Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HAO2 (hydroxyacid oxidase 2)

Identity

Alias_nameshydroxyacid oxidase 2 (long chain)
Alias_symbol (synonym)HAOX2
GIG16
Other alias
HGNC (Hugo) HAO2
LocusID (NCBI) 51179
Atlas_Id 54351
Location 1p12  [Link to chromosome band 1p12]
Location_base_pair Starts at 119368776 and ends at 119394130 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
HAO2 (1p12) / HAO2 (1p12)RECQL (12p12.1) / HAO2 (1p12)VANGL1 (1p13.1) / HAO2 (1p12)

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 Adenocarcinoma


External links

Nomenclature
HGNC (Hugo)HAO2   4810
Cards
Entrez_Gene (NCBI)HAO2  51179  hydroxyacid oxidase 2
AliasesGIG16; HAOX2
GeneCards (Weizmann)HAO2
Ensembl hg19 (Hinxton)ENSG00000116882 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000116882 [Gene_View]  chr1:119368776-119394130 [Contig_View]  HAO2 [Vega]
ICGC DataPortalENSG00000116882
TCGA cBioPortalHAO2
AceView (NCBI)HAO2
Genatlas (Paris)HAO2
WikiGenes51179
SOURCE (Princeton)HAO2
Genetics Home Reference (NIH)HAO2
Genomic and cartography
GoldenPath hg38 (UCSC)HAO2  -     chr1:119368776-119394130 +  1p12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HAO2  -     1p12   [Description]    (hg19-Feb_2009)
EnsemblHAO2 - 1p12 [CytoView hg19]  HAO2 - 1p12 [CytoView hg38]
Mapping of homologs : NCBIHAO2 [Mapview hg19]  HAO2 [Mapview hg38]
OMIM605176   
Gene and transcription
Genbank (Entrez)AA919149 AF203975 AF231917 AK298289 AY513277
RefSeq transcript (Entrez)NM_001005783 NM_016527
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HAO2
Cluster EST : UnigeneHs.659767 [ NCBI ]
CGAP (NCI)Hs.659767
Alternative Splicing GalleryENSG00000116882
Gene ExpressionHAO2 [ NCBI-GEO ]   HAO2 [ EBI - ARRAY_EXPRESS ]   HAO2 [ SEEK ]   HAO2 [ MEM ]
Gene Expression Viewer (FireBrowse)HAO2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51179
GTEX Portal (Tissue expression)HAO2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NYQ3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NYQ3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NYQ3
Splice isoforms : SwissVarQ9NYQ3
Catalytic activity : Enzyme1.1.3.15 [ Enzyme-Expasy ]   1.1.3.151.1.3.15 [ IntEnz-EBI ]   1.1.3.15 [ BRENDA ]   1.1.3.15 [ KEGG ]   
PhosPhoSitePlusQ9NYQ3
Domaine pattern : Prosite (Expaxy)FMN_HYDROXY_ACID_DH_1 (PS00557)    FMN_HYDROXY_ACID_DH_2 (PS51349)   
Domains : Interpro (EBI)Aldolase_TIM    Alpha-hydoxy_acid_DH_FMN    FMN-dep_DH    FMN_hydac_DH_AS   
Domain families : Pfam (Sanger)FMN_dh (PF01070)   
Domain families : Pfam (NCBI)pfam01070   
Conserved Domain (NCBI)HAO2
DMDM Disease mutations51179
Blocks (Seattle)HAO2
SuperfamilyQ9NYQ3
Human Protein AtlasENSG00000116882
Peptide AtlasQ9NYQ3
HPRD05532
IPIIPI00021109   IPI00641158   IPI00514704   
Protein Interaction databases
DIP (DOE-UCLA)Q9NYQ3
IntAct (EBI)Q9NYQ3
FunCoupENSG00000116882
BioGRIDHAO2
STRING (EMBL)HAO2
ZODIACHAO2
Ontologies - Pathways
QuickGOQ9NYQ3
Ontology : AmiGO(S)-2-hydroxy-acid oxidase activity  receptor binding  mitochondrion  peroxisome  peroxisomal matrix  FMN binding  fatty acid oxidation  cellular lipid metabolic process  very-long-chain-(S)-2-hydroxy-acid oxidase activity  long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity  long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity  medium-chain-(S)-2-hydroxy-acid oxidase activity  extracellular exosome  
Ontology : EGO-EBI(S)-2-hydroxy-acid oxidase activity  receptor binding  mitochondrion  peroxisome  peroxisomal matrix  FMN binding  fatty acid oxidation  cellular lipid metabolic process  very-long-chain-(S)-2-hydroxy-acid oxidase activity  long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity  long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity  medium-chain-(S)-2-hydroxy-acid oxidase activity  extracellular exosome  
Pathways : KEGGGlyoxylate and dicarboxylate metabolism    Peroxisome   
NDEx NetworkHAO2
Atlas of Cancer Signalling NetworkHAO2
Wikipedia pathwaysHAO2
Orthology - Evolution
OrthoDB51179
GeneTree (enSembl)ENSG00000116882
Phylogenetic Trees/Animal Genes : TreeFamHAO2
HOVERGENQ9NYQ3
HOGENOMQ9NYQ3
Homologs : HomoloGeneHAO2
Homology/Alignments : Family Browser (UCSC)HAO2
Gene fusions - Rearrangements
Fusion : MitelmanVANGL1/HAO2 [1p13.1/1p12]  [t(1;1)(p12;p13)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHAO2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HAO2
dbVarHAO2
ClinVarHAO2
1000_GenomesHAO2 
Exome Variant ServerHAO2
ExAC (Exome Aggregation Consortium)HAO2 (select the gene name)
Genetic variants : HAPMAP51179
Genomic Variants (DGV)HAO2 [DGVbeta]
DECIPHERHAO2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHAO2 
Mutations
ICGC Data PortalHAO2 
TCGA Data PortalHAO2 
Broad Tumor PortalHAO2
OASIS PortalHAO2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHAO2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHAO2
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
LOVD (Leiden Open Variation Database)The Globin Gene Server
BioMutasearch HAO2
DgiDB (Drug Gene Interaction Database)HAO2
DoCM (Curated mutations)HAO2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HAO2 (select a term)
intoGenHAO2
Cancer3DHAO2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605176   
Orphanet
MedgenHAO2
Genetic Testing Registry HAO2
NextProtQ9NYQ3 [Medical]
TSGene51179
GENETestsHAO2
Target ValidationHAO2
Huge Navigator HAO2 [HugePedia]
snp3D : Map Gene to Disease51179
BioCentury BCIQHAO2
ClinGenHAO2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51179
Chemical/Pharm GKB GenePA29186
Clinical trialHAO2
Miscellaneous
canSAR (ICR)HAO2 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHAO2
EVEXHAO2
GoPubMedHAO2
iHOPHAO2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Aug 1 17:02:43 CEST 2017

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