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

    Gene ID: 222, updated on 10-Dec-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
    • 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
    long-chain fatty aldehyde dehydrogenase
    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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