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

Gene ID: 222, updated on 11-Jun-2021

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
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
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Genomic context

See ALDH3B2 in Genome Data Viewer
Location:
11q13.2
Exon count:
12
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (67662155..67681252, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67429626..67448695, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene T-box transcription factor 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 Apr 4 07:08:55 2018

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in alcohol metabolic process TAS
Traceable Author Statement
more info
PubMed 
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 biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
located_in 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_001026786.3
NP_001341274.2
NP_001380329.1
NP_001380330.1
NP_001380331.1

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_012255.2 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001031615.3NP_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
    Related
    ENSP00000431595.1, ENST00000530069.6
    Conserved Domains (1) summary
    cl11961
    Location:1366
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
  2. NM_001354345.3NP_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
    Conserved Domains (1) summary
    cl11961
    Location:1366
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
  3. NM_001393400.1NP_001380329.1  aldehyde dehydrogenase family 3 member B2 isoform a

    Status: REVIEWED

    Source sequence(s)
    AP003385
    Conserved Domains (1) summary
    cl11961
    Location:1366
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
  4. NM_001393401.1NP_001380330.1  aldehyde dehydrogenase family 3 member B2 isoform b

    Status: REVIEWED

    Source sequence(s)
    AP003385
    Conserved Domains (1) summary
    cl11961
    Location:1291
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
  5. NM_001393402.2NP_001380331.1  aldehyde dehydrogenase family 3 member B2 isoform a

    Status: REVIEWED

    Source sequence(s)
    AP003385
    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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    67662155..67681252 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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