ALDH1A2 (aldehyde dehydrogenase 1 family member A2)

2012-12-01  

Identity

HGNC
ALDH1A2
LOCATION
15q21.3
LOCUSID
8854
ALIAS
RALDH(II),RALDH2,RALDH2-T
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164712563BisphosphonatesChemicalClinicalAnnotationassociatedPD
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD29097388
PA445187OsteonecrosisDiseaseClinicalAnnotationassociatedPD
PA448499atenololChemicalClinicalAnnotationassociatedPD29097388
PA449899hydrochlorothiazideChemicalClinicalAnnotationassociatedPD29097388

References

Pubmed IDYearTitleCitations
384412332024A functional variant of ALDH1A2 is associated with hand osteoarthritis in the Chinese population.0
384412332024A functional variant of ALDH1A2 is associated with hand osteoarthritis in the Chinese population.0
362634702023ALDH1A2-related disorder: A new genetic syndrome due to alteration of the retinoic acid pathway.3
362634702023ALDH1A2-related disorder: A new genetic syndrome due to alteration of the retinoic acid pathway.3
350598882022An eQTL variant of ALDH1A2 is associated with Kashin-Beck disease in Chinese population.0
350598882022An eQTL variant of ALDH1A2 is associated with Kashin-Beck disease in Chinese population.0
333786902021Peanut protein acts as a T(H)2 adjuvant by inducing RALDH2 in human antigen-presenting cells.8
345721342021The Presence and Potential Role of ALDH1A2 in the Glioblastoma Microenvironment.5
333786902021Peanut protein acts as a T(H)2 adjuvant by inducing RALDH2 in human antigen-presenting cells.8
345721342021The Presence and Potential Role of ALDH1A2 in the Glioblastoma Microenvironment.5
319233932020Structural and kinetic features of aldehyde dehydrogenase 1A (ALDH1A) subfamily members, cancer stem cell markers active in retinoic acid biosynthesis.17
319233932020Structural and kinetic features of aldehyde dehydrogenase 1A (ALDH1A) subfamily members, cancer stem cell markers active in retinoic acid biosynthesis.17
297327262018Functional Characterization of the Osteoarthritis Genetic Risk Residing at ALDH1A2 Identifies rs12915901 as a Key Target Variant.22
297327262018Functional Characterization of the Osteoarthritis Genetic Risk Residing at ALDH1A2 Identifies rs12915901 as a Key Target Variant.22
276434042017Alcohol consumption and prostate cancer incidence and progression: A Mendelian randomisation study.19

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