INTU Gene - Inturned Planar Cell Polarity Protein
Comprehensive gene information for INTU, including function, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | INTU |
|---|---|
| Full Name | inturned planar cell polarity protein |
| Gene Type | protein-coding |
| Chromosomal Location | 4q28.1 |
| NCBI Gene ID | 27152 ncbi.nlm.nih.gov/gene/27152 |
| Ensembl ID | ENSG00000164066 |
| UniProt ID | Q9ULD6 |
| OMIM ID | 610621 |
| HGNC ID | 29239 |
| Aliases | KIAA1284, PDZD6, SRTD20 |
Description
INTU encodes the inturned planar cell polarity protein, which is involved in the planar cell polarity (PCP) pathway and ciliogenesis. It localizes to the basal body of cilia and is essential for proper ciliary function. Mutations in INTU are associated with short-rib thoracic dysplasia 20 with polydactyly and other ciliopathy phenotypes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Short-rib thoracic dysplasia 20 with polydactyly | Loss-of-function mutations disrupt ciliary assembly and PCP signaling | OMIM #617926 |
| Asphyxiating thoracic dystrophy (Jeune syndrome) | Ciliary dysfunction due to INTU variants | ClinVar |
| Ciliopathy-related phenotypes | Impaired ciliogenesis and Hedgehog signaling | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Kidney | 8.7 | Low |
| Lung | 6.5 | Low |
| Brain | 4.2 | Low |
| Liver | 3.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.8 | Embryonic kidney cells |
| HeLa | 7.4 | Cervical cancer cells |
| A549 | 6.1 | Lung carcinoma cells |
| HepG2 | 4.5 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function; premature stop codon |
| c.2345G>A (p.Arg782Gln) | Missense | Rare | Likely damaging; affects ciliary localization |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein and loss of ciliary function, causing ciliopathy phenotypes.
Gain of Function (GOF)
No gain-of-function mutations reported for INTU.
Dominant Negative (DN)
No dominant-negative mutations reported for INTU.
View complete mutation data：
Gene Ontology (GO)
| • GO:0001736 (GO:0001736) | • GO:0030030 (GO:0030030) |
| • GO:0060271 (GO:0060271) | • GO:0005813 (GO:0005813) |
| • GO:0005515 (GO:0005515) |
Pathways
• Planar cell polarity pathway (PCP)
• Ciliogenesis
• Hedgehog signaling pathway
Protein Summary
The INTU protein is a 1018-amino acid polypeptide that localizes to the basal body of primary cilia. It contains a PDZ domain and is involved in planar cell polarity and ciliary assembly. It interacts with other PCP proteins such as VANGL2 and FUZ to regulate ciliogenesis and Hedgehog signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INTU Knockout HEK293 Cell Line | EDJ-KQ8699 | Human | 27152 | Details Get a Quote |
| INTU Knockout HeLa Cell Line | EDJ-KQ34917 | Human | 27152 | Details Get a Quote |
| INTU Knockout A-549 Cell Line | EDJ-KQ34915 | Human | 27152 | Details Get a Quote |
| INTU Knockout HCT 116 Cell Line | EDJ-KQ34916 | Human | 27152 | Details Get a Quote |
