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HEXA (hexosaminidase A (alpha polypeptide))

Identity

Other namesTSD
HGNC (Hugo) HEXA
LocusID (NCBI) 3073
Atlas_Id 51074
Location 15q23
Location_base_pair Starts at 72635778 and ends at 72668520 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

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)HEXA   4878
Cards
Entrez_Gene (NCBI)HEXA  3073  hexosaminidase A (alpha polypeptide)
GeneCards (Weizmann)HEXA
Ensembl hg19 (Hinxton) [Gene_View]  chr15:72635778-72668520 [Contig_View]  HEXA [Vega]
Ensembl hg38 (Hinxton) [Gene_View]  chr15:72635778-72668520 [Contig_View]  HEXA [Vega]
TCGA cBioPortalHEXA
AceView (NCBI)HEXA
Genatlas (Paris)HEXA
WikiGenes3073
SOURCE (Princeton)HEXA
Genomic and cartography
GoldenPath hg19 (UCSC)HEXA  -     chr15:72635778-72668520 -  15q23   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HEXA  -     15q23   [Description]    (hg38-Dec_2013)
EnsemblHEXA - 15q23 [CytoView hg19]  HEXA - 15q23 [CytoView hg38]
Mapping of homologs : NCBIHEXA [Mapview hg19]  HEXA [Mapview hg38]
OMIM272800   606869   
Gene and transcription
Genbank (Entrez)AK222502 AK296528 AK297678 AK301000 AK301138
RefSeq transcript (Entrez)NM_000520
RefSeq genomic (Entrez)NC_000015 NC_018926 NG_009017 NT_010194 NW_004929398
Consensus coding sequences : CCDS (NCBI)HEXA
Cluster EST : UnigeneHs.709495 [ NCBI ]
CGAP (NCI)Hs.709495
Alternative Splicing : Fast-db (Paris)GSHG0010564
Gene ExpressionHEXA [ NCBI-GEO ]     HEXA [ SEEK ]   HEXA [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP06865 (Uniprot)
NextProtP06865  [Medical]
With graphics : InterProP06865
Splice isoforms : SwissVarP06865 (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    Chitobiase/Hex_dom_2-like    Glyco_hydro_20_cat-core    Glyco_hydro_catalytic_dom    Glycoside_hydrolase_SF    HEX_eukaryotic_N   
Related proteins : CluSTrP06865
Domain families : Pfam (Sanger)Glyco_hydro_20 (PF00728)    Glycohydro_20b2 (PF14845)   
Domain families : Pfam (NCBI)pfam00728    pfam14845   
DMDM Disease mutations3073
Blocks (Seattle)P06865
PDB (SRS)1QBC    2GJX    2GK1   
PDB (PDBSum)1QBC    2GJX    2GK1   
PDB (IMB)1QBC    2GJX    2GK1   
PDB (RSDB)1QBC    2GJX    2GK1   
Peptide AtlasP06865
HPRD06040
IPIIPI01013566   IPI00910542   IPI00027851   IPI00909914   IPI00930137   IPI00746701   
Protein Interaction databases
DIP (DOE-UCLA)P06865
IntAct (EBI)P06865
BioGRIDHEXA
IntegromeDBHEXA
STRING (EMBL)HEXA
Ontologies - Pathways
QuickGOP06865
Ontology : AmiGObeta-N-acetylhexosaminidase activity  carbohydrate metabolic process  sphingolipid metabolic process  glycosphingolipid metabolic process  pathogenesis  membrane  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  lysosomal lumen  small molecule metabolic process  protein heterodimerization activity  extracellular exosome  
Ontology : EGO-EBIbeta-N-acetylhexosaminidase activity  carbohydrate metabolic process  sphingolipid metabolic process  glycosphingolipid metabolic process  pathogenesis  membrane  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  lysosomal lumen  small molecule metabolic process  protein heterodimerization activity  extracellular exosome  
Pathways : KEGGOther glycan degradation    Amino sugar and nucleotide sugar metabolism    Glycosaminoglycan degradation    Glycosphingolipid biosynthesis - globo series    Glycosphingolipid biosynthesis - ganglio series    Lysosome   
Protein Interaction DatabaseHEXA
DoCM (Curated mutations)HEXA
Wikipedia pathwaysHEXA
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerHEXA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HEXA
dbVarHEXA
ClinVarHEXA
1000_GenomesHEXA 
Exome Variant ServerHEXA
SNP (GeneSNP Utah)HEXA
SNP : HGBaseHEXA
Genetic variants : HAPMAPHEXA
Genomic Variants (DGV)HEXA [DGVbeta]
Mutations
ICGC Data PortalHEXA 
TCGA Data PortalHEXA 
Tumor PortalHEXA
Somatic Mutations in Cancer : COSMICHEXA 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)15:72635778-72668520
CONAN: Copy Number AnalysisHEXA 
Mutations and Diseases : HGMDHEXA
OMIM272800    606869   
MedgenHEXA
NextProtP06865 [Medical]
GENETestsHEXA
Disease Genetic AssociationHEXA
Huge Navigator HEXA [HugePedia]  HEXA [HugeCancerGEM]
snp3D : Map Gene to Disease3073
DGIdb (Drug Gene Interaction db)HEXA
General knowledge
Homologs : HomoloGeneHEXA
Homology/Alignments : Family Browser (UCSC)HEXA
Phylogenetic Trees/Animal Genes : TreeFamHEXA
Chemical/Protein Interactions : CTD3073
Chemical/Pharm GKB GenePA29256
Clinical trialHEXA
Other databases
Probes
Litterature
PubMed113 Pubmed reference(s) in Entrez
CoreMineHEXA
GoPubMedHEXA
iHOPHEXA
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
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Apr 13 14:32:20 CEST 2015

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