This gene encodes a member of the aldehyde dehydrogenase family, a group of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The gene of this particular family member is over 10 kb in length. Altered methylation patterns at this locus have been observed in spermatozoa derived from patients exhibiting ... See more...

Aliases for ALDH3B2 Gene

Aliases for ALDH3B2 Gene

  • Aldehyde Dehydrogenase 3 Family Member B2 2 3 5
  • Aldehyde Dehydrogenase 8 2 3 4
  • Aldehyde Dehydrogenase Family 3 Member B2 3 4
  • Acetaldehyde Dehydrogenase 8 2 3
  • ALDH8 3 4
  • Aldehyde Dehydrogenase 3 Family, Member B2 2
  • EC 1.2.1.5 52
  • EC 1.2.1.3 4
  • EC 1.2.1 52

External Ids for ALDH3B2 Gene

Previous HGNC Symbols for ALDH3B2 Gene

  • ALDH8

Previous GeneCards Identifiers for ALDH3B2 Gene

  • GC11M069952
  • GC11M069125
  • GC11M067679
  • GC11M067204
  • GC11M067186
  • GC11M067429
  • GC11M063759

Summaries for ALDH3B2 Gene

Entrez Gene Summary for ALDH3B2 Gene

  • This gene encodes a member of the aldehyde dehydrogenase family, a group of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The gene of this particular family member is over 10 kb in length. Altered methylation patterns at this locus have been observed in spermatozoa derived from patients exhibiting reduced fecundity. [provided by RefSeq, Aug 2017]

GeneCards Summary for ALDH3B2 Gene

ALDH3B2 (Aldehyde Dehydrogenase 3 Family Member B2) is a Protein Coding gene. Diseases associated with ALDH3B2 include Ras-Associated Autoimmune Leukoproliferative Disorder. Among its related pathways are Sphingolipid metabolism and Drug metabolism - cytochrome P450. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and 3-chloroallyl aldehyde dehydrogenase activity. An important paralog of this gene is ALDH3B1.

UniProtKB/Swiss-Prot Summary for ALDH3B2 Gene

Gene Wiki entry for ALDH3B2 Gene

Additional gene information for ALDH3B2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ALDH3B2 Gene

Genomics for ALDH3B2 Gene

GeneHancer (GH) Regulatory Elements for ALDH3B2 Gene

Promoters and enhancers for ALDH3B2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J067673 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 519.8 +6.6 6587 2.8 ZNF217 RFX1 CUX1 GATAD2B CTBP1 RBM25 SIN3A ESRRA MYC ZNF592 ALDH3B2 HSALNG0085182 ACY3 RAD9A NUDT8
GH11J067682 Enhancer 0.7 Ensembl ENCODE 511.3 -1.5 -1487 2.2 ZNF217 CUX1 GATAD2B CTBP1 ELF1 DPF2 RCOR1 TOE1 GATA3 SMARCE1 ALDH3B2 RPL37P2 lnc-ALDH3B2-1 ACY3
GH11J067680 Enhancer 0.3 Ensembl 511.8 +0.2 213 0.4 USF1 ZNF341 ALDH3B2 HSALNG0085182
GH11J067646 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 32.1 +32.4 32447 5.3 CTCF POLR2G SP1 NCOR1 ZIC2 REST MEF2C SKI MYC ATF2 ACY3 ALDH3B2 UNC93B1 RPL37P2 NUDT8 piR-57461-033 TBX10
GH11J067658 Enhancer 1 Ensembl ENCODE 22.9 +22.8 22784 2.9 ZNF217 CTCF REST RAD21 CTBP1 TRIM22 HINFP SMC3 DEK NFIC piR-37472-001 ALDH3B2 NUDT8 ENSG00000227834
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ALDH3B2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ALDH3B2

Top Transcription factor binding sites by QIAGEN in the ALDH3B2 gene promoter:
  • C/EBPalpha
  • E47
  • LCR-F1
  • Lmo2
  • MyoD
  • Pax-5
  • USF1

Genomic Locations for ALDH3B2 Gene

Genomic Locations for ALDH3B2 Gene
chr11:67,662,155-67,681,214
(GRCh38/hg38)
Size:
19,060 bases
Orientation:
Minus strand
chr11:67,429,633-67,448,685
(GRCh37/hg19)
Size:
19,053 bases
Orientation:
Minus strand

Genomic View for ALDH3B2 Gene

Genes around ALDH3B2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALDH3B2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALDH3B2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDH3B2 Gene

Proteins for ALDH3B2 Gene

  • Protein details for ALDH3B2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48448-AL3B2_HUMAN
    Recommended name:
    Aldehyde dehydrogenase family 3 member B2
    Protein Accession:
    P48448
    Secondary Accessions:
    • Q53Y98
    • Q8NAL5
    • Q96IB2

    Protein attributes for ALDH3B2 Gene

    Size:
    385 amino acids
    Molecular mass:
    42635 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ALDH3B2 Gene

