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Aliases for ALDH3A2 Gene

Aliases for ALDH3A2 Gene

  • Aldehyde Dehydrogenase 3 Family Member A2 2 3 5
  • Aldehyde Dehydrogenase 3 Family, Member A2 2 3
  • Aldehyde Dehydrogenase Family 3 Member A2 3 4
  • Microsomal Aldehyde Dehydrogenase 3 4
  • Aldehyde Dehydrogenase 10 3 4
  • EC 1.2.1.3 4 63
  • ALDH10 3 4
  • FALDH 3 4
  • Fatty Aldehyde Dehydrogenase 2
  • EC 1.2.1 63
  • 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 Arginine and proline metabolism and Porphyrin and chlorophyll metabolism. GO annotations related to this gene include oxidoreductase activity and aldehyde dehydrogenase (NAD) activity. An important paralog of this gene is ALDH3B1.

UniProtKB/Swiss-Prot for ALDH3A2 Gene

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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALDH3A2 Gene

Genomics for ALDH3A2 Gene

Regulatory Elements for ALDH3A2 Gene

Enhancers for ALDH3A2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ALDH3A2 on UCSC Golden Path with GeneCards custom track

Promoters for ALDH3A2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ALDH3A2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ALDH3A2 Gene

Chromosome:
17
Start:
19,648,136 bp from pter
End:
19,677,598 bp from pter
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:
    Fatty aldehyde dehydrogenase
    Protein Accession:
    P51648
    Secondary Accessions:
    • Q6I9T3
    • Q93011
    • Q96J37

    Protein attributes for ALDH3A2 Gene

    Size:
    485 amino acids
    Molecular mass:
    54848 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for ALDH3A2 Gene

    Alternative splice isoforms for ALDH3A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALDH3A2 Gene

Proteomics data for ALDH3A2 Gene at MOPED

Post-translational modifications for ALDH3A2 Gene

  • Ubiquitination at Lys 266 and Lys 452
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for ALDH3A2 Gene

Gene Families for ALDH3A2 Gene

Suggested Antigen Peptide Sequences for ALDH3A2 Gene

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 CatalyticActivity:
An aldehyde + NAD(+) + H(2)O = a carboxylate + NADH.
UniProtKB/Swiss-Prot Function:
Catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length. Responsible for conversion of the sphingosine 1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid.

Enzyme Numbers (IUBMB) for ALDH3A2 Gene

Gene Ontology (GO) - Molecular Function for ALDH3A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004030 aldehyde dehydrogenase [NAD(P)+] activity IEA --
GO:0052814 medium-chain-aldehyde dehydrogenase activity IDA 18035827
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

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

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ALDH3A2 Gene COMPARTMENTS Subcellular localization image for ALDH3A2 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
peroxisome 5
cytosol 4
mitochondrion 4
nucleus 3
cytoskeleton 2
chloroplast 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ALDH3A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005778 peroxisomal membrane TAS --
GO:0005829 cytosol IEA --
GO:0043231 intracellular membrane-bounded organelle IDA 9133646
genes like me logo Genes that share ontologies with ALDH3A2: view

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:0000302 response to reactive oxygen species IEA --
GO:0007422 peripheral nervous system development IMP 8528251
GO:0008152 metabolic process IEA --
GO:0030148 sphingolipid biosynthetic process TAS --
GO:0044281 small molecule metabolic process TAS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
acetic acid Approved Nutra Full agonist, Agonist 97
beta-Alanine Experimental Pharma Full agonist, Agonist Endogenous glycine agonist, more selective than taurine (Cat. No. 0209) 0
Indoleacetic acid Experimental Pharma 0
methylmalonic acid Experimental Pharma 0
NADH Nutra Target 0

(46) 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
  • (2S)-2-methyl-3-oxopropanoate
  • (2S)-2-methyl-3-oxopropanoic acid
  • (S)-Methylmalonate semialdehyde
99043-16-0
2,5-Dioxopentanoate
2-Propyn-1-al
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

Unigene Clusters for ALDH3A2 Gene

Aldehyde dehydrogenase 3 family, member A2:
Representative Sequences:

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 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, PaxDb, MOPED, and MaxQB for ALDH3A2 Gene



SOURCE GeneReport for Unigene cluster for ALDH3A2 Gene Hs.499886

genes like me logo Genes that share expression patterns with ALDH3A2: view

Protein tissue co-expression partners for ALDH3A2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for ALDH3A2 Gene

