CIMAP2: Cilia and Flagella Associated Protein 2 – Gene Overview
A comprehensive biomedical reference for CIMAP2, including genomic annotation, expression, disease associations, and functional insights.
Gene Information Card
| Symbol | CIMAP2 |
|---|---|
| Full Name | Cilia and flagella associated protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q44 |
| NCBI Gene ID | 129138 ncbi.nlm.nih.gov/gene/129138 |
| Ensembl ID | ENSG00000188783 |
| UniProt ID | Q8N7P3 |
| OMIM ID | 618063 |
| HGNC ID | 27060 |
| Aliases | C1orf66, FLJ32658, bA100M15.1 |
Description
CIMAP2 (Cilia and Flagella Associated Protein 2) is a protein-coding gene located on chromosome 1q44. It encodes a protein that is predicted to be involved in ciliary and flagellar function, though its precise role is not fully characterized. The gene is expressed in various tissues, with notable expression in the testis and respiratory epithelium, consistent with a role in ciliated cells. CIMAP2 has been implicated in certain ciliopathies and may play a role in spermatogenesis and mucociliary clearance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia (PCD) | Potential involvement in ciliary motility defects; mutations may disrupt axonemal structure or function. | Limited evidence; some variants reported in ClinVar, but not yet established as a major PCD gene. |
| Spermatogenic Failure | Possible role in flagellar function; defects may impair sperm motility. | Inferred from expression data and functional homology; no direct clinical evidence. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Lung | 8.2 | Medium |
| Trachea | 7.9 | Medium |
| Brain | 3.1 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 5.4 | Moderate expression |
| A549 | 6.1 | Moderate expression |
| HepG2 | 1.2 | Low expression |
| K562 | 0.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Ter) | Nonsense | Rare (MAF <0.01%) | Predicted to cause loss of function via premature truncation. |
| c.567_568del (p.Glu190fs) | Frameshift | Not reported in population databases | Likely loss of function; may affect protein stability. |
| c.890A>G (p.Gln297Arg) | Missense | Very rare (MAF <0.001%) | Uncertain significance; may affect protein function. |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations are predicted to result in loss of function, potentially leading to ciliary defects.
Gain of Function (GOF)
No evidence for gain-of-function mutations in CIMAP2.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • cilium assembly | • microtubule cytoskeleton organization |
| • cell projection organization | • protein binding |
Pathways
• Ciliary landscape
• Axoneme assembly
Protein Summary
The CIMAP2 protein is predicted to contain coiled-coil domains and may localize to ciliary axonemes. It is thought to contribute to the structural integrity or function of cilia and flagella. Its precise molecular function remains under investigation, but it is likely involved in microtubule-based processes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CIMAP2 Knockout HEK293 Cell Line | EDJ-KQ14056 | Human | 163747 | Details Get a Quote |
| CIMAP2 Knockout HeLa Cell Line | EDJ-KQ58863 | Human | 163747 | Details Get a Quote |
| CIMAP2 Knockout A-549 Cell Line | EDJ-KQ67354 | Human | 163747 | Details Get a Quote |
| CIMAP2 Knockout HCT 116 Cell Line | EDJ-KQ75746 | Human | 163747 | Details Get a Quote |
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