CATIP Gene (Ciliogenesis Associated TTC17 Interacting Protein)
Comprehensive gene card for CATIP, including genomic context, expression, and disease associations.
Gene Information Card
| Symbol | CATIP |
|---|---|
| Full Name | Ciliogenesis Associated TTC17 Interacting Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 2q33.1 |
| NCBI Gene ID | 100506334 ncbi.nlm.nih.gov/gene/100506334 |
| Ensembl ID | ENSG00000204103 |
| UniProt ID | Q5VUJ9 |
| OMIM ID | 617066 |
| HGNC ID | 37263 |
| Aliases | C2orf62, MGC16384, FLJ32786 |
Description
CATIP (Ciliogenesis Associated TTC17 Interacting Protein) is a protein-coding gene located on chromosome 2q33.1. It encodes a protein involved in ciliogenesis, interacting with TTC17 to regulate primary cilium assembly. The gene is expressed in various tissues and has been implicated in ciliopathies and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Joubert syndrome | Disrupted ciliogenesis due to CATIP dysfunction | Limited evidence; inferred from ciliary function |
| Retinitis pigmentosa | Defective ciliary transport in photoreceptors | Inferred from pathway similarity |
| Cancer (general) | Altered ciliary signaling affecting cell cycle | COSMIC mutation data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 3.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 7.3 | Low expression |
| A549 | 6.8 | Low expression |
| K562 | 4.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200A>G (p.Tyr67Cys) | Missense | <0.01% | Unknown; predicted benign |
| c.415C>T (p.Arg139Trp) | Missense | <0.01% | Unknown; predicted damaging |
| c.523_524insA | Frameshift | <0.001% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants likely cause loss of function, impairing ciliogenesis.
Gain of Function (GOF)
No evidence for gain-of-function mutations in CATIP.
Dominant Negative (DN)
Not reported; potential dominant-negative effects unknown.
View complete mutation data：
Gene Ontology (GO)
| • cell projection organization (GO:0030030) | • cilium assembly (GO:0060271) |
| • protein binding (GO:0005515) |
Pathways
• Ciliogenesis (Reactome: R-HSA-5620912)
• Primary cilium assembly (KEGG: hsa04520)
Protein Summary
The CATIP protein (UniProt Q5VUJ9) is a 267-amino acid protein that interacts with TTC17 to promote ciliogenesis. It localizes to the centrosome and basal body, facilitating primary cilium formation. The protein is conserved in vertebrates and contains coiled-coil domains.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CATIP Knockout HEK293 Cell Line | EDJ-KQ12736 | Human | 375307 | Details Get a Quote |
| CATIP Knockout HeLa Cell Line | EDJ-KQ59918 | Human | 375307 | Details Get a Quote |
| CATIP Knockout A-549 Cell Line | EDJ-KQ68380 | Human | 375307 | Details Get a Quote |
| CATIP Knockout HCT 116 Cell Line | EDJ-KQ76759 | Human | 375307 | Details Get a Quote |
