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ALDH3B2 aldehyde dehydrogenase 3 family member B2 [ Homo sapiens (human) ]

Gene ID: 222, updated on 14-Nov-2024

Summary

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Official Symbol
ALDH3B2provided by HGNC
Official Full Name
aldehyde dehydrogenase 3 family member B2provided by HGNC
Primary source
HGNC:HGNC:411
See related
Ensembl:ENSG00000132746 MIM:601917; AllianceGenome:HGNC:411
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
ALDH8
Summary
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]
Expression
Biased expression in skin (RPKM 44.3), esophagus (RPKM 44.2) and 3 other tissues See more
Orthologs
all
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Genomic context

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See ALDH3B2 in Genome Data Viewer
Location:
11q13.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (67662155..67681252, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (67657144..67676182, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67429626..67448723, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67399437-67399966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67400495-67401024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67401025-67401552 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67401848-67402406 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67402407-67402965 Neighboring gene T-box transcription factor 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67411697-67412266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67412267-67412834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5118 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67416073-67416595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5122 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5123 Neighboring gene aminoacylase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5125 Neighboring gene ribosomal protein L37 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67477612-67478196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67478197-67478780 Neighboring gene unc-93 homolog B5 (pseudogene)

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Cloning and characterization of genes encoding four additional human aldehyde dehydrogenase isozymes. Hsu LC, et al. Adv Exp Med Biol, 1995. PMID 7484374
  2. Detection of ALDH3B2 in Human Placenta. Michorowska S, et al. Int J Mol Sci, 2019 Dec 13. PMID 31847104, Free PMC Article
  3. Sequencing and expression of the human ALDH8 encoding a new member of the aldehyde dehydrogenase family. Hsu LC, et al. Gene, 1996 Oct 3. PMID 8890755
  4. Spermatozoa from males with reduced fecundity exhibit differential DNA methylation patterns. Laqqan M, et al. Andrology, 2017 Sep. PMID 28544631
  5. Aldehyde dehydrogenase 3B2 promotes the proliferation and invasion of cholangiocarcinoma by increasing Integrin Beta 1 expression. Wang Y, et al. Cell Death Dis, 2021 Dec 14. PMID 34907179, Free PMC Article

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

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

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

Homology

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(P)+] activity EXP
Inferred from Experiment
more info
 PubMed 
enables long-chain fatty aldehyde dehydrogenase (NAD+) activity IEA
Inferred from Electronic Annotation
more info
  
enables medium-chain fatty aldehyde dehydrogenase (NAD+) activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in alcohol metabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in aldehyde metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in ethanol catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in lipid metabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in sphingolipid catabolic process TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in lipid droplet TAS
Traceable Author Statement
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
aldehyde dehydrogenase family 3 member B2
Names
acetaldehyde dehydrogenase 8
aldehyde dehydrogenase 8
NP_001026786.3
NP_001341274.2
NP_001380329.1
NP_001380330.1
NP_001380331.1
XP_047282517.1
XP_047282518.1
XP_047282519.1
XP_047282520.1
XP_047282521.1
XP_054224014.1
XP_054224015.1
XP_054224016.1
XP_054224017.1
XP_054224018.1
XP_054224019.1
XP_054224020.1
XP_054224021.1

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

  1. NG_012255.3 RefSeqGene

    Range
    11629..24097
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001031615.3 → NP_001026786.3  aldehyde dehydrogenase family 3 member B2 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 3. Variants 2-5 all encode the same isoform (a).
    Source sequence(s)
    AP003385
    Consensus CDS
    CCDS31622.1
    UniProtKB/Swiss-Prot
    P48448, Q53Y98, Q8NAL5, Q96IB2
    Related
    ENSP00000431595.1, ENST00000530069.6
    Conserved Domains (1) summary
    cl11961
    Location:1 → 366
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

  2. NM_001354345.3 → NP_001341274.2  aldehyde dehydrogenase family 3 member B2 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) encodes the longer isoform (a). Variants 2-5 all encode the same isoform (a).
    Source sequence(s)
    AP003385
    Consensus CDS
    CCDS31622.1
    UniProtKB/Swiss-Prot
    P48448, Q53Y98, Q8NAL5, Q96IB2
    Conserved Domains (1) summary
    cl11961
    Location:1 → 366
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

  3. NM_001393400.1 → NP_001380329.1  aldehyde dehydrogenase family 3 member B2 isoform a

    Status: REVIEWED

    Source sequence(s)
    AP003385
    Consensus CDS
    CCDS31622.1
    UniProtKB/Swiss-Prot
    P48448, Q53Y98, Q8NAL5, Q96IB2
    Conserved Domains (1) summary
    cl11961
    Location:1 → 366
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

  4. NM_001393401.1 → NP_001380330.1  aldehyde dehydrogenase family 3 member B2 isoform b

    Status: REVIEWED

    Source sequence(s)
    AP003385
    Conserved Domains (1) summary
    cl11961
    Location:1 → 291
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

  5. NM_001393402.2 → NP_001380331.1  aldehyde dehydrogenase family 3 member B2 isoform a

    Status: REVIEWED

    Source sequence(s)
    AP003385
    Consensus CDS
    CCDS31622.1
    UniProtKB/Swiss-Prot
    P48448, Q53Y98, Q8NAL5, Q96IB2
    Related
    ENSP00000501254.1, ENST00000673966.2
    Conserved Domains (1) summary
    cl11961
    Location:1 → 366
    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

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    67662155..67681252 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047426565.1 → XP_047282521.1  aldehyde dehydrogenase family 3 member B2 isoform X2

  2. XM_047426561.1 → XP_047282517.1  aldehyde dehydrogenase family 3 member B2 isoform X1

    UniProtKB/Swiss-Prot
    P48448, Q53Y98, Q8NAL5, Q96IB2

  3. XM_047426564.1 → XP_047282520.1  aldehyde dehydrogenase family 3 member B2 isoform X2

  4. XM_047426563.1 → XP_047282519.1  aldehyde dehydrogenase family 3 member B2 isoform X1

    UniProtKB/Swiss-Prot
    P48448, Q53Y98, Q8NAL5, Q96IB2

  5. XM_047426562.1 → XP_047282518.1  aldehyde dehydrogenase family 3 member B2 isoform X1

    UniProtKB/Swiss-Prot
    P48448, Q53Y98, Q8NAL5, Q96IB2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    67657144..67676182 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368046.1 → XP_054224021.1  aldehyde dehydrogenase family 3 member B2 isoform X2

  2. XM_054368041.1 → XP_054224016.1  aldehyde dehydrogenase family 3 member B2 isoform X1

  3. XM_054368044.1 → XP_054224019.1  aldehyde dehydrogenase family 3 member B2 isoform X2

  4. XM_054368045.1 → XP_054224020.1  aldehyde dehydrogenase family 3 member B2 isoform X2

  5. XM_054368040.1 → XP_054224015.1  aldehyde dehydrogenase family 3 member B2 isoform X1

  6. XM_054368039.1 → XP_054224014.1  aldehyde dehydrogenase family 3 member B2 isoform X1

  7. XM_054368043.1 → XP_054224018.1  aldehyde dehydrogenase family 3 member B2 isoform X1

  8. XM_054368042.1 → XP_054224017.1  aldehyde dehydrogenase family 3 member B2 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_000695.3: Suppressed sequence

    Description
    NM_000695.3: This RefSeq was removed because currently there is insufficient support for the transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P48448.3 GenPept UniProtKB/Swiss-Prot:P48448

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