KIF2B

protein-coding

kinesin family member 2B, the group of Kinesins

Gene summary

Predicted to enable ATP hydrolysis activity; microtubule binding activity; and microtubule motor activity. Involved in metaphase chromosome alignment; microtubule depolymerization; and regulation of chromosome segregation. Predicted to be located in cytosol. Predicted to be part of kinesin complex. Predicted to be active in cytoplasm and microtubule cytoskeleton. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_032559.5

Inheritance

—

ClinVar variants

U:97B:9

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.91

Max pathogenic AF

—

Genomic locus

chr17:53,822,927-53,825,193

External References & Databases

Ensembl (ENSG00000141200)

Transcript & Mutation Effects

hg38 • Region Span ~2.3 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 KIF2B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 104

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032559.5. 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						0
missense			97 clinvar	7 clinvar	2 clinvar	106
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	97	7	2	106

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032559.5	RefSeq	NP_115948.4	1	MANE Select
ENST00000268919.6	Ensembl	ENSP00000268919.4	1	MANE Select

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

retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum
microtubule-based movement
microtubule depolymerization
antigen processing and presentation of exogenous peptide antigen via MHC class II
cell division

Molecular Function

microtubule motor activity
ATP binding
microtubule binding
ATPase activity

Cellular Component

condensed chromosome kinetochore
nucleus
nucleolus
centrosome
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000268919
Coding exons: 1
Length: 2335
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.715	422	383	1.10	0.0000224	4397
Missense (PolyPhen)		182	158.18	1.1506		1815
Synonymous	-0.852	171	157	1.09	0.00000964	1335
Loss of Function	0.353	16	17.6	0.909	9.25e-7	218

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Plus end-directed microtubule-dependent motor required for spindle assembly and chromosome movement. Has microtubule depolymerization activity (PubMed:17538014). Plays a role in chromosome congression (PubMed:23891108). {ECO:0000269|PubMed:17538014, ECO:0000269|PubMed:23891108}.;

Recessive Scores

pRec: 0.0917

Intolerance Scores

LoFtool: 0.901
RVIS EVS: 1.94
RVIS percentile EVS: 97.52

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0963

Gene Damage Prediction

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