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

Gene ID: 51471, updated on 22-Sep-2022

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
Ensembl:ENSG00000204872 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:
1
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (73700509..73701340, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (73713618..73714449, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (73927636..73928467, 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

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

Homology

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)

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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.

RNA

  1. NR_132338.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC092653
    Related
    ENST00000377712.3

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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..73701340 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791766.1 Reference GRCh38.p14 PATCHES

    Range
    370007..370838 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    73713618..73714449 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.