ZDHHC8

protein-coding

zinc finger DHHC-type palmitoyltransferase 8, the group of Zinc fingers DHHC-type

Gene summary

This gene encodes a four transmembrane protein that is a member of the zinc finger DHHC domain-containing protein family. The encoded protein may function as a palmitoyltransferase. Defects in this gene may be associated with a susceptibility to schizophrenia. Alternate splicing of this gene results in multiple transcript variants. A pseudogene of this gene is found on chromosome 22.[provided by RefSeq, May 2010]

MANE transcript

NM_013373.4

Inheritance

—

ClinVar variants

U:138B:5

Top phenotype

Prostate cancer

gnomAD constraint

pLI —, LoF o/e 0.18

Max pathogenic AF

—

Genomic locus

chr22:20,129,456-20,148,007

External References & Databases

Ensembl (ENSG00000099904)

Transcript & Mutation Effects

hg38 • Region Span ~18.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ZDHHC8 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 133

not providedTotal: 3

Prostate cancerTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_013373.4. 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.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	2 clinvar		3
missense			136 clinvar	3 clinvar		139
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	138	5	0	143

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 27 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_013373.4	RefSeq	NP_037505.1	11	MANE Select
ENST00000334554.12	Ensembl	ENSP00000334490.7	11	MANE Select
NM_001185024.2	RefSeq	NP_001171953.1	11	Standard
ENST00000320602.11	Ensembl	ENSP00000317804.7	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

HDL assembly
Plasma lipoprotein assembly
Transport of small molecules
Plasma lipoprotein assembly, remodeling, and clearance

Biological Process

locomotory behavior
protein palmitoylation
high-density lipoprotein particle assembly

Molecular Function

palmitoyltransferase activity
protein-cysteine S-palmitoyltransferase activity

Cellular Component

mitochondrion
Golgi apparatus
cytosol
integral component of membrane
cytoplasmic vesicle membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000405930
Coding exons: 11
Length: 18552
Individuals with no LoFs: 125645
Homozygous LoFs: 0
Heterozygous LoFs: 11
Defined: 125656
p: 0.0000438

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.85	403	522	0.772	0.0000368	4908
Missense (PolyPhen)		178	257.16	0.69217		2491
Synonymous	-1.53	264	234	1.13	0.0000172	1748
Loss of Function	4.06	5	28.3	0.177	0.00000181	278

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000056	0.000054	rare
Finnish	0.000049	0.000046	rare
European (Non-Finnish)	0.000037	0.000035	rare
South Asian	0.00016	0.00013	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Palmitoyltransferase involved in glutamatergic transmission. Mediates palmitoylation of ABCA1. {ECO:0000269|PubMed:19556522}.;

Intolerance Scores

LoFtool: 0.277
RVIS EVS: -1.17
RVIS percentile EVS: 6.06

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.301

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium