Gene
KIF14
kinesin family member 14
- HGNC 19181↗(opens in a new tab)
- Ensembl gene ENSG00000118193↗(opens in a new tab)
- NCBI Gene 9928↗(opens in a new tab)
Summary
- Cytogenetic location
- 1q32.1
- Coordinates
- Chromosome 1: 200,551,500–200,620,751 (GRCh38)
- Exons
- 30 exons across 69.3 kb
- Protein
- 1,648 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- KIAA0042
- MANE Select transcript
- ENST00000367350.5NM_014875.3
- 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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Meckel Syndrome
- Autosomal recessive
A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.
- 1 GenCC submitter rates it definitive or strong
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How KIF14 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 7.3 kb of the gene's 69.3 kb; 4,947 of those bases code for the protein.
How a genome test reads KIF14
20
positions in KIF14 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 69.3 kb of KIF14, introns included, not only the 7.3 kb of exons.
Genes linked to the same conditions
- B9D1B9 domain containing 1Shares 1 condition
- B9D2B9 domain containing 2Shares 1 condition
- MKS1MKS transition zone complex subunit 1Shares 1 condition
- RPGRIP1LRPGRIP1 likeShares 1 condition
- TCTN2tectonic family member 2Shares 1 condition
- TMEM107transmembrane protein 107Shares 1 condition
- TMEM231transmembrane protein 231Shares 1 condition
- TMEM67transmembrane protein 67Shares 1 condition
- TXNDC15thioredoxin domain containing 15Shares 1 condition
Traits linked to KIF14
The Human Phenotype Ontology lists these as features of the rare conditions KIF14 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Small cerebellum
- Small cerebrum
- Global developmental delay
- Gray matter heterotopia
- Intellectual disability, severe
- Agenesis of cerebellar vermis
- Agenesis of corpus callosum
- Arrhinencephaly
Show 12 more traits
Abnormality of the genitourinary system
- Small uterus
- Abnormally closed or absent vagina
- Absent kidney on one side
- Bilateral renal agenesis
- Small kidneys
- Ureteral hypoplasia
- Vesicoureteral reflux
- Ureteral agenesis
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.). KIF14 gene: kinesin family member 14. Retrieved 17 October 2026, from https://dantelabs.com/genes/kif14
Dante Labs. KIF14 gene: kinesin family member 14 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/kif14
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