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ALDH1A2 Gene

protein-coding   GIFtS: 71
GCID: GC15M058245

Aldehyde Dehydrogenase 1 Family, Member A2

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Aldehyde Dehydrogenase 1 Family, Member A21 2     Retinaldehyde Dehydrogenase 21
RALDH22 3 5     RALDH2-T2
Retinaldehyde-Specific Dehydrogenase Type 22 3     Retinal Dehydrogenase 22
RALDH(II)2 3     RalDH23
RALDH 22 3     Aldehyde Dehydrogenase Family 1 Member A23
EC 1.2.1.363 8     EC 1.2.18

External Ids:    HGNC: 154721   Entrez Gene: 88542   Ensembl: ENSG000001289187   OMIM: 6036875   UniProtKB: O947883   
ORGUL members:         

Export aliases for ALDH1A2 gene to outside databases

Previous GC identifers: GC15M053802 GC15M051292 GC15M055824 GC15M055961 GC15M056032 GC15M035068


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 hangover, and partial fetal alcohol syndrome. GO annotations related to this gene include 3-chloroallyl aldehyde dehydrogenase activity and retinal binding. An important paralog of this gene is ALDH1L2.

UniProtKB/Swiss-Prot: AL1A2_HUMAN, O94788
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)

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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000015.10  NC_018926.2  NT_010194.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the ALDH1A2 gene promoter:
         SRF   Sox5   STAT1   SRF (504 AA)   STAT1beta   STAT1alpha   Nkx6-1   HFH-1   FOXJ2 (long isoform)   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALDH1A2 promoter sequence
   Search Chromatin IP Primers for ALDH1A2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALDH1A2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q21.3   Ensembl cytogenetic band:  15q21.3   HGNC cytogenetic band: 15q21.2

ALDH1A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALDH1A2 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M058245:  view genomic region     (about GC identifiers)

Start:
58,245,622 bp from pter      End:
58,790,065 bp from pter
Size:
544,444 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AL1A2_HUMAN, O94788 (See protein sequence)
Recommended Name: Retinal dehydrogenase 2  
Size: 518 amino acids; 56724 Da
Subunit: Homotetramer (By similarity)
Secondary accessions: B3KY52 B4DZR2 F5H2Y9 H0YM00 Q2PJS6 Q8NHQ4 Q9UBR8 Q9UFY0
Alternative splicing: 4 isoforms:  O94788-1   O94788-2   O94788-3   O94788-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ALDH1A2: NX_O94788

Explore proteomics data for ALDH1A2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys108, Lys156, Lys269, Lys290, Lys370, Lys384, Lys390, Lys395, Lys415, Lys429
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ALDH1A2 (O94788) (see all 30)
     VYNPATG  TLELGGK  AQSPFGG  RHEPIGV 


    See ALDH1A2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001193826.1  NP_003879.2  NP_733797.1  NP_733798.1  

    ENSEMBL proteins: 
     ENSP00000249750   ENSP00000453734   ENSP00000309623   ENSP00000416754   ENSP00000453600  
     ENSP00000453408   ENSP00000452850   ENSP00000453292   ENSP00000454028   ENSP00000438296  

    ALDH1A2 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for ALDH1A2

    ALDH1A2 Antibody Products:

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    ALDH1A2 Assay Products:

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    Cloud-Clone Corp. ELISAs for ALDH1A2
    Cloud-Clone Corp. CLIAs for ALDH1A2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ALDH: Aldehyde dehydrogenases

    5 InterPro protein domains:
     IPR016163 Ald_DH_C
     IPR016162 Ald_DH_N
     IPR016161 Ald_DH/histidinol_DH
     IPR015590 Aldehyde_DH_dom
     IPR016160 Ald_DH_CS

    Graphical View of Domain Structure for InterPro Entry O94788

    ProtoNet protein and cluster: O94788

    1 Blocks protein domain: IPB002086 Aldehyde dehydrogenase

    UniProtKB/Swiss-Prot: AL1A2_HUMAN, O94788
    Similarity: Belongs to the aldehyde dehydrogenase family


