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... See more...

Aliases for ALDH3A2 Gene

Aliases for ALDH3A2 Gene

  • Aldehyde Dehydrogenase 3 Family Member A2 2 3 5
  • Fatty Aldehyde Dehydrogenase 2 3 4
  • Aldehyde Dehydrogenase Family 3 Member A2 3 4
  • Microsomal Aldehyde Dehydrogenase 3 4
  • Aldehyde Dehydrogenase 10 3 4
  • EC 1.2.1.3 4 54
  • ALDH10 3 4
  • FALDH 3 4
  • Aldehyde Dehydrogenase 3 Family, Member A2 2
  • EC 1.2.1.94 4
  • EC 1.2.1 54
  • SLS 3

External Ids for ALDH3A2 Gene

Previous HGNC Symbols for ALDH3A2 Gene

  • SLS
  • ALDH10

Previous GeneCards Identifiers for ALDH3A2 Gene

  • GC17P019722
  • GC17P021188
  • GC17P019455
  • GC17P019714
  • GC17P019492
  • GC17P019551
  • GC17P018931

Summaries for ALDH3A2 Gene

Entrez Gene Summary for ALDH3A2 Gene

  • 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]

GeneCards Summary for ALDH3A2 Gene

ALDH3A2 (Aldehyde Dehydrogenase 3 Family Member A2) is a Protein Coding gene. Diseases associated with ALDH3A2 include Sjogren-Larsson Syndrome and Spastic Diplegia. Among its related pathways are Peroxisomal lipid metabolism and Pyruvate metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and aldehyde dehydrogenase (NAD) activity. An important paralog of this gene is ALDH3A1.

UniProtKB/Swiss-Prot Summary for ALDH3A2 Gene

  • Catalyzes the oxidation of medium and long chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length (PubMed:9133646, PubMed:22633490, PubMed:25047030, PubMed:18035827, PubMed:9662422, PubMed:18182499). Responsible for conversion of the sphingosine 1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid (PubMed:22633490).

Additional gene information for ALDH3A2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ALDH3A2 Gene

Genomics for ALDH3A2 Gene

GeneHancer (GH) Regulatory Elements for ALDH3A2 Gene


GeneHancers around ALDH3A2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ALDH3A2 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • C/EBPalpha
  • IRF-1

Genomic Locations for ALDH3A2 Gene

Genomic Locations for ALDH3A2 Gene
chr17:19,648,136-19,677,598
(GRCh38/hg38)
Size:
29,463 bases
Orientation:
Plus strand
chr17:19,551,449-19,580,911
(GRCh37/hg19)
Size:
29,463 bases
Orientation:
Plus strand

Genomic View for ALDH3A2 Gene

Genes around ALDH3A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALDH3A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALDH3A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDH3A2 Gene

Proteins for ALDH3A2 Gene

  • Protein details for ALDH3A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51648-AL3A2_HUMAN
    Recommended name:
    Aldehyde dehydrogenase family 3 member A2
    Protein Accession:
    P51648
    Secondary Accessions:
    • Q6I9T3
    • Q93011
    • Q96J37

    Protein attributes for ALDH3A2 Gene

    Size:
    485 amino acids
    Molecular mass:
    54848 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for ALDH3A2 Gene

    Alternative splice isoforms for ALDH3A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALDH3A2 Gene

Selected DME Specific Peptides for ALDH3A2 Gene

P51648:
  • LRFRLQQLEALRRMVQEREK
  • IVMEAAAK
  • VTLELGG
  • SPDYERIINLRHFKR
  • APDYILC
  • ETTELLKQRFDHI
  • IGAWNYP
  • GMGAYHG
  • TLELGGK
  • CRRITWGKYMNCGQTCIAPDYILCEAS
  • LGEIDFML
  • FSHQRPCLLK
  • LLPQYLDQDLY
  • EKPLALY
  • GQKIAFGGE

Post-translational modifications for ALDH3A2 Gene

  • Ubiquitination at Lys266 and Lys452
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Boster Bio Antibodies for ALDH3A2
  • Santa Cruz Biotechnology (SCBT) Antibodies for ALDH3A2

Domains & Families for ALDH3A2 Gene

Gene Families for ALDH3A2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for ALDH3A2 Gene

GenScript: Design optimal peptide antigens:
  • Microsomal aldehyde dehydrogenase (AL3A2_HUMAN)
  • Aldehyde dehydrogenase (Q6I9T3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P51648

UniProtKB/Swiss-Prot:

AL3A2_HUMAN :
  • Belongs to the aldehyde dehydrogenase family.
Family:
  • Belongs to the aldehyde dehydrogenase family.
genes like me logo Genes that share domains with ALDH3A2: view