Selected DME Specific Peptides for ALDH3B2 Gene

P48448:
  • NAGQTCV
  • VTLELGG
  • VVLKPSE
  • TLELGGKNPCYVDDNCDPQ
  • TLELGGK
  • IAPWNYP
  • GQTCVAPDY
  • SGMGRYHGKF
  • EKPLALY

Post-translational modifications for ALDH3B2 Gene

  • Geranylgeranylation is important for localization to lipid droplets and enzyme activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALDH3B2 Gene

Domains & Families for ALDH3B2 Gene

Gene Families for ALDH3B2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ALDH3B2 Gene

Blocks:
  • Aldehyde dehydrogenase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ALDH3B2 Gene

GenScript: Design optimal peptide antigens:
  • Aldehyde dehydrogenase 8 (AL3B2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P48448

UniProtKB/Swiss-Prot:

AL3B2_HUMAN :
  • Belongs to the aldehyde dehydrogenase family.
Family:
  • Belongs to the aldehyde dehydrogenase family.
genes like me logo Genes that share domains with ALDH3B2: view

Function for ALDH3B2 Gene

Molecular function for ALDH3B2 Gene

UniProtKB/Swiss-Prot Function:
Oxidizes medium and long chain aldehydes into non-toxic fatty acids.
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=. ;.
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=. ;.
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=. ;.

Enzyme Numbers (IUBMB) for ALDH3B2 Gene

Phenotypes From GWAS Catalog for ALDH3B2 Gene

Gene Ontology (GO) - Molecular Function for ALDH3B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004028 3-chloroallyl aldehyde dehydrogenase activity IBA 21873635
GO:0004029 aldehyde dehydrogenase (NAD) activity IEA --
GO:0004030 aldehyde dehydrogenase [NAD(P)+] activity EXP 25286108
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 ALDH3B2: view
genes like me logo Genes that share phenotypes with ALDH3B2: view

miRNA for ALDH3B2 Gene

miRTarBase miRNAs that target ALDH3B2

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ALDH3B2 Gene

Localization for ALDH3B2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDH3B2 Gene

Lipid droplet.

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 ALDH3B2 gene
Compartment Confidence
plasma membrane 2
extracellular 2
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ALDH3B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005811 lipid droplet TAS --
genes like me logo Genes that share ontologies with ALDH3B2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ALDH3B2 Gene

Pathways & Interactions for ALDH3B2 Gene

genes like me logo Genes that share pathways with ALDH3B2: view

UniProtKB/Swiss-Prot P48448-AL3B2_HUMAN

  • Pathway: Alcohol metabolism; ethanol degradation; acetate from ethanol: step 2/2.

Gene Ontology (GO) - Biological Process for ALDH3B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006066 alcohol metabolic process TAS 8890755
GO:0006068 ethanol catabolic process IEA --
GO:0006629 lipid metabolic process TAS 8890755
GO:0030148 sphingolipid biosynthetic process TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with ALDH3B2: view

No data available for SIGNOR curated interactions for ALDH3B2 Gene

Drugs & Compounds for ALDH3B2 Gene

(13) Drugs for ALDH3B2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Calcium carbimide Approved, Withdrawn Pharma Target, antagonist, inhibitor 0
acetic acid Approved Pharma Full agonist, Agonist 141
Chloral hydrate Approved, Illicit, Investigational, Vet_approved Pharma 17
Phenylacetic acid Approved Pharma 16

(18) Additional Compounds for ALDH3B2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3,4-Dihydroxymandelaldehyde
  • 3,4-Dihydroxymandelic aldehyde
  • 3,4-Dihydroxyphenylglycolaldehyde
  • 3,4-Dihydroxyphenylglycolic aldehyde
  • alpha,3,4-Trihydroxybenzeneacetaldehyde
  • alpha,3,4-Trihydroxyphenylacetaldehyde
13023-73-9
3,4-Dihydroxymandelic acid
  • (3,4-Dihydroxyphenyl)(hydroxy)acetic acid
  • 3,4-Dihydroxymandelate
  • 3,4-Dihydroxyphenylglycolic acid
  • Dihydroxymandelic acid
  • DOMA
775-01-9
3,4-Dihydroxyphenylacetaldehyde
  • 2-(3,4-Dihydroxyphenyl)ethanal
  • DOPAL
  • Protocatechuatealdehyde
  • 3,4-Dihydroxy-benzeneacetaldehyde
  • DHPAA aldehyde
5707-55-1
3-Aminopropionaldehyde
  • beta-Aminopropion aldehyde
  • b-Aminopropion aldehyde
  • β-aminopropion aldehyde
  • 3-Aminopropanal
352-92-1
3-Carbamoyl-2-phenylpropionaldehyde
genes like me logo Genes that share compounds with ALDH3B2: view

Transcripts for ALDH3B2 Gene

mRNA/cDNA for ALDH3B2 Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALDH3B2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13
SP1: - - - -
SP2:
SP3: -
SP4: - - -
SP5:

Relevant External Links for ALDH3B2 Gene

GeneLoc Exon Structure for
ALDH3B2

Expression for ALDH3B2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ALDH3B2 Gene

mRNA differential expression in normal tissues according to GTEx for ALDH3B2 Gene

This gene is overexpressed in Esophagus - Mucosa (x16.8), Skin - Sun Exposed (Lower leg) (x12.4), and Skin - Not Sun Exposed (Suprapubic) (x12.0).