    ALDH1A2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AL1A2_HUMAN, O94788
    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)
    Catalytic activity: Retinal + NAD(+) + H(2)O = retinoate + NADH

         Enzyme Numbers (IUBMB): EC 1.2.1.361 2 EC 1.2.12

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001758retinal dehydrogenase activity ISS--
    GO:00040283-chloroallyl aldehyde dehydrogenase activity ISS--
    GO:0016491oxidoreductase activity ----
    GO:0016620oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor ----
    GO:0016918retinal binding ISS--
         
    ALDH1A2 for ontologies           About GeneDecksing


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 6 alleles(MGI details for Aldh1a2) (see all 19):
     cardiovascular system  cellular  craniofacial  embryogenesis  endocrine/exocrine gland 
     growth/size/body  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system 
     limbs/digits/tail  mortality/aging  muscle  nervous system  normal 

    ALDH1A2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ALDH1A2: Aldh1a2tm1Ipc Aldh1a2tm1Soc Aldh1a2tm1Gdu

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ALDH1A2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ALDH1A2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ALDH1A2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ALDH1A2

    miRNA
    Products:
        
    miRTarBase miRNAs that target ALDH1A2:
    hsa-mir-193b-3p (MIRT041305), hsa-mir-10a-5p (MIRT047601), hsa-mir-615-3p (MIRT039966), hsa-mir-155-5p (MIRT020672)

    Block miRNA regulation of human, mouse, rat ALDH1A2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ALDH1A2 (see all 31):
    hsa-miR-2052 hsa-miR-4307 hsa-miR-19b-2* hsa-miR-137 hsa-miR-449c* hsa-miR-340 hsa-miR-4267 hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmidALDH1A2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ALDH1A2
    Predesigned siRNA for gene silencing in human, mouse, rat ALDH1A2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ALDH1A2

    Clone
    Products:
         
    OriGene clones in human, mouse for ALDH1A2 (see all 18)
    OriGene ORF clones in mouse, rat for ALDH1A2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ALDH1A2 (NM_003888)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALDH1A2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALDH1A2

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for ALDH1A2
    ESI BIO PureStem Progenitor for ALDH1A2: 
    PureStem MEL2, NCr-fac Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALDH1A2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AL1A2_HUMAN, O94788: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol3
    peroxisome2
    cytoskeleton1
    mitochondrion1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005737cytoplasm IDA18495959
    GO:0005829cytosol IEA--
    GO:0048471perinuclear region of cytoplasm IEA--

    ALDH1A2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ALDH1A2 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Tryptophan metabolism
    Tryptophan metabolism0.46
    2Metabolism
    Metabolic pathways0.38
    3Chemical carcinogenesis
    Retinol metabolism0.35
    4Vitamin A and carotenoid metabolism
    Vitamin A and carotenoid metabolism
    5Retinol metabolism
    Retinol metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for ALDH1A2
        Retinol metabolism

    3 BioSystems Pathways for ALDH1A2
        Vitamin A and carotenoid metabolism
    Tryptophan metabolism
    retinoate biosynthesis I


    2 Kegg Pathways  (Kegg details for ALDH1A2):
        Retinol metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: AL1A2_HUMAN, O94788
    Pathway: Cofactor metabolism; retinol metabolism


    ALDH1A2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including ALDH1A2: 

              Drug Metabolism: Phase I Enzymes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ALDH1A2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ALDH1A2 (O947883 ENSP000002497504) via UniProtKB, MINT, STRING, and/or I2D (see all 68)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBE2D4Q9Y2X83, ENSP000002224024I2D: score=1 STRING: ENSP00000222402
    ADH1AENSP000002096684STRING: ENSP00000209668
    ADH1BENSP000003066064STRING: ENSP00000306606
    ADH4ENSP000002655124STRING: ENSP00000265512
    ADH5ENSP000002964124STRING: ENSP00000296412
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 43):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001568blood vessel development IEA--
    GO:0001822kidney development IEA--
    GO:0001889liver development IEA--
    GO:0001936regulation of endothelial cell proliferation IEA--
    GO:0002138retinoic acid biosynthetic process ----