Function for ALDH3A2 Gene

Molecular function for ALDH3A2 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the oxidation of medium and long chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length (PubMed:9133646, PubMed:22633490, PubMed:25047030, PubMed:18035827, PubMed:9662422, PubMed:18182499). Responsible for conversion of the sphingosine 1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid (PubMed:22633490).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an aldehyde + H2O + NAD(+) = a carboxylate + 2 H(+) + NADH; Xref=Rhea:RHEA:16185, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17478, ChEBI:CHEBI:29067, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.2.1.3; Evidence={ECO:0000269 PubMed:18035827, ECO:0000269 PubMed:18182499, ECO:0000269 PubMed:22633490, ECO:0000269 PubMed:25047030, ECO:0000269 PubMed:9133646, ECO:0000269 PubMed:9662422};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a fatty aldehyde + H2O + NAD(+) = a fatty acid + 2 H(+) + NADH; Xref=Rhea:RHEA:49832, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:28868, ChEBI:CHEBI:35746, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence={ECO:0000269 PubMed:18035827, ECO:0000269 PubMed:22633490, ECO:0000269 PubMed:25047030, ECO:0000269 PubMed:9133646, ECO:0000269 PubMed:9662422};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(2E)-hexadecenal + H2O + NAD(+) = (E)-hexadec-2-enoate + 2 H(+) + NADH; Xref=Rhea:RHEA:36135, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17585, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:72745; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 H(+) + hexadecanoate + NADH = H2O + hexadecanal + NAD(+); Xref=Rhea:RHEA:33739, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17600, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence={ECO:0000269 PubMed:18035827, ECO:0000269 PubMed:22633490};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=22-oxodocosanoate + H2O + NAD(+) = docosanedioate + 2 H(+) + NADH; Xref=Rhea:RHEA:39015, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:76298, ChEBI:CHEBI:76299; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2,6,10,14-tetramethylpentadecanal + H2O + NAD(+) = 2,6,10,14-tetramethylpentadecanoate + 2 H(+) + NADH; Xref=Rhea:RHEA:44016, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:49189, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:77268; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + NAD(+) + octadecanal = 2 H(+) + NADH + octadecanoate; Xref=Rhea:RHEA:44020, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17034, ChEBI:CHEBI:25629, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence={ECO:0000269 PubMed:18035827, ECO:0000269 PubMed:9662422};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=dodecanoate + 2 H(+) + NADH = dodecanal + H2O + NAD(+); Xref=Rhea:RHEA:44168, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:18262, ChEBI:CHEBI:27836, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence={ECO:0000269 PubMed:18035827, ECO:0000269 PubMed:25047030};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=decanal + H2O + NAD(+) = decanoate + 2 H(+) + NADH; Xref=Rhea:RHEA:44104, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:27689, ChEBI:CHEBI:31457, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence={ECO:0000269 PubMed:18035827, ECO:0000269 PubMed:9133646};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + NAD(+) + tetradecanal = 2 H(+) + NADH + tetradecanoate; Xref=Rhea:RHEA:44172, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30807, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:84067; Evidence={ECO:0000269 PubMed:18035827, ECO:0000269 PubMed:9133646};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + NAD(+) + octanal = 2 H(+) + NADH + octanoate; Xref=Rhea:RHEA:44100, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17935, ChEBI:CHEBI:25646, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence={ECO:0000269 PubMed:18035827, ECO:0000269 PubMed:25047030, ECO:0000269 PubMed:9133646};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + heptanal + NAD(+) = 2 H(+) + heptanoate + NADH; Xref=Rhea:RHEA:44108, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:32362, ChEBI:CHEBI:34787, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(2E,6E)-farnesal + H2O + NAD(+) = (2E,6E)-farnesoate + 2 H(+) + NADH; Xref=Rhea:RHEA:24216, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15894, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:83276; EC=1.2.1.94; Evidence=. ;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=50 uM for hexanal {ECO:0000269 PubMed:9133646}; KM=32 uM for octanal {ECO:0000269 PubMed:9133646}; KM=23 uM for decanal {ECO:0000269 PubMed:9133646}; KM=3.8 uM for decanal {ECO:0000269 PubMed:18035827}; KM=19 uM for dodecanal {ECO:0000269 PubMed:9133646}; KM=13.6 uM for dodecanal {ECO:0000269 PubMed:18035827}; KM=23 uM for tetradecanal {ECO:0000269 PubMed:9133646}; KM=10.3 uM for tetradecanal {ECO:0000269 PubMed:18035827}; KM=8.3 uM for hexadecanal {ECO:0000269 PubMed:18035827}; KM=32 uM for hexadecanal {ECO:0000269 PubMed:9133646}; KM=21 uM for octadecanal {ECO:0000269 PubMed:9133646}; KM=20 uM for octadecanal {ECO:0000269 PubMed:18035827}; KM=23 uM for farnesal {ECO:0000269 PubMed:18035827}; KM=280 uM for NAD {ECO:0000269 PubMed:9133646}; KM=180 uM for NAD {ECO:0000269 PubMed:18035827}; KM=8700 uM for NADP {ECO:0000269 PubMed:9133646}; Vmax=29 umol/min/mg enzyme with hexanal {ECO:0000269 PubMed:9133646}; Vmax=63 umol/min/mg enzyme with octanal {ECO:0000269 PubMed:9133646}; Vmax=73 umol/min/mg enzyme with decanal {ECO:0000269 PubMed:9133646}; Vmax=2.3 umol/min/mg enzyme with decanal {ECO:0000269 PubMed:18035827}; Vmax=45 umol/min/mg enzyme with dodecanal {ECO:0000269 PubMed:9133646}; Vmax=2.3 umol/min/mg enzyme with dodecanal {ECO:0000269 PubMed:18035827}; Vmax=40 umol/min/mg enzyme with hexadecanal {ECO:0000269 PubMed:9133646}; Vmax=0.9 umol/min/mg enzyme with hexadecanal {ECO:0000269 PubMed:18035827}; Vmax=46 umol/min/mg enzyme with octadecanal {ECO:0000269 PubMed:9133646}; Vmax=1.6 umol/min/mg enzyme with octadecanal {ECO:0000269 PubMed:18035827}; Vmax=42 umol/min/mg enzyme with tetradecanal {ECO:0000269 PubMed:9133646}; Vmax=0.9 umol/min/mg enzyme with tetradecanal {ECO:0000269 PubMed:18035827}; Vmax=0.97 umol/min/mg enzyme with farnesal {ECO:0000269 PubMed:18035827}; Vmax=1.3 umol/min/mg enzyme with NAD {ECO:0000269 PubMed:18035827}; Note=Kcat is 2.18 sec(-1) for decanal as substrate. Kcat is 2.23 sec(-1) for dodecanal as substrate. Kcat is 0.86 sec(-1) for tetradecanal as substrate. Kcat is 0.95 sec(-1) for hexadecanal as substrate. Kcat is 1.52 sec(-1) for octadecanal as substrate. Kcat is 0.93 sec(-1) for farnesal as substrate. Kcat is 1.28 sec(-1) for NAD as substrate. {ECO:0000269 PubMed:18035827}; pH dependence: Optimum pH is 9.8. {ECO:0000269 PubMed:18035827, ECO:0000269 PubMed:9133646};

