KIF18B

kinesin family member 18B, the group of Kinesins|MicroRNA protein coding host genes

Basic information

Region (hg38): 17:44924709-44947773

Links

ENSG00000186185

∙ NCBI:146909 ∙ OMIM:614570 ∙ HGNC:27102 ∙ Uniprot:Q86Y91 ∙ 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 KIF18B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIF18B 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 clinvar		1
missense			1 clinvar			1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	1	0

Variants in KIF18B

This is a list of pathogenic ClinVar variants found in the KIF18B region.

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

Position	Type	Phenotype	Significance	ClinVar
17-44928535-A-G			Likely benign (Feb 01, 2023)	2647844
17-44934241-C-T			Uncertain significance (Oct 01, 2022)	2647845

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIF18B	protein_coding	protein_coding	ENST00000593135	15	23006

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00231	0.998	124654	0	28	124682	0.000112

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.12	430	501	0.859	0.0000310	5410
Missense in Polyphen		146	191.83	0.76108		2066
Synonymous	0.312	202	208	0.973	0.0000125	1813
Loss of Function	3.64	11	33.8	0.325	0.00000163	404

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.00	0.00
East Asian	0.000112	0.000111
Finnish	0.00	0.00
European (Non-Finnish)	0.000208	0.000195
Middle Eastern	0.000112	0.000111
South Asian	0.0000671	0.0000654
Other	0.000170	0.000165

dbNSFP

Source: dbNSFP

Function: FUNCTION: In complex with KIF2C, constitutes the major microtubule plus-end depolymerizing activity in mitotic cells. Its major role may be to transport KIF2C and/or MAPRE1 along microtubules. {ECO:0000269|PubMed:20600703, ECO:0000269|PubMed:21820309}.;
Pathway: Vesicle-mediated transport;Membrane Trafficking;Kinesins;Factors involved in megakaryocyte development and platelet production;Hemostasis;COPI-dependent Golgi-to-ER retrograde traffic;Golgi-to-ER retrograde transport;Intra-Golgi and retrograde Golgi-to-ER traffic (Consensus)

Intolerance Scores

loftool
rvis_EVS: 0.47
rvis_percentile_EVS: 78.85

Haploinsufficiency Scores

pHI: 0.147
hipred: N
hipred_score: 0.198
ghis: 0.560

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: S
essential_gene_gene_trap
gene_indispensability_pred: N
gene_indispensability_score: 0.232

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Kif18b
Phenotype

Gene ontology

Biological process: mitotic sister chromatid segregation;mitotic cell cycle;microtubule-based movement;microtubule depolymerization;cell division;regulation of cell division
Cellular component: astral microtubule;nucleus;cytoplasm;cytosol;kinesin complex;microtubule;nuclear body;microtubule plus-end;mitotic spindle astral microtubule;mitotic spindle midzone;microtubule end
Molecular function: motor activity;microtubule motor activity;protein binding;ATP binding;microtubule binding;ATP-dependent microtubule motor activity, plus-end-directed;ATPase activity;kinesin binding