    ALDH1A2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for ALDH1A2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    WIN 18446ALDH1a2 inhibitor[1477-57-2]
    Alda 1ALDH2 activator; cardioprotective[349438-38-6]

    Selected HMDB Compounds for ALDH1A2 (see all 11)    About this table
    CompoundSynonyms CAS #PubMed Ids
    9-cis-Retinal9-cis-Retinal (see all 5)514-85-2--
    9-cis-Retinoic acidTretinoin [usan:ban:inn] (see all 69)----
    DecanalN-decaldehyde (see all 18)112-31-2--
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    Octanal1-Caprylaldehyde (see all 20)124-13-0--
    Propanal1-Propanal (see all 16)123-38-6--
    Retinal3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-Nonatetraenal (see all 19)116-31-4--
    Retinoic acidRetinoate (see all 21)302-79-4--

    4 DrugBank Compounds for ALDH1A2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    TretinoinAll Trans Retinoic Acid (see all 5)302-79-4target--15299009 15069081 15950969 15950488 15366004
    Vitamin A[11,12-3H]-Retinol (see all 18)68-26-8target--16982809 17098734 16538685 17270546 17184764
    NADHbeta-DPNH (see all 18)606-68-8target--10320326 17139284 17016423 11872149
    Nicotinamide-Adenine-Dinucleotide-- 53-84-9target--10592235

    6 Novoseek inferred chemical compound relationships for ALDH1A2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinaldehyde 95.6 29 11014218 (1), 12660332 (1), 15299009 (1), 8797830 (1) (see all 18)
    retinoic acid 86.1 108 12660332 (3), 11983430 (3), 11306068 (2), 15069081 (2) (see all 42)
    retinoid 84.3 11 11306068 (2), 18602384 (2), 19549509 (2), 15305858 (1) (see all 7)
    vitamin a 81.4 28 12660332 (2), 8663198 (2), 19016711 (1), 19171200 (1) (see all 13)
    citral 60.6 2 11983430 (1), 8663198 (1)
    acetaldehyde 31.5 1 8663198 (1)



    ALDH1A2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ALDH1A2 gene (4 alternative transcripts): 
    NM_001206897.1  NM_003888.3  NM_170696.2  NM_170697.2  

    Unigene Cluster for ALDH1A2:

    Aldehyde dehydrogenase 1 family, member A2
    Hs.643455  [show with all ESTs]
    Unigene Representative Sequence: AK128709
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000249750(uc002aew.3 uc002aex.3 uc010ugv.2 uc002aey.3 uc010ugw.2)
    ENST00000558384 ENST00000560312 ENST00000347587 ENST00000430119 ENST00000558231
    ENST00000559517 ENST00000560923 ENST00000559266 ENST00000561070 ENST00000558595
    ENST00000558239 ENST00000557967 ENST00000558073 ENST00000559297 ENST00000560122
    ENST00000560863 ENST00000558504
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ALDH1A2 (see all 31):
    hsa-miR-2052 hsa-miR-4307 hsa-miR-19b-2* hsa-miR-137 hsa-miR-449c* hsa-miR-340 hsa-miR-4267 hsa-miR-23a
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    GenScript: all cDNA clones in your preferred vector (see all 3): ALDH1A2 (NM_003888)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALDH1A2
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ALDH1A2
      QuantiTect SYBR Green Assays in human, mouse, rat ALDH1A2
      QuantiFast Probe-based Assays in human, mouse, rat ALDH1A2

    Additional mRNA sequence: 

    AB015226.1 AB015227.1 AB015228.1 AK128709.1 AK294981.1 AK303057.1 AL110299.1 AL137418.1 
    BC030589.2 

    10 DOTS entries:

    DT.100792543  DT.75102625  DT.211626  DT.100023019  DT.100792544  DT.100792545  DT.121059687  DT.121059836 
    DT.91718499  DT.121059835 

    Selected AceView cDNA sequences (see all 117):

    BU075634 BM508024 AW473884 AI990172 BF445889 BM722777 AA382933 BX341255 
    AI093838 AW305307 AI338004 CR601540 AI933504 AA382934 AI095502 AB015227 
    CD367094 AW263492 AI417803 AB015228 AI280408 CR597396 CB215586 BX443600 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for ALDH1A2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
    SP1:                                                                                    
    SP2:                                            -                                       


