ICK (Intestinal Cell Kinase)
A serine/threonine kinase involved in ciliary function and cell cycle regulation
Gene Information Card
| Symbol | ICK |
|---|---|
| Full Name | Intestinal Cell (MAK-like) Kinase |
| Gene Type | Protein coding |
| Chromosomal Location | 6p12.1 |
| NCBI Gene ID | 10058 ncbi.nlm.nih.gov/gene/10058 |
| Ensembl ID | ENSG00000112182 |
| UniProt ID | Q9UPZ9 |
| OMIM ID | 612325 |
| HGNC ID | 28992 |
| Aliases | MAK-related kinase, MRK, ECK, ciliopathy-associated kinase |
Description
The ICK gene encodes a serine/threonine kinase that belongs to the MAP kinase family. It is essential for ciliary assembly and function, particularly in the regulation of ciliary length and signaling. ICK is also involved in cell cycle progression and has been implicated in various ciliopathies, including endocrine-cerebro-osteodysplasia (ECHS1) and other developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Endocrine-Cerebro-Osteodysplasia (ECHS1) | Loss-of-function mutations in ICK disrupt ciliary signaling, leading to skeletal, endocrine, and neurological abnormalities. | OMIM #612325; ClinVar |
| Ciliopathy-related disorders | ICK mutations impair ciliary length control and Hedgehog signaling, contributing to multisystem ciliopathy phenotypes. | NCBI Gene; UniProt |
| Primary microcephaly | Biallelic ICK variants have been associated with microcephaly and intellectual disability, likely due to defective neurogenesis. | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 8.2 | Low |
| Kidney | 6.1 | Low |
| Lung | 4.8 | Low |
| Heart | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression in embryonic kidney cells |
| HeLa | 10.1 | Moderate expression in cervical cancer cells |
| HepG2 | 7.5 | Low expression in liver cancer cells |
| K562 | 5.2 | Low expression in leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.925C>T (p.Arg309*) | Nonsense | Rare | Loss of function; truncation of kinase domain |
| c.1046G>A (p.Arg349Gln) | Missense | Rare | Impaired kinase activity and ciliary dysfunction |
| c.1361G>A (p.Arg454His) | Missense | Rare | Reduced protein stability; associated with ECHS1 |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent ICK protein, resulting in ciliary defects and ciliopathy phenotypes.
Gain of Function (GOF)
Not reported in literature or databases.
Dominant Negative (DN)
Not reported; ICK mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • protein serine/threonine kinase activity | • ATP binding |
| • ciliary assembly | • cell cycle |
| • Hedgehog signaling pathway | • cilium |
Pathways
• Hedgehog signaling pathway
• Ciliary assembly and maintenance
• Cell cycle regulation
Protein Summary
ICK is a 66 kDa serine/threonine kinase localized to the cilium and centrosome. It regulates ciliary length by phosphorylating key substrates involved in intraflagellar transport. The protein contains an N-terminal kinase domain and a C-terminal regulatory region. Mutations in ICK disrupt ciliary homeostasis and are linked to developmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ICK Knockout HAP1 Cell Line | EDC08047 | Human | 22858 | Details Get a Quote |
