KIF1B Chromosome 1
Kinesin family member 1B
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What This Gene Does
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]
Gene Info
Gene Group
"Kinesins|Pleckstrin homology domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
1p36.22
Ensembl
ENSG00000054523
Associated Conditions (23)
Charcot-Marie-Tooth disease type 2
Neuroblastoma
susceptibility to
1
Malignant tumor of breast
Charcot-Marie-Tooth disease
KIF1B-related disorder
Charcot-Marie-Tooth disease type 2A1
Meniere disease
Pheochromocytoma
Adult-onset proximal spinal muscular atrophy
autosomal dominant
Hereditary cancer-predisposing syndrome
Malignant tumor of esophagus
Gait ataxia
Hereditary cancer
Gastric cancer
Cervical cancer
Ovarian cancer
Multiple endocrine neoplasia type 2A
+3 more conditions
Key Variants
RS1035373795
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS1188099847
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS1205403546
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS1217853804
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS121908162
Conflicting classifications of pathogenicity
Neuroblastoma, susceptibility to, 1
Health Risk
RS121908163
Conflicting classifications of pathogenicity
Neuroblastoma, susceptibility to, 1
Health Risk
RS1279435643
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS1320246121
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS1342716199
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS1345626148
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS1391892586
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS1394199064
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
All Variants (148)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS761723354 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A1, Neuroblastoma |
| RS762078299 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS763679404 | Health Risk | Conflicting classifications of pathogenicity | Neuroblastoma, Charcot-Marie-Tooth disease type 2, KIF1B-related disorder |
| RS763979844 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Hereditary cancer, Charcot-Marie-Tooth disease type 2 |
| RS764144206 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS764473301 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS765001553 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS765259892 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS765394037 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS765617846 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS765957120 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS766873320 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease |
| RS766964585 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS767229413 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS768636898 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS768672234 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2 |
| RS768884894 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS769092155 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease |
| RS769602520 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, KIF1B-related disorder, Charcot-Marie-Tooth disease type 2 |
| RS769781641 | Health Risk | Conflicting classifications of pathogenicity | Neuroblastoma, Neuroblastoma |
| RS771169398 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS771477893 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, KIF1B-related disorder, Charcot-Marie-Tooth disease type 2 |
| RS771929965 | Health Risk | Conflicting classifications of pathogenicity | Neuroblastoma, Charcot-Marie-Tooth disease type 2, Neuroblastoma |
| RS772429569 | Health Risk | Conflicting classifications of pathogenicity | Neuroblastoma, Neuroblastoma |
| RS772779601 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS772880800 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS772919031 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS774464311 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A1, Neuroblastoma |
| RS775328436 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS775692548 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Pheochromocytoma, Charcot-Marie-Tooth disease type 2A1 |
| RS776533873 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A1, Neuroblastoma |
| RS776534234 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, KIF1B-related disorder, Charcot-Marie-Tooth disease type 2 |
| RS776678008 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS777106047 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS779559577 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS779626536 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS780521474 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS78662124 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS868389032 | Health Risk | Conflicting classifications of pathogenicity | Neuroblastoma, Charcot-Marie-Tooth disease type 2, Neuroblastoma |
| RS886042662 | Health Risk | Conflicting classifications of pathogenicity | EEG abnormality, Exaggerated startle response, Global developmental delay |
| RS886044966 | Health Risk | Conflicting classifications of pathogenicity | Neuroblastoma, Charcot-Marie-Tooth disease type 2, Neuroblastoma |
| RS886044976 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS886044977 | Health Risk | Conflicting classifications of pathogenicity | Neuroblastoma, Neuroblastoma |
| RS910542787 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS953019155 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS986716280 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS121908160 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2A1, Charcot-Marie-Tooth disease type 2A1 |
| RS121908161 | Health Risk | risk factor | Neuroblastoma, susceptibility to, 1 |