Protein differential expression in normal tissues from HIPED for ALDH3B2 Gene

This gene is overexpressed in Lung (53.5) and Heart (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ALDH3B2 Gene



Protein tissue co-expression partners for ALDH3B2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ALDH3B2

SOURCE GeneReport for Unigene cluster for ALDH3B2 Gene:

Hs.87539

mRNA Expression by UniProt/SwissProt for ALDH3B2 Gene:

P48448-AL3B2_HUMAN
Tissue specificity: Salivary gland.
genes like me logo Genes that share expression patterns with ALDH3B2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ALDH3B2 Gene

Orthologs for ALDH3B2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALDH3B2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALDH3B2 31
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ALDH3B2 31
  • 66 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aldh3b2 31
  • 65 (a)
OneToMany
1700055N04Rik 31
  • 63 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ALDH3B2 31
  • 55 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 36 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 31
  • 48 (a)
ManyToMany
-- 31
  • 48 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 46 (a)
ManyToMany
-- 31
  • 46 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii aldh3b1 31
  • 44 (a)
OneToMany
-- 30
fruit fly
(Drosophila melanogaster)
Insecta Aldh-III 31 32
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea alh-5 31
  • 35 (a)
ManyToMany
alh-4 31
  • 34 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HFD1 31
  • 25 (a)
OneToMany
corn
(Zea mays)
Liliopsida Zm.17294 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6683 31
  • 34 (a)
ManyToMany
CSA.9635 31
  • 33 (a)
ManyToMany
Species where no ortholog for ALDH3B2 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ALDH3B2 Gene

ENSEMBL:
Gene Tree for ALDH3B2 (if available)
TreeFam:
Gene Tree for ALDH3B2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ALDH3B2: view image

Paralogs for ALDH3B2 Gene

(5) SIMAP similar genes for ALDH3B2 Gene using alignment to 4 proteins:

  • AL3B2_HUMAN
  • E9PJV0_HUMAN
  • E9PKY9_HUMAN
  • H0YEC0_HUMAN
genes like me logo Genes that share paralogs with ALDH3B2: view

Variants for ALDH3B2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ALDH3B2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs1551886 - p.His361Arg
rs1551888 - p.Ser52Asn
rs17856219 - p.Arg276Trp
rs2447571 - p.Ser220Gly
rs3741178 - p.Ala50Thr

Additional dbSNP identifiers (rs#s) for ALDH3B2 Gene

Structural Variations from Database of Genomic Variants (DGV) for ALDH3B2 Gene

Variant ID Type Subtype PubMed ID
dgv1214n100 CNV gain 25217958
dgv142e201 CNV deletion 23290073
dgv154n27 CNV loss 19166990
dgv1981n54 CNV gain 21841781
dgv1982n54 CNV loss 21841781
esv1206079 CNV deletion 17803354
esv2179266 CNV deletion 18987734
esv2422195 CNV duplication 17116639
esv2662033 CNV deletion 23128226
esv27185 CNV loss 19812545
esv2744645 CNV deletion 23290073
esv2744646 CNV deletion 23290073
esv2744648 CNV deletion 23290073
esv2744649 CNV deletion 23290073
esv3626717 CNV loss 21293372
nsv1078326 CNV duplication 25765185
nsv1141197 CNV duplication 24896259
nsv468606 CNV gain 19166990
nsv468609 CNV loss 19166990
nsv469963 CNV loss 18288195
nsv555273 CNV loss 21841781
nsv555274 CNV gain 21841781
nsv951024 CNV deletion 24416366

Variation tolerance for ALDH3B2 Gene

Residual Variation Intolerance Score: 99.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.59; 78.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALDH3B2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALDH3B2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALDH3B2 Gene

Disorders for ALDH3B2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ALDH3B2 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ALDH3B2

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 ALDH3B2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ALDH3B2 Gene

Publications for ALDH3B2 Gene

  1. Sequencing and expression of the human ALDH8 encoding a new member of the aldehyde dehydrogenase family. (PMID: 8890755) Hsu LC … Chang WC (Gene 1996) 2 3 4 54
  2. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A … Kamatani N (Journal of human genetics 2009) 3 41 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Human aldehyde dehydrogenase genes, ALDH7 and ALDH8: genomic organization and gene structure comparison. (PMID: 9161417) Hsu LC … Yoshida A (Gene 1997) 2 3 54

Products for ALDH3B2 Gene

Sources for ALDH3B2 Gene