KIF13B

protein-coding

kinesin family member 13B, the group of Kinesins

Gene summary

Enables 14-3-3 protein binding activity and protein kinase binding activity. Involved in regulation of axonogenesis. Located in axon and cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_015254.4

Inheritance

—

ClinVar variants

U:283B:15

Top phenotype

EBV-positive nodal T- and NK-cell lymphoma

gnomAD constraint

pLI —, LoF o/e 0.39

Max pathogenic AF

—

Genomic locus

chr8:29,067,278-29,263,124

External References & Databases

Ensembl (ENSG00000197892)

Transcript & Mutation Effects

hg38 • Region Span ~195.8 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 KIF13B variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 261

not providedTotal: 7

EBV-positive nodal T- and NK-cell lymphomaTotal: 1

Autism spectrum disorderTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_015254.4. 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			3 clinvar	4 clinvar	1 clinvar	8
missense			265 clinvar	8 clinvar	2 clinvar	275
nonsense			3 clinvar			3
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			11 clinvar			11
Total	0	0	283	12	3	298

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 21 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_015254.4	RefSeq	NP_056069.2	40	MANE Select
ENST00000524189.6	Ensembl	ENSP00000427900.1	40	MANE Select
ENST00000521515.1	Ensembl	ENSP00000429201.1	18	Standard
ENST00000521515.2	Ensembl	ENSP00000429201.1	18	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

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

Biological Process

protein targeting
microtubule-based movement
signal transduction
T cell activation
regulation of axonogenesis

Molecular Function

microtubule motor activity
protein binding
ATP binding
microtubule binding
ATPase activity

Cellular Component

cytoplasm
cytosol
kinesin complex
microtubule
microvillus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000524189
Coding exons: 40
Length: 195846
Individuals with no LoFs: 124643
Homozygous LoFs: 0
Heterozygous LoFs: 75
Defined: 124718
p: 0.000301

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.05	821	1.00e+3	0.818	0.0000606	11838
Missense (PolyPhen)		240	381.15	0.62967		4346
Synonymous	-1.14	427	398	1.07	0.0000261	3546
Loss of Function	5.57	38	97.3	0.391	0.00000542	1115

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00019	rare
Latino/Admixed American	0.00032	0.00032	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00046	0.00044	rare
Finnish	0.00066	0.00065	rare
European (Non-Finnish)	0.00031	0.00030	rare
South Asian	0.000099	0.000098	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Involved in reorganization of the cortical cytoskeleton. Regulates axon formation by promoting the formation of extra axons. May be functionally important for the intracellular trafficking of MAGUKs and associated protein complexes. {ECO:0000269|PubMed:20194617}.;

Recessive Scores

pRec: 0.147

Intolerance Scores

LoFtool: 0.165
RVIS EVS: -1.45
RVIS percentile EVS: 3.93

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.750

Gene Damage Prediction

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