Gene
KIF5A
kinesin family member 5A
- HGNC 6323↗(opens in a new tab)
- Ensembl gene ENSG00000155980↗(opens in a new tab)
- NCBI Gene 3798↗(opens in a new tab)
Summary
- Cytogenetic location
- 12q13.3
- Coordinates
- Chromosome 12: 57,550,044–57,586,633 (GRCh38)
- Exons
- 29 exons across 36.6 kb
- Protein
- 1,032 amino acids
- Also known as
- D12S1889, NKHC, MY050
- Previous symbols
- SPG10
- MANE Select transcript
- ENST00000455537.7NM_004984.4
- 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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Hereditary Spastic Paraplegia
- Hereditary Spastic Paraplegia (All Types)
One of 66 genes linked to it
Umbrella term covering all hereditary spastic paraplegias, including SPG4 (SPAST), the most common dominant form, and SPG5A, SPG6, SPG10, SPG18, SPG30 and SPG31.
- 4 GenCC submitters rate it definitive or strong
How KIF5A 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 5.8 kb of the gene's 36.6 kb; 3,099 of those bases code for the protein.
How a genome test reads KIF5A
37
positions in KIF5A 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 36.6 kb of KIF5A, introns included, not only the 5.8 kb of exons.
Genes linked to the same conditions
- ABCD1ATP binding cassette subfamily D member 1Shares 1 condition
- ABHD16Aabhydrolase domain containing 16A, phospholipaseShares 1 condition
- ALDH18A1aldehyde dehydrogenase 18 family member A1Shares 1 condition
- AMFRautocrine motility factor receptorShares 1 condition
- AP4B1adaptor related protein complex 4 subunit beta 1Shares 1 condition
- AP4E1adaptor related protein complex 4 subunit epsilon 1Shares 1 condition
- AP4M1adaptor related protein complex 4 subunit mu 1Shares 1 condition
- AP4S1adaptor related protein complex 4 subunit sigma 1Shares 1 condition
- AP5Z1adaptor related protein complex 5 subunit zeta 1Shares 1 condition
- ARL6IP1ARL6 interacting reticulophagy regulator 1Shares 1 condition
- ATL1atlastin GTPase 1Shares 1 condition
- ATP13A2ATPase cation transporting 13A2Shares 1 condition
Traits linked to KIF5A
The Human Phenotype Ontology lists these as features of the rare conditions KIF5A can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Babinski sign
- Clonic seizure
- Global developmental delay
- Involuntary writhing movements in fingers, hands, toes, and feet
- Jerking
- Lou Gehrig's disease
- Progressive leukoencephalopathy
- Underdevelopment of part of brain called corpus callosum
Show 16 more traits
- Overactive lower leg reflex
- Chorea
- Decreased sensation in extremities
- Delayed CNS myelination
- Impaired distal vibration sensation
- Impaired vibration sensation in the lower limbs
- Peripheral axonal neuropathy
- Upper limb hyperreflexia
- Upper motor neuron dysfunction
- Ataxia
- IQ between 34 and 49
- Nerve damage causing decreased feeling and movement
- Parkinsonism
- Pins and needles feeling
- Cognitive impairment
- Knee clonus
Abnormality of the musculoskeletal system
- Increased variability in muscle fiber diameter
- Low muscle tone
- Lower limb spasticity
- Spastic walk
- Distal lower limb amyotrophy
- Scoliosis
- Spastic paraparetic gait
- Uncontrollable movement in upper arms
Show 1 more trait
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.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- 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.). KIF5A gene: kinesin family member 5A. Retrieved 17 October 2026, from https://dantelabs.com/genes/kif5a
Dante Labs. KIF5A gene: kinesin family member 5A [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/kif5a
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