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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
  • Aldehyde Dehydrogenase 1 Family, Member A2 2 3
  • EC 1.2.1.36 4 63
  • RALDH(II) 3 4
  • RALDH 2 3 4
  • RALDH2 3 4
  • Aldehyde Dehydrogenase Family 1 Member A2 4
  • Retinaldehyde Dehydrogenase 2 2
  • RALDH2-T 3
  • EC 1.2.1 63

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]

GeneCards Summary for ALDH1A2 Gene

ALDH1A2 (Aldehyde Dehydrogenase 1 Family Member A2) is a Protein Coding gene. Diseases associated with ALDH1A2 include congenital diaphragmatic hernia and diaphragm disease. Among its related pathways are Signaling by GPCR and Metabolism. 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 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.

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

Regulatory Elements for ALDH1A2 Gene

Genomic Location for ALDH1A2 Gene

Chromosome:
15
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

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:
    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.

    Three dimensional structures from OCA and Proteopedia for ALDH1A2 Gene

    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

  • Ubiquitination at Lys 108, Lys 156, Lys 269, Lys 290, Lys 370, Lys 384, Lys 390, Lys 395, Lys 415, and Lys 429
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for ALDH1A2 Gene

Gene Families for ALDH1A2 Gene

Protein Domains for ALDH1A2 Gene

Suggested Antigen Peptide Sequences for ALDH1A2 Gene

Graphical View of Domain Structure for InterPro Entry

O94788

UniProtKB/Swiss-Prot:

AL1A2_HUMAN :
  • Belongs to the aldehyde dehydrogenase family.
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

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

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , 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

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ALDH1A2 Gene COMPARTMENTS Subcellular localization image for ALDH1A2 gene
Compartment Confidence
cytosol 5
nucleus 3
cytoskeleton 2
peroxisome 2
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components 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:0001889 liver development IEA --
GO:0001936 regulation of endothelial cell proliferation IEA --
GO:0002138 retinoic acid biosynthetic process IEA --
GO:0006776 vitamin A metabolic process NAS 8663198
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tretinoin Approved, Investigational Nutra Full agonist, Agonist, Target 210
Vitamin A Approved Nutra Target 413
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 2643
FAD Approved Pharma 0
Isotretinoin Approved Pharma 115

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
9-cis-Retinal
  • 9-cis-Retinal
  • 9-cis-Retinaldehyde
  • 9-cis-Vitamin A aldehyde
  • cis-9-Retinal
  • Isoretinene A
514-85-2
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
Agonist
Decanal
  • 1-Decanal
  • 1-Decanal(mixed isomers)
  • 1-Decyl aldehyde
  • Aldehyde c10
  • C-10 Aldehyde
112-31-2
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
Octanal
  • 1-Caprylaldehyde
  • 1-Octaldehyde
  • 1-Octanal
  • 1-Octylaldehyde
  • Aldehyde C-8
124-13-0

(4) Tocris Compounds for ALDH1A2 Gene

Compound Action Cas Number
Alda 1 ALDH2 activator; cardioprotective 349438-38-6
CVT 10216 Potent and selective ALDH2 inhibitor 1005334-57-5
Disulfiram Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 97-77-8
WIN 18446 ALDH1a2 inhibitor 1477-57-2

(1) ApexBio Compounds for ALDH1A2 Gene

Compound Action Cas Number
Cyclophosphamide Nitrogen mustard alkylating agent and prodrug. 50-18-0
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 (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, MOPED, and MaxQB for ALDH1A2 Gene



SOURCE GeneReport for Unigene cluster for ALDH1A2 Gene Hs.643455

genes like me logo Genes that share expression patterns with ALDH1A2: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia ALDH1A2 35
  • 93.5 (n)
  • 99.23 (a)
ALDH1A2 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALDH1A2 35
  • 94.21 (n)
  • 99.61 (a)
ALDH1A2 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aldh1a2 35
  • 90.22 (n)
  • 97.3 (a)
Aldh1a2 16
Aldh1a2 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ALDH1A2 35
  • 99.42 (n)
  • 99.61 (a)
ALDH1A2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aldh1a2 35
  • 90.41 (n)
  • 97.49 (a)
oppossum
(Monodelphis domestica)
Mammalia ALDH1A2 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALDH1A2 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALDH1A2 35
  • 83.03 (n)
  • 95.79 (a)
ALDH1A2 36
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALDH1A2 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh1a2 35
  • 80.69 (n)
  • 91 (a)
Str.6273 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.8908 35
zebrafish
(Danio rerio)
Actinopterygii aldh1a2 35
  • 73.1 (n)
  • 79.54 (a)
aldh1a2 36
  • 79 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG3752 37
  • 64 (a)
Aldh 36
  • 62 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E23057g 35
  • 53.42 (n)
  • 49.47 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALD6 35
  • 53.8 (n)
  • 47.26 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.465 35
barley
(Hordeum vulgare)
Liliopsida Hv.727 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8824 36
  • 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
rs34266719 - 58,014,250(-) CTCAG(A/G)GAGTG upstream-variant-2KB, reference, missense
rs35365164 - 58,013,892(-) GCTTG(C/T)AGACT reference, missense
rs4646626 - 57,963,929(-) GGCGC(A/G)TAGTG reference, missense
rs34744827 - 57,961,240(-) TTATC(A/C/G)AAAGA reference, missense
rs9325 -- 57,953,788(+) CCACA(A/T)ACTCT 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

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)

Relevant External Links for ALDH1A2 Gene

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

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: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
congenital diaphragmatic hernia
  • diaphragmatic hernia
diaphragm disease
  • disease of diaphragm
neural tube defects
  • spina bifida
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ALDH1A2

Genetic Association Database (GAD)
ALDH1A2
Human Genome Epidemiology (HuGE) Navigator
ALDH1A2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALDH1A2
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. 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 67
  2. Newborn serum retinoic acid level is associated with variants of genes in the retinol metabolism pathway. (PMID: 20308937) Manolescu D.C. … Goodyer P. (Pediatr. Res. 2010) 3 23
  3. Positive association between ALDH1A2 and schizophrenia in the Chinese population. (PMID: 19703508) Wan C. … He L. (Prog. Neuropsychopharmacol. Biol. Psychiatry 2009) 3 23
  4. ALDH1A2 (RALDH2) genetic variation in human congenital heart disease. (PMID: 19886994) Pavan M. … Xavier-Neto J. (BMC Med. Genet. 2009) 3 23
  5. Human basophils activated by mast cell-derived IL-3 express retinaldehyde dehydrogenase-II and produce the immunoregulatory mediator retinoic acid. (PMID: 18495959) Spiegl N. … Dahinden C.A. (Blood 2008) 3 23

Products for ALDH1A2 Gene

Sources for ALDH1A2 Gene

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