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

    Gene ID: 222, updated on 5-Aug-2018

    Summary

    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; Vega:OTTHUMG00000167284
    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

    Genomic context

    See ALDH3B2 in Genome Data Viewer
    Location:
    11q13.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (67662162..67681224, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67429633..67448685, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene T-box 10 Neighboring gene aminoacylase 3 Neighboring gene ribosomal protein L37 pseudogene 2 Neighboring gene unc-93 homolog B5, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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 Jun 15 11:32:44 2016

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    3-chloroallyl aldehyde dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    3-chloroallyl aldehyde dehydrogenase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    aldehyde dehydrogenase [NAD(P)+] activity EXP
    Inferred from Experiment
    more info
    PubMed 
    Process Evidence Code Pubs
    alcohol metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    ethanol catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    lipid metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    sphingolipid biosynthetic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    lipid droplet TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    aldehyde dehydrogenase family 3 member B2
    Names
    acetaldehyde dehydrogenase 8
    aldehyde dehydrogenase 8
    NP_001026786.2
    NP_001341274.1

    NCBI Reference Sequences (RefSeq)

    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_012255.2 RefSeqGene

      Range
      5001..24063
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001031615.2NP_001026786.2  aldehyde dehydrogenase family 3 member B2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the shorter transcript. Both variant 1 and 2 encode the same protein.
      Source sequence(s)
      AK092464, AP003385, BC007685, BG009508, DA850267
      Consensus CDS
      CCDS31622.1
      Related
      ENSP00000431595.1, ENST00000530069.5
      Conserved Domains (1) summary
      cl11961
      Location:1366
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
    2. NM_001354345.1NP_001341274.1  aldehyde dehydrogenase family 3 member B2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Both variants 1 and 3 encode the same protein.
      Source sequence(s)
      AK092464, AP003385, BC007685, DA999593, DB008997
      Consensus CDS
      CCDS31622.1
      Related
      ENSP00000255084.3, ENST00000349015.7
      Conserved Domains (1) summary
      cl11961
      Location:1366
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

      Range
      67662162..67681224 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    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.
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