Orthologs for ALDH3A2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALDH3A2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ALDH3A2 35
  • 83.44 (n)
  • 85.65 (a)
ALDH3A2 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALDH3A2 35
  • 86.56 (n)
  • 87.75 (a)
ALDH3A2 36
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aldh3a2 35
  • 83.78 (n)
  • 84.62 (a)
Aldh3a2 16
Aldh3a2 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ALDH3A2 35
  • 99.15 (n)
  • 98.62 (a)
ALDH3A2 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aldh3a2 35
  • 83.37 (n)
  • 85.24 (a)
oppossum
(Monodelphis domestica)
Mammalia ALDH3A2 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALDH3A2 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALDH3A2 35
  • 68.34 (n)
  • 72.33 (a)
ALDH3A2 36
  • 71 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 62 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh3a2 35
  • 66.05 (n)
  • 65.42 (a)
Str.7466 35
zebrafish
(Danio rerio)
Actinopterygii Dr.5533 35
LOC100000026 35
  • 59.71 (n)
  • 59.56 (a)
aldh3a1 36
  • 52 (a)
ManyToMany
aldh3a2a 36
  • 58 (a)
ManyToMany
aldh3a2b 36
  • 60 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Aldh-III 37
  • 50 (a)
Aldh-III 36
  • 42 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea alh-5 35
  • 53.4 (n)
  • 49.88 (a)
alh-4 36
  • 46 (a)
ManyToMany
alh-5 36
  • 48 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HFD1 36
  • 30 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ALDH3I1 35
  • 50.87 (n)
  • 44.7 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6683 36
  • 47 (a)
ManyToMany
CSA.9635 36
  • 40 (a)
ManyToMany
Species with no ortholog for ALDH3A2:
  • 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)

Paralogs for ALDH3A2 Gene

Paralogs for ALDH3A2 Gene

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 Sequence Context AA Info Type
VAR_002249 Sjoegren-Larsson syndrome (SLS)
VAR_002250 Sjoegren-Larsson syndrome (SLS)
VAR_002251 Sjoegren-Larsson syndrome (SLS)
VAR_002252 Sjoegren-Larsson syndrome (SLS)
VAR_002254 Sjoegren-Larsson syndrome (SLS)

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

Variant ID Type Subtype PubMed ID
nsv428337 CNV Loss 18775914
dgv934e1 CNV Complex 17122850
nsv907865 CNV Loss 21882294
esv2715735 CNV Deletion 23290073
esv4947 CNV Deletion 18987735
esv2659432 CNV Deletion 23128226

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)

Relevant External Links for ALDH3A2 Gene

HapMap Linkage Disequilibrium report
ALDH3A2
Human Gene Mutation Database (HGMD)
ALDH3A2

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

Disorders for ALDH3A2 Gene

MalaCards: The human disease database

(11) MalaCards diseases for ALDH3A2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
sjogren-larsson syndrome
  • sjogren larsson syndrome
spastic diplegia
  • cerebral palsy
quadriplegia
  • quadriplegia, unspecified
spastic cerebral palsy
ichthyosis vulgaris
  • dominant congenital ichthyosiform erythroderma
- 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.

Relevant External Links for ALDH3A2

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

No data available for Genatlas for ALDH3A2 Gene

Publications for ALDH3A2 Gene

  1. The SjAPgren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association. (PMID: 7894487) Pigg M. … Wadelius C. (Nat. Genet. 1994) 2 3 48 67
  2. Abnormal fatty alcohol metabolism in cultured keratinocytes from patients with SjAPgren-Larsson syndrome. (PMID: 17971613) Rizzo W.B. … Simon M. (J. Lipid Res. 2008) 3 23
  3. SjAPgren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency. (PMID: 16996289) Rizzo W.B. (Mol. Genet. Metab. 2007) 3 23
  4. Novel and recurrent ALDH3A2 mutations in Italian patients with SjAPgren-Larsson syndrome. (PMID: 17902024) Didona B. … Terrinoni A. (J. Hum. Genet. 2007) 3 23
  5. Dual subcellular localization in the endoplasmic reticulum and peroxisomes and a vital role in protecting against oxidative stress of fatty aldehyde dehydrogenase are achieved by alternative splicing. (PMID: 17510064) Ashibe B. … Motojima K. (J. Biol. Chem. 2007) 3 23

Products for ALDH3A2 Gene

Sources for ALDH3A2 Gene

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