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Aliases for ALDH1A2 Gene

Aliases for ALDH1A2 Gene

  • Aldehyde Dehydrogenase 1 Family Member A2 2 3 5
  • Retinaldehyde-Specific Dehydrogenase Type 2 3 4
  • EC 4 56
  • RALDH(II) 3 4
  • RALDH 2 3 4
  • RALDH2 3 4
  • Aldehyde Dehydrogenase 1 Family, Member A2 2
  • Aldehyde Dehydrogenase Family 1 Member A2 4
  • Retinaldehyde Dehydrogenase 2 2
  • Retinal Dehydrogenase 2 3
  • RALDH2-T 3
  • EC 1.2.1 56

External Ids for ALDH1A2 Gene

Previous GeneCards Identifiers for ALDH1A2 Gene

  • GC15M053802
  • GC15M051292
  • GC15M055824
  • GC15M055961
  • GC15M056032
  • GC15M058245
  • GC15M035068

Summaries for ALDH1A2 Gene

Entrez Gene Summary for ALDH1A2 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 signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011]

CIViC summary for ALDH1A2 Gene

GeneCards Summary for ALDH1A2 Gene

ALDH1A2 (Aldehyde Dehydrogenase 1 Family Member A2) is a Protein Coding gene. Diseases associated with ALDH1A2 include Diaphragm Disease and Neural Tube Defects. Among its related pathways are Vitamin A and Carotenoid Metabolism and Drug metabolism - cytochrome P450. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor. An important paralog of this gene is ALDH1A1.

UniProtKB/Swiss-Prot for ALDH1A2 Gene

  • Recognizes as substrates free retinal and cellular retinol-binding protein-bound retinal. Does metabolize octanal and decanal but does not metabolize citral, benzaldehyde, acetaldehyde and propanal efficiently (By similarity).

Tocris Summary for ALDH1A2 Gene

  • Aldehyde dehydrogenase enzymes oxidize aldehydes to generate carboxylic acids for use in the muscle and heart. Numerous aldehyde dehydrogenase genes exist, of which ALDH2 is best known for its role in alcohol oxidation.

Gene Wiki entry for ALDH1A2 Gene

Additional gene information for ALDH1A2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALDH1A2 Gene

Genomics for ALDH1A2 Gene

GeneHancer (GH) Regulatory Elements for ALDH1A2 Gene

Promoters and enhancers for ALDH1A2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15I058061 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 554.9 +433.5 433528 5.4 PKNOX1 SMAD1 FEZF1 ZNF2 YY1 ZNF766 ZNF213 ZNF143 ZNF263 SP3 ALDH1A2 ENSG00000259285 PIR51557 SLTM RNF111 ENSG00000274719
GH15I058498 Enhancer 1 Ensembl ENCODE dbSUPER 550.8 -1.4 -1442 2.2 L3MBTL2 ATF2 ZSCAN5C VEZF1 GLIS1 FOS ATF7 HNF4A MGA LIPC-AS1 ALDH1A2 ADAM10 LIPC ENSG00000259476
GH15I058014 Promoter 1 EPDnew 550 +483.8 483831 0.1 HDAC1 LEF1 PKNOX1 TAL1 CHAMP1 TCF12 CCNT2 CTBP1 FOXK2 CBFA2T2 ALDH1A2 ENSG00000274719 PIR51557
GH15I058313 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 5.2 +183.4 183424 2.1 HDAC1 BCOR HDGF TAL1 ZMYM3 TCF12 POLR2A PHF20 ADNP SMARCA5 ALDH1A2 ENSG00000225798 LOC101928635 GC15M058232
GH15I057922 Enhancer 0.8 Ensembl ENCODE 6.4 +574.5 574485 1.6 CTCF RXRA RAD21 NR2F2 YY1 JUND ATF3 HNF4G HNF4A ALDH1A2 GC15M057895 GC15M057957 GC15M057958
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ALDH1A2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ALDH1A2 gene promoter:

Genomic Locations for ALDH1A2 Gene

Genomic Locations for ALDH1A2 Gene
544,443 bases
Minus strand

Genomic View for ALDH1A2 Gene

Genes around ALDH1A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALDH1A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALDH1A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDH1A2 Gene

Proteins for ALDH1A2 Gene

  • Protein details for ALDH1A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Retinal dehydrogenase 2
    Protein Accession:
    Secondary Accessions:
    • B3KY52
    • B4DZR2
    • F5H2Y9
    • H0YM00
    • Q2PJS6
    • Q8NHQ4
    • Q9UBR8
    • Q9UFY0

    Protein attributes for ALDH1A2 Gene

    518 amino acids
    Molecular mass:
    56724 Da
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for ALDH1A2 Gene

    Alternative splice isoforms for ALDH1A2 Gene


neXtProt entry for ALDH1A2 Gene

Selected DME Specific Peptides for ALDH1A2 Gene


Post-translational modifications for ALDH1A2 Gene

  • Ubiquitination at posLast=108108, Lys156, posLast=269269, posLast=290290, Lys370, posLast=384384, posLast=390390, Lys395, posLast=415415, and Lys429