Enzyme Numbers (IUBMB) for ALDH3A2 Gene

Phenotypes From GWAS Catalog for ALDH3A2 Gene

Gene Ontology (GO) - Molecular Function for ALDH3A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004028 3-chloroallyl aldehyde dehydrogenase activity IBA 21873635
GO:0004029 aldehyde dehydrogenase (NAD) activity IMP 8528251
GO:0005515 protein binding IPI 25047030
GO:0016491 oxidoreductase activity IEA --
GO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor IEA --
genes like me logo Genes that share ontologies with ALDH3A2: view
genes like me logo Genes that share phenotypes with ALDH3A2: view

Human Phenotype Ontology for ALDH3A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ALDH3A2 Gene

MGI Knock Outs for ALDH3A2:

Animal Model Products

CRISPR Products

miRNA for ALDH3A2 Gene

miRTarBase miRNAs that target ALDH3A2

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for ALDH3A2 Gene

Localization for ALDH3A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDH3A2 Gene

Microsome membrane; Single-pass membrane protein. Endoplasmic reticulum membrane; Single-pass membrane protein; Cytoplasmic side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALDH3A2 gene
Compartment Confidence
peroxisome 5
endoplasmic reticulum 4
cytosol 3
mitochondrion 2
nucleus 1
plasma membrane 0
extracellular 0

Gene Ontology (GO) - Cellular Components for ALDH3A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005778 peroxisomal membrane TAS --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ALDH3A2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ALDH3A2 Gene

Pathways & Interactions for ALDH3A2 Gene

genes like me logo Genes that share pathways with ALDH3A2: view

Gene Ontology (GO) - Biological Process for ALDH3A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001561 fatty acid alpha-oxidation TAS --
GO:0006081 cellular aldehyde metabolic process NAS 8528251
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0007417 central nervous system development IMP 8528251
genes like me logo Genes that share ontologies with ALDH3A2: view

