Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ALDH3A2 Gene

Aliases for ALDH3A2 Gene

  • Aldehyde Dehydrogenase 3 Family, Member A2 2 3
  • ALDH10 3 4 6
  • FALDH 3 4 6
  • Aldehyde Dehydrogenase Family 3 Member A2 3 4
  • Microsomal Aldehyde Dehydrogenase 3 4
  • Fatty Aldehyde Dehydrogenase 2 3
  • Aldehyde Dehydrogenase 10 3 4
  • EC 1.2.1.3 4 64
  • SLS 3 6
  • EC 1.2.1 64

External Ids for ALDH3A2 Gene

Previous Symbols for ALDH3A2 Gene

  • SLS
  • ALDH10

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 Metabolism. GO annotations related to this gene include aldehyde dehydrogenase (NAD) activity and long-chain-alcohol oxidase activity. An important paralog of this gene is ALDH3A1.

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

Genomic Location for ALDH3A2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ALDH3A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDH3A2 Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys266 and Lys452

Domains for ALDH3A2 Gene

Gene Families for ALDH3A2 Gene

HGNC:
  • ALDH :Aldehyde dehydrogenases

UniProtKB/Swiss-Prot:

AL3A2_HUMAN
Family:
  • Belongs to the aldehyde dehydrogenase family.:
    • P51648
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:0003995 acyl-CoA dehydrogenase activity --
GO:0004028 3-chloroallyl aldehyde dehydrogenase activity IBA --
GO:0004029 aldehyde dehydrogenase (NAD) activity IMP 15110319
GO:0004030 aldehyde dehydrogenase [NAD(P)+] activity IEA --
GO:0016491 oxidoreductase activity --
genes like me logo Genes that share ontologies with ALDH3A2: view

Phenotypes for ALDH3A2 Gene

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

miRNA for ALDH3A2 Gene

miRTarBase miRNAs that target ALDH3A2

No data available for Animal Models , Transcription Factor Targeting 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
peroxisome 5
cytosol 2
mitochondrion 2
extracellular 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ALDH3A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005777 peroxisome IDA 17510064
GO:0005783 endoplasmic reticulum --
GO:0005789 endoplasmic reticulum membrane IEA --
genes like me logo Genes that share ontologies with ALDH3A2: view

Pathways 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:0006081 cellular aldehyde metabolic process NAS 8528251
GO:0006714 sesquiterpenoid metabolic process IDA 18035827
GO:0007417 central nervous system development IMP 8528251
GO:0007422 peripheral nervous system development IMP 8528251
GO:0008152 metabolic process --
genes like me logo Genes that share ontologies with ALDH3A2: view

Compounds for ALDH3A2 Gene

(34) HMDB Compounds for ALDH3A2 Gene

Compound Synonyms Cas Number PubMed IDs
(S)-Methylmalonic acid semialdehyde
  • (S)-Methylmalonate semialdehyde
99043-16-0
20-oxo-leukotriene B4
  • 20-carboxyleukotriene B4
Not Available
20-Oxo-leukotriene E4
  • 20-oxo-LTE(,4)
Not Available
2-Propyn-1-al
Not Available
3a,7a-Dihydroxy-5b-cholestan-26-al
  • 3a,7a-Dihydroxy-5b-cholestan-26-al
Not Available

(1) Drugbank Compounds for ALDH3A2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
NADH
  • beta-DPNH
606-68-8 target

(15) Novoseek inferred chemical compound relationships for ALDH3A2 Gene

Compound -log(P) Hits PubMed IDs
octadecanal 93.7 4
phytenic acid 93.5 2
stearyl alcohol 83.5 2
phytanic acid 82.4 4
phytol 78.1 4
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 (4.4).

