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ALDH3A2 aldehyde dehydrogenase 3 family member A2 [ Homo sapiens (human) ]

Gene ID: 224, updated on 14-Nov-2024

Summary

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Official Symbol
ALDH3A2provided by HGNC
Official Full Name
aldehyde dehydrogenase 3 family member A2provided by HGNC
Primary source
HGNC:HGNC:403
See related
Ensembl:ENSG00000072210 MIM:609523; AllianceGenome:HGNC:403
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
SLS; FALDH; ALDH10
Summary
Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Broad expression in skin (RPKM 108.4), adrenal (RPKM 94.0) and 22 other tissues See more
Orthologs
all
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Genomic context

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See ALDH3A2 in Genome Data Viewer
Location:
17p11.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (19648136..19677596)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (19596758..19626215)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (19551449..19580909)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene MT-CO1 pseudogene 39 Neighboring gene SLC47A1 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11859 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:19550219-19550869 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:19550870-19551519 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8297 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11860 Neighboring gene uncharacterized LOC124900397 Neighboring gene NANOG hESC enhancer GRCh37_chr17:19567261-19567762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19584163-19584664 Neighboring gene solute carrier family 47 member 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:19609675-19610312 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:19610313-19610950 Neighboring gene uncharacterized LOC124903948 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19619375-19620224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19620225-19621072 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19648320-19649287 Neighboring gene aldehyde dehydrogenase 3 family member A1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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?
  1. Inhibit ALDH3A2 reduce ovarian cancer cells survival via elevating ferroptosis sensitivity.
    Title: Inhibit ALDH3A2 reduce ovarian cancer cells survival via elevating ferroptosis sensitivity.
  2. Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjogren-Larsson syndrome patients.
    Title: Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren-Larsson syndrome patients.
  3. Macular crystalline inclusions in Sjogren-Larsson syndrome are dynamic structures that undergo remodeling.
    Title: Macular crystalline inclusions in Sjögren-Larsson syndrome are dynamic structures that undergo remodeling.
  4. Sjogren-Larsson Syndrome: A case series of five members from an extended family with a novel mutation.
    Title: Sjogren-Larsson Syndrome: A case series of five members from an extended family with a novel mutation.
  5. Identification of ALDH3A2 as a novel prognostic biomarker in gastric adenocarcinoma using integrated bioinformatics analysis.
    Title: Identification of ALDH3A2 as a novel prognostic biomarker in gastric adenocarcinoma using integrated bioinformatics analysis.
  6. Comprehensive in silico screening and molecular dynamics studies of missense mutations in Sjogren-Larsson syndrome associated with the ALDH3A2 gene.
    Title: Comprehensive in silico screening and molecular dynamics studies of missense mutations in Sjogren-Larsson syndrome associated with the ALDH3A2 gene.
  7. We have established a patient-centered database for pathogenic variants in the ALDH3A2 gene, which contains both, genotype information for individual patients as well as clinical data.
    Title: Genotype and phenotype variability in Sjögren-Larsson syndrome.
  8. Study from seven unrelated Egyptian pedigrees with Sjogren-Larsson syndrome revealed a novel pathogenic variant in the ALDH3A2 gene including one novel stop codon mutation; c.991G>T (p.E331X) and suggested a founder effect.
    Title: Genetic assessment of ten Egyptian patients with Sjögren-Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation.
  9. Phenotypic and mutational spectrum of thirty-five patients with Sjogren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects.
    Title: Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects.
  10. recruitment of the forkhead protein FOXH1 on open chromatin regions integrates the signals of Activin/Smad2 and Wnt/beta-catenin to activate the expression of the ME genes including HAS2 and ALDH3A2 Consistently, H3K27me3 decrease is enriched on open chromatin around regulatory regions
    Title: Activin/Smad2 and Wnt/β-catenin up-regulate HAS2 and ALDH3A2 to facilitate mesendoderm differentiation of human embryonic stem cells.
Submit: New GeneRIF Correction See all GeneRIFs (35)

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
Sjogren-Larsson syndrome
MedGen: C0037231 OMIM: 270200 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ20851, DKFZp686E23276

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 3-chloroallyl aldehyde dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables aldehyde dehydrogenase (NAD+) activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables aldehyde dehydrogenase (NAD+) activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables aldehyde dehydrogenase (NAD+) activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables long-chain fatty aldehyde dehydrogenase (NAD+) activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables long-chain-alcohol oxidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables medium-chain fatty aldehyde dehydrogenase (NAD+) activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in aldehyde metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in aldehyde metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in aldehyde metabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in central nervous system development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in epidermis development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in fatty acid metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in hexadecanal metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in peripheral nervous system development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in phytol metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in sesquiterpenoid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 PubMed 
located_in peroxisomal membrane TAS
Traceable Author Statement
more info
  
located_in peroxisome IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
aldehyde dehydrogenase family 3 member A2
Names
aldehyde dehydrogenase 10
fatty aldehyde dehydrogenase
microsomal aldehyde dehydrogenase
NP_000373.1
NP_001026976.1
NP_001356065.1
NP_001356066.1
NP_001356067.1
NP_001356068.1
NP_001356075.1
NP_001356077.1
XP_024306419.1
XP_047291578.1
XP_054171453.1
XP_054171454.1

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_007095.2 RefSeqGene

    Range
    5001..33846
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000382.3 → NP_000373.1  aldehyde dehydrogenase family 3 member A2 isoform 2

    See identical proteins and their annotated locations for NP_000373.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate segment in the 3' coding region compared to variant 1. Isoform 2 has a shorter and different C-terminus, compared to isoform 1.
    Source sequence(s)
    AB208894, AC005722, AK123877, AK292381, DB261079
    Consensus CDS
    CCDS11210.1
    UniProtKB/Swiss-Prot
    P51648, Q6I9T3, Q93011, Q96J37
    UniProtKB/TrEMBL
    Q59H65
    Related
    ENSP00000176643.6, ENST00000176643.11
    Conserved Domains (1) summary
    cd07132
    Location:5 → 444
    ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins

  2. NM_001031806.2 → NP_001026976.1  aldehyde dehydrogenase family 3 member A2 isoform 1

    See identical proteins and their annotated locations for NP_001026976.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC005722, AK123877, BC002430, BG699030
    Consensus CDS
    CCDS32589.1
    UniProtKB/TrEMBL
    A0A5F9ZGX4
    Related
    ENSP00000345774.4, ENST00000339618.8
    Conserved Domains (1) summary
    cd07132
    Location:5 → 444
    ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins

  3. NM_001369136.1 → NP_001356065.1  aldehyde dehydrogenase family 3 member A2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC005722, AC115989
    Consensus CDS
    CCDS32589.1
    UniProtKB/TrEMBL
    A0A5F9ZGX4
    Conserved Domains (1) summary
    cd07132
    Location:5 → 444
    ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins

  4. NM_001369137.2 → NP_001356066.1  aldehyde dehydrogenase family 3 member A2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC005722, AC115989
    Consensus CDS
    CCDS32589.1
    UniProtKB/TrEMBL
    A0A5F9ZGX4
    Conserved Domains (1) summary
    cd07132
    Location:5 → 444
    ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins

  5. NM_001369138.2 → NP_001356067.1  aldehyde dehydrogenase family 3 member A2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC005722, AC115989
    Consensus CDS
    CCDS11210.1
    UniProtKB/Swiss-Prot
    P51648, Q6I9T3, Q93011, Q96J37
    UniProtKB/TrEMBL
    Q59H65
    Related
    ENSP00000461916.2, ENST00000581518.6
    Conserved Domains (1) summary
    cd07132
    Location:5 → 444
    ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins

  6. NM_001369139.1 → NP_001356068.1  aldehyde dehydrogenase family 3 member A2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC005722, AC115989
    Consensus CDS
    CCDS11210.1
    UniProtKB/Swiss-Prot
    P51648, Q6I9T3, Q93011, Q96J37
    UniProtKB/TrEMBL
    Q59H65
    Related
    ENSP00000500092.1, ENST00000672357.1
    Conserved Domains (1) summary
    cd07132
    Location:5 → 444
    ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins

  7. NM_001369146.2 → NP_001356075.1  aldehyde dehydrogenase family 3 member A2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC005722, AC115989
    UniProtKB/TrEMBL
    A0A5F9ZHI5
    Related
    ENSP00000500380.1, ENST00000673136.1
    Conserved Domains (1) summary
    cl11961
    Location:5 → 403
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

  8. NM_001369148.2 → NP_001356077.1  aldehyde dehydrogenase family 3 member A2 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC005722, AC115989
    UniProtKB/TrEMBL
    Q68D64
    Conserved Domains (1) summary
    cl11961
    Location:1 → 251
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    19648136..19677596
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047435622.1 → XP_047291578.1  aldehyde dehydrogenase family 3 member A2 isoform X1

    Related
    ENSP00000500777.1, ENST00000672567.1

  2. XM_024450651.2 → XP_024306419.1  aldehyde dehydrogenase family 3 member A2 isoform X2

    UniProtKB/TrEMBL
    Q68D64
    Conserved Domains (1) summary
    cl11961
    Location:1 → 251
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    19596758..19626215
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315478.1 → XP_054171453.1  aldehyde dehydrogenase family 3 member A2 isoform X1

  2. XM_054315479.1 → XP_054171454.1  aldehyde dehydrogenase family 3 member A2 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P51648.1 GenPept UniProtKB/Swiss-Prot:P51648

Gene LinkOut

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