KCTD8

potassium channel tetramerization domain containing 8, the group of KCTD family

Basic information

Region (hg38): 4:44173902-44448809

Links

ENSG00000183783 ∙ NCBI:386617 ∙ OMIM:618442 ∙ HGNC:22394 ∙ Uniprot:Q6ZWB6 ∙ 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 KCTD8 gene.

• Inborn genetic diseases (19 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCTD8 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			17	2		19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	2	0

Variants in KCTD8

This is a list of pathogenic ClinVar variants found in the KCTD8 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-44174831-G-A		not specified	Uncertain significance (Dec 14, 2023)
4-44174837-G-A		not specified	Uncertain significance (Mar 24, 2023)
4-44174900-C-T		not specified	Uncertain significance (Sep 22, 2023)
4-44175002-G-T		not specified	Uncertain significance (Sep 20, 2023)
4-44175008-G-A		not specified	Uncertain significance (Sep 19, 2022)
4-44175041-G-A		not specified	Uncertain significance (Jul 16, 2021)
4-44175098-T-C		not specified	Uncertain significance (May 10, 2022)
4-44447631-G-A		not specified	Uncertain significance (Jun 06, 2023)
4-44447740-G-A		not specified	Uncertain significance (Jul 14, 2023)
4-44447764-C-G		not specified	Uncertain significance (Dec 13, 2022)
4-44447776-C-T		not specified	Uncertain significance (Nov 30, 2022)
4-44447802-A-C		not specified	Uncertain significance (Dec 12, 2023)
4-44447875-A-G		not specified	Uncertain significance (Dec 13, 2021)
4-44447917-C-A		not specified	Uncertain significance (Nov 08, 2022)
4-44447949-G-A		not specified	Likely benign (Jul 26, 2023)
4-44447967-A-G		not specified	Likely benign (Apr 07, 2023)
4-44448037-T-C		not specified	Uncertain significance (Sep 26, 2022)
4-44448045-C-A		not specified	Uncertain significance (Dec 18, 2023)
4-44448114-A-T		not specified	Uncertain significance (Jul 13, 2021)
4-44448160-C-T		not specified	Uncertain significance (Jan 22, 2024)
4-44448193-C-A		not specified	Uncertain significance (Apr 07, 2022)
4-44448306-A-G		not specified	Uncertain significance (Apr 22, 2022)
4-44448310-T-C		not specified	Uncertain significance (Dec 07, 2021)
4-44448360-T-G		not specified	Uncertain significance (Nov 10, 2022)
4-44448403-G-A		not specified	Uncertain significance (Mar 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KCTD8	protein_coding	protein_coding	ENST00000360029	2	274899

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000375	0.851	125738	0	10	125748	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.513	233	256	0.910	0.0000122	3038
Missense in Polyphen		88	108.8	0.80879		1268
Synonymous	0.267	105	109	0.967	0.00000510	952
Loss of Function	1.29	7	11.8	0.595	5.08e-7	153

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000296	0.0000296
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000634	0.0000615
Middle Eastern	0.00	0.00
South Asian	0.0000659	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Auxiliary subunit of GABA-B receptors that determine the pharmacology and kinetics of the receptor response. Increases agonist potency and markedly alter the G-protein signaling of the receptors by accelerating onset and promoting desensitization (By similarity). {ECO:0000250}.

Intolerance Scores

• loftool: 0.355
• rvis_EVS: -0.43
• rvis_percentile_EVS: 25.15

Haploinsufficiency Scores

• pHI: 0.431
• hipred: Y
• hipred_score: 0.697
• ghis: 0.610

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.540

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kctd8

Gene ontology

• Biological process: regulation of G protein-coupled receptor signaling pathway;protein homooligomerization
• Cellular component: cell junction;presynaptic membrane;receptor complex;postsynaptic membrane