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HEXDC (hexosaminidase D)

Identity

Alias_namescytosolic
Alias_symbol (synonym)FLJ23825
Other alias-
HGNC (Hugo) HEXDC
LocusID (NCBI) 284004
Atlas_Id 54357
Location 17q25.3  [Link to chromosome band 17q25]
Location_base_pair Starts at 82418354 and ends at 82442645 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
FOXK2 (17q25.3) / HEXDC (17q25.3)HEXDC (17q25.3) / C17orf62 (17q25.3)HEXDC (17q25.3) / SLC16A3 (17q25.3)
HEXDC 17q25.3 / C17orf62 17q25.3

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Small Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)HEXDC   26307
Cards
Entrez_Gene (NCBI)HEXDC  284004  hexosaminidase D
Aliases
GeneCards (Weizmann)HEXDC
Ensembl hg19 (Hinxton)ENSG00000169660 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000169660 [Gene_View]  chr17:82418354-82442645 [Contig_View]  HEXDC [Vega]
ICGC DataPortalENSG00000169660
TCGA cBioPortalHEXDC
AceView (NCBI)HEXDC
Genatlas (Paris)HEXDC
WikiGenes284004
SOURCE (Princeton)HEXDC
Genetics Home Reference (NIH)HEXDC
Genomic and cartography
GoldenPath hg38 (UCSC)HEXDC  -     chr17:82418354-82442645 +  17q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HEXDC  -     17q25.3   [Description]    (hg19-Feb_2009)
EnsemblHEXDC - 17q25.3 [CytoView hg19]  HEXDC - 17q25.3 [CytoView hg38]
Mapping of homologs : NCBIHEXDC [Mapview hg19]  HEXDC [Mapview hg38]
OMIM616864   
Gene and transcription
Genbank (Entrez)AK074405 AK295197 AK297272 AK316085 BC018205
RefSeq transcript (Entrez)NM_001330542 NM_173620
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HEXDC
Cluster EST : UnigeneHs.744207 [ NCBI ]
CGAP (NCI)Hs.744207
Alternative Splicing GalleryENSG00000169660
Gene ExpressionHEXDC [ NCBI-GEO ]   HEXDC [ EBI - ARRAY_EXPRESS ]   HEXDC [ SEEK ]   HEXDC [ MEM ]
Gene Expression Viewer (FireBrowse)HEXDC [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)284004
GTEX Portal (Tissue expression)HEXDC
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WVB3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WVB3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WVB3
Splice isoforms : SwissVarQ8WVB3
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 ]   
PhosPhoSitePlusQ8WVB3
Domains : Interpro (EBI)Glyco_hydro_20_cat    Glyco_hydro_catalytic_dom    Glycoside_hydrolase_SF   
Domain families : Pfam (Sanger)Glyco_hydro_20 (PF00728)   
Domain families : Pfam (NCBI)pfam00728   
Conserved Domain (NCBI)HEXDC
DMDM Disease mutations284004
Blocks (Seattle)HEXDC
SuperfamilyQ8WVB3
Human Protein AtlasENSG00000169660
Peptide AtlasQ8WVB3
HPRD08677
IPIIPI00217811   IPI00396511   
Protein Interaction databases
DIP (DOE-UCLA)Q8WVB3
IntAct (EBI)Q8WVB3
FunCoupENSG00000169660
BioGRIDHEXDC
STRING (EMBL)HEXDC
ZODIACHEXDC
Ontologies - Pathways
QuickGOQ8WVB3
Ontology : AmiGObeta-N-acetylhexosaminidase activity  nucleus  cytoplasm  carbohydrate metabolic process  hexosaminidase activity  
Ontology : EGO-EBIbeta-N-acetylhexosaminidase activity  nucleus  cytoplasm  carbohydrate metabolic process  hexosaminidase activity  
Pathways : KEGGOther glycan degradation   
NDEx NetworkHEXDC
Atlas of Cancer Signalling NetworkHEXDC
Wikipedia pathwaysHEXDC
Orthology - Evolution
OrthoDB284004
GeneTree (enSembl)ENSG00000169660
Phylogenetic Trees/Animal Genes : TreeFamHEXDC
HOVERGENQ8WVB3
HOGENOMQ8WVB3
Homologs : HomoloGeneHEXDC
Homology/Alignments : Family Browser (UCSC)HEXDC
Gene fusions - Rearrangements
Fusion : MitelmanFOXK2/HEXDC [17q25.3/17q25.3]  [t(17;17)(q25;q25)]  
Fusion : MitelmanHEXDC/C17orf62 [17q25.3/17q25.3]  [t(17;17)(q25;q25)]  
Fusion: TCGAHEXDC 17q25.3 C17orf62 17q25.3 LGG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHEXDC [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HEXDC
dbVarHEXDC
ClinVarHEXDC
1000_GenomesHEXDC 
Exome Variant ServerHEXDC
ExAC (Exome Aggregation Consortium)HEXDC (select the gene name)
Genetic variants : HAPMAP284004
Genomic Variants (DGV)HEXDC [DGVbeta]
DECIPHERHEXDC [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHEXDC 
Mutations
ICGC Data PortalHEXDC 
TCGA Data PortalHEXDC 
Broad Tumor PortalHEXDC
OASIS PortalHEXDC [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHEXDC  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHEXDC
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 HEXDC
DgiDB (Drug Gene Interaction Database)HEXDC
DoCM (Curated mutations)HEXDC (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HEXDC (select a term)
intoGenHEXDC
Cancer3DHEXDC(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616864   
Orphanet
MedgenHEXDC
Genetic Testing Registry HEXDC
NextProtQ8WVB3 [Medical]
TSGene284004
GENETestsHEXDC
Target ValidationHEXDC
Huge Navigator HEXDC [HugePedia]
snp3D : Map Gene to Disease284004
BioCentury BCIQHEXDC
ClinGenHEXDC
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD284004
Chemical/Pharm GKB GenePA142671693
Clinical trialHEXDC
Miscellaneous
canSAR (ICR)HEXDC (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHEXDC
EVEXHEXDC
GoPubMedHEXDC
iHOPHEXDC
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:36:42 CEST 2017

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