GeneBe

KAT8

protein-coding

lysine acetyltransferase 8, the group of Zinc fingers C2HC-type|NSL histone acetyltransferase complex|MSL histone acetyltransferase complex|MYST type domain containing lysine acetyltransferases

Gene summary

This gene encodes a member of the MYST histone acetylase protein family. The encoded protein has a characteristic MYST domain containing an acetyl-CoA-binding site, a chromodomain typical of proteins which bind histones, and a C2HC-type zinc finger. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

Previous symbols:
  • MYST1

MANE transcript

NM_032188.3

Inheritance

AD, AR

ClinVar variants

P:11U:130B:13

Top phenotype

Li-Ghorbani-Weisz-Hubshman

gnomAD constraint

pLI —, LoF o/e 0.24

Max pathogenic AF

—

Genomic locus

chr16:31,114,489-31,131,393

External References & Databases

Ensembl (ENSG00000103510)NCBI Gene (84148)OMIM (609912)HGNC:17933GenCCUniProt (Q9H7Z6)AlphaFoldClinVar (KAT8)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~16.9 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

Li-Ghorbani-Weisz-Hubshman syndromeMODERATE

Inheritance Pattern: AD

Disease ID:MONDO:0033547

Submitter: Ambry Genetics

Li-Ghorbani-Weisz-Hubshman syndromeLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0033547

Submitter: Labcorp Genetics (formerly Invitae)

Li-Ghorbani-Weisz-Hubshman syndromeSTRONG

Inheritance Pattern: AD

Disease ID:MONDO:0033547

Submitter: Labcorp Genetics (formerly Invitae)

Li-Ghorbani-Weisz-Hubshman syndromeSTRONG

Inheritance Pattern: AD

Disease ID:MONDO:0033547

Submitter: PanelApp Australia

Clinical Genomic Database (CGD)

Li-Ghorbani-Weisz-HubshmanAD

Manifestation: Craniofacial; Musculoskeletal; Neurologic; Ophthalmologic

Intervention: General

Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing

Refs: 31794431Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to KAT8 variants in ClinVar

6 Conditions Cataloged
not providedTotal: 81
Inborn genetic diseasesTotal: 53
Li-Ghorbani-Weisz-Hubshman syndromeTotal: 26
not specifiedTotal: 11
KAT8-related disorderTotal: 9
Paediatric disordersTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032188.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
2
clinvar
10
clinvar
 12
missense
6
clinvar
5
clinvar
108
clinvar
3
clinvar
 122
nonsense
4
clinvar
 4
start loss
0
frameshift
6
clinvar
 6
splice donor/acceptor (+/-2bp)
10
clinvar
 10
Total65130130154

Highest pathogenic variant AF is 6.841967e-7

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 16 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_032188.3RefSeqNP_115564.211MANE Select
ENST00000219797.9EnsemblENSP00000219797.311MANE Select
NM_182958.4RefSeqNP_892003.210Standard
ENST00000448516.6EnsemblENSP00000406037.210Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / ModelOrganismObserved Phenotype
kat8Danio rerio

Structure: primitive hemopoiesis

Quality: decreased occurrence

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • Chromatin modifying enzymes
  • HATs acetylate histones
  • Chromatin organization
  • p53 pathway

Biological Process

  • regulation of autophagy
  • histone acetylation
  • myeloid cell differentiation
  • histone H4-K5 acetylation
  • histone H4-K8 acetylation

Molecular Function

  • histone acetyltransferase activity
  • protein binding
  • transcription factor binding
  • acetyltransferase activity
  • enzyme binding

Cellular Component

  • histone acetyltransferase complex
  • kinetochore
  • nuclear chromatin
  • nucleus
  • nucleoplasm

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000448516
Coding exons
10
Length
15640
Individuals with no LoFs
125737
Homozygous LoFs
0
Heterozygous LoFs
11
Defined
125748
p
0.0000437
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense3.151182610.4520.00001613007
Missense (PolyPhen)2888.6220.31595950
Synonymous0.2001041070.9750.00000671901
Loss of Function3.49624.70.2430.00000121283

Population LoF Frequency

PopulationCAFp-valueStatus
African0.000120.00012rare
Latino/Admixed American00.0absent
Ashkenazi Jewish00.0absent
East Asian00.0absent
Finnish00.0absent
European (Non-Finnish)0.0000620.000062rare
South Asian0.0000650.000065rare
Other00.0absent

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: Histone acetyltransferase which may be involved in transcriptional activation. May influence the function of ATM. As part of the MSL complex it is involved in acetylation of nucleosomal histone H4 producing specifically H4K16ac. As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues. That activity is less specific than the one of the MSL complex. Can also acetylate TP53/p53 at 'Lys-120'. {ECO:0000269|PubMed:12397079, ECO:0000269|PubMed:15923642, ECO:0000269|PubMed:20018852, ECO:0000269|PubMed:21217699, ECO:0000269|PubMed:22020126, ECO:0000269|PubMed:22547026}.;

Recessive Scores

pRec
0.112

Intolerance Scores

RVIS EVS
-0.25
RVIS percentile EVS
35.42

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
E
Essential (gene trap)
E
Indispensability pred.
N
Indispensability score
0.114

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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