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Aliases for ALDH1A2 Gene

Aliases for ALDH1A2 Gene

  • Aldehyde Dehydrogenase 1 Family, Member A2 2 3
  • RALDH2 3 4 6
  • Retinaldehyde-Specific Dehydrogenase Type 2 3 4
  • EC 1.2.1.36 4 64
  • RALDH(II) 3 4
  • RALDH 2 3 4
  • Aldehyde Dehydrogenase Family 1 Member A2 4
  • Retinaldehyde Dehydrogenase 2 2
  • Retinal Dehydrogenase 2 3
  • RALDH2-T 3
  • EC 1.2.1 64

External Ids for ALDH1A2 Gene

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]

GeneCards Summary for ALDH1A2 Gene

ALDH1A2 (Aldehyde Dehydrogenase 1 Family, Member A2) is a Protein Coding gene. Among its related pathways are Metabolism and retinoate biosynthesis I. GO annotations related to this gene include retinal binding and 3-chloroallyl aldehyde dehydrogenase activity. An important paralog of this gene is ALDH9A1.

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. Over 550 aldehyde genes have been identified across different species, which can be split into numerous families. There are 19 known human aldehyde dehydrogenase genes. ALDH2, a human mitochondrial enzyme belonging to family 2, is responsible for breaking down acetaldehyde produced by ethanol. Inhibition of aldehyde dehydrogenase therefore results in the build-up of acetaldehyde, a toxic metabolite which is thought to be responsible for hangover symptoms.

Gene Wiki entry for ALDH1A2 Gene

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

Genomics for ALDH1A2 Gene

Genomic Location for ALDH1A2 Gene

Start:
57,953,424 bp from pter
End:
58,497,866 bp from pter
Size:
544,443 bases
Orientation:
Minus strand

Genomic View for ALDH1A2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ALDH1A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDH1A2 Gene

Regulatory Elements for ALDH1A2 Gene

Proteins for ALDH1A2 Gene

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

    Protein Symbol:
    O94788-AL1A2_HUMAN
    Recommended name:
    Retinal dehydrogenase 2
    Protein Accession:
    O94788
    Secondary Accessions:
    • B3KY52
    • B4DZR2
    • F5H2Y9
    • H0YM00
    • Q2PJS6
    • Q8NHQ4
    • Q9UBR8
    • Q9UFY0

    Protein attributes for ALDH1A2 Gene

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

    Alternative splice isoforms for ALDH1A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALDH1A2 Gene

Proteomics data for ALDH1A2 Gene at MOPED

Post-translational modifications for ALDH1A2 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys108, Lys156, Lys269, Lys290, Lys370, Lys384, Lys390, Lys395, Lys415, and Lys429

Domains for ALDH1A2 Gene

Gene Families for ALDH1A2 Gene

HGNC:
  • ALDH :Aldehyde dehydrogenases

Protein Domains for ALDH1A2 Gene

UniProtKB/Swiss-Prot:

AL1A2_HUMAN
Family:
  • Belongs to the aldehyde dehydrogenase family.:
    • O94788
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

Gene Ontology (GO) - Molecular Function for ALDH1A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001758 retinal dehydrogenase activity ISS --
GO:0004028 3-chloroallyl aldehyde dehydrogenase activity ISS --
GO:0004029 aldehyde dehydrogenase (NAD) activity IBA --
GO:0016491 oxidoreductase activity --
GO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor --
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:

miRNA for ALDH1A2 Gene

No data available for Transcription Factor Targeting and HOMER Transcription for ALDH1A2 Gene

Localization for ALDH1A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDH1A2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ALDH1A2 Gene COMPARTMENTS Subcellular localization image for ALDH1A2 gene
Compartment Confidence
nucleus 4
cytosol 3
peroxisome 2
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ALDH1A2 Gene

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

Pathways for ALDH1A2 Gene

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

Pathways by source for ALDH1A2 Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for ALDH1A2 Gene
2 KEGG pathways 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 --
genes like me logo Genes that share ontologies with ALDH1A2: view

Compounds for ALDH1A2 Gene

(2) Tocris Compounds for ALDH1A2 Gene

Compound Action Cas Number
Alda 1 ALDH2 activator; cardioprotective [349438-38-6]
WIN 18446 ALDH1a2 inhibitor [1477-57-2]

(11) HMDB Compounds for ALDH1A2 Gene

Compound Synonyms Cas Number PubMed IDs
9-cis-Retinal
  • 9-cis-Retinal
514-85-2
9-cis-Retinoic acid
  • Tretinoin [usan:ban:inn]
Not Available
Decanal
  • N-decaldehyde
112-31-2
FAD
  • 1H-Purin-6-amine flavin dinucleotide
146-14-5
NAD
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
53-84-9

(4) Drugbank Compounds for ALDH1A2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
NADH
  • beta-DPNH
606-68-8 target
Nicotinamide-Adenine-Dinucleotide
53-84-9 target
Tretinoin
  • All Trans Retinoic Acid
302-79-4 target
Vitamin A
  • [11,12-3H]-Retinol
68-26-8 target

(6) Novoseek inferred chemical compound relationships for ALDH1A2 Gene

Compound -log(P) Hits PubMed IDs
retinaldehyde 95.6 18
retinoic acid 86.1 56
retinoid 84.3 10
vitamin a 81.4 15
citral 60.6 2

(1) PharmGKB related drug/compound annotations for ALDH1A2 Gene

Drug/compound Annotation
Bisphosphonates CA
genes like me logo Genes that share compounds with ALDH1A2: view

Transcripts for ALDH1A2 Gene

Unigene Clusters for ALDH1A2 Gene

Aldehyde dehydrogenase 1 family, member A2:
Representative Sequences:

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
SP1:
SP2: -

Relevant External Links for ALDH1A2 Gene

GeneLoc Exon Structure for
ALDH1A2
ECgene alternative splicing isoforms for
ALDH1A2

Expression for ALDH1A2 Gene

mRNA expression in normal human tissues 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 (6.9), Uterus (6.2), and Cervix - Endocervix (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ALDH1A2 Gene

SOURCE GeneReport for Unigene cluster for ALDH1A2 Gene Hs.643455

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

Orthologs for ALDH1A2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALDH1A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALDH1A2 36
  • 99.42 (n)
  • 99.61 (a)
ALDH1A2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ALDH1A2 36
  • 93.5 (n)
  • 99.23 (a)
ALDH1A2 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALDH1A2 36
  • 94.21 (n)
  • 99.61 (a)
ALDH1A2 37
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aldh1a2 36
  • 90.22 (n)
  • 97.3 (a)
Aldh1a2 16
Aldh1a2 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ALDH1A2 37
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALDH1A2 37
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aldh1a2 36
  • 90.41 (n)
  • 97.49 (a)
chicken
(Gallus gallus)
Aves ALDH1A2 36
  • 83.03 (n)
  • 95.79 (a)
ALDH1A2 37
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALDH1A2 37
  • 86 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.8908 36
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh1a2 36
  • 80.69 (n)
  • 91 (a)
Str.6273 36
zebrafish
(Danio rerio)
Actinopterygii aldh1a2 36
  • 73.1 (n)
  • 79.54 (a)
aldh1a2 37
  • 79 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Aldh 37
  • 62 (a)
OneToMany
CG3752 38
  • 64 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALD6 36
  • 53.8 (n)
  • 47.26 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E23057g 36
  • 53.42 (n)
  • 49.47 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.465 36
barley
(Hordeum vulgare)
Liliopsida Hv.727 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8824 37
  • 65 (a)
OneToMany
Species with no ortholog for ALDH1A2:
  • 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

ENSEMBL:
Gene Tree for ALDH1A2 (if available)
TreeFam:
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 Sequence Context AA Info Type MAF
rs9325 -- 57,953,788(+) CCACA(A/T)ACTCT utr-variant-3-prime
rs769158 -- 57,983,626(+) TATAT(G/T)AAATG intron-variant
rs894340 -- 57,965,147(-) TAGAG(A/C)AGTAA intron-variant
rs1061278 -- 57,953,831(-) ACCTA(A/G)ATGCA utr-variant-3-prime
rs1063666 -- 57,954,404(-) TGGGT(G/T)GTTTT utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv7266 OTHER Inversion 18451855
nsv904254 CNV Gain 21882294
nsv833023 CNV Gain 17160897
dgv2388n71 CNV Loss 21882294
dgv2389n71 CNV Loss 21882294
nsv904261 CNV Loss 21882294
esv2533857 CNV Deletion 19546169
esv2749738 CNV Deletion 23290073
dgv12e194 CNV Deletion 18987734
esv4077 CNV Deletion 18987735
esv2749739 CNV Deletion 23290073
esv1602894 CNV Deletion 17803354
esv2658819 CNV Deletion 23128226
nsv904262 CNV Loss 21882294
nsv904263 CNV Loss 21882294

Relevant External Links for ALDH1A2 Gene

HapMap Linkage Disequilibrium report
ALDH1A2
Human Gene Mutation Database (HGMD)
ALDH1A2

Disorders for ALDH1A2 Gene

(1) University of Copenhagen DISEASES for ALDH1A2 Gene

(1) Novoseek inferred disease relationships for ALDH1A2 Gene

Disease -log(P) Hits PubMed IDs
spina bifida 45.8 3

Relevant External Links for ALDH1A2

Genetic Association Database (GAD)
ALDH1A2
Human Genome Epidemiology (HuGE) Navigator
ALDH1A2
genes like me logo Genes that share disorders with ALDH1A2: view

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

Publications for ALDH1A2 Gene

  1. Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2. (PMID: 16237707) Deak K.L. … Speer M.C. (Birth Defects Res. Part A Clin. Mol. Teratol. 2005) 3 23 49
  2. Positive association between ALDH1A2 and schizophrenia in the Chinese population. (PMID: 19703508) Wan C. … He L. (Prog. Neuropsychopharmacol. Biol. Psychiatry 2009) 3 23 49
  3. ALDH1A2 (RALDH2) genetic variation in human congenital heart disease. (PMID: 19886994) Pavan M. … Xavier-Neto J. (BMC Med. Genet. 2009) 3 23 49
  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. (Mol. Cell. Biol. 1998) 2 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

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Sources for ALDH1A2 Gene

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