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

Gene ID: 8854, updated on 17-Oct-2021

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
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Genomic context

See ALDH1A2 in Genome Data Viewer
Location:
15q21.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (57953429..58065711, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (58245627..58357909, 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 ALDH1A2 antisense RNA 1 Neighboring gene MT-CO3 pseudogene 23 Neighboring gene MT-ND3 pseudogene 12 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.
GeneReviews: Not available
A genome-wide association study of hypertension and blood pressure in African Americans.
GeneReviews: Not available
Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31.
GeneReviews: Not available

Pathways from PubChem

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
enables 3-chloroallyl aldehyde dehydrogenase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables aldehyde dehydrogenase (NAD+) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables retinal binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables retinal dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables retinal dehydrogenase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in 9-cis-retinoic acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in blood vessel development IEA
Inferred from Electronic Annotation
more info
 
involved_in cardiac muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to retinoic acid IEA
Inferred from Electronic Annotation
more info
 
involved_in determination of bilateral symmetry IEA
Inferred from Electronic Annotation
more info
 
involved_in embryonic camera-type eye development IEA
Inferred from Electronic Annotation
more info
 
involved_in embryonic digestive tract development IEA
Inferred from Electronic Annotation
more info
 
involved_in embryonic forelimb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in face development IEA
Inferred from Electronic Annotation
more info
 
involved_in heart morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in hindbrain development IEA
Inferred from Electronic Annotation
more info
 
involved_in kidney development IEA
Inferred from Electronic Annotation
more info
 
involved_in liver development IEA
Inferred from Electronic Annotation
more info
 
involved_in lung development IEA
Inferred from Electronic Annotation
more info
 
involved_in midgut development IEA
Inferred from Electronic Annotation
more info
 
involved_in morphogenesis of embryonic epithelium IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in neural crest cell development IEA
Inferred from Electronic Annotation
more info
 
involved_in neural tube development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in pancreas development IEA
Inferred from Electronic Annotation
more info
 
involved_in pituitary gland development IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in protein homotetramerization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in proximal/distal pattern formation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of endothelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in response to cytokine IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to estradiol IEA
Inferred from Electronic Annotation
more info
 
involved_in response to vitamin A IEA
Inferred from Electronic Annotation
more info
 
involved_in retinal metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in retinoic acid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in retinoic acid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in retinoic acid receptor signaling pathway involved in somitogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in retinol metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in ureter maturation IEA
Inferred from Electronic Annotation
more info
 
involved_in vitamin A metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in 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)

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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
    4998..117280
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001206897.2NP_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 Updated Annotation Release 109.20210514

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
    57953429..58065711 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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