KIF24

kinesin family member 24, the group of Small nucleolar RNA protein coding host genes|Kinesins|Sterile alpha motif domain containing

Basic information

Region (hg38): 9:34252380-34329268

Previous symbols: [ "C9orf48" ]

Links

ENSG00000186638 ∙ NCBI:347240 ∙ OMIM:613747 ∙ HGNC:19916 ∙ Uniprot:Q5T7B8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• schizophrenia (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KIF24 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIF24 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				1	3	4
missense			67	5	7	79
nonsense						0
start loss						0
frameshift					1	1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	67	6	11

Variants in KIF24

This is a list of pathogenic ClinVar variants found in the KIF24 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-34254432-T-G		not specified	Uncertain significance (Mar 27, 2023)
9-34254450-C-T		not specified	Uncertain significance (Jul 06, 2021)
9-34254472-A-G		not specified	Uncertain significance (Mar 20, 2024)
9-34254477-A-G		not specified	Uncertain significance (Feb 13, 2024)
9-34254498-T-C		not specified	Uncertain significance (Jun 17, 2024)
9-34255065-T-C			Benign (Dec 31, 2019)
9-34255163-T-C		not specified	Uncertain significance (Jul 05, 2023)
9-34255784-A-T		not specified	Uncertain significance (Apr 16, 2024)
9-34255814-T-C		not specified	Uncertain significance (Jan 23, 2024)
9-34255825-C-G			Benign (Dec 31, 2019)
9-34255834-G-A		not specified	Uncertain significance (May 24, 2023)
9-34255865-T-G		not specified	Uncertain significance (Mar 01, 2023)
9-34255990-A-C			Benign (Jul 01, 2024)
9-34256011-A-G		not specified	Uncertain significance (Mar 31, 2022)
9-34256024-T-C		not specified	Uncertain significance (Jul 05, 2023)
9-34256030-T-G		not specified	Likely benign (Aug 02, 2022)
9-34256061-A-T		not specified	Uncertain significance (Apr 19, 2024)
9-34256071-G-A		not specified	Uncertain significance (Dec 16, 2023)
9-34256267-G-C		not specified	Uncertain significance (Jan 22, 2024)
9-34256312-G-T		not specified	Uncertain significance (Jul 07, 2022)
9-34256368-A-G		not specified	Uncertain significance (May 08, 2023)
9-34256404-G-A		not specified	Likely benign (Jul 20, 2022)
9-34256407-G-A		not specified	Uncertain significance (Nov 07, 2023)
9-34256444-A-T		not specified	Uncertain significance (Mar 01, 2024)
9-34256446-A-G		not specified	Uncertain significance (Dec 21, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIF24	protein_coding	protein_coding	ENST00000379166	12	76820

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.39e-17	0.883	124696	13	884	125593	0.00358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.712	675	729	0.926	0.0000382	8946
Missense in Polyphen		196	198.1	0.98942		2517
Synonymous	0.0119	277	277	0.999	0.0000147	2727
Loss of Function	2.23	35	52.4	0.668	0.00000280	635

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0200	0.0200
Ashkenazi Jewish	0.000199	0.000199
East Asian	0.00183	0.00180
Finnish	0.000370	0.000370
European (Non-Finnish)	0.00143	0.00141
Middle Eastern	0.00183	0.00180
South Asian	0.000824	0.000817
Other	0.00316	0.00310

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Microtubule-dependent motor protein that acts as a negative regulator of ciliogenesis by mediating recruitment of CCP110 to mother centriole in cycling cells, leading to restrict nucleation of cilia at centrioles. Mediates depolymerization of microtubules of centriolar origin, possibly to suppress aberrant cilia formation (PubMed:21620453). Following activation by NEK2 involved in disassembly of primary cilium during G2/M phase but does not disassemble fully formed ciliary axonemes. As cilium assembly and disassembly is proposed to coexist in a dynamic equilibrium may suppress nascent cilium assembly and, potentially, ciliar re-assembly in cells that have already disassembled their cilia ensuring the completion of cilium removal in the later stages of the cell cycle (PubMed:26290419). {ECO:0000269|PubMed:21620453}.
• Pathway: Anchoring of the basal body to the plasma membrane;Cilium Assembly;Organelle biogenesis and maintenance (Consensus)

Intolerance Scores

• loftool: 0.959
• rvis_EVS: 0.55
• rvis_percentile_EVS: 81.23

Haploinsufficiency Scores

• pHI: 0.470
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.428

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kif24

Gene ontology

• Biological process: microtubule-based movement;microtubule depolymerization;cilium assembly;ciliary basal body-plasma membrane docking
• Cellular component: centriole;cytosol;kinesin complex;microtubule;protein-containing complex
• Molecular function: microtubule motor activity;protein binding;ATP binding;microtubule binding;ATPase activity;identical protein binding