ZDHHC22

zinc finger DHHC-type palmitoyltransferase 22, the group of Zinc fingers DHHC-type

Basic information

Region (hg38): 14:77131270-77142734

Previous symbols: [ "C14orf59" ]

Links

ENSG00000177108 ∙ NCBI:283576 ∙ ∙ HGNC:20106 ∙ Uniprot:Q8N966 ∙ 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 ZDHHC22 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZDHHC22 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			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	0

Variants in ZDHHC22

This is a list of pathogenic ClinVar variants found in the ZDHHC22 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-77133724-A-G		not specified	Uncertain significance (Sep 20, 2023)
14-77133808-C-A		not specified	Uncertain significance (Jul 15, 2021)
14-77133820-C-T		not specified	Uncertain significance (Nov 09, 2022)
14-77139317-A-G		not specified	Uncertain significance (Mar 31, 2022)
14-77139395-C-T		not specified	Uncertain significance (Mar 16, 2024)
14-77139479-G-A		not specified	Uncertain significance (Jan 05, 2022)
14-77139495-C-T		not specified	Likely benign (May 13, 2024)
14-77139549-T-C		not specified	Uncertain significance (Oct 02, 2023)
14-77139589-G-T		not specified	Uncertain significance (Nov 19, 2022)
14-77139590-T-C		not specified	Uncertain significance (Dec 21, 2023)
14-77139612-G-C		not specified	Uncertain significance (Apr 15, 2024)
14-77139672-A-G		not specified	Uncertain significance (Dec 16, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZDHHC22	protein_coding	protein_coding	ENST00000319374	2	11465

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0549	0.872	124536	0	8	124544	0.0000321

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.14	108	147	0.736	0.00000836	1648
Missense in Polyphen		24	40.32	0.59523		489
Synonymous	1.63	54	71.5	0.755	0.00000453	562
Loss of Function	1.50	3	7.38	0.406	4.03e-7	71

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000560	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.0000453	0.0000443
Middle Eastern	0.0000560	0.0000556
South Asian	0.0000673	0.0000654
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Palmitoyltransferase that mediates palmitoylation of KCNMA1, regulating localization of KCNMA1 to the plasma membrane (PubMed:22399288). Might also mediate palmitoylation of NOV/CNN3 (By similarity). {ECO:0000250|UniProtKB:A0PK84, ECO:0000269|PubMed:22399288}.

Intolerance Scores

• loftool: 0.466
• rvis_EVS: -0.23
• rvis_percentile_EVS: 36.86

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.450
• ghis: 0.669

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.267

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zdhhc22

Gene ontology

• Biological process: protein targeting to membrane;peptidyl-L-cysteine S-palmitoylation;protein palmitoylation;protein localization to plasma membrane
• Cellular component: endoplasmic reticulum;Golgi apparatus;plasma membrane;integral component of membrane
• Molecular function: protein binding;protein-cysteine S-palmitoyltransferase activity