No data available for SIGNOR curated interactions for ALDH3A2 Gene

Drugs & Compounds for ALDH3A2 Gene

(14) Drugs for ALDH3A2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
acetic acid Approved Pharma Full agonist, Agonist 130
gamma-Aminobutyric acid Approved, Investigational Pharma 27
Water Approved Pharma 0
beta-Alanine Experimental Pharma Full agonist, Agonist Endogenous glycine agonist, more selective than taurine (Cat. No. 0209) 0

(41) Additional Compounds for ALDH3A2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
(S)-Methylmalonic acid semialdehyde
  • (S)-Methylmalonate semialdehyde
  • (2S)-2-Methyl-3-oxopropanoate
  • (2S)-2-Methyl-3-oxopropanoic acid
99043-16-0
2,5-Dioxopentanoate
  • 2,5-Dioxopentanoate
  • 2-Oxoglutarate semialdehyde
  • 2-Oxoglutaric acid semialdehyde
2-Propyn-1-al
  • Formylacetylene
  • Propargylaldehyde
  • Propioaldehyde
  • Propiolaldehyde
3a,7a-Dihydroxy-5b-cholestan-26-al
  • 3alpha,7alpha-Dihydroxy-5beta-cholestan-27-al
  • 5beta-Cholestan-27-al-3alpha,7alpha-diol
  • 5beta-Cholestane-3alpha,7alpha-diol-27-al
genes like me logo Genes that share compounds with ALDH3A2: view

Transcripts for ALDH3A2 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALDH3A2 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^
SP1: - -
SP2: - -
SP3: - - -
SP4: - - - - -
SP5: - - - - - -
SP6: - -
SP7: -
SP8: -
SP9:
SP10:
SP11: - - - - -
SP12:

ExUns: 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c · 15d
SP1: - - -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: - - -
SP9: - -
SP10:
SP11:
SP12:

Relevant External Links for ALDH3A2 Gene

GeneLoc Exon Structure for
ALDH3A2
ECgene alternative splicing isoforms for
ALDH3A2

Expression for ALDH3A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ALDH3A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ALDH3A2 Gene

This gene is overexpressed in Adrenal Gland (x4.4).

Protein differential expression in normal tissues from HIPED for ALDH3A2 Gene

This gene is overexpressed in Nasal epithelium (20.9) and Adrenal (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ALDH3A2 Gene



Protein tissue co-expression partners for ALDH3A2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ALDH3A2 Gene:

ALDH3A2

SOURCE GeneReport for Unigene cluster for ALDH3A2 Gene:

Hs.499886

mRNA Expression by UniProt/SwissProt for ALDH3A2 Gene:

P51648-AL3A2_HUMAN
Tissue specificity: Detected in liver (at protein level).

Evidence on tissue expression from TISSUES for ALDH3A2 Gene

  • Liver(4.7)
  • Skin(4.6)
  • Nervous system(4.3)
  • Kidney(2.7)
  • Adrenal gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ALDH3A2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • immune
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
Limb:
  • nail
General:
  • blood
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with ALDH3A2: view

Orthologs for ALDH3A2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALDH3A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALDH3A2 33 32
  • 99.15 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ALDH3A2 33 32
  • 86.56 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Aldh3a2 17 33 32
  • 83.78 (n)
cow
(Bos Taurus)
Mammalia ALDH3A2 33 32
  • 83.44 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aldh3a2 32
  • 83.37 (n)
oppossum
(Monodelphis domestica)
Mammalia ALDH3A2 33
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALDH3A2 33
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALDH3A2 33 32
  • 68.34 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 62 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh3a2 32
  • 66.05 (n)
Str.7466 32
zebrafish
(Danio rerio)
Actinopterygii aldh3a2b 33
  • 60 (a)
ManyToMany
LOC100000026 32
  • 59.71 (n)
aldh3a2a 33
  • 58 (a)
ManyToMany
aldh3a1 33
  • 52 (a)
ManyToMany
Dr.5533 32
fruit fly
(Drosophila melanogaster)
Insecta Aldh-III 33 34
  • 42 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea alh-5 33 32
  • 53.4 (n)
ManyToMany
alh-4 33
  • 46 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HFD1 33
  • 30 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ALDH3I1 32
  • 50.87 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6683 33
  • 47 (a)
ManyToMany
CSA.9635 33
  • 40 (a)
ManyToMany
Species where no ortholog for ALDH3A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ALDH3A2 Gene

