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    NAT8B N-acetyltransferase 8B (putative, gene/pseudogene) [ Homo sapiens (human) ]

    Gene ID: 51471, updated on 9-Dec-2024

    Summary

    Official Symbol
    NAT8Bprovided by HGNC
    Official Full Name
    N-acetyltransferase 8B (putative, gene/pseudogene)provided by HGNC
    Primary source
    HGNC:HGNC:30235
    See related
    MIM:608190; AllianceGenome:HGNC:30235
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CML2; Hcml2; NAT8BP
    Summary
    This gene is highly similar to the N-acetyltransferase 8 (NAT8) gene which encodes a kidney and liver protein with homology to bacterial acetyltransferases involved in drug resistance. This gene is localized on chromosome 2 in the vicinity of the NAT8 gene and represents a human-specific transcribed pseudogene of NAT8. This gene contains two common polymorphic nonsense mutations that disrupt the active site of the protein. In the extremely rare event when both nonsense mutations are absent, the predicted protein would contain a complete acetyltransferase domain and would be identical in length to NAT8. [provided by RefSeq, Apr 2022]
    Orthologs
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    Genomic context

    See NAT8B in Genome Data Viewer
    Location:
    2p13.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (73700509..73702125, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (73713618..73715234, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (73927636..73929252, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ALMS1 pseudogene 1 Neighboring gene uncharacterized LOC112268418 Neighboring gene Sharpr-MPRA regulatory region 15607 Neighboring gene uncharacterized LOC124907848 Neighboring gene uncharacterized LOC124905592

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genetic loci influencing kidney function and chronic kidney disease.
    EBI GWAS Catalog
    New loci associated with kidney function and chronic kidney disease.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Other Names

    • ATase1
    • N-acetyltransferase 8B (GCN5-related, putative, gene/pseudogene)
    • N-acetyltransferase Camello 2
    • acetyltransferase 1
    • camello-like protein 2
    • probable N-acetyltransferase 8B
    • putative N-acetyltransferase 8B

    Clone Names

    • MGC97061

    Gene Ontology Provided by GOA

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    RNA

    1. NR_132338.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC092653

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      73700509..73702125 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791766.1 Reference GRCh38.p14 PATCHES

      Range
      370007..371623 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      73713618..73715234 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_016347.2: Suppressed sequence

      Description
      NM_016347.2: This RefSeq was removed because currently there is support for the transcript but not for the protein.