KIF18A

protein-coding

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

Gene summary

KIF18A is a member of the kinesin superfamily of microtubule-associated molecular motors (see MIM 148760) that use hydrolysis of ATP to produce force and movement along microtubules (Luboshits and Benayahu, 2005 [PubMed 15878648]).[supplied by OMIM, Aug 2008]

MANE transcript

NM_031217.4

Inheritance

—

ClinVar variants

U:115B:8

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.31

Max pathogenic AF

—

Genomic locus

chr11:28,020,619-28,108,156

External References & Databases

Ensembl (ENSG00000121621)

Transcript & Mutation Effects

hg38 • Region Span ~87.5 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 KIF18A variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 113

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_031217.4. 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			2 clinvar	1 clinvar		3
missense			109 clinvar	7 clinvar		116
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	115	8	0	123

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 25 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_031217.4	RefSeq	NP_112494.3	16	MANE Select
ENST00000263181.7	Ensembl	ENSP00000263181.6	16	MANE Select
ENST00000903297.1	Ensembl	ENSP00000573356.1	16	Standard
ENST00000903298.1	Ensembl	ENSP00000573357.1	15	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Signal Transduction
Vesicle-mediated transport
Membrane Trafficking
Kinesins
Factors involved in megakaryocyte development and platelet production

Biological Process

mitotic sister chromatid segregation
retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum
microtubule-based movement
microtubule depolymerization
mitotic metaphase plate congression

Molecular Function

microtubule motor activity
actin binding
protein binding
ATP binding
microtubule binding

Cellular Component

kinetochore
ruffle
nucleus
cytoplasm
microtubule organizing center

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000263181
Coding exons: 16
Length: 87689
Individuals with no LoFs: 125708
Homozygous LoFs: 0
Heterozygous LoFs: 40
Defined: 125748
p: 0.000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.545	433	466	0.929	0.0000243	5921
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00018	rare
Latino/Admixed American	0.000092	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0.000093	0.000092	rare
European (Non-Finnish)	0.00021	0.00021	rare
South Asian	0.00020	0.00020	rare
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec: 0.0940

Intolerance Scores

LoFtool: 0.799
RVIS EVS: 0.07
RVIS percentile EVS: 59.04

Essentials

Essential (CRISPR): E
Essential (CRISPR2): E
Essential (gene trap): E
Indispensability pred.: N
Indispensability score: 0.145

Gene Damage Prediction

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