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ALDH1A2 aldehyde dehydrogenase 1 family member A2 [ Homo sapiens (human) ]

Gene ID: 8854, updated on 8-May-2016
Official Symbol
ALDH1A2provided by HGNC
Official Full Name
aldehyde dehydrogenase 1 family member A2provided by HGNC
Primary source
HGNC:HGNC:15472
See related
Ensembl:ENSG00000128918 HPRD:04733; MIM:603687; Vega:OTTHUMG00000132624
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RALDH2; RALDH2-T; RALDH(II)
Summary
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]
Orthologs
Location:
15q21.3
Exon count:
14
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 15 NC_000015.10 (57953424..58065923, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (58245622..58358121, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene GRINL1A complex locus 1 Neighboring gene uncharacterized LOC105370834 Neighboring gene polymerase (RNA) II subunit M Neighboring gene calponin 2 pseudogene Neighboring gene uncharacterized LOC102724683 Neighboring gene aquaporin 9 Neighboring gene ribosomal protein L28 pseudogene 4

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.
NHGRI GWA Catalog
A genome-wide association study of hypertension and blood pressure in African Americans.
NHGRI GWA Catalog
Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC26444

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3-chloroallyl aldehyde dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
3-chloroallyl aldehyde dehydrogenase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
aldehyde dehydrogenase (NAD) activity IBA
Inferred from Biological aspect of Ancestor
more info
 
retinal binding ISS
Inferred from Sequence or Structural Similarity
more info
 
retinal dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
retinal dehydrogenase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
retinal dehydrogenase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
9-cis-retinoic acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
anterior/posterior pattern specification IEA
Inferred from Electronic Annotation
more info
 
blood vessel development IEA
Inferred from Electronic Annotation
more info
 
cardiac muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
cellular response to retinoic acid IEA
Inferred from Electronic Annotation
more info
 
determination of bilateral symmetry IEA
Inferred from Electronic Annotation
more info
 
embryonic camera-type eye development IEA
Inferred from Electronic Annotation
more info
 
embryonic digestive tract development IEA
Inferred from Electronic Annotation
more info
 
embryonic forelimb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
face development IEA
Inferred from Electronic Annotation
more info
 
heart morphogenesis IEA
Inferred from Electronic Annotation
more info
 
hindbrain development IEA
Inferred from Electronic Annotation
more info
 
kidney development IEA
Inferred from Electronic Annotation
more info
 
liver development IEA
Inferred from Electronic Annotation
more info
 
lung development IEA
Inferred from Electronic Annotation
more info
 
midgut development IEA
Inferred from Electronic Annotation
more info
 
morphogenesis of embryonic epithelium IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
neural crest cell development IEA
Inferred from Electronic Annotation
more info
 
neural tube development IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
pancreas development IEA
Inferred from Electronic Annotation
more info
 
pituitary gland development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
proximal/distal pattern formation IEA
Inferred from Electronic Annotation
more info
 
regulation of endothelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
response to cytokine IDA
Inferred from Direct Assay
more info
PubMed 
response to estradiol IEA
Inferred from Electronic Annotation
more info
 
response to vitamin A IEA
Inferred from Electronic Annotation
more info
 
retinal metabolic process IEA
Inferred from Electronic Annotation
more info
 
retinoic acid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
retinoic acid receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
retinol metabolic process IEA
Inferred from Electronic Annotation
more info
 
ureter maturation IEA
Inferred from Electronic Annotation
more info
 
vitamin A metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
retinal dehydrogenase 2
Names
RALDH 2
aldehyde dehydrogenase 1 family, member A2
retinaldehyde-specific dehydrogenase type 2
NP_001193826.1
NP_003879.2
NP_733797.1
NP_733798.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012259.1 RefSeqGene

    Range
    4786..117285
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001206897.1NP_001193826.1  retinal dehydrogenase 2 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AA447978, AB015226, AK303057, BC030589, DB458699
    Consensus CDS
    CCDS55968.1
    UniProtKB/Swiss-Prot
    O94788
    Related
    ENSP00000438296, ENST00000537372
    Conserved Domains (1) summary
    cd07141
    Location:14491
    ALDH_F1AB_F2_RALDH1; NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like
  2. NM_003888.3NP_003879.2  retinal dehydrogenase 2 isoform 1

    See identical proteins and their annotated locations for NP_003879.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AA447978, AB015226, BC030589, DB458699
    Consensus CDS
    CCDS10163.1
    UniProtKB/Swiss-Prot
    O94788
    Related
    ENSP00000249750, OTTHUMP00000163462, ENST00000249750, OTTHUMT00000255869
    Conserved Domains (1) summary
    cd07141
    Location:32512
    ALDH_F1AB_F2_RALDH1; NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like
  3. NM_170696.2NP_733797.1  retinal dehydrogenase 2 isoform 2

    See identical proteins and their annotated locations for NP_733797.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AA447978, BC030589, DB458699
    Consensus CDS
    CCDS10164.1
    UniProtKB/Swiss-Prot
    O94788
    Related
    ENSP00000309623, OTTHUMP00000163463, ENST00000347587, OTTHUMT00000255870
    Conserved Domains (1) summary
    cd07141
    Location:32474
    ALDH_F1AB_F2_RALDH1; NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like
  4. NM_170697.2NP_733798.1  retinal dehydrogenase 2 isoform 3

    See identical proteins and their annotated locations for NP_733798.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AA447978, AB015226, BC030589, BX443600
    Consensus CDS
    CCDS45266.1
    UniProtKB/Swiss-Prot
    O94788
    Related
    ENSP00000453408, OTTHUMP00000247387, ENST00000559517, OTTHUMT00000416310
    Conserved Domains (1) summary
    cd07141
    Location:1416
    ALDH_F1AB_F2_RALDH1; NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p2 Primary Assembly

    Range
    57953424..58065923 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 Alternate CHM1_1.1

    Range
    58363582..58476117 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)