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HEXA (hexosaminidase subunit alpha)

Identity

Alias_nameshexosaminidase A (alpha polypeptide)
HGNC (Hugo) HEXA
LocusID (NCBI) 3073
Atlas_Id 51074
Location 15q23  [Link to chromosome band 15q23]
Location_base_pair Starts at 72635776 and ends at 72668814 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
MYO9A (15q23) / HEXA (15q23)MYO9A 15q23 / HEXA 15q23

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 subunit alpha
AliasesTSD
GeneCards (Weizmann)HEXA
Ensembl hg19 (Hinxton)ENSG00000213614 [Gene_View]  chr15:72635776-72668814 [Contig_View]  HEXA [Vega]
Ensembl hg38 (Hinxton)ENSG00000213614 [Gene_View]  chr15:72635776-72668814 [Contig_View]  HEXA [Vega]
ICGC DataPortalENSG00000213614
TCGA cBioPortalHEXA
AceView (NCBI)HEXA
Genatlas (Paris)HEXA
WikiGenes3073
SOURCE (Princeton)HEXA
Genetics Home Reference (NIH)HEXA
Genomic and cartography
GoldenPath hg19 (UCSC)HEXA  -     chr15:72635776-72668814 -  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 NM_001318825
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 GalleryENSG00000213614
Gene ExpressionHEXA [ NCBI-GEO ]   HEXA [ EBI - ARRAY_EXPRESS ]   HEXA [ SEEK ]   HEXA [ MEM ]
Gene Expression Viewer (FireBrowse)HEXA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3073
GTEX Portal (Tissue expression)HEXA
Protein : pattern, domain, 3D structure
UniProt/SwissProtP06865   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP06865  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP06865
Splice isoforms : SwissVarP06865
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 ]   
PhosPhoSitePlusP06865
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)HEXA
DMDM Disease mutations3073
Blocks (Seattle)HEXA
PDB (SRS)1QBC    2GJX    2GK1   
PDB (PDBSum)1QBC    2GJX    2GK1   
PDB (IMB)1QBC    2GJX    2GK1   
PDB (RSDB)1QBC    2GJX    2GK1   
Structural Biology KnowledgeBase1QBC    2GJX    2GK1   
SCOP (Structural Classification of Proteins)1QBC    2GJX    2GK1   
CATH (Classification of proteins structures)1QBC    2GJX    2GK1   
SuperfamilyP06865
Human Protein AtlasENSG00000213614
Peptide AtlasP06865
HPRD06040
IPIIPI01013566   IPI00910542   IPI00027851   IPI00909914   IPI00930137   IPI00746701   
Protein Interaction databases
DIP (DOE-UCLA)P06865
IntAct (EBI)P06865
FunCoupENSG00000213614
BioGRIDHEXA
STRING (EMBL)HEXA
ZODIACHEXA
Ontologies - Pathways
QuickGOP06865
Ontology : AmiGObeta-N-acetylhexosaminidase activity  carbohydrate metabolic process  glycosaminoglycan biosynthetic process  glycosphingolipid metabolic process  acetylglucosaminyltransferase activity  membrane  chondroitin sulfate catabolic process  hyaluronan catabolic process  keratan sulfate catabolic process  azurophil granule  lysosomal lumen  protein heterodimerization activity  extracellular exosome  
Ontology : EGO-EBIbeta-N-acetylhexosaminidase activity  carbohydrate metabolic process  glycosaminoglycan biosynthetic process  glycosphingolipid metabolic process  acetylglucosaminyltransferase activity  membrane  chondroitin sulfate catabolic process  hyaluronan catabolic process  keratan sulfate catabolic process  azurophil granule  lysosomal lumen  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   
NDEx NetworkHEXA
Atlas of Cancer Signalling NetworkHEXA
Wikipedia pathwaysHEXA
Orthology - Evolution
OrthoDB3073
GeneTree (enSembl)ENSG00000213614
Phylogenetic Trees/Animal Genes : TreeFamHEXA
HOVERGENP06865
HOGENOMP06865
Homologs : HomoloGeneHEXA
Homology/Alignments : Family Browser (UCSC)HEXA
Gene fusions - Rearrangements
Fusion: TCGAMYO9A 15q23 HEXA 15q23 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHEXA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HEXA
dbVarHEXA
ClinVarHEXA
1000_GenomesHEXA 
Exome Variant ServerHEXA
ExAC (Exome Aggregation Consortium)HEXA (select the gene name)
Genetic variants : HAPMAP3073
Genomic Variants (DGV)HEXA [DGVbeta]
DECIPHER (Syndromes)15:72635776-72668814  ENSG00000213614
CONAN: Copy Number AnalysisHEXA 
Mutations
ICGC Data PortalHEXA 
TCGA Data PortalHEXA 
Broad Tumor PortalHEXA
OASIS PortalHEXA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHEXA  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHEXA
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 HEXA
DgiDB (Drug Gene Interaction Database)HEXA
DoCM (Curated mutations)HEXA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HEXA (select a term)
intoGenHEXA
Cancer3DHEXA(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM272800    606869   
Orphanet21357    21356    21359    21358   
MedgenHEXA
Genetic Testing Registry HEXA
NextProtP06865 [Medical]
TSGene3073
GENETestsHEXA
Huge Navigator HEXA [HugePedia]
snp3D : Map Gene to Disease3073
BioCentury BCIQHEXA
ClinGenHEXA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3073
Chemical/Pharm GKB GenePA29256
Clinical trialHEXA
Miscellaneous
canSAR (ICR)HEXA (select the gene name)
Probes
Litterature
PubMed122 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHEXA
EVEXHEXA
GoPubMedHEXA
iHOPHEXA
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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