KCTD18

protein-coding

potassium channel tetramerization domain containing 18, the group of KCTD family

Gene summary

Predicted to enable identical protein binding activity. Predicted to be involved in monoatomic ion transmembrane transport and protein homooligomerization. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_152387.4

Inheritance

—

ClinVar variants

U:78B:20

Top phenotype

KCTD18-related disorder

gnomAD constraint

pLI —, LoF o/e 0.88

Max pathogenic AF

—

Genomic locus

chr2:200,488,958-200,519,784

External References & Databases

Ensembl (ENSG00000155729)

Transcript & Mutation Effects

hg38 • Region Span ~30.8 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 KCTD18 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 76

KCTD18-related disorderTotal: 14

not providedTotal: 6

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_152387.4. 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				6 clinvar	3 clinvar	9
missense			78 clinvar	5 clinvar	5 clinvar	88
nonsense						0
start loss						0
frameshift					1 clinvar	1
splice donor/acceptor (+/-2bp)						0
Total	0	0	78	11	9	98

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 19 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_152387.4	RefSeq	NP_689600.2	6	MANE Select
ENST00000359878.8	Ensembl	ENSP00000352941.3	6	MANE Select
NM_001321547.2	RefSeq	NP_001308476.1	6	Standard
NM_001321548.2	RefSeq	NP_001308477.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein homooligomerization

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000359878
Coding exons: 6
Length: 30833
Individuals with no LoFs: 125723
Homozygous LoFs: 0
Heterozygous LoFs: 25
Defined: 125748
p: 0.0000994

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.372	251	268	0.936	0.0000169	2734
Missense (PolyPhen)		67	77.53	0.86419		836
Synonymous	0.00246	106	106	1.00	0.00000697	887
Loss of Function	0.411	12	13.6	0.880	6.58e-7	174

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00017	0.00016	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000088	0.000088	rare
South Asian	0.00023	0.00023	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.512
RVIS EVS: 0.62
RVIS percentile EVS: 83.42

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.330

Gene Damage Prediction

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