CDK18

protein-coding

cyclin dependent kinase 18, the group of Cyclin dependent kinases

Gene summary

Predicted to enable cyclin-dependent protein serine/threonine kinase activity. Involved in positive regulation of myelination. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

PCTK3

MANE transcript

NM_212502.3

Inheritance

—

ClinVar variants

U:79B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.76

Max pathogenic AF

—

Genomic locus

chr1:205,504,596-205,532,793

External References & Databases

Ensembl (ENSG00000117266)

Transcript & Mutation Effects

hg38 • Region Span ~28.2 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 CDK18 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 75

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_212502.3. 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.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			70 clinvar	1 clinvar		71
nonsense			4 clinvar			4
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			5 clinvar			5
Total	0	0	79	2	0	81

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 56 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_212502.3	RefSeq	NP_997667.1	15	MANE Select
ENST00000429964.7	Ensembl	ENSP00000399082.2	15	MANE Select
NM_002596.4	RefSeq	NP_002587.2	15	Standard
NM_212503.3	RefSeq	NP_997668.1	15	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein phosphorylation
regulation of cell cycle

Molecular Function

protein serine/threonine kinase activity
cyclin-dependent protein serine/threonine kinase activity
protein binding
ATP binding

Cellular Component

cellular_component
nucleus
cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000506784
Coding exons: 15
Length: 28199
Individuals with no LoFs: 125646
Homozygous LoFs: 0
Heterozygous LoFs: 102
Defined: 125748
p: 0.000406

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.479	283	307	0.923	0.0000191	3249
Missense (PolyPhen)		96	105.94	0.90616		1144
Synonymous	1.54	100	122	0.822	0.00000712	989
Loss of Function	1.13	19	25.1	0.757	0.00000115	302

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00031	0.00031	rare
Latino/Admixed American	0.00041	0.00040	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.00033	0.00033	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.00061	0.00061	rare
South Asian	0.000098	0.000098	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in signal transduction cascades in terminally differentiated cells.;

Recessive Scores

pRec: 0.138

Intolerance Scores

LoFtool: 0.957
RVIS EVS: 0.2
RVIS percentile EVS: 67.3

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.539

Gene Damage Prediction

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