IQCE: IQ Motif Containing E
A key regulator of ciliary signaling and Hedgehog pathway
Gene Information Card
| Symbol | IQCE |
|---|---|
| Full Name | IQ Motif Containing E |
| Gene Type | Protein coding |
| Chromosomal Location | 7p22.3 |
| NCBI Gene ID | 23288 ncbi.nlm.nih.gov/gene/23288 |
| Ensembl ID | ENSG00000106012 |
| UniProt ID | Q6P5W5 |
| OMIM ID | 617642 |
| HGNC ID | 21297 |
| Aliases | C7orf51, FLJ20294, IQCE1 |
Description
IQCE (IQ Motif Containing E) encodes a protein localized to the base of primary cilia, where it interacts with the EVC-EVC2 complex to facilitate Hedgehog signal transduction. It is essential for ciliary function and embryonic development. Mutations in IQCE cause a ciliopathy phenotype, including craniofacial and skeletal abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cranioectodermal dysplasia (CED) | Loss-of-function mutations impair ciliary Hedgehog signaling, leading to skeletal and ectodermal defects. | OMIM #617642; PMID: 27571260 |
| Short-rib thoracic dysplasia (SRTD) | Disruption of IQCE-mediated ciliary signaling results in abnormal bone development and thoracic narrowing. | OMIM #617642; PMID: 27571260 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.2 | Low |
| Lung | 6.1 | Low |
| Brain | 4.3 | Low |
| Heart | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Moderate expression |
| HeLa | 10.5 | Moderate expression |
| HepG2 | 7.8 | Low expression |
| K562 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.103C>T (p.Arg35*) | Nonsense | Rare | Loss of function; truncation of IQCE protein |
| c.502_503del (p.Leu168Valfs*2) | Frameshift | Rare | Loss of function; premature termination |
| c.748G>A (p.Gly250Arg) | Missense | Rare | Likely damaging; disrupts protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause premature termination and loss of IQCE function, impairing ciliary Hedgehog signaling.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • centrosome (GO:0005813) |
| • cilium (GO:0005929) | • ciliary basal body (GO:0036064) |
| • intraciliary transport (GO:0042073) | • developmental growth (GO:0048589) |
Pathways
• Hedgehog signaling pathway (Reactome: R-HSA-5358351)
• Cilium assembly (Reactome: R-HSA-5620912)
Protein Summary
The IQCE protein contains IQ calmodulin-binding motifs and localizes to the base of primary cilia. It forms a complex with EVC and EVC2, which is required for the transduction of Hedgehog signals at the ciliary membrane. Loss of IQCE disrupts ciliary signaling and leads to developmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IQCE Knockout HEK293 Cell Line | EDJ-KQ2174 | Human | 23288 | Details Get a Quote |
| IQCE Knockout HeLa Cell Line | EDJ-KQ21074 | Human | 23288 | Details Get a Quote |
| IQCE Knockout A-549 Cell Line | EDJ-KQ22381 | Human | 23288 | Details Get a Quote |
| IQCE Knockout HCT 116 Cell Line | EDJ-KQ22382 | Human | 23288 | Details Get a Quote |
