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ALDH1A2 (aldehyde dehydrogenase 1 family member A2)

Identity

Alias_namesaldehyde dehydrogenase 1 family
Alias_symbol (synonym)RALDH2
Other aliasRALDH(II)
RALDH2-T
HGNC (Hugo) ALDH1A2
LocusID (NCBI) 8854
Atlas_Id 53100
Location 15q21.3  [Link to chromosome band 15q21]
Location_base_pair Starts at 57953424 and ends at 58065923 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ALDH1A2 (15q21.3) / IGFBP5 (2q35)ICE2 (15q22.2) / ALDH1A2 (15q21.3)PNPO (17q21.32) / ALDH1A2 (15q21.3)
THSD4 (15q23) / ALDH1A2 (15q21.3)THSD4 15q23 / ALDH1A2 15q21.3

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

 


External links

Nomenclature
HGNC (Hugo)ALDH1A2   15472
Cards
Entrez_Gene (NCBI)ALDH1A2  8854  aldehyde dehydrogenase 1 family member A2
AliasesRALDH(II); RALDH2; RALDH2-T
GeneCards (Weizmann)ALDH1A2
Ensembl hg19 (Hinxton)ENSG00000128918 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000128918 [Gene_View]  chr15:57953424-58065923 [Contig_View]  ALDH1A2 [Vega]
ICGC DataPortalENSG00000128918
TCGA cBioPortalALDH1A2
AceView (NCBI)ALDH1A2
Genatlas (Paris)ALDH1A2
WikiGenes8854
SOURCE (Princeton)ALDH1A2
Genetics Home Reference (NIH)ALDH1A2
Genomic and cartography
GoldenPath hg38 (UCSC)ALDH1A2  -     chr15:57953424-58065923 -  15q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ALDH1A2  -     15q21.3   [Description]    (hg19-Feb_2009)
EnsemblALDH1A2 - 15q21.3 [CytoView hg19]  ALDH1A2 - 15q21.3 [CytoView hg38]
Mapping of homologs : NCBIALDH1A2 [Mapview hg19]  ALDH1A2 [Mapview hg38]
OMIM603687   
Gene and transcription
Genbank (Entrez)AA447978 AB015226 AB015227 AB015228 AK128709
RefSeq transcript (Entrez)NM_001206897 NM_003888 NM_170696 NM_170697
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ALDH1A2
Cluster EST : UnigeneHs.643455 [ NCBI ]
CGAP (NCI)Hs.643455
Alternative Splicing GalleryENSG00000128918
Gene ExpressionALDH1A2 [ NCBI-GEO ]   ALDH1A2 [ EBI - ARRAY_EXPRESS ]   ALDH1A2 [ SEEK ]   ALDH1A2 [ MEM ]
Gene Expression Viewer (FireBrowse)ALDH1A2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8854
GTEX Portal (Tissue expression)ALDH1A2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO94788   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO94788  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO94788
Splice isoforms : SwissVarO94788
Catalytic activity : Enzyme1.2.1.36 [ Enzyme-Expasy ]   1.2.1.361.2.1.36 [ IntEnz-EBI ]   1.2.1.36 [ BRENDA ]   1.2.1.36 [ KEGG ]   
PhosPhoSitePlusO94788
Domaine pattern : Prosite (Expaxy)ALDEHYDE_DEHYDR_CYS (PS00070)    ALDEHYDE_DEHYDR_GLU (PS00687)   
Domains : Interpro (EBI)Ald_DH/histidinol_DH    Ald_DH_C    Ald_DH_CS_CYS    Ald_DH_CS_GLU    Ald_DH_N    Aldehyde_DH_dom   
Domain families : Pfam (Sanger)Aldedh (PF00171)   
Domain families : Pfam (NCBI)pfam00171   
Conserved Domain (NCBI)ALDH1A2
DMDM Disease mutations8854
Blocks (Seattle)ALDH1A2
PDB (SRS)4X2Q   
PDB (PDBSum)4X2Q   
PDB (IMB)4X2Q   
PDB (RSDB)4X2Q   
Structural Biology KnowledgeBase4X2Q   
SCOP (Structural Classification of Proteins)4X2Q   
CATH (Classification of proteins structures)4X2Q   
SuperfamilyO94788
Human Protein AtlasENSG00000128918
Peptide AtlasO94788
HPRD04733
IPIIPI00216805   IPI00169288   IPI01011938   IPI01011430   IPI00241238   
Protein Interaction databases
DIP (DOE-UCLA)O94788
IntAct (EBI)O94788
FunCoupENSG00000128918
BioGRIDALDH1A2
STRING (EMBL)ALDH1A2
ZODIACALDH1A2
Ontologies - Pathways
QuickGOO94788
Ontology : AmiGOblood vessel development  retinal dehydrogenase activity  retinal dehydrogenase activity  kidney development  liver development  regulation of endothelial cell proliferation  heart morphogenesis  3-chloroallyl aldehyde dehydrogenase activity  aldehyde dehydrogenase (NAD) activity  cytoplasm  cytosol  vitamin A metabolic process  midgut development  positive regulation of cell proliferation  negative regulation of cell proliferation  determination of bilateral symmetry  anterior/posterior pattern specification  proximal/distal pattern formation  positive regulation of gene expression  neural crest cell development  morphogenesis of embryonic epithelium  retinal binding  neural tube development  pituitary gland development  