    ECgene alternative splicing isoforms for ALDH1A2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ALDH1A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTCCAAGTG
    ALDH1A2 Expression
    About this image


    ALDH1A2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 30) fully expand
     
     Neurons
             Lateral Motor Neurons Lumbar Lateral Motor Column
             Lateral motor column neuron-like cells
     
     Spinal Cord (Nervous System)    fully expand to see all 4 entries
             Lateral Motor Neurons Lumbar Lateral Motor Column
             Lateral motor column neuron-like cells
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Outflow Epicardial Progenitors Outflow Epicardium
     
     Motor Neurons (Nervous System)
             Lateral motor column neuron-like cells
     
     Neural Crest (Gastrulation Derivatives)
             PureStem MEL2, NCr-fac Progenitor
    ALDH1A2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALDH1A2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.643455
        Pathway & Disease-focused RT2 Profiler PCR Array including ALDH1A2: 
              Drug Metabolism: Phase I Enzymes in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ALDH1A2 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aldh1a21 , 5 aldehyde dehydrogenase family 1, subfamily A21, 5 90.22(n)1
    97.3(a)1
      9 (39.85 cM)5
    193781  NM_009022.41  NP_033048.21 
     712157895 
    chicken
    (Gallus gallus)
    Aves ALDH1A21 aldehyde dehydrogenase 1 family, member A2 83.03(n)
    95.79(a)
      395844  NM_204995.1  NP_990326.1 
    lizard
    (Anolis carolinensis)
    Reptilia ALDH1A26
    aldehyde dehydrogenase 1 family, member A2
    86(a)
    1 ↔ 1
    GL343573.1(273469-288435)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.89082 Xenopus laevis RALDH2 mRNA, complete cds 80.72(n)    AF310252.1 
    zebrafish
    (Danio rerio)
    Actinopterygii aldh1a22 aldehyde dehydrogenase 1 family, member A2 75.05(n)   116713  AF339837.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG37523 aldehyde dehydrogenase (NAD+) 64(a)   30B3   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ALD61 ALD6 53.8(n)
    47.26(a)
      856044   NP_015264.1 
    Alicante grape
    (Vitis vinifera)
    eudicotyledons Vvi.4652 Vitis vinifera transcribed sequence with moderate similarity more 70.47(n)    CD718252.1 
    barley
    (Hordeum vulgare)
    Liliopsida Hv.7272 Hordeum vulgare mRNA for mitochondrial aldehyde dehydrogenase more 71.62(n)    AB055519.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ALDH1A2 gene
    ALDH1L22  ALDH1A12  ENSG000002577672  ALDH1B12  ALDH7A12  ALDH6A12  ALDH22  ALDH8A12  
    ALDH9A12  ALDH1A32  ALDH1L12  
    13 SIMAP similar genes for ALDH1A2 using alignment to 5 protein entries:     AL1A2_HUMAN (see all proteins):
    RALDH2    ALDH2    ALDH1B1    ALDH1A1    ALDH1A3    ALDH1L1
    ALDH1L2    DKFZp686G1675    ALDH9A1    ALDH8A1    ALDH5A1    ALDH6A1
    ALDH7A1

    ALDH1A2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ALDH1A2 (see all 2960)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs724366631,2
    C--35087441(+) AAAAAAAGAC/
            
    AAGAC
    4 -- int11Minor allele frequency- -:0.50CSA 2
    rs46466141,2
    C--35087882(-) AACTA-/ACTA  
            
    TGCTA
    4 -- int10--------
    rs340683801,2
    C--35110372(+) GCTGC-/AAAAAA 4 -- int10--------
    rs341332631,2
    C--35122963(+) AAAAA-/AGCCAA 4 -- int10--------
    rs790772441,2
    C--35177870(+) CCATC-/ARKTTT 3 -- int10--------
    rs343070571,2
    C--38307349(-) GTGACC/TGTACT 4 -- ds50016Minor allele frequency- T:0.01NS WA 304
    rs46466451,2
    C,F,H--38307362(-) AAATCT/CGTAAA 4 -- ds500133Minor allele frequency- C:0.39NA NS EA CSA WA 3090
    rs1401892041,2
    C--38307427(+) CTTTG-/GTAA  
            
