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

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; AllianceGenome:HGNC:15472
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: DIH4; 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: mouse all
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Genomic context

Location:: 15q21.3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (57953429..58065711, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (55755851..55868018, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (58245627..58357909, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A functional variant of ALDH1A2 is associated with hand osteoarthritis in the Chinese population.
Title: A functional variant of ALDH1A2 is associated with hand osteoarthritis in the Chinese population.
ALDH1A2-related disorder: A new genetic syndrome due to alteration of the retinoic acid pathway.
Title: ALDH1A2-related disorder: A new genetic syndrome due to alteration of the retinoic acid pathway.
An eQTL variant of ALDH1A2 is associated with Kashin-Beck disease in Chinese population.
Title: An eQTL variant of ALDH1A2 is associated with Kashin-Beck disease in Chinese population.
The Presence and Potential Role of ALDH1A2 in the Glioblastoma Microenvironment.
Title: The Presence and Potential Role of ALDH1A2 in the Glioblastoma Microenvironment.
Peanut protein acts as a TH2 adjuvant by inducing RALDH2 in human antigen-presenting cells.
Title: Peanut protein acts as a T(H)2 adjuvant by inducing RALDH2 in human antigen-presenting cells.
ALDH1A2 and ALDH1A3 showed higher catalytic efficiency for all-trans-retinaldehyde. Magnesium inhibited ALDH1A1 and ALDH1A2, while it activated ALDH1A3.
Title: Structural and kinetic features of aldehyde dehydrogenase 1A (ALDH1A) subfamily members, cancer stem cell markers active in retinoic acid biosynthesis.
The ALDH1A2 locus seems to increase the risk of hand osteoarthritis through decreased expression of ALDH1A2 in joint tissues, with the effect dependent on single-nucleotide polymorphism rs12915901.
Title: Functional Characterization of the Osteoarthritis Genetic Risk Residing at ALDH1A2 Identifies rs12915901 as a Key Target Variant.
The authors findings indicate that the SNP rs4238326 in ALDH1A2 gene may potentially modify individual susceptibility to knee OA in the Chinese population.
Title: The rs4238326 polymorphism in ALDH1A2 gene potentially associated with non-post traumatic knee osteoarthritis susceptibility: a two-stage population-based study.
high transcription activities of ALDH1A2, ALDH1A3 and ALDH1L1 predicted worsen overall survival in gastric cancer patients
Title: Mining distinct aldehyde dehydrogenase 1 (ALDH1) isoenzymes in gastric cancer.
Data show that hRALDH2 is not inhibited by its oxidation product, all-trans-RA, suggesting the absence of a negative feedback regulatory loop. Expression of the Raldh2 gene is known to be regulated by RA itself, suggesting that the main regulation of the hRALDH2 activity level is transcriptional.
Title: Kinetic characterization and regulation of the human retinaldehyde dehydrogenase 2 enzyme during production of retinoic acid.

Submit: New GeneRIF Correction See all GeneRIFs (34)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Diaphragmatic hernia 4, with cardiovascular defects MedGen: C5774210 OMIM: 620025 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study of hypertension and blood pressure in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH123050 (e-PCR)
- UniSTS:135443

SHGC-79179 (e-PCR)
- UniSTS:102724

G17842 (e-PCR)
- UniSTS:9542

Aldh1a2 (e-PCR), detects polymorphism
- UniSTS:186489

STS-AA036780 (e-PCR)
- UniSTS:19679

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
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 anterior/posterior pattern specification	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 cell population proliferation	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 vascular 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 retinoic acid	IMP Inferred from Mutant Phenotype more info	PubMed
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 biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retinoic acid metabolic process	IMP Inferred from Mutant Phenotype 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	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

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Preferred Names: retinal dehydrogenase 2

Names: RALDH 2; retinaldehyde-specific dehydrogenase type 2

NP_001193826.1

EC 1.2.1.36

NP_003879.2

EC 1.2.1.36

NP_733797.1

EC 1.2.1.36

NP_733798.1

EC 1.2.1.36

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

NG_012259.1 RefSeqGene

Range

4998..117280

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001206897.2 → NP_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/TrEMBL

H0YMG7

Related

ENSP00000438296.1, ENST00000537372.5

Conserved Domains (1) summary

cd07141
Location:14 → 491

ALDH_F1AB_F2_RALDH1; NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like
NM_003888.4 → NP_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

B3KY52, B4DZR2, F5H2Y9, H0YM00, O94788, Q2PJS6, Q8NHQ4, Q9UBR8, Q9UFY0

UniProtKB/TrEMBL

H0YMG7

Related

ENSP00000249750.4, ENST00000249750.9

Conserved Domains (1) summary

cd07141
Location:32 → 512

ALDH_F1AB_F2_RALDH1; NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like
NM_170696.3 → NP_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/TrEMBL

H0YMG7

Related

ENSP00000309623.3, ENST00000347587.7

Conserved Domains (1) summary

cd07141
Location:32 → 474

ALDH_F1AB_F2_RALDH1; NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like
NM_170697.3 → NP_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/TrEMBL

H0YMG7

Related

ENSP00000453408.1, ENST00000559517.5

Conserved Domains (1) summary

cd07141
Location:1 → 416

ALDH_F1AB_F2_RALDH1; NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like