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ALDH1A2 (aldehyde dehydrogenase 1 family member A2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8854
Gene nameGene Name - the full gene name approved by the HGNC.
Aldehyde dehydrogenase 1 family member A2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ALDH1A2
SynonymsGene synonyms aliases
DIH4, RALDH(II), RALDH2, RALDH2-T
ChromosomeChromosome number
15
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q21.3
SummarySummary of gene provided in NCBI Entrez Gene.
This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020672 hsa-miR-155-5p Proteomics 18668040
MIRT047601 hsa-miR-10a-5p CLASH 23622248
MIRT047601 hsa-miR-10a-5p CLASH 23622248
MIRT041305 hsa-miR-193b-3p CLASH 23622248
MIRT039966 hsa-miR-615-3p CLASH 23622248
Transcription factors
Transcription factor Regulation Reference
GATA3 Unknown 9819382
TAL1 Activation 9819382
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001568 Process Blood vessel development IEA
GO:0001758 Function Retinal dehydrogenase activity IDA 29240402
GO:0001758 Function Retinal dehydrogenase activity ISS
GO:0001822 Process Kidney development IEA
GO:0001889 Process Liver development IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID O94788
Protein name Retinal dehydrogenase 2 (RALDH 2) (RalDH2) (EC 1.2.1.36) (Aldehyde dehydrogenase family 1 member A2) (ALDH1A2) (Retinaldehyde-specific dehydrogenase type 2) (RALDH(II))
Protein function Catalyzes the NAD-dependent oxidation of aldehyde substrates, such as all-trans-retinal and all-trans-13,14-dihydroretinal, to their corresponding carboxylic acids, all-trans-retinoate and all-trans-13,14-dihydroretinoate, respectively (PubMed:2
PDB 4X2Q , 6ALJ , 6B5G , 6B5H , 6B5I
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00171 Aldedh
46 509
Aldehyde dehydrogenase family
Family
Sequence
Sequence length 518
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Retinol metabolism
Metabolic pathways
  RA biosynthesis pathway
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316 30805717
Arthritis Degenerative polyarthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 24728293
Atrial fibrillation Atrial Fibrillation rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675 27790247
Diabetes Diabetes rs80356611 27790247
Unknown
Disease name Disease term dbSNP ID References
Barrett esophagus Barrett Esophagus rs41341748 24121790, 27527254
Cardiovascular diseases Cardiovascular Diseases 18179892
Coronary heart disease Coronary heart disease rs9289231, rs281864746 21347282, 27790247
Digestive system disorders Digestive System Disorders 24121790

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