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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ALDH1A2 Gene

protein-coding   GIFtS: 68
GCID: GC15M058245

aldehyde dehydrogenase 1 family, member A2

 Explore 28 diseases affiliated with
ALDH1A2 via our new
 Human Malady Compendium 
Biological research products
for ALDH1A2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Aldehyde Dehydrogenase 1 Family, Member A21 2     RALDH2-T2
RALDH21 2 3 5     Retinal Dehydrogenase 22
Retinaldehyde-Specific Dehydrogenase Type 22 3     RalDH23
RALDH(II)2 3     Aldehyde Dehydrogenase Family 1 Member A23
RALDH 22 3     EC 1.2.18
EC 1.2.1.363 8     

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

Export aliases for ALDH1A2 gene to outside databases

Previous GC identifers: GC15M053802 GC15M051292 GC15M055824 GC15M055961 GC15M056032 GC15M035068


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ALDH1A2:
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)

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)

Gene Wiki entry for ALDH1A2


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.1  NT_010194.17  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ALDH1A2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: AL1A2_HUMAN, O94788 (See protein sequence)
Recommended Name: Retinal dehydrogenase 2  
Size: 518 amino acids; 56724 Da
Subunit: Homotetramer (By similarity)
Subcellular location: Cytoplasm
Sequence caution: Sequence=BAA34786.1; Type=Erroneous initiation; Sequence=BAA34787.1; Type=Erroneous initiation;
Secondary accessions: B3KY52 B4DZR2 F5H2Y9 Q2PJS6 Q8NHQ4 Q9UBR8 Q9UFY0
Alternative splicing: 3 isoforms:  O94788-1   O94788-2   O94788-3   (No experimental confirmation available)

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O94788

  • 4/30 DME Specific Peptides for ALDH1A2 (O94788) (see all 30)
     VYNPATG  TLELGGK  AQSPFGG  RHEPIGV 

    ALDH1A2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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  

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    Uscn Proteins for ALDH1A2

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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


    ALDH1A2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ALDH1A2 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR016162 Ald_DH_N
     IPR016163 Ald_DH_C
     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 family: IPB002086 Aldehyde dehydrogenase

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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)
    Catalytic activity: Retinal + NAD(+) + H(2)O = retinoate + NADH

    Enzyme Numbers (IUBMB): EC 1.2.1.361 2 EC 1.2.12

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    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
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001758retinal dehydrogenase activity ISS--
    GO:00040283-chloroallyl aldehyde dehydrogenase activity ISS--
    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


    Animal Models:
         Mouse knock-outs for ALDH1A2: Aldh1a2tm1Ipc Aldh1a2tm1Soc Aldh1a2tm1Gdu
         15/19 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Aldh1a2) (see all 19):
     cardiovascular system  cellular  craniofacial  embryogenesis  endocrine/exocrine gland 
     growth/size  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system 
     limbs/digits/tail  mortality/aging  muscle  nervous system  normal 

    ALDH1A2 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Retinol metabolism
    Retinol metabolism1.00
    Retinol metabolism0.95
    2Vitamin A and carotenoid metabolism
    Vitamin A and carotenoid metabolism1.00
    3Tryptophan metabolism
    Tryptophan metabolism1.00
    4Drug metabolism - cytochrome P450
    Retinol metabolism0.40
    5Metabolism
    Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for ALDH1A2
        Retinol metabolism


    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ALDH1A2

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

    5/55 Interacting proteins for ALDH1A2 (O947883 ENSP000002497504) via UniProtKB, MINT, STRING, and/or I2D (see all 55)

    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): 5/40 biological process terms (GO ID links to tree view) (see all 40):    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:0003007heart morphogenesis IEA--


    ALDH1A2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ALDH1A2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ALDH1A2

    10/11 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 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)

    Search CenterWatch for drugs/clinical trials and news about ALDH1A2 / AL1A2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    18/25 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

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    Additional cDNA 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 

    24/117 AceView cDNA sequences (see all 117):

    CR597396 NM_170697 AA382933 BM722777 CD367094 BM508024 AI933504 CB215586 
    AI093838 AW473884 AB015228 BQ012998 AB015227 AW305307 AW263492 BX443600 
    AA382934 AI401469 CR601540 AI280408 BX341255 BU075634 AI990172 BF445889 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ALDH1A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTCCAAGTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    ALDH1A2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/23 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 23
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartEpicardiumEpicardial Progenitors CellsEpicardium
    HeartInflow TractInflow ProgenitorsMyocardium
    HeartOutflow EpicardiumOutflow Epicardial ProgenitorsEpicardium
    Spinal CordCaudal Brachial Lateral Motor ColumnLateral Motor NeuronsMotor Neurons
    Spinal CordLumbar Lateral Motor ColumnLateral Motor NeuronsMotor Neurons
    Spinal CordRostral Brachial Lateral Motor ColumnLateral Motor NeuronsMotor Neurons
    BrainAnterior MeningesMeningeal CellsMeninges
    BrainChoroid PlexusMature Choroid Plexus CellsChoroid Plexus
    EyeRetinal Pigmented EpitheliumRetinal Pigmented Epithelium Progenitor CellsRetinal Pigmented Epithelium
    Lateral Plate MesodermEmbryonic Capillary PlexusAngioblastsEndothelium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    Beating cell clusters (Spontaneous differen...)