    GTAAG
    4 -- ds50010--------
    rs1438593531,2
    C--38307461(+) AATGC-/CATCATCA 4 -- cds10--------
    rs345798401,2
    F--38307464(-) TGCTG-/ATGATGGC 4 -- cds15Minor allele frequency- ATG:0.02NS 186

    HapMap Linkage Disequilibrium report for ALDH1A2 (58245622 - 58495622 bp, first 250kb of ALDH1A2)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ALDH1A2 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2749738CNV Deletion23290073
    dgv12e194CNV Deletion18987734
    esv2749739CNV Deletion23290073
    esv2533857CNV Deletion19546169
    esv1602894CNV Deletion17803354
    esv4077CNV Deletion18987735
    esv2658819CNV Deletion23128226
    nsv904263CNV Loss21882294
    nsv904262CNV Loss21882294
    dgv2388n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): ALDH1A2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ALDH1A2
    DNA2.0 Custom Variant and Variant Library Synthesis for ALDH1A2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603687    OMIM disorders: --

    Selected diseases for ALDH1A2 (see all 26):    
    About MalaCards
    hangover    partial fetal alcohol syndrome    fetal alcohol syndrome    alcohol-related birth defect
    alcohol-related neurodevelopmental disorder    spina bifida    congenital diaphragmatic hernia    retinitis
    digeorge syndrome    neural tube defects    pharyngitis    meningitis
    labyrinthitis    lymphoblastic leukemia    choroiditis    hypertension
    tuberculosis    ovarian cancer    endotheliitis    schizophrenia

    1 disease from the University of Copenhagen DISEASES database for ALDH1A2:
    Congenital diaphragmatic hernia

    ALDH1A2 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for ALDH1A2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    spina bifida 45.8 3 16237707 (2), 11953746 (1)

    Genetic Association Database (GAD): ALDH1A2
    Human Genome Epidemiology (HuGE) Navigator: ALDH1A2 (8 documents)

    Export disorders for ALDH1A2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ALDH1A2 gene, integrated from 10 sources (see all 91):
    (articles sorted by number of sources associating them with ALDH1A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. TAL1 and LIM-only proteins synergistically induce retinaldehyde dehydrogenase 2 expression in T-cell acute lymphoblastic leukemia by acting as cofactors for GATA3. (PubMed id 9819382)1, 2, 3 Ono Y.... Yoshie O. (Mol. Cell. Biol. 1998)
    2. ALDH1A2 (RALDH2) genetic variation in human congenital heart disease. (PubMed id 19886994)1, 4, 9 Pavan M....Xavier-Neto J. (BMC Med. Genet. 2009)
    3. Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2. (PubMed id 16237707)1, 4, 9 Deak K.L....Speer M.C. (Birth Defects Res. Part A Clin. Mol. Teratol. 2005)
    4. Positive association between ALDH1A2 and schizophrenia in the Chinese population. (PubMed id 19703508)1, 4, 9 Wan C....He L. (amp 2009)
    5. A human ALDH1A2 gene variant is associated with increased newborn kidney size and serum retinoic acid. (PubMed id 20375987)1, 4 El Kares R....Goodyer P. (Kidney Int. 2010)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    7. A genome-wide association study of hypertension and blood pressure in African Americans. (PubMed id 19609347)1, 4 Adeyemo A....Rotimi C. (PLoS Genet. 2009)
    8. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)1, 4 Saito A....Kamatani N. (J. Hum. Genet. 2009)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8854 HGNC: 15472 AceView: ALDH1A2 Ensembl:ENSG00000128918 euGenes: HUgn8854
    ECgene: ALDH1A2 Kegg: 8854 H-InvDB: ALDH1A2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ALDH1A2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ALDH1A2 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/aldh1a2/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ALDH1A2 gene:
    Search GeneIP for patents involving ALDH1A2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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