ENSEMBL:
Gene Tree for ALDH3A2 (if available)
TreeFam:
Gene Tree for ALDH3A2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ALDH3A2: view image

Paralogs for ALDH3A2 Gene

(4) SIMAP similar genes for ALDH3A2 Gene using alignment to 13 proteins:

  • AL3A2_HUMAN
  • C9JGJ2_HUMAN
  • I3L0X1_HUMAN
  • I3L1M4_HUMAN
  • I3L2W1_HUMAN
  • I3L4G6_HUMAN
  • J3KTD9_HUMAN
  • J3KTG1_HUMAN
  • J3QKK9_HUMAN
  • J3QQV9_HUMAN
  • J3QRD1_HUMAN
  • J3QS00_HUMAN
  • K7EN73_HUMAN
genes like me logo Genes that share paralogs with ALDH3A2: view

Variants for ALDH3A2 Gene

Sequence variations from dbSNP and Humsavar for ALDH3A2 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs61737992 likely-benign, not specified, not provided 19,671,783(+) C/T coding_sequence_variant, intron_variant, missense_variant
rs67939114 Sjoegren-Larsson syndrome (SLS) [MIM:270200] 19,671,852(+) A/G coding_sequence_variant, intron_variant, missense_variant
rs72547556 pathogenic, not provided, Sjoegren-Larsson syndrome (SLS) [MIM:270200] 19,651,584(+) T/A 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant
rs72547558 Sjoegren-Larsson syndrome (SLS) [MIM:270200] 19,651,710(+) T/G 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs72547559 Sjoegren-Larsson syndrome (SLS) [MIM:270200] 19,651,734(+) C/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for ALDH3A2 Gene

Variant ID Type Subtype PubMed ID
esv2659432 CNV deletion 23128226
esv2758679 CNV loss 17122850
esv3554235 CNV deletion 23714750
esv3640179 CNV loss 21293372
esv3892981 CNV gain 25118596
esv4947 CNV loss 18987735
nsv1061317 CNV gain 25217958
nsv1061408 CNV gain 25217958
nsv1063892 CNV gain 25217958
nsv1071062 CNV deletion 25765185
nsv1138504 CNV deletion 24896259
nsv428337 CNV loss 18775914

Variation tolerance for ALDH3A2 Gene

Residual Variation Intolerance Score: 31.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.97; 36.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALDH3A2 Gene

Human Gene Mutation Database (HGMD)
ALDH3A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALDH3A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALDH3A2 Gene

Disorders for ALDH3A2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ALDH3A2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
sjogren-larsson syndrome
  • sls
spastic diplegia
  • spastic cerebral palsy
spastic cerebral palsy
  • palsy, cerebral, spastic
quadriplegia
  • tetraplegia
ichthyosis
  • ichthyoses
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

AL3A2_HUMAN
  • Sjoegren-Larsson syndrome (SLS) [MIM:270200]: An autosomal recessive neurocutaneous disorder characterized by a combination of severe mental retardation, spastic di- or tetraplegia and congenital ichthyosis. Ichthyosis is usually evident at birth with varying degrees of erythema and scaling, neurologic symptoms appear in the first or second year of life. Most patients have an IQ of less than 60. Additional clinical features include glistening white spots on the retina, seizures, short stature and speech defects. {ECO:0000269 PubMed:10577908, ECO:0000269 PubMed:10792573, ECO:0000269 PubMed:8528251, ECO:0000269 PubMed:9254849, ECO:0000269 PubMed:9829906}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ALDH3A2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ALDH3A2: view

No data available for Genatlas for ALDH3A2 Gene

Publications for ALDH3A2 Gene

  1. Characterisation of recombinant human fatty aldehyde dehydrogenase: implications for Sjögren-Larsson syndrome. (PMID: 18035827) Lloyd MD … Threadgill MD (Journal of enzyme inhibition and medicinal chemistry 2007) 3 4 23 56
  2. A novel point mutation of the FALDH gene in a Japanese family with Sjögren-Larsson syndrome. (PMID: 10792573) Aoki N … Ito M (The Journal of investigative dermatology 2000) 3 4 23 56
  3. The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene. (PMID: 10577908) Rizzo WB … Lin Z (American journal of human genetics 1999) 3 4 23 56
  4. Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome. (PMID: 9829906) Sillén A … Wadelius C (Human mutation 1998) 3 4 23 56
  5. Human liver fatty aldehyde dehydrogenase: microsomal localization, purification, and biochemical characterization. (PMID: 9133646) Kelson TL … Rizzo WB (Biochimica et biophysica acta 1997) 3 4 23 56

Products for ALDH3A2 Gene

Sources for ALDH3A2 Gene