Domains & Families for ALDH1A2 Gene

Gene Families for ALDH1A2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ALDH1A2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the aldehyde dehydrogenase family.
  • Belongs to the aldehyde dehydrogenase family.
genes like me logo Genes that share domains with ALDH1A2: view

Function for ALDH1A2 Gene

Molecular function for ALDH1A2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Retinal + NAD(+) + H(2)O = retinoate + NADH.
UniProtKB/Swiss-Prot Function:
Recognizes as substrates free retinal and cellular retinol-binding protein-bound retinal. Does metabolize octanal and decanal but does not metabolize citral, benzaldehyde, acetaldehyde and propanal efficiently (By similarity).

Enzyme Numbers (IUBMB) for ALDH1A2 Gene

Phenotypes From GWAS Catalog for ALDH1A2 Gene

Gene Ontology (GO) - Molecular Function for ALDH1A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001758 retinal dehydrogenase activity TAS --
GO:0004028 3-chloroallyl aldehyde dehydrogenase activity ISS --
GO:0004029 aldehyde dehydrogenase (NAD) activity IBA --
GO:0016491 oxidoreductase activity IEA --
GO:0016918 retinal binding ISS --
genes like me logo Genes that share ontologies with ALDH1A2: view
genes like me logo Genes that share phenotypes with ALDH1A2: view

Animal Models for ALDH1A2 Gene

MGI Knock Outs for ALDH1A2:

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ALDH1A2 Gene

Localization for ALDH1A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDH1A2 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALDH1A2 gene
Compartment Confidence
cytosol 5
peroxisome 2
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ALDH1A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 18495959
GO:0005829 cytosol TAS --
GO:0048471 perinuclear region of cytoplasm IEA --
genes like me logo Genes that share ontologies with ALDH1A2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ALDH1A2 Gene

Pathways & Interactions for ALDH1A2 Gene

genes like me logo Genes that share pathways with ALDH1A2: view

Pathways by source for ALDH1A2 Gene

2 KEGG pathways for ALDH1A2 Gene
1 GeneGo (Thomson Reuters) pathway for ALDH1A2 Gene

UniProtKB/Swiss-Prot O94788-AL1A2_HUMAN

  • Pathway: Cofactor metabolism; retinol metabolism.

Gene Ontology (GO) - Biological Process for ALDH1A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001568 blood vessel development IEA --
GO:0001822 kidney development IEA --
GO:0001889 liver development IEA --
GO:0001936 regulation of endothelial cell proliferation IEA --
GO:0002138 retinoic acid biosynthetic process IEA --
genes like me logo Genes that share ontologies with ALDH1A2: view

No data available for SIGNOR curated interactions for ALDH1A2 Gene

Drugs & Compounds for ALDH1A2 Gene

(13) Drugs for ALDH1A2 Gene - From: DrugBank, PharmGKB, ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Vitamin A Approved, Vet_approved Nutra Target 529
Tretinoin Approved, Investigational Nutra Target 242
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 3113
FAD Approved Pharma 0

(13) Additional Compounds for ALDH1A2 Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 9-cis-Retinal
  • 9-cis-Retinaldehyde
  • 9-cis-Vitamin A aldehyde
  • cis-9-Retinal
  • Isoretinene A
9-cis-retinoic acid
  • 15-Apo-beta-caroten-15-oate
  • 15-Apo-beta-caroten-15-oic acid
  • 9-cis-Retinoate
  • 9-cis-Retinoic acid
  • 9-cis-Tretinoin
all-trans-retinoic acid
  • (all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoate
  • (all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid
  • 3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoate
  • 3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid
  • Acide retinoique (French)
Full agonist, Agonist 302-79-4
  • 1-Decanal
  • 1-Decanal(mixed isomers)
  • 1-Decyl aldehyde
  • Aldehyde c10
  • C-10 Aldehyde
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton

(4) Tocris Compounds for ALDH1A2 Gene

Compound Action Cas Number
A37 ALDH1A1 inhibitor 896795-60-1
Alda 1 ALDH2 activator; cardioprotective 349438-38-6
CVT 10216 Potent and selective ALDH2 inhibitor 1005334-57-5
WIN 18446 ALDH1a2 inhibitor 1477-57-2

(2) ApexBio Compounds for ALDH1A2 Gene

Compound Action Cas Number
CVT 10216 1005334-57-5
Cyclophosphamide Nitrogen mustard alkylating agent and prodrug. 50-18-0
genes like me logo Genes that share compounds with ALDH1A2: view

Drug Products

Transcripts for ALDH1A2 Gene

Unigene Clusters for ALDH1A2 Gene

Aldehyde dehydrogenase 1 family, member A2:
Representative Sequences:

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALDH1A2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP2: -

Relevant External Links for ALDH1A2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ALDH1A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ALDH1A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ALDH1A2 Gene

This gene is overexpressed in Cervix - Ectocervix (x6.9), Uterus (x6.2), and Cervix - Endocervix (x4.4).

