NAT8B

N-acetyltransferase 8B (putative, gene/pseudogene)

Basic information

Region (hg38): 2:73700576-73701340

Links

ENSG00000204872 ∙ NCBI:51471 ∙ OMIM:608190 ∙ HGNC:30235 ∙ Uniprot:Q9UHF3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NAT8B gene.

• Inborn genetic diseases (23 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NAT8B gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			17	6		23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	6	0

Variants in NAT8B

This is a list of pathogenic ClinVar variants found in the NAT8B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-73700630-G-T		not specified	Uncertain significance (Jul 10, 2024)
2-73700639-G-C		not specified	Uncertain significance (Dec 25, 2024)
2-73700659-A-T		not specified	Uncertain significance (Jan 08, 2025)
2-73700677-A-C		not specified	Uncertain significance (Jul 28, 2021)
2-73700678-G-A		not specified	Uncertain significance (Apr 06, 2023)
2-73700688-C-G		not specified	Uncertain significance (Aug 20, 2024)
2-73700749-C-G		not specified	Likely benign (Aug 11, 2022)
2-73700753-T-G		not specified	Likely benign (Oct 05, 2023)
2-73700789-C-T		not specified	Uncertain significance (Jan 01, 2025)
2-73700790-T-A		not specified	Uncertain significance (Jan 01, 2025)
2-73700810-G-A		not specified	Uncertain significance (Mar 15, 2024)
2-73700815-A-G		not specified	Uncertain significance (Dec 24, 2024)
2-73700855-G-T		not specified	Uncertain significance (Jan 31, 2023)
2-73700860-C-T		not specified	Uncertain significance (Feb 26, 2025)
2-73700862-G-C		not specified	Uncertain significance (Mar 04, 2024)
2-73700899-C-T		not specified	Likely benign (Mar 14, 2023)
2-73700965-G-T		not specified	Uncertain significance (Feb 03, 2022)
2-73700992-C-A		not specified	Uncertain significance (Mar 23, 2023)
2-73700993-A-G		not specified	Likely benign (Jul 10, 2024)
2-73701026-T-C		not specified	Uncertain significance (Mar 21, 2023)
2-73701034-C-T		not specified	Uncertain significance (May 18, 2022)
2-73701043-A-G		not specified	Likely benign (Aug 21, 2023)
2-73701049-A-G		not specified	Uncertain significance (Jun 02, 2023)
2-73701053-A-T		not specified	Uncertain significance (Nov 15, 2023)
2-73701058-G-A		not specified	Likely benign (Jan 04, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May have a lysine N-acetyltransferase activity catalyzing peptidyl-lysine N6-acetylation of various proteins. Thereby, may regulate apoptosis through the acetylation and the regulation of the expression of PROM1 (PubMed:24556617). May also regulate amyloid beta-peptide secretion through acetylation of BACE1 and the regulation of its expression in neurons (PubMed:19011241). {ECO:0000269|PubMed:19011241, ECO:0000269|PubMed:24556617}.
• Pathway: Glutathione metabolism - Homo sapiens (human);Metabolism of proteins;Amyloid fiber formation (Consensus)

Mouse Genome Informatics

• Gene name: Nat8

Gene ontology

• Biological process: gastrulation with mouth forming second;positive regulation of gene expression;peptidyl-lysine N6-acetylation;negative regulation of apoptotic process;cellular protein metabolic process;amyloid-beta metabolic process
• Cellular component: endoplasmic reticulum membrane;endoplasmic reticulum-Golgi intermediate compartment;integral component of membrane;endoplasmic reticulum-Golgi intermediate compartment membrane
• Molecular function: lysine N-acetyltransferase activity, acting on acetyl phosphate as donor;protein binding;N-acetyltransferase activity