KIF18A

kinesin family member 18A, the group of Protein phosphatase 1 regulatory subunits|Kinesins

Basic information

Region (hg38): 11:28020619-28108156

Links

ENSG00000121621 ∙ NCBI:81930 ∙ OMIM:611271 ∙ HGNC:29441 ∙ Uniprot:Q8NI77 ∙ 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 KIF18A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIF18A 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		1
missense			40	3	1	44
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	40	4	1

Variants in KIF18A

This is a list of pathogenic ClinVar variants found in the KIF18A region.

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

Position	Type	Phenotype	Significance	ClinVar
11-28021241-T-C		not specified	Uncertain significance (Jun 21, 2023)
11-28021249-C-T		not specified	Likely benign (Oct 06, 2021)
11-28021252-G-A			Benign (Feb 25, 2018)
11-28023816-T-G		not specified	Uncertain significance (Jan 03, 2022)
11-28023820-G-A			Benign/Likely benign (Oct 01, 2022)
11-28036256-T-A		not specified	Uncertain significance (Mar 16, 2022)
11-28036297-T-C		not specified	Uncertain significance (Oct 10, 2023)
11-28036323-C-T		not specified	Uncertain significance (Feb 13, 2024)
11-28036335-C-T		not specified	Uncertain significance (Nov 27, 2023)
11-28036400-T-A		not specified	Uncertain significance (Dec 06, 2022)
11-28036445-A-G		not specified	Uncertain significance (Oct 29, 2021)
11-28036463-G-A		not specified	Uncertain significance (Jan 18, 2023)
11-28036487-T-C		not specified	Uncertain significance (Jan 16, 2024)
11-28036496-G-A		not specified	Uncertain significance (May 17, 2023)
11-28036505-A-G		not specified	Uncertain significance (May 17, 2023)
11-28036511-T-C		not specified	Uncertain significance (Jun 01, 2023)
11-28036574-T-C		not specified	Uncertain significance (Dec 13, 2022)
11-28036597-C-T		not specified	Uncertain significance (Apr 22, 2022)
11-28058939-C-G		not specified	Uncertain significance (Oct 04, 2022)
11-28058988-A-G		not specified	Likely benign (Feb 17, 2023)
11-28059079-A-T		not specified	Uncertain significance (May 30, 2023)
11-28059094-T-G		not specified	Uncertain significance (Nov 12, 2021)
11-28059123-T-C		not specified	Uncertain significance (Aug 11, 2022)
11-28062480-G-A		not specified	Uncertain significance (Jan 04, 2024)
11-28062491-T-C		not specified	Uncertain significance (May 15, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIF18A	protein_coding	protein_coding	ENST00000263181	16	87689

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00148	0.999	125708	0	40	125748	0.000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.545	433	466	0.929	0.0000243	5921
Missense in Polyphen		127	178.11	0.71305		2249
Synonymous	-0.281	165	160	1.03	0.00000824	1633
Loss of Function	4.36	14	45.9	0.305	0.00000252	585

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000280	0.000277
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000931	0.0000924
European (Non-Finnish)	0.000214	0.000211
Middle Eastern	0.0000544	0.0000544
South Asian	0.000198	0.000196
Other	0.000166	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Microtubule-depolymerizing kinesin which plays a role in chromosome congression by reducing the amplitude of preanaphase oscillations and slowing poleward movement during anaphase, thus suppressing chromosome movements. May stabilize the CENPE-BUB1B complex at the kinetochores during early mitosis and maintains CENPE levels at kinetochores during chromosome congression. {ECO:0000269|PubMed:17346968, ECO:0000269|PubMed:18267093, ECO:0000269|PubMed:18513970, ECO:0000269|PubMed:19625775}.
• Pathway: Signal Transduction;Vesicle-mediated transport;Membrane Trafficking;Kinesins;Factors involved in megakaryocyte development and platelet production;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;Amplification of signal from the kinetochores;Mitotic Spindle Checkpoint;Cell Cycle Checkpoints;RHO GTPases Activate Formins;RHO GTPase Effectors;Signaling by Rho GTPases;Hemostasis;COPI-dependent Golgi-to-ER retrograde traffic;Golgi-to-ER retrograde transport;Mitotic Prometaphase;Separation of Sister Chromatids;Mitotic Anaphase;Mitotic Metaphase and Anaphase;M Phase;Cell Cycle;Resolution of Sister Chromatid Cohesion;Cell Cycle, Mitotic;Intra-Golgi and retrograde Golgi-to-ER traffic (Consensus)

Recessive Scores

• pRec: 0.0940

Intolerance Scores

• loftool: 0.799
• rvis_EVS: 0.07
• rvis_percentile_EVS: 59.04

Haploinsufficiency Scores

• pHI: 0.530
• hipred: Y
• hipred_score: 0.532
• ghis: 0.627

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.145

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kif18a
• Phenotype: reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cellular phenotype; endocrine/exocrine gland phenotype

Gene ontology

• Biological process: mitotic sister chromatid segregation;retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;microtubule-based movement;microtubule depolymerization;mitotic metaphase plate congression;male meiotic nuclear division;protein transport;antigen processing and presentation of exogenous peptide antigen via MHC class II;regulation of microtubule cytoskeleton organization;cellular response to estradiol stimulus;seminiferous tubule development
• Cellular component: kinetochore;ruffle;nucleus;cytoplasm;microtubule organizing center;kinetochore microtubule;cytosol;kinesin complex;microtubule;caveola;microtubule cytoskeleton;mitotic spindle astral microtubule;mitotic spindle midzone
• Molecular function: microtubule motor activity;actin binding;protein binding;ATP binding;microtubule binding;ATP-dependent microtubule motor activity, plus-end-directed;ATPase activity;microtubule plus-end binding;tubulin-dependent ATPase activity