Gene
KIF12
kinesin family member 12
- HGNC 21495↗(opens in a new tab)
- Ensembl gene ENSG00000136883↗(opens in a new tab)
- NCBI Gene 113220↗(opens in a new tab)
Summary
- Cytogenetic location
- 9q32
- Coordinates
- Chromosome 9: 114,091,638–114,099,292 (GRCh38)
- Exons
- 19 exons across 7.7 kb
- Protein
- 651 amino acids
- Inheritance
- Autosomal recessive
- MANE Select transcript
- ENST00000640217.2NM_001388308.1
- 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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Familial Intrahepatic Cholestasis
- Autosomal recessive
An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome.
- 2 GenCC submitters rate 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 KIF12 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 2.2 kb of the gene's 7.7 kb; 1,956 of those bases code for the protein.
How a genome test reads KIF12
8
positions in KIF12 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 7.7 kb of KIF12, introns included, not only the 2.2 kb of exons.
Genes linked to the same conditions
- ABCB11ATP binding cassette subfamily B member 11Shares 1 condition
- ABCB4ATP binding cassette subfamily B member 4Shares 1 condition
- ATP8B1ATPase phospholipid transporting 8B1Shares 1 condition
- MYO5Bmyosin VBShares 1 condition
- NR1H4nuclear receptor subfamily 1 group H member 4Shares 1 condition
- PSKH1protein serine kinase H1Shares 1 condition
- TJP2tight junction protein 2Shares 1 condition
- USP53ubiquitin specific peptidase 53Shares 1 condition
- ZFYVE19zinc finger FYVE-type containing 19Shares 1 condition
Traits linked to KIF12
The Human Phenotype Ontology lists these as features of the rare conditions KIF12 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the digestive system
- Jaundice
- Slowed or blocked flow of bile from liver
- Bile duct proliferation
- Hepatic fibrosis
- Enlarged liver
- Hepatic bridging fibrosis
- Scar tissue replaces healthy tissue in the liver
- Enlarged vein in esophagus
Show 1 more trait
Laboratory abnormality
- Elevated alkaline phosphatase
- Elevated circulating alanine aminotransferase concentration
- Elevated circulating aspartate aminotransferase concentration
- Elevated gamma-glutamyltransferase level
- Increased serum bile acid concentration
- Conjugated hyperbilirubinemia
- Elevated circulating alpha-fetoprotein concentration
- Elevated serum cholesterol
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.). KIF12 gene: kinesin family member 12. Retrieved 16 October 2026, from https://dantelabs.com/genes/kif12
Dante Labs. KIF12 gene: kinesin family member 12 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/kif12
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