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. These statistics are base on transcript: . Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			17 clinvar	6 clinvar		23
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	17	6	0

Loading clinvar variants...

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
Phenotype

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