Integrated Proteomics: protein expression 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 expressions 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 36
  • 99.15 (n)
  • 98.62 (a)
ALDH3A2 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ALDH3A2 36
  • 83.44 (n)
  • 85.65 (a)
ALDH3A2 37
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALDH3A2 36
  • 86.56 (n)
  • 87.75 (a)
ALDH3A2 37
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aldh3a2 36
  • 83.78 (n)
  • 84.62 (a)
Aldh3a2 16
Aldh3a2 37
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ALDH3A2 37
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALDH3A2 37
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aldh3a2 36
  • 83.37 (n)
  • 85.24 (a)
chicken
(Gallus gallus)
Aves ALDH3A2 36
  • 68.34 (n)
  • 72.33 (a)
ALDH3A2 37
  • 71 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 62 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh3a2 36
  • 66.05 (n)
  • 65.42 (a)
Str.7466 36
zebrafish
(Danio rerio)
Actinopterygii aldh3a1 37
  • 52 (a)
ManyToMany
aldh3a2a 37
  • 58 (a)
ManyToMany
aldh3a2b 37
  • 60 (a)
ManyToMany
Dr.5533 36
LOC100000026 36
  • 59.71 (n)
  • 59.56 (a)
fruit fly
(Drosophila melanogaster)
Insecta Aldh-III 37
  • 42 (a)
OneToMany
Aldh-III 38
  • 50 (a)
worm
(Caenorhabditis elegans)
Secernentea alh-4 37
  • 46 (a)
ManyToMany
alh-5 36
  • 53.4 (n)
  • 49.88 (a)
alh-5 37
  • 48 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HFD1 37
  • 30 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ALDH3I1 36
  • 50.87 (n)
  • 44.7 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6683 37
  • 47 (a)
ManyToMany
CSA.9635 37
  • 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 MAF
rs7215 -- 19,677,181(+) ACTCA(A/G)AAAGA utr-variant-3-prime
rs7216 -- 19,675,560(+) CAGGC(A/T)GAATA reference, synonymous-codon, utr-variant-3-prime
rs12708 -- 19,677,145(+) CCTTG(G/T)AGCTC utr-variant-3-prime
rs16420 -- 19,677,448(+) CTAAT(-/AC)ACATC utr-variant-3-prime
rs962800 -- 19,656,155(-) AGAAC(C/T)AATCT intron-variant

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

Relevant External Links for ALDH3A2 Gene

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

Disorders for ALDH3A2 Gene

(1) OMIM Diseases for ALDH3A2 Gene (609523)

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.

(3) University of Copenhagen DISEASES for ALDH3A2 Gene

(8) Novoseek inferred disease relationships for ALDH3A2 Gene

Disease -log(P) Hits PubMed IDs
sjogren-larsson syndrome 98.9 28
congenital ichthyosis 95.2 5
ichthyosis 93.2 9
phakomatosis 88.7 9
spastic diplegia 88 2

Relevant External Links for ALDH3A2

Genetic Association Database (GAD)
ALDH3A2
Human Genome Epidemiology (HuGE) Navigator
ALDH3A2
genes like me logo Genes that share disorders with ALDH3A2: view

Publications for ALDH3A2 Gene

  1. Sjogren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. (PMID: 8528251) de Laurenzi V. … Rizzo W.B. (Nat. Genet. 1996) 3 4 23
  2. Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH). (PMID: 9027499) Rogers G.R. … Compton J.G. (Genomics 1997) 3 4 23
  3. Human fatty aldehyde dehydrogenase gene (ALDH10): organization and tissue-dependent expression. (PMID: 9070922) Chang C. … Yoshida A. (Genomics 1997) 3 4 23
  4. A missense mutation in the FALDH gene identified in Sjogren-Larsson syndrome patients originating from the northern part of Sweden. (PMID: 9254849) Sillen A. … Wadelius C. (Hum. Genet. 1997) 3 4 23
  5. Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjoegren-Larsson syndrome. (PMID: 9829906) Sillen A. … Wadelius C. (Hum. Mutat. 1998) 3 4 23

Products for ALDH3A2 Gene

Sources for ALDH3A2 Gene

Back to Top

Content