Human Gene ALDH1A2 (ENST00000559517.5) from GENCODE V44
  Description: Homo sapiens aldehyde dehydrogenase 1 family member A2 (ALDH1A2), transcript variant 3, mRNA. (from RefSeq NM_170697)
RefSeq Summary (NM_170697): 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].
Gencode Transcript: ENST00000559517.5
Gencode Gene: ENSG00000128918.15
Transcript (Including UTRs)
   Position: hg38 chr15:57,955,167-58,014,101 Size: 58,935 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg38 chr15:57,955,197-58,013,932 Size: 58,736 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:57,955,167-58,014,101)mRNA (may differ from genome)Protein (422 aa)
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AL1A2_HUMAN
DESCRIPTION: RecName: Full=Retinal dehydrogenase 2; Short=RALDH 2; Short=RalDH2; EC=1.2.1.36; AltName: Full=Aldehyde dehydrogenase family 1 member A2; AltName: Full=Retinaldehyde-specific dehydrogenase type 2; Short=RALDH(II);
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.
PATHWAY: Cofactor metabolism; retinol metabolism.
SUBUNIT: Homotetramer (By similarity).
SUBCELLULAR LOCATION: Cytoplasm.
SIMILARITY: Belongs to the aldehyde dehydrogenase family.
SEQUENCE CAUTION: Sequence=BAA34786.1; Type=Erroneous initiation; Sequence=BAA34787.1; Type=Erroneous initiation;
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/aldh1a2/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ALDH1A2
Diseases sorted by gene-association score: congenital diaphragmatic hernia (8), diaphragm disease (6), neural tube defects (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.69 RPKM in Testis
Total median expression: 148.64 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -41.70169-0.247 Picture PostScript Text
3' UTR -1.7030-0.057 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016161 - Ald_DH/histidinol_DH
IPR016163 - Ald_DH_C
IPR016160 - Ald_DH_CS
IPR016162 - Ald_DH_N
IPR015590 - Aldehyde_DH_dom

Pfam Domains:
PF00171 - Aldehyde dehydrogenase family

ModBase Predicted Comparative 3D Structure on O94788
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001758 retinal dehydrogenase activity
GO:0004028 3-chloroallyl aldehyde dehydrogenase activity
GO:0004029 aldehyde dehydrogenase (NAD) activity
GO:0016491 oxidoreductase activity
GO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor
GO:0016918 retinal binding

Biological Process:
GO:0001568 blood vessel development
GO:0001822 kidney development
GO:0001889 liver development
GO:0001936 regulation of endothelial cell proliferation
GO:0002138 retinoic acid biosynthetic process
GO:0003007 heart morphogenesis
GO:0006776 vitamin A metabolic process
GO:0007494 midgut development
GO:0008152 metabolic process
GO:0008284 positive regulation of cell proliferation
GO:0008285 negative regulation of cell proliferation
GO:0009855 determination of bilateral symmetry
GO:0009952 anterior/posterior pattern specification
GO:0009954 proximal/distal pattern formation
GO:0010628 positive regulation of gene expression
GO:0014032 neural crest cell development
GO:0016331 morphogenesis of embryonic epithelium
GO:0021915 neural tube development
GO:0021983 pituitary gland development
GO:0030182 neuron differentiation
GO:0030324 lung development
GO:0030326 embryonic limb morphogenesis
GO:0030900 forebrain development
GO:0030902 hindbrain development
GO:0031016 pancreas development
GO:0031076 embryonic camera-type eye development
GO:0032355 response to estradiol
GO:0033189 response to vitamin A
GO:0034097 response to cytokine
GO:0035115 embryonic forelimb morphogenesis
GO:0035799 ureter maturation
GO:0042572 retinol metabolic process
GO:0042573 retinoic acid metabolic process
GO:0042574 retinal metabolic process
GO:0042904 9-cis-retinoic acid biosynthetic process
GO:0043010 camera-type eye development
GO:0043065 positive regulation of apoptotic process
GO:0048384 retinoic acid receptor signaling pathway
GO:0048566 embryonic digestive tract development
GO:0048738 cardiac muscle tissue development
GO:0055114 oxidation-reduction process
GO:0060324 face development
GO:0071300 cellular response to retinoic acid
GO:0090242 retinoic acid receptor signaling pathway involved in somitogenesis

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AK128709 - Homo sapiens cDNA FLJ46876 fis, clone UTERU3014611, highly similar to Retinal dehydrogenase 2 (EC 1.2.1.36).
BC030589 - Homo sapiens aldehyde dehydrogenase 1 family, member A2, mRNA (cDNA clone MGC:26444 IMAGE:4826743), complete cds.
AK303057 - Homo sapiens cDNA FLJ59801 complete cds, highly similar to Retinal dehydrogenase 2 (EC 1.2.1.36).
AK294981 - Homo sapiens cDNA FLJ55560 complete cds, highly similar to Retinal dehydrogenase 2 (EC 1.2.1.36).
AB015226 - Homo sapiens mRNA for RALDH2, complete cds.
KJ897921 - Synthetic construct Homo sapiens clone ccsbBroadEn_07315 ALDH1A2 gene, encodes complete protein.
DQ891568 - Synthetic construct clone IMAGE:100004198; FLH178211.01X; RZPDo839A07128D aldehyde dehydrogenase 1 family, member A2 (ALDH1A2) gene, encodes complete protein.
DQ894760 - Synthetic construct Homo sapiens clone IMAGE:100009220; FLH178207.01L; RZPDo839A07127D aldehyde dehydrogenase 1 family, member A2 (ALDH1A2) gene, encodes complete protein.
CU688924 - Synthetic construct Homo sapiens gateway clone IMAGE:100019603 5' read ALDH1A2 mRNA.
AL110299 - Homo sapiens mRNA; cDNA DKFZp434N221 (from clone DKFZp434N221).
AL110274 - Homo sapiens mRNA; cDNA DKFZp564I0272 (from clone DKFZp564I0272).
AB015228 - Homo sapiens mRNA for RALDH2-T, complete cds.
JD087611 - Sequence 68635 from Patent EP1572962.
JD062654 - Sequence 43678 from Patent EP1572962.
AB015227 - Homo sapiens mRNA for RALDH2-T, complete cds.
DQ574079 - Homo sapiens piRNA piR-42191, complete sequence.
JD167074 - Sequence 148098 from Patent EP1572962.
JD417395 - Sequence 398419 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00830 - Retinol metabolism
hsa01100 - Metabolic pathways

Reactome (by CSHL, EBI, and GO)

Protein O94788 (Reactome details) participates in the following event(s):

R-HSA-5362522 ALDHs oxidise atRAL to atRA
R-HSA-5365859 RA biosynthesis pathway
R-HSA-5362517 Signaling by Retinoic Acid
R-HSA-9006931 Signaling by Nuclear Receptors
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: AL1A2_HUMAN, B3KY52, B4DZR2, ENST00000559517.1, ENST00000559517.2, ENST00000559517.3, ENST00000559517.4, F5H2Y9, NM_170697, O94788, Q2PJS6, Q8NHQ4, Q9UBR8, Q9UFY0, RALDH2, uc002aew.1, uc002aew.2, uc002aew.3, uc002aew.4
UCSC ID: ENST00000559517.5
RefSeq Accession: NM_170697
Protein: O94788 (aka AL1A2_HUMAN or DHA2_HUMAN)
CCDS: CCDS45266.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.