ALDH1A2 (aldehyde dehydrogenase 1 family member A2)

2012-12-01  

Identity

HGNC
LOCATION
15q21.3
LOCUSID
ALIAS
RALDH(II),RALDH2,RALDH2-T
FUSION GENES

Other Information

Locus ID:

NCBI: 8854
MIM: 603687
HGNC: 15472
Ensembl: ENSG00000128918

Variants:

dbSNP: 8854
ClinVar: 8854
TCGA: ENSG00000128918
COSMIC: ALDH1A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000128918ENST00000249750O94788
ENSG00000128918ENST00000347587O94788
ENSG00000128918ENST00000430119E9PF31
ENSG00000128918ENST00000537372O94788
ENSG00000128918ENST00000557967A0A0G2JL97
ENSG00000128918ENST00000558231H0YMG7
ENSG00000128918ENST00000558239Q9UED3
ENSG00000128918ENST00000558384H0YMT5
ENSG00000128918ENST00000559517O94788
ENSG00000128918ENST00000561070H0YKL3

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Retinol metabolismKEGGko00830
Retinol metabolismKEGGhsa00830
Metabolic pathwaysKEGGhsa01100
Signal TransductionREACTOMER-HSA-162582
Signaling by Retinoic AcidREACTOMER-HSA-5362517
RA biosynthesis pathwayREACTOMER-HSA-5365859

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164712563BisphosphonatesChemicalClinicalAnnotationassociatedPD
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD29097388
PA445187OsteonecrosisDiseaseClinicalAnnotationassociatedPD
PA448499atenololChemicalClinicalAnnotationassociatedPD29097388
PA449899hydrochlorothiazideChemicalClinicalAnnotationassociatedPD29097388

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
163689322006Retinaldehyde dehydrogenase 2 (RALDH2)-mediated retinoic acid synthesis regulates early mouse embryonic forebrain development by controlling FGF and sonic hedgehog signaling.39
247282932014Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31.38
248848752014Cisplatin-resistant cells in malignant pleural mesothelioma cell lines show ALDH(high)CD44(+) phenotype and sphere-forming capacity.33
194789942009Consequences of lineage-specific gene loss on functional evolution of surviving paralogs: ALDH1A and retinoic acid signaling in vertebrate genomes.29
263660592015Distinct prognostic values and potential drug targets of ALDH1 isoenzymes in non-small-cell lung cancer.22
162377072005Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2.16
255248802015Involvement of aldehyde dehydrogenase 1A2 in the regulation of cancer stem cell properties in neuroblastoma.15
203759872010A human ALDH1A2 gene variant is associated with increased newborn kidney size and serum retinoic acid.14
203759872010A human ALDH1A2 gene variant is associated with increased newborn kidney size and serum retinoic acid.14

Citation

Dessen P

ALDH1A2 (aldehyde dehydrogenase 1 family member A2)

Atlas Genet Cytogenet Oncol Haematol. 2012-12-01

Online version: http://atlasgeneticsoncology.org/gene/53100/aldh1a2