CIT

Chr 12q24.23

citron rho-interacting serine/threonine kinase

Aliases:: KIAA0949, STK21, CRIK, CITK
MANE:: ENST00000392521.7

OMIM: 605629 ↗NCBI: 11113 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

CIT · O14578

v62025-08-01

Predicted Aligned Error matrix for CIT — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

69.4/ 100

Low

2,027 residues

Confidence breakdown

Very high(≥ 90)15%
Confident(70–90)41%
Low(50–70)26%
Very low(< 50)18%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

autosomal recessive primary microcephaly
0.77
neurodegenerative disease
0.55
hereditary disease
0.47
Primary microcephaly
0.46
atrial fibrillation
0.30
lysosomal storage disease
0.27
kidney disorder
0.27
thyroid cancer
0.26
type 2 diabetes mellitus
0.25
migraine disorder
0.25

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Citron Rho-interacting kinase

Plays a role in cytokinesis. Required for KIF14 localization to the central spindle and midbody. Putative RHO/RAC effector that binds to the GTP-bound forms of RHO and RAC1. It probably binds p21 with a tighter specificity in vivo. Displays serine/threonine protein kinase activity. Plays an important role in the regulation of cytokinesis and the development of the central nervous system. Phosphorylates MYL9/MLC2