CIT Chromosome 12
Citron rho-interacting serine/threonine kinase
Upload your DNA to see your personal genotypes for variants in CIT.
What This Gene Does
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. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
"MicroRNA protein coding host genes|DMPK kinase family"
Locus Type
gene with protein product
Location
12q24.23
Ensembl
ENSG00000122966
Associated Conditions (12)
Inborn genetic diseases
Melanoma
Gastric cancer
Familial cancer of breast
Clear cell carcinoma of kidney
Colon adenocarcinoma
CIT-related disorder
Microcephaly 17
primary
autosomal recessive
Intellectual disability
Autosomal recessive primary microcephaly
Key Variants
RS142505542
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142607751
Conflicting classifications of pathogenicity
Melanoma, Gastric cancer, Familial cancer of breast
Health Risk
RS143040240
Conflicting classifications of pathogenicity
CIT-related disorder, CIT-related disorder
Health Risk
RS144883583
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145731510
Conflicting classifications of pathogenicity
Microcephaly 17, primary, autosomal recessive
Health Risk
RS147388782
Conflicting classifications of pathogenicity
Health Risk
RS149250142
Conflicting classifications of pathogenicity
Health Risk
RS182092782
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS186505065
Conflicting classifications of pathogenicity
CIT-related disorder, CIT-related disorder
Health Risk
RS201214475
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201947776
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS372311430
Conflicting classifications of pathogenicity
Health Risk
All Variants (37)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142505542 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS142607751 | Health Risk | Conflicting classifications of pathogenicity | Melanoma, Gastric cancer, Familial cancer of breast |
| RS143040240 | Health Risk | Conflicting classifications of pathogenicity | CIT-related disorder, CIT-related disorder |
| RS144883583 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS145731510 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 17, primary, autosomal recessive |
| RS147388782 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149250142 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS182092782 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS186505065 | Health Risk | Conflicting classifications of pathogenicity | CIT-related disorder, CIT-related disorder |
| RS201214475 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201947776 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS372311430 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS373975278 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS747401094 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 17, primary, autosomal recessive |
| RS754514332 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS767693184 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS771292782 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Intellectual disability |
| RS1057520205 | Health Risk | Likely pathogenic | — |
| RS1385781565 | Health Risk | Likely pathogenic | — |
| RS1964403206 | Health Risk | Likely pathogenic | Microcephaly 17, primary, autosomal recessive |
| RS2138306726 | Health Risk | Likely pathogenic | Microcephaly 17, primary, autosomal recessive |
| RS535580486 | Health Risk | Likely pathogenic | — |
| RS879253817 | Health Risk | Likely pathogenic | Autosomal recessive primary microcephaly, Microcephaly 17, primary |
| RS1391231312 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1968060326 | Health Risk | Pathogenic | Microcephaly 17, primary, autosomal recessive |
| RS202076791 | Health Risk | Pathogenic | Microcephaly 17, primary, autosomal recessive |
| RS2137067282 | Health Risk | Pathogenic | Microcephaly 17, primary, autosomal recessive |
| RS2502433367 | Health Risk | Pathogenic | — |
| RS2502433914 | Health Risk | Pathogenic | — |
| RS753671672 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS879255522 | Health Risk | Pathogenic | Autosomal recessive primary microcephaly, Microcephaly 17, primary |
| RS879255523 | Health Risk | Pathogenic | Autosomal recessive primary microcephaly, Autosomal recessive primary microcephaly |
| RS879255524 | Health Risk | Pathogenic | Autosomal recessive primary microcephaly, Autosomal recessive primary microcephaly |
| RS886037892 | Health Risk | Pathogenic | Microcephaly 17, primary, autosomal recessive |
| RS886037893 | Health Risk | Pathogenic | Microcephaly 17, primary, autosomal recessive |
| RS886037894 | Health Risk | Pathogenic | Microcephaly 17, primary, autosomal recessive |
| RS886037895 | Health Risk | Pathogenic | Microcephaly 17, primary, autosomal recessive |