neuron differentiation  lung development  hindbrain development  pancreas development  embryonic camera-type eye development  response to estradiol  response to vitamin A  response to cytokine  embryonic forelimb morphogenesis  ureter maturation  retinol metabolic process  retinoic acid metabolic process  retinal metabolic process  9-cis-retinoic acid biosynthetic process  positive regulation of apoptotic process  retinoic acid receptor signaling pathway  perinuclear region of cytoplasm  embryonic digestive tract development  cardiac muscle tissue development  oxidation-reduction process  face development  cellular response to retinoic acid  
Ontology : EGO-EBIblood vessel development  retinal dehydrogenase activity  retinal dehydrogenase activity  kidney development  liver development  regulation of endothelial cell proliferation  heart morphogenesis  3-chloroallyl aldehyde dehydrogenase activity  aldehyde dehydrogenase (NAD) activity  cytoplasm  cytosol  vitamin A metabolic process  midgut development  positive regulation of cell proliferation  negative regulation of cell proliferation  determination of bilateral symmetry  anterior/posterior pattern specification  proximal/distal pattern formation  positive regulation of gene expression  neural crest cell development  morphogenesis of embryonic epithelium  retinal binding  neural tube development  pituitary gland development  neuron differentiation  lung development  hindbrain development  pancreas development  embryonic camera-type eye development  response to estradiol  response to vitamin A  response to cytokine  embryonic forelimb morphogenesis  ureter maturation  retinol metabolic process  retinoic acid metabolic process  retinal metabolic process  9-cis-retinoic acid biosynthetic process  positive regulation of apoptotic process  retinoic acid receptor signaling pathway  perinuclear region of cytoplasm  embryonic digestive tract development  cardiac muscle tissue development  oxidation-reduction process  face development  cellular response to retinoic acid  
Pathways : KEGGRetinol metabolism   
NDEx NetworkALDH1A2
Atlas of Cancer Signalling NetworkALDH1A2
Wikipedia pathwaysALDH1A2
Orthology - Evolution
OrthoDB8854
GeneTree (enSembl)ENSG00000128918
Phylogenetic Trees/Animal Genes : TreeFamALDH1A2
HOVERGENO94788
HOGENOMO94788
Homologs : HomoloGeneALDH1A2
Homology/Alignments : Family Browser (UCSC)ALDH1A2
Gene fusions - Rearrangements
Fusion : MitelmanICE2/ALDH1A2 [15q22.2/15q21.3]  [t(15;15)(q21;q22)]  
Fusion : MitelmanTHSD4/ALDH1A2 [15q23/15q21.3]  [t(15;15)(q21;q23)]  
Fusion: TCGATHSD4 15q23 ALDH1A2 15q21.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerALDH1A2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ALDH1A2
dbVarALDH1A2
ClinVarALDH1A2
1000_GenomesALDH1A2 
Exome Variant ServerALDH1A2
ExAC (Exome Aggregation Consortium)ALDH1A2 (select the gene name)
Genetic variants : HAPMAP8854
Genomic Variants (DGV)ALDH1A2 [DGVbeta]
DECIPHERALDH1A2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisALDH1A2 
Mutations
ICGC Data PortalALDH1A2 
TCGA Data PortalALDH1A2 
Broad Tumor PortalALDH1A2
OASIS PortalALDH1A2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICALDH1A2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDALDH1A2
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 ALDH1A2
DgiDB (Drug Gene Interaction Database)ALDH1A2
DoCM (Curated mutations)ALDH1A2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ALDH1A2 (select a term)
intoGenALDH1A2
Cancer3DALDH1A2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603687   
Orphanet
MedgenALDH1A2
Genetic Testing Registry ALDH1A2
NextProtO94788 [Medical]
TSGene8854
GENETestsALDH1A2
Huge Navigator ALDH1A2 [HugePedia]
snp3D : Map Gene to Disease8854
BioCentury BCIQALDH1A2
ClinGenALDH1A2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8854
Chemical/Pharm GKB GenePA24693
Clinical trialALDH1A2
Miscellaneous
canSAR (ICR)ALDH1A2 (select the gene name)
Probes
Litterature
PubMed39 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineALDH1A2
EVEXALDH1A2
GoPubMedALDH1A2
iHOPALDH1A2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:05:39 CEST 2017

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