sphingolipid metabolic process  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  cell death  regulation of cell shape  phospholipid biosynthetic process  oligosaccharide catabolic process  membrane  lipid storage  glycosaminoglycan metabolic process  chondroitin sulfate metabolic process  chondroitin sulfate catabolic process  hyaluronan metabolic process  hyaluronan catabolic process  keratan sulfate metabolic process  keratan sulfate catabolic process  myelination  protein homodimerization activity  lysosomal lumen  astrocyte cell migration  cellular protein metabolic process  small molecule metabolic process  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  oogenesis  neuromuscular process controlling balance  extracellular vesicular exosome  
Pathways : KEGGOther glycan degradation    Amino sugar and nucleotide sugar metabolism    Glycosaminoglycan degradation    Glycosphingolipid biosynthesis - globo series    Glycosphingolipid biosynthesis - ganglio series    Lysosome   
Protein Interaction DatabaseHEXB
Wikipedia pathwaysHEXB
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)HEXB
snp3D : Map Gene to Disease3074
SNP (GeneSNP Utah)HEXB
SNP : HGBaseHEXB
Genetic variants : HAPMAPHEXB
Exome VariantHEXB
1000_GenomesHEXB 
ICGC programENSG00000049860 
Somatic Mutations in Cancer : COSMICHEXB 
CONAN: Copy Number AnalysisHEXB 
Mutations and Diseases : HGMDHEXB
Mutations and Diseases : intOGenHEXB
Genomic VariantsHEXB  HEXB [DGVbeta]
dbVarHEXB
ClinVarHEXB
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM268800    606873   
MedgenHEXB
GENETestsHEXB
Disease Genetic AssociationHEXB
Huge Navigator HEXB [HugePedia]  HEXB [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneHEXB
Homology/Alignments : Family Browser (UCSC)HEXB
Phylogenetic Trees/Animal Genes : TreeFamHEXB
Chemical/Protein Interactions : CTD3074
Chemical/Pharm GKB GenePA29257
Clinical trialHEXB
Cancer Resource (Charite)ENSG00000049860
Other databases
Probes
Litterature
PubMed89 Pubmed reference(s) in Entrez
CoreMineHEXB
iHOPHEXB
OncoSearchHEXB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 16:49:20 CEST 2014

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