KIF5B

protein-coding

kinesin family member 5B, the group of Kinesins

Gene summary

Enables identical protein binding activity; microtubule binding activity; and microtubule motor activity. Involved in several processes, including natural killer cell mediated cytotoxicity; positive regulation of potassium ion transport; and positive regulation of protein localization to plasma membrane. Located in cytosol and vesicle. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

KNS1

MANE transcript

NM_004521.3

Inheritance

ClinVar variants

P:10U:115B:7

Top phenotype

osteogenesis imperfecta

gnomAD constraint

pLI —, LoF o/e 0.17

Max pathogenic AF

—

Genomic locus

chr10:32,009,015-32,056,425

External References & Databases

Ensembl (ENSG00000170759)

Transcript & Mutation Effects

hg38 • Region Span ~47.4 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

neurodevelopmental disorderLIMITED

Inheritance Pattern: AD

Disease ID:MONDO:0700092

Submitter: PMGRC

osteogenesis imperfectaSTRONG

Inheritance Pattern: AD

Disease ID:MONDO:0019019

Submitter: PanelApp Australia

skeletal dysplasiaSTRONG

Inheritance Pattern: AD

Disease ID:MONDO:0018230

Submitter: PanelApp Australia

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to KIF5B variants in ClinVar

32 Conditions Cataloged

not specifiedTotal: 86

not providedTotal: 30

KYPHOMELIC DYSPLASIA, ITAI-IKEGAWA TYPETotal: 4

KIF5B-related conditionTotal: 3

KIF5B-related developmental disorderTotal: 2

Intellectual disabilityTotal: 2

SeizureTotal: 2

Severe muscular hypotoniaTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_004521.3. 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	2 clinvar	5
missense	3 clinvar	7 clinvar	98 clinvar	4 clinvar		112
nonsense			6 clinvar			6
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			8 clinvar			8
Total	3	7	115	5	2	132

Highest pathogenic variant AF is 0.000013693678

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 23 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_004521.3	RefSeq	NP_004512.1	25	MANE Select
ENST00000302418.5	Ensembl	ENSP00000307078.4	25	MANE Select
ENST00000861448.1	Ensembl	ENSP00000531507.1	25	Standard
ENST00000861448.2	Ensembl	ENSP00000531507.1	25	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
kif5ba	Danio rerio	Structure: chondrocyte Quality: decreased occurrence abnormal

Gene / Model

Organism

Observed Phenotype

kif5ba

Danio rerio

Structure: chondrocyte

Quality: decreased occurrence

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Dopaminergic synapse - Homo sapiens (human)
Endocytosis - Homo sapiens (human)
Insulin Signaling
Signal Transduction
Vesicle-mediated transport

Biological Process

microtubule-based movement
cytoplasm organization
hippocampus development
positive regulation of vesicle fusion
positive regulation of synaptic transmission, GABAergic

Molecular Function

microtubule motor activity
protein binding
ATP binding
microtubule binding
JUN kinase binding

Cellular Component

microtubule organizing center
cytosol
kinesin complex
microtubule
membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000302418
Coding exons: 25
Length: 47422
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	3.06	306	498	0.615	0.0000255	6398
Missense (PolyPhen)		75	186.75	0.40162		2428
Synonymous	-0.381	171	165	1.04	0.00000794	1698
Loss of Function	5.94	10	59.4	0.168	0.00000328	728

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.00014	0.00014	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.00023	0.00023	rare
European (Non-Finnish)	0.00020	0.00019	rare
South Asian	0.00013	0.00013	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Microtubule-dependent motor required for normal distribution of mitochondria and lysosomes. Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a ZFYVE27-dependent manner (By similarity). Regulates centrosome and nuclear positioning during mitotic entry. During the G2 phase of the cell cycle in a BICD2-dependent manner, antagonizes dynein function and drives the separation of nuclei and centrosomes (PubMed:20386726). Required for anterograde axonal transportation of MAPK8IP3/JIP3 which is essential for MAPK8IP3/JIP3 function in axon elongation (By similarity). {ECO:0000250|UniProtKB:Q2PQA9, ECO:0000250|UniProtKB:Q61768, ECO:0000269|PubMed:20386726}.;

Recessive Scores

pRec: 0.117

Intolerance Scores

LoFtool: 0.316
RVIS EVS: -0.93
RVIS percentile EVS: 9.55

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.636

Gene Damage Prediction

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