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

Gene ID: 8854, updated on 7-Jul-2019

Summary

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 MIM:603687
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]
Expression
Biased expression in endometrium (RPKM 50.6), testis (RPKM 38.7) and 8 other tissues See more
Orthologs

Genomic context

See ALDH1A2 in Genome Data Viewer
Location:
15q21.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 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 uncharacterized LOC105370834 Neighboring gene uncharacterized LOC107984724 Neighboring gene calponin 2 pseudogene Neighboring gene uncharacterized LOC283665 Neighboring gene MT-ND4L pseudogene 23 Neighboring gene MT-ND6 pseudogene 23 Neighboring gene aquaporin 9

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC26444

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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
PubMed 
retinal binding ISS
Inferred from Sequence or Structural Similarity
more info
 
retinal dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
retinal dehydrogenase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
9-cis-retinoic acid biosynthetic process 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
 
protein homotetramerization IDA
Inferred from Direct Assay
more info
PubMed 
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 biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
retinoic acid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
retinoic acid receptor signaling pathway involved in somitogenesis 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
 

General protein information

Preferred Names
retinal dehydrogenase 2
Names
RALDH 2
retinaldehyde-specific dehydrogenase type 2
NP_001193826.1
NP_003879.2
NP_733797.1
NP_733798.1

NCBI Reference Sequences (RefSeq)

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
    ENSP00000438296.1, ENST00000537372.5
    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_003888.4NP_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
    ENSP00000249750.4, ENST00000249750.9
    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_170696.3NP_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
    ENSP00000309623.3, ENST00000347587.7
    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_170697.3NP_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
    ENSP00000453408.1, ENST00000559517.5
    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 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

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