KIF12

KIF12
Identifiers
Aliases	KIF12, kinesin family member 12
External IDs	OMIM: 611278; MGI: 1098232; HomoloGene: 7796; GeneCards: KIF12; OMA:KIF12 - orthologs
Gene location (Human)
Chr.	Chromosome 9 (human)
End	114,099,291 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	63,090,368 bp
RNA expression pattern
	Top expressed in
	body of pancreas; ; gallbladder; ; right lobe of liver; ; right uterine tube; ; left lobe of thyroid gland; ; right lobe of thyroid gland; ; human kidney; ; mucosa of transverse colon; ; testicle; ; renal medulla;
	Top expressed in
	right kidney; ; proximal tubule; ; islet of Langerhans; ; human kidney; ; epithelium of small intestine; ; medullary collecting duct; ; efferent ductule; ; embryo; ; yolk sac; ; lumbar spinal ganglion;
	More reference expression data
	n/a
Gene ontology
Molecular function	microtubule binding; microtubule motor activity; nucleotide binding; ATPase activity; ATP binding; molecular function;
Cellular component	cytoplasm; microtubule; extracellular exosome; cytoskeleton; kinesin complex;
Biological process	microtubule-based movement; biological process;
	Sources:Amigo / QuickGO
Orthologs
	113220
	16552
	ENSG00000136883
	ENSMUSG00000028357
	Q96FN5
	Q9D2Z8
	NM_138424
	NM_010616; NM_001317352
	NP_612433
	NP_001304281; NP_034746
	Wikidata
View/Edit Human	View/Edit Mouse

Kinesin family member 12 (KIF12), also known as kinesin-12, is a human protein encoded by the gene KIF12. It is part of the kinesin family of motor proteins.

Clinical significance

Mutations in KIF12 are associated with cholestatic liver disease.^[5]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000136883 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000028357 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Stalke, Amelie; Sgodda, Malte; Cantz, Tobias; Skawran, Britta; Lainka, Elke; Hartleben, Björn; Baumann, Ulrich; Pfister, Eva-Doreen (January 2022). "KIF12 Variants and Disturbed Hepatocyte Polarity in Children with a Phenotypic Spectrum of Cholestatic Liver Disease". The Journal of Pediatrics. 240: 284–291.e9. doi:10.1016/j.jpeds.2021.09.019. PMID 34555379. S2CID 237615302.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000136883 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000028357 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] Stalke, Amelie; Sgodda, Malte; Cantz, Tobias; Skawran, Britta; Lainka, Elke; Hartleben, Björn; Baumann, Ulrich; Pfister, Eva-Doreen (January 2022). "KIF12 Variants and Disturbed Hepatocyte Polarity in Children with a Phenotypic Spectrum of Cholestatic Liver Disease". The Journal of Pediatrics. 240: 284–291.e9. doi:10.1016/j.jpeds.2021.09.019. PMID 34555379. S2CID 237615302.

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Clinical significance

References