PTK7 (Protein Tyrosine Kinase 7) Gene: Function, Mutations, and Disease Associations
Comprehensive biomedical overview of PTK7, a pseudokinase involved in Wnt signaling, cell polarity, and cancer progression.
Gene Information Card
| Symbol | PTK7 |
|---|---|
| Full Name | Protein tyrosine kinase 7 (inactive) |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 5754 ncbi.nlm.nih.gov/gene/5754 |
| Ensembl ID | ENSG00000112655 |
| UniProt ID | Q13308 |
| OMIM ID | 601890 |
| HGNC ID | 9618 |
| Aliases | CCK4, CCK-4, FLJ14490, MGC138236 |
Description
PTK7 (protein tyrosine kinase 7) is a catalytically inactive receptor tyrosine kinase (pseudokinase) that functions as a coreceptor in the Wnt/planar cell polarity (PCP) signaling pathway. It plays critical roles in cell migration, polarity, and tissue morphogenesis. PTK7 is implicated in neural tube defects and multiple cancers, including colorectal, lung, and breast cancer, where it can act as an oncogene or tumor suppressor depending on context.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neural tube defects (e.g., spina bifida) | Loss-of-function variants disrupt Wnt/PCP signaling, impairing neural tube closure. | ClinVar, OMIM |
| Colorectal cancer | PTK7 overexpression promotes Wnt/β-catenin signaling and tumor invasion. | COSMIC, NCBI |
| Lung adenocarcinoma | PTK7 upregulation correlates with poor prognosis and metastatic potential. | COSMIC, PubMed |
| Breast cancer | PTK7 expression is associated with aggressive subtypes and chemoresistance. | COSMIC, PubMed |
| Acute myeloid leukemia (AML) | PTK7 is a surface marker on leukemic stem cells; aberrant splicing variants detected. | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Colon | 15.2 | Medium |
| Breast | 9.1 | Low |
| Kidney | 6.7 | Low |
| Liver | 4.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical) | 18.5 | High expression |
| A549 (lung) | 22.1 | High expression |
| MCF7 (breast) | 14.3 | Medium expression |
| HCT116 (colon) | 20.7 | High expression |
| K562 (leukemia) | 8.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1450C>T (p.Arg484*) | Nonsense | <0.1% | Loss of function; associated with neural tube defects |
| c.1123G>A (p.Gly375Arg) | Missense | <0.1% | Unknown significance; reported in AML |
| c.1687_1688insA (p.Thr563Asnfs*2) | Frameshift | <0.1% | Loss of function; neural tube defects |
| c.2012A>G (p.Asn671Ser) | Missense | 0.2% | Gain of function?; observed in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg484*, p.Thr563Asnfs*2) truncate the protein, disrupting Wnt/PCP signaling and causing neural tube defects.
Gain of Function (GOF)
Missense variants such as p.Asn671Ser may enhance PTK7 stability or signaling, potentially promoting oncogenic Wnt/β-catenin activity in colorectal cancer.
Dominant Negative (DN)
No well-characterized dominant-negative mutations reported; however, truncated isoforms could interfere with wild-type PTK7 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Wnt/planar cell polarity (PCP) signaling
• Wnt/β-catenin signaling
• Cell migration and polarity pathways
Protein Summary
PTK7 is a 1070-amino-acid single-pass transmembrane protein with an extracellular immunoglobulin-like domain and an intracellular tyrosine kinase domain that lacks catalytic activity (pseudokinase). It acts as a coreceptor for Wnt ligands, modulating both canonical (β-catenin) and non-canonical (PCP) pathways. PTK7 is glycosylated and localized to the plasma membrane, where it regulates cell polarity, migration, and adhesion. Altered expression or mutation contributes to developmental disorders and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTK7 Knockout HEK293 Cell Line | EDJ-KQ17749 | Human | 5754 | Details Get a Quote |
| PTK7 Knockout HeLa Cell Line | EDJ-KQ18302 | Human | 5754 | Details Get a Quote |
| PTK7 Knockout A-549 Cell Line | EDJ-KQ19820 | Human | 5754 | Details Get a Quote |
| PTK7 Knockout HCT 116 Cell Line | EDJ-KQ19821 | Human | 5754 | Details Get a Quote |
