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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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KIF3B
kinesin family member 3B
Chromosome 20 · 20q11.21
NCBI Gene: 9371Ensembl: ENSG00000101350.9HGNC: HGNC:6320UniProt: O15066
74PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitotic spindle assemblymembranemicrotubule cytoskeletonsmall GTPase bindingretinitis pigmentosa 89Abnormality of the skeletal systemneurodegenerative diseasealcohol drinking
✦AI Summary

KIF3B is a molecular motor protein that functions as the β-subunit of the heterotrimeric kinesin-2 complex (KIF3A/KIF3B/KAP3), which uses ATP hydrolysis to transport intracellular cargos along microtubules 1. Primary functions include intraflagellar transport essential for cilia assembly and maintenance 2, photoreceptor integrity and opsin trafficking in rod cells 2, and dendritic transport of NMDA receptor complexes 3. KIF3B also plays roles in mitotic spindle assembly and cytokinesis 4. The kinesin-2 complex activity is regulated by a conserved β-hairpin motif in the tail domain that sequesters motor domains from microtubules until cargo adaptors engage 5. Dysfunction of KIF3B causes multiple disease phenotypes. Mutations impair ciliary assembly and cause autosomal-dominant retinitis pigmentosa with associated hepatic fibrosis and polydactyly 2. KIF3B variants reduce NMDA receptor trafficking, disrupting synaptic plasticity and causing schizophrenia-like behavioral defects in mice, with mutations identified in schizophrenia patients 3. Loss-of-function variants cause male infertility through defects in sperm morphology and motility via impaired intraflagellar transport 6. Additionally, elevated KIF3B expression promotes oral squamous cell carcinoma development through increased cell proliferation and migration 7. These diverse disease associations reflect KIF3B's essential role in transport-dependent cellular processes.

Sources cited
1
KIF3B is a kinesin motor protein involved in intracellular transport and cell migration
PMID: 31700928
2
KIF3B mutations cause autosomal-dominant ciliopathy with retinitis pigmentosa, and are essential for cilia assembly, maintenance, and opsin trafficking
PMID: 32386558
3
KIF3B transports NMDA receptor subunit NR2A in dendrites; mutations impair synaptic plasticity and cause schizophrenia-like phenotypes
PMID: 31746486
4
KIF3B functions in mitotic spindle assembly and cytokinesis, with knockdown causing multipolar division and affecting cell migration
PMID: 28161539
5
KIF3B regulation involves a conserved β-hairpin motif that controls motor activity by sequestering motor domains from microtubules
PMID: 40730907
6
KIF3B variants cause male infertility through impaired sperm morphology and motility via defects in intraflagellar transport
PMID: 34918036
7
Elevated KIF3B expression promotes oral squamous cell carcinoma development through increased proliferation and migration
PMID: 30720171
Disease Associationsⓘ21
retinitis pigmentosa 89Open Targets
0.52Moderate
Abnormality of the skeletal systemOpen Targets
0.40Weak
neurodegenerative diseaseOpen Targets
0.37Weak
alcohol drinkingOpen Targets
0.34Weak
oligospermiaOpen Targets
0.33Weak
asthmaOpen Targets
0.31Weak
Alzheimer diseaseOpen Targets
0.28Weak
respiratory failureOpen Targets
0.27Weak
Hepatic fibrosisOpen Targets
0.23Weak
postaxial polydactylyOpen Targets
0.23Weak
Retinal dystrophyOpen Targets
0.16Weak
optic atrophyOpen Targets
0.11Weak
hypertensionOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.08Suggestive
PainOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
Chronic painOpen Targets
0.07Suggestive
type 2 diabetes mellitusOpen Targets
0.06Suggestive
Retinitis pigmentosa 89UniProt
Pathogenic Variants2
NM_004798.4(KIF3B):c.748G>C (p.Glu250Gln)Pathogenic
Retinitis pigmentosa 89
☆☆☆☆2020→ Residue 250
NM_004798.4(KIF3B):c.1568T>C (p.Leu523Pro)Pathogenic
Retinitis pigmentosa 89
☆☆☆☆2020→ Residue 523
View on ClinVar ↗
Related Genes
KLC1Protein interaction100%IFT52Protein interaction100%IFT20Protein interaction99%KIF15Protein interaction98%ASXL2Protein interaction85%ASXL1Protein interaction81%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
85%
Liver
65%
Heart
44%
Ovary
43%
Lung
37%
Gene Interaction Network
Click a node to explore
KIF3BKLC1IFT52IFT20KIF15ASXL2ASXL1
PROTEIN STRUCTURE
Preparing viewer…
PDB3B6U · 1.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.68LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.51 [0.38–0.68]
RankingsWhere KIF3B stands among ~20K protein-coding genes
  • #6,407of 20,598
    Most Researched74
  • #4,371of 5,498
    Most Pathogenic Variants2
  • #5,043of 17,882
    Most Constrained (LOEUF)0.68
Genes detectedKIF3B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
KIF3B gene silent variant leading to sperm morphology and motility defects and male infertility†.
PMID: 34918036
Biol Reprod · 2022
1.00
2
Research progress on KIF3B and related diseases.
PMID: 31700928
Ann Transl Med · 2019
0.90
3
Kinesin Kif3b mutation reduces NMDAR subunit NR2A trafficking and causes schizophrenia-like phenotypes in mice.
PMID: 31746486
EMBO J · 2020
0.80
4
A novel role of KIF3b in the seminoma cell cycle.
PMID: 28161539
Exp Cell Res · 2017
0.70
5
Regulation of kinesin-2 motility by its β-hairpin motif.
PMID: 40730907
Nat Struct Mol Biol · 2025
0.60