KIF1B

Chr 1ADSomatic

kinesin family member 1B

Also known as: CMT2, CMT2A, CMT2A1, HMSNII, KLP, NBLST1

NCBI Gene: 23095ENSG00000054523UniProt: O60333

Enables plus-end-directed microtubule motor activity. Involved in apoptotic process involved in development and mitochondrion transport along microtubule. Is active in mitochondrion. Implicated in Charcot-Marie-Tooth disease type 2A1; hepatocellular carcinoma; multiple sclerosis; neuroblastoma; and ovary epithelial cancer. Biomarker of hepatocellular carcinoma. [provided by Alliance of Genome Resources, Jul 2025]

Primary Disease Associations & Inheritance

{Neuroblastoma, susceptibility to, 1}MIM #256700
ADSomatic
Charcot-Marie-Tooth disease, type 2A1MIM #118210
AD
UniProtNeuroblastoma 1
UniProtPheochromocytoma
3994
ClinVar variants
2
Pathogenic / LP
1.00
pLI score· haploinsufficient
0
Active trials
Clinical Summary— KIF1B
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
2 Pathogenic / Likely Pathogenic· 113 VUS of 3994 total submissions
Some data sources returned errors (1)

clinvar: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.17LOEUF
pLI 1.000
Z-score 8.57
OE 0.10 (0.06–0.17)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
3.60Z-score
OE missense 0.68 (0.63–0.72)
663 obs / 980.1 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.10 (0.06–0.17)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.68 (0.63–0.72)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.99
0≤1.21.6
LoF obs/exp: 11 / 106.5Missense obs/exp: 663 / 980.1Syn Z: 0.17

ClinVar Variant Classifications

3994 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic2
VUS113
Likely Benign61
2
Pathogenic
113
VUS
61
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
2
0
2
Likely Pathogenic
0
0
0
0
0
VUS
6
99
4
4
113
Likely Benign
0
1
31
29
61
Benign
0
0
0
0
0
Total61003733176

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

KIF1B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

{Neuroblastoma, susceptibility to, 1}

MIM #256700

Molecular basis of disorder known

Autosomal dominantSomatic mutation

Charcot-Marie-Tooth disease, type 2A1

MIM #118210

Molecular basis of disorder known

Autosomal dominant
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Polymorphic locus rs10492972 of the KIF1B gene association with multiple sclerosis in Russia: case control study.
Kudryavtseva EA et al.·Mol Genet Metab
2011Meta-analysis
Downregulation of KIF1B mRNA in hepatocellular carcinoma tissues correlates with poor prognosis.
Yang SZ et al.·World J Gastroenterol
2015
Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study.
Ma X et al.·Front Endocrinol (Lausanne)
2020Clinical trial
CircPOSTN competes with KIF1B for miR-185-5p binding sites to promote the tumorigenesis of glioma.
Guan Y et al.·Brain Res Bull
2022
A genetic variant at KIF1B predicts clinical outcome of HBV-related hepatocellular carcinoma in Chinese.
Huang M et al.·Cancer Epidemiol
2014
Host genetic variants influencing the clinical course of hepatitis B virus infection.
Matsuura K et al.·J Med Virol
2016Review
Identification and analysis of diverse cell death patterns in osteomyelitis via microarray-based transcriptome profiling and clinical data.
Feng T et al.·Front Immunol
2025
[Update on hereditary neuropathy].
Nakagawa M et al.·Rinsho Shinkeigaku
2004Review
Analysis of Expression of the GRIPAP1, DLG4, KIF1B, NGFRAP1, and NRF1 Genes in Peripheral Blood of the Patients with Parkinson's Disease in the Early Clinical Stages.
Lukashevich MV et al.·Biochemistry (Mosc)
2024Cohort
Mitochondrial dynamics and inherited peripheral nerve diseases.
Pareyson D et al.·Neurosci Lett
2015Review
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools