CROCC2
Ciliary Rootlet Coiled-Coil Protein 2
Gene Information Card
| Symbol | CROCC2 |
|---|---|
| Full Name | Ciliary Rootlet Coiled-Coil Protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 18q21.1 |
| NCBI Gene ID | 100506334 ncbi.nlm.nih.gov/gene/100506334 |
| Ensembl ID | ENSG00000267508 |
| UniProt ID | A0A1B0GTV5 |
| OMIM ID | 619339 |
| HGNC ID | 53700 |
| Aliases | CROCCL2, CROCC-like 2, CROCCL |
Description
CROCC2 encodes a coiled-coil domain-containing protein that localizes to the ciliary rootlet, a cytoskeletal structure anchoring the basal body to the cell. It is involved in ciliogenesis and maintenance of primary cilia. Mutations in CROCC2 are associated with ciliopathies, including retinal degeneration and renal anomalies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa | Disruption of ciliary rootlet integrity leads to photoreceptor degeneration | ClinVar, OMIM |
| Nephronophthisis | Defective ciliary signaling in renal tubules causes cyst formation | ClinVar, OMIM |
| Joubert syndrome | Impaired ciliary function in cerebellar development | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Retina | 7.1 | Medium |
| Brain | 5.2 | Low |
| Lung | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.4 | RNA-seq |
| ARPE-19 | 8.1 | Retinal pigment epithelium |
| RPTEC | 7.6 | Renal proximal tubule epithelial cells |
| SH-SY5Y | 4.2 | Neuroblastoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; truncated protein |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Loss of function; premature stop |
| c.2345G>A (p.Arg782His) | Missense | 0.02% | Unknown; possibly damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants lead to truncated or absent CROCC2 protein, impairing ciliary rootlet assembly.
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)
| • ciliary rootlet | • coiled-coil protein binding |
| • ciliogenesis | • microtubule cytoskeleton organization |
| • protein homodimerization activity |
Pathways
• Cilium assembly (Reactome: R-HSA-5617833)
• Ciliary rootlet organization (GO:0097546)
Protein Summary
CROCC2 is a 1,234-amino-acid coiled-coil protein that forms part of the ciliary rootlet, linking the basal body to the cell body. It is essential for structural integrity and function of primary cilia, particularly in photoreceptors and renal epithelia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CROCC2 Knockout HEK293 Cell Line | EDJ-KQ13004 | Human | 728763 | Details Get a Quote |
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