Gene: CIT

Alternate names for this Gene: CITK|CRIK|MCPH17|STK21

Gene Summary: This gene encodes a serine/threonine-protein kinase that functions in cell division. Together with the kinesin KIF14, this protein localizes to the central spindle and midbody, and functions to promote efficient cytokinesis. This protein is involved in central nervous system development. Polymorphisms in this gene are associated with bipolar disorder and risk for schizophrenia. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 12

Location in Chromosome : 12q24.23

Description of this Gene: citron rho-interacting serine/threonine kinase

Type of Gene: protein-coding

rs203351 in CIT gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs11064881 in CIT gene and Inflammatory Bowel Diseases PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

rs886037892 in CIT gene and MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE PMID 27453579 2016 Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons.

PMID 27453578 2016 Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.

PMID 27519304 2016 CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly.

PMID 27503289 2016 Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans.

rs17442937 in CIT gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs17442937 in CIT gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs203351 in CIT gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs11064881 in CIT gene and Ulcerative Colitis PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

rs4767841 in CIT gene and Urge Incontinence PMID 25524241 2015 Genetic contributions to urgency urinary incontinence in women.

rs11064881 in CIT gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.