Protein differential expression in normal tissues from HIPED for ALDH1A2 Gene

This gene is overexpressed in Seminal vesicle (39.5) and Uterus (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ALDH1A2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ALDH1A2 Gene:


SOURCE GeneReport for Unigene cluster for ALDH1A2 Gene:


Evidence on tissue expression from TISSUES for ALDH1A2 Gene

  • Nervous system(2.7)
  • Blood(2.4)
  • Heart(2.3)
  • Muscle(2.1)
  • Lung(2)
genes like me logo Genes that share expression patterns with ALDH1A2: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ALDH1A2 Gene

Orthologs for ALDH1A2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALDH1A2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ALDH1A2 33 34
  • 99.42 (n)
(Monodelphis domestica)
Mammalia ALDH1A2 34
  • 97 (a)
(Canis familiaris)
Mammalia ALDH1A2 33 34
  • 94.21 (n)
(Bos Taurus)
Mammalia ALDH1A2 33 34
  • 93.5 (n)
(Rattus norvegicus)
Mammalia Aldh1a2 33
  • 90.41 (n)
(Mus musculus)
Mammalia Aldh1a2 33 16 34
  • 90.22 (n)
(Ornithorhynchus anatinus)
Mammalia ALDH1A2 34
  • 83 (a)
(Gallus gallus)
Aves ALDH1A2 33 34
  • 83.03 (n)
(Anolis carolinensis)
Reptilia ALDH1A2 34
  • 86 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh1a2 33
  • 80.69 (n)
Str.6273 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.8908 33
(Danio rerio)
Actinopterygii aldh1a2 33 34
  • 73.1 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3752 35
  • 64 (a)
Aldh 34
  • 62 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALD6 33
  • 53.8 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E23057g 33
  • 53.42 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.465 33
(Hordeum vulgare)
Liliopsida Hv.727 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8824 34
  • 65 (a)
Species where no ortholog for ALDH1A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ALDH1A2 Gene

Gene Tree for ALDH1A2 (if available)
Gene Tree for ALDH1A2 (if available)

Paralogs for ALDH1A2 Gene

genes like me logo Genes that share paralogs with ALDH1A2: view

Variants for ALDH1A2 Gene

Sequence variations from dbSNP and Humsavar for ALDH1A2 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000050330 -- 57,990,472(-) C/T intron_variant
rs1000061772 -- 58,065,235(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000073619 -- 58,011,949(-) G/T intron_variant
rs1000082056 -- 57,975,521(-) G/T intron_variant
rs1000151899 -- 58,027,484(-) C/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ALDH1A2 Gene

Variant ID Type Subtype PubMed ID
nsv976939 CNV duplication 23825009
nsv833023 CNV gain 17160897
nsv7266 OTHER inversion 18451855
nsv569596 CNV loss 21841781
nsv569595 CNV loss 21841781
nsv569594 CNV loss 21841781
nsv569593 CNV loss 21841781
nsv1152648 CNV deletion 26484159
nsv1122970 CNV deletion 24896259
esv4077 CNV loss 18987735
esv3892701 CNV loss 25118596
esv3636619 CNV loss 21293372
esv3552508 CNV deletion 23714750
esv3191417 CNV deletion 24192839
esv2749739 CNV deletion 23290073
esv2749738 CNV deletion 23290073
esv2658819 CNV deletion 23128226
esv2533857 CNV deletion 19546169
esv1602894 CNV deletion 17803354
dgv12e194 CNV deletion 18987734

Variation tolerance for ALDH1A2 Gene

Residual Variation Intolerance Score: 11.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.86; 93.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALDH1A2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALDH1A2 Gene

Disorders for ALDH1A2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ALDH1A2 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
diaphragm disease
  • abnormality of the diaphragm
neural tube defects
  • neural tube defects, susceptibility to
diaphragmatic hernia, congenital
  • dih
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ALDH1A2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ALDH1A2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ALDH1A2 Gene

Publications for ALDH1A2 Gene

  1. ALDH1A2 (RALDH2) genetic variation in human congenital heart disease. (PMID: 19886994) Pavan M … Xavier-Neto J (BMC medical genetics 2009) 3 22 44 58
  2. Positive association between ALDH1A2 and schizophrenia in the Chinese population. (PMID: 19703508) Wan C … He L (Progress in neuro-psychopharmacology & biological psychiatry 2009) 3 22 44 58
  3. Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2. (PMID: 16237707) Deak KL … NTD Collaborative Group (Birth defects research. Part A, Clinical and molecular teratology 2005) 3 22 44 58
  4. TAL1 and LIM-only proteins synergistically induce retinaldehyde dehydrogenase 2 expression in T-cell acute lymphoblastic leukemia by acting as cofactors for GATA3. (PMID: 9819382) Ono Y … Yoshie O (Molecular and cellular biology 1998) 2 3 4 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for ALDH1A2 Gene

Sources for ALDH1A2 Gene

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