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

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: all
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Genomic context

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_000017.11 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?

Inhibit ALDH3A2 reduce ovarian cancer cells survival via elevating ferroptosis sensitivity.
Title: Inhibit ALDH3A2 reduce ovarian cancer cells survival via elevating ferroptosis sensitivity.
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.
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.
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.
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.
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.
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.
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.
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.
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	not available

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

SGC31627 (e-PCR)
- UniSTS:11539

RH75646 (e-PCR)
- UniSTS:92215

AFMa126yd5 (e-PCR)
- UniSTS:74088

RH64993 (e-PCR)
- UniSTS:719

RH66582 (e-PCR)
- UniSTS:75771

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 cellular aldehyde metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular aldehyde metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular 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

EC 1.2.1.3

EC 1.2.1.94

NP_001026976.1

EC 1.2.1.3

EC 1.2.1.94

NP_001356065.1

EC 1.2.1.3

EC 1.2.1.94

NP_001356066.1

EC 1.2.1.3

EC 1.2.1.94

NP_001356067.1

EC 1.2.1.3

EC 1.2.1.94

NP_001356068.1

EC 1.2.1.3

EC 1.2.1.94

NP_001356075.1

EC 1.2.1.3

EC 1.2.1.94

NP_001356077.1

EC 1.2.1.3

EC 1.2.1.94

XP_024306419.1

EC 1.2.1.3

EC 1.2.1.94

XP_047291578.1

EC 1.2.1.3

EC 1.2.1.94

XP_054171453.1

EC 1.2.1.3

EC 1.2.1.94

XP_054171454.1

EC 1.2.1.3

EC 1.2.1.94

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_007095.2 RefSeqGene

Range

5001..33846

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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
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
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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

19648136..19677596

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Related

ENSP00000500777.1, ENST00000672567.1
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

NC_060941.1 Alternate T2T-CHM13v2.0

Range

19596758..19626215

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054315478.1 → XP_054171453.1 aldehyde dehydrogenase family 3 member A2 isoform X1
XM_054315479.1 → XP_054171454.1 aldehyde dehydrogenase family 3 member A2 isoform X2