U.S. flag

An official website of the United States government

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

Gene ID: 224, updated on 4-Jan-2025

Summary

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

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

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

Pathways from PubChem

Interactions

General gene information

Clone Names

  • FLJ20851, DKFZp686E23276

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in cytoplasm  
located_in cytosol  
located_in endoplasmic reticulum membrane  
located_in intracellular membrane-bounded organelle PubMed 
located_in peroxisomal membrane  
located_in peroxisome PubMed 

General protein information

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)

NEW Try the new Transcript table

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_000382.3NP_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:5444
    ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins
  2. NM_001031806.2NP_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:5444
    ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins
  3. NM_001369136.1NP_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:5444
    ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins
  4. NM_001369137.2NP_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:5444
    ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins
  5. NM_001369138.2NP_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:5444
    ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins
  6. NM_001369139.1NP_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:5444
    ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins
  7. NM_001369146.2NP_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:5403
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
  8. NM_001369148.2NP_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:1251
    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_047435622.1XP_047291578.1  aldehyde dehydrogenase family 3 member A2 isoform X1

    UniProtKB/TrEMBL
    A0A5F9ZHI5
    Related
    ENSP00000500777.1, ENST00000672567.1
  2. XM_024450651.2XP_024306419.1  aldehyde dehydrogenase family 3 member A2 isoform X2

    UniProtKB/TrEMBL
    Q68D64
    Conserved Domains (1) summary
    cl11961
    Location:1251
    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_054315478.1XP_054171453.1  aldehyde dehydrogenase family 3 member A2 isoform X1

    UniProtKB/TrEMBL
    A0A5F9ZHI5
  2. XM_054315479.1XP_054171454.1  aldehyde dehydrogenase family 3 member A2 isoform X2

    UniProtKB/TrEMBL
    Q68D64
External link. Please review our privacy policy.