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HGD (homogentisate 1,2-dioxygenase)

Identity

Alias_namesAKU
homogentisate 1,2-dioxygenase (homogentisate oxidase)
Alias_symbol (synonym)HGO
Other alias
HGNC (Hugo) HGD
LocusID (NCBI) 3081
Atlas_Id 64252
Location 3q13.33  [Link to chromosome band 3q13]
Location_base_pair Starts at 120347015 and ends at 120401418 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
NFS1 (20q11.22) / HGD (3q13.33)

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)HGD   4892
Cards
Entrez_Gene (NCBI)HGD  3081  homogentisate 1,2-dioxygenase
AliasesAKU; HGO
GeneCards (Weizmann)HGD
Ensembl hg19 (Hinxton)ENSG00000113924 [Gene_View]  chr3:120347015-120401418 [Contig_View]  HGD [Vega]
Ensembl hg38 (Hinxton)ENSG00000113924 [Gene_View]  chr3:120347015-120401418 [Contig_View]  HGD [Vega]
ICGC DataPortalENSG00000113924
TCGA cBioPortalHGD
AceView (NCBI)HGD
Genatlas (Paris)HGD
WikiGenes3081
SOURCE (Princeton)HGD
Genetics Home Reference (NIH)HGD
Genomic and cartography
GoldenPath hg19 (UCSC)HGD  -     chr3:120347015-120401418 -  3q13.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HGD  -     3q13.33   [Description]    (hg38-Dec_2013)
EnsemblHGD - 3q13.33 [CytoView hg19]  HGD - 3q13.33 [CytoView hg38]
Mapping of homologs : NCBIHGD [Mapview hg19]  HGD [Mapview hg38]
OMIM607474   
Gene and transcription
Genbank (Entrez)AA861603 AF045167 AK124291 AK290782 AK313563
RefSeq transcript (Entrez)NM_000187
RefSeq genomic (Entrez)NC_000003 NC_018914 NG_011957 NT_005612 NW_004929311
Consensus coding sequences : CCDS (NCBI)HGD
Cluster EST : UnigeneHs.368254 [ NCBI ]
CGAP (NCI)Hs.368254
Alternative Splicing GalleryENSG00000113924
Gene ExpressionHGD [ NCBI-GEO ]   HGD [ EBI - ARRAY_EXPRESS ]   HGD [ SEEK ]   HGD [ MEM ]
Gene Expression Viewer (FireBrowse)HGD [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3081
GTEX Portal (Tissue expression)HGD
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ93099   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ93099  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ93099
Splice isoforms : SwissVarQ93099
Catalytic activity : Enzyme1.13.11.5 [ Enzyme-Expasy ]   1.13.11.51.13.11.5 [ IntEnz-EBI ]   1.13.11.5 [ BRENDA ]   1.13.11.5 [ KEGG ]   
PhosPhoSitePlusQ93099
Domains : Interpro (EBI)Homogentis_dOase    RmlC-like_jellyroll    RmlC_Cupin   
Domain families : Pfam (Sanger)HgmA (PF04209)   
Domain families : Pfam (NCBI)pfam04209   
Conserved Domain (NCBI)HGD
DMDM Disease mutations3081
Blocks (Seattle)HGD
PDB (SRS)1EY2    1EYB   
PDB (PDBSum)1EY2    1EYB   
PDB (IMB)1EY2    1EYB   
PDB (RSDB)1EY2    1EYB   
Structural Biology KnowledgeBase1EY2    1EYB   
SCOP (Structural Classification of Proteins)1EY2    1EYB   
CATH (Classification of proteins structures)1EY2    1EYB   
SuperfamilyQ93099
Human Protein AtlasENSG00000113924
Peptide AtlasQ93099
HPRD06315
IPIIPI00303174   IPI00640411   IPI00794948   IPI00794675   IPI00947350   IPI00947534   
Protein Interaction databases
DIP (DOE-UCLA)Q93099
IntAct (EBI)Q93099
FunCoupENSG00000113924
BioGRIDHGD
STRING (EMBL)HGD
ZODIACHGD
Ontologies - Pathways
QuickGOQ93099
Ontology : AmiGOhomogentisate 1,2-dioxygenase activity  cytosol  L-phenylalanine catabolic process  L-phenylalanine catabolic process  tyrosine catabolic process  cellular nitrogen compound metabolic process  small molecule metabolic process  metal ion binding  oxidation-reduction process  extracellular exosome  
Ontology : EGO-EBIhomogentisate 1,2-dioxygenase activity  cytosol  L-phenylalanine catabolic process  L-phenylalanine catabolic process  tyrosine catabolic process  cellular nitrogen compound metabolic process  small molecule metabolic process  metal ion binding  oxidation-reduction process  extracellular exosome  
Pathways : KEGGTyrosine metabolism   
NDEx NetworkHGD
Atlas of Cancer Signalling NetworkHGD
Wikipedia pathwaysHGD
Orthology - Evolution
OrthoDB3081
GeneTree (enSembl)ENSG00000113924
Phylogenetic Trees/Animal Genes : TreeFamHGD
HOVERGENQ93099
HOGENOMQ93099
Homologs : HomoloGeneHGD
Homology/Alignments : Family Browser (UCSC)HGD
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHGD [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HGD
dbVarHGD
ClinVarHGD
1000_GenomesHGD 
Exome Variant ServerHGD
ExAC (Exome Aggregation Consortium)HGD (select the gene name)
Genetic variants : HAPMAP3081
Genomic Variants (DGV)HGD [DGVbeta]
DECIPHER (Syndromes)3:120347015-120401418  ENSG00000113924
CONAN: Copy Number AnalysisHGD 
Mutations
ICGC Data PortalHGD 
TCGA Data PortalHGD 
Broad Tumor PortalHGD
OASIS PortalHGD [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHGD  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHGD
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 HGD
DgiDB (Drug Gene Interaction Database)HGD
DoCM (Curated mutations)HGD (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HGD (select a term)
intoGenHGD
Cancer3DHGD(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607474   
Orphanet411   
MedgenHGD
Genetic Testing Registry HGD
NextProtQ93099 [Medical]
TSGene3081
GENETestsHGD
Huge Navigator HGD [HugePedia]
snp3D : Map Gene to Disease3081
BioCentury BCIQHGD
ClinGenHGD
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3081
Chemical/Pharm GKB GenePA29268
Clinical trialHGD
Miscellaneous
canSAR (ICR)HGD (select the gene name)
Probes
Litterature
PubMed39 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHGD
EVEXHGD
GoPubMedHGD
iHOPHGD
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:07:40 CET 2017

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