Gene
KIF1B
kinesin family member 1B
- HGNC 16636↗(opens in a new tab)
- Ensembl gene ENSG00000054523↗(opens in a new tab)
- NCBI Gene 23095↗(opens in a new tab)
Summary
- Cytogenetic location
- 1p36.22
- Coordinates
- Chromosome 1: 10,210,570–10,381,603 (GRCh38)
- Exons
- 49 exons across 171 kb
- Protein
- 1,816 amino acids
- Also known as
- KIAA0591, KLP, HMSNII
- Previous symbols
- CMT2A, CMT2
- MANE Select transcript
- ENST00000676179.1NM_001365951.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads KIF1B yet. The test sequences your whole genome, so your data includes it all the same.
How KIF1B is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 10.9 kb of the gene's 171 kb; 5,451 of those bases code for the protein.
How a genome test reads KIF1B
2
positions in KIF1B where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 171 kb of KIF1B, introns included, not only the 10.9 kb of exons.
Traits linked to KIF1B
The Human Phenotype Ontology lists these as features of the rare conditions KIF1B can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Peripheral axonal neuropathy
- Episodic paroxysmal anxiety
- Recurrent paroxysmal headache
- Cranial nerve compression
- Inability to move vocal cords
- Panic attack
- Tremor
- Absent reflexes
Show 15 more traits
- Ataxia
- Axonal degeneration/regeneration
- Cancer of early nerve cells
- Decreased motor nerve conduction velocity
- Decreased number of peripheral myelinated nerve fibers
- Decreased reflex response
- Decreased sensation in extremities
- Ganglioneuroblastoma
- Ganglioneuroma
- High stepping
- Jerking
- Onion bulb formation
- Peripheral axonal atrophy
- Peripheral neuropathy
- Pressure on spinal cord
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). KIF1B gene: kinesin family member 1B. Retrieved 17 October 2026, from https://dantelabs.com/genes/kif1b
Dante Labs. KIF1B gene: kinesin family member 1B [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/kif1b
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