IQCN: IQ Motif Containing N
A gene encoding a protein with an IQ calmodulin-binding motif, involved in neuronal and ciliary functions.
Gene Information Card
| Symbol | IQCN |
|---|---|
| Full Name | IQ Motif Containing N |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 100996634 ncbi.nlm.nih.gov/gene/100996634 |
| Ensembl ID | ENSG00000283036 |
| UniProt ID | A0A1B0GTV6 |
| OMIM ID | 619296 |
| HGNC ID | 53687 |
| Aliases | C19orf67, FLJ46321 |
Description
IQCN (IQ Motif Containing N) is a protein-coding gene located on chromosome 19p13.3. The encoded protein contains an IQ calmodulin-binding motif, suggesting a role in calcium/calmodulin signaling. It is expressed in brain and testis, and may be involved in neuronal function and ciliary motility. Limited functional data are available; further studies are needed to clarify its physiological roles.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia (suspected) | IQCN mutations may impair ciliary motility via disrupted calmodulin binding | Predicted based on expression and motif; no direct ClinVar entry as of 2025 |
| Male infertility (suspected) | Expression in testis suggests role in sperm flagellar function | Predicted based on expression; no direct OMIM entry |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 2.1 | Low |
| Testis | 1.8 | Low |
| Lung | 0.5 | Not detected |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 1.5 | Low expression |
| HEK293 (embryonic kidney) | 0.8 | Very low |
| HepG2 (liver) | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41*) | Nonsense | <0.01% | Premature truncation, likely loss of function |
| c.456G>A (p.Trp152*) | Nonsense | <0.01% | Premature truncation, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (p.Arg41*, p.Trp152*) predicted to cause loss of function via nonsense-mediated decay or truncated protein.
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)
| • calmodulin binding | • cytoplasm |
| • cilium |
Pathways
• Calmodulin signaling pathway (predicted)
Protein Summary
The IQCN protein (UniProt A0A1B0GTV6) is 456 amino acids long and contains an IQ motif that binds calmodulin in a calcium-dependent manner. It is predicted to localize to the cytoplasm and cilia, and may regulate calcium-sensitive processes in neurons and ciliated cells. No crystal structure is available; functional studies are limited.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IQCN Knockout HEK293 Cell Line | EDJ-KQ2615 | Human | 80726 | Details Get a Quote |
| IQCN Knockout HCT 116 Cell Line | EDJ-KQ23336 | Human | 80726 | Details Get a Quote |
| IQCN Knockout HeLa Cell Line | EDJ-KQ57337 | Human | 80726 | Details Get a Quote |
| IQCN Knockout A-549 Cell Line | EDJ-KQ65842 | Human | 80726 | Details Get a Quote |