    See ALDH1A2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ALDH1A2

    SOURCE GeneReport for Unigene cluster: Hs.643455
        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for ALDH1A2 gene from 9/31 species (see all 31)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    --
    86(a)
    1 ↔ 1
    GL343573.1(273469-287410)
    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 Ald6p 53.8(n)
    47.26(a)
      856044   NP_015264.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ALDH2B46
    ALDH2B76
    (see all 5)
    aldehyde dehydrogenase 2B7
    (see all 5)
    52(a)
    51(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    3(17716867-17720020)
    1(8412051-8414879)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 7)
    aldehyde dehydrogenase, putative, expressed
    (see all 7)
    53(a)
    51(a)
    (see all 7)
    many ↔ many
    many ↔ many
    (see all 7)
    6(23288527-23291318)
    1(23096212-23105259)
    E. coli
    (Escherichia coli)
    Gamma proteobacteria aldB6
    aldehyde dehydrogenase B
    39(a)
    possible ortholog
    Chromosome(3752996-3754534)


    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)
    About This Section
    Paralogs for ALDH1A2 gene
    ALDH1L22  ALDH1A12  ENSG000002577672  ALDH1B12  ALDH7A12  ALDH22  ALDH16A12  ALDH8A12  
    ALDH9A12  ALDH1L12  ALDH1A32  
    13 SIMAP similar genes for ALDH1A2 using alignment to 6 protein entries:     AL1A2_HUMAN (see all proteins):
    RALDH2    ALDH1A1    ALDH1B1    ALDH2    ALDH1A3    DKFZp686G1675
    ALDH1L1    ALDH1L2    ALDH9A1    ALDH8A1    ALDH5A1    ALDH6A1
    ALDH7A1

    ALDH1A2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2483 NCBI SNPs in ALDH1A2 are shown (see all 2483    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs343070571,2
    C,--35068218(-) GTGACC/TGTACT 4 -- ds50016Minor allele frequency- T:0.01NS WA 304
    rs345798401,2
    F--35068334(-) TGCTG-/ATGATGGC 4 -- ds50015Minor allele frequency- ATG:0.02NS 186
    rs798411211,2
    C,F,--35068664(+) TCAGTA/GTGACC 4 -- ds50011Minor allele frequency- G:0.02NA 120
    rs788037741,2
    --35068710(+) AGTACA/CCAATA 4 -- ut311Minor allele frequency- C:0.01WA 118
    rs358978841,2
    C,--35068801(-) CCTTTG/AGACTG 4 -- ut315Minor allele frequency- A:0.01NS 190
    rs356116001,2
    C,F,H,--35068905(-) GTGCCG/ATGAGC 4 -- ut3113Minor allele frequency- A:0.02NS NA WA 1198
    rs1126287061,2
    --35069004(+) TGGTAC/TGGTTA 4 -- ut311Minor allele frequency- T:0.50CSA 2
    rs345995711,2
    C--35069108(-) CCTAAA/GTGCAG 4 -- ut317Minor allele frequency- G:0.00NS NA 194
    rs360753271,2
    C,--35069287(-) AGGCCA/GTGGCC 4 -- ut316Minor allele frequency- G:0.01NS NA 310
    rs354371201,2
    C,F,--35069313(-) CACCCC/TATTCT 4 -- ut317Minor allele frequency- T:0.03NS CSA WA 310

    HapMap Linkage Disequilibrium report for ALDH1A2 (58245622 - 58495622 bp, first 250kb of ALDH1A2)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for ALDH1A2
         1 CNV: 102109
         5 Indels: 45350 41386 45349 40101 25534
    Human Gene Mutation Database (HGMD): ALDH1A2

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    (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.)
    About This Section

    ALDH1A2 for disorders           About GeneDecksing

    OMIM gene information: 603687    OMIM disorders: --

    20/28 diseases for ALDH1A2 (see all 28):    About MalaCards
    spina bifida    alcohol-related birth defect    alcohol-related neurodevelopmental disorder    partial fetal alcohol syndrome
    retinol binding protein    neural tube defect    congenital diaphragmatic hernia    birth defects
    retinitis    fetal alcohol syndrome    acute lymphoblastic leukemia    hernia
    digeorge syndrome    lymphoblastic leukemia    alcoholism    embryonal carcinoma
    ovarian cancer    pharyngitis    leukemia    prostate cancer

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

    1 Novoseek 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)
    About This Section

    PubMed articles for ALDH1A2 gene, integrated from 9 sources (see all 88):
    (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. (1998)
    2. 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. (2005)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. 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. (2004)
    5. ALDH1A2 (RALDH2) genetic variation in human congenita l heart disease. (PubMed id 19886994)1, 9 Pavan M....Xavier-Neto J. (2009)
    6. Cloning of a cDNA encoding an aldehyde dehydrogenase and its expression in Escherichia coli. Recognition of retinal as substrate. (PubMed id 8663198)1, 9 Wang X....Napoli J.L. (1996)
    7. Positive association between ALDH1A2 and schizophreni a in the Chinese population. (PubMed id 19703508)1, 9 Wan C....He L. (2009)
    8. Human basophils activated by mast cell-derived IL-3 express retinaldehyde dehydrogenase-II and produce the immunoregulatory mediator retinoic acid. (PubMed id 18495959)1, 9 Spiegl N....Dahinden C.A. (2008)
    9. Retinoic acid synthesis controlled by Raldh2 is required early for limb bud initiation and then later as a proximodistal signal during apical ectodermal ridge formation. (PubMed id 15069081)7, 9 Mic F.A....Duester G. (2004)
    10. Molecular identification of a major retinoic-acid-synthesizing enzyme, a retinaldehyde-specific dehydrogenase. (PubMed id 8797830)1, 9 Zhao D....Drager U.C. (1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 8854 HGNC: 15472 AceView: ALDH1A2 Ensembl:ENSG00000128918 euGenes: HUgn8854
    ECgene: ALDH1A2 Kegg: 8854 H-InvDB: ALDH1A2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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