PTK2B
Protein Tyrosine Kinase 2 Beta
Gene Information Card
| Symbol | PTK2B |
|---|---|
| Full Name | Protein Tyrosine Kinase 2 Beta |
| Gene Type | protein-coding |
| Chromosomal Location | 8p21.2 |
| NCBI Gene ID | 2185 ncbi.nlm.nih.gov/gene/2185 |
| Ensembl ID | ENSG00000120899 |
| UniProt ID | Q14289 |
| OMIM ID | 601212 |
| HGNC ID | 9612 |
| Aliases | PYK2, RAFTK, CADTK, FAK2, FADK2 |
Description
PTK2B (protein tyrosine kinase 2 beta) encodes a cytoplasmic non-receptor protein tyrosine kinase that is a member of the focal adhesion kinase (FAK) subfamily. The protein is involved in calcium-induced regulation of ion channels and activation of the MAP kinase signaling pathway. It plays a role in cell migration, adhesion, and survival, and is implicated in cancer progression and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | PTK2B variants are associated with increased risk; protein interacts with tau and amyloid-beta pathways | ClinVar, OMIM |
| Breast cancer | Overexpression and amplification promote cell migration and invasion | COSMIC, NCBI |
| Glioblastoma | PTK2B activation contributes to tumor growth and resistance to therapy | COSMIC |
| Asthma | PTK2B polymorphisms linked to airway hyperresponsiveness | OMIM |
| Leukemia | Fusion events and altered expression in acute myeloid leukemia | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Lung | 12.3 | Medium |
| Breast | 8.7 | Medium |
| Liver | 4.2 | Low |
| Kidney | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney |
| MCF7 | 22.1 | Breast cancer |
| A549 | 18.9 | Lung cancer |
| U87MG | 35.4 | Glioblastoma |
| K562 | 9.8 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg553Gln | Missense | <0.01% | Unknown significance; reported in Alzheimer disease |
| p.Val722Ile | Missense | <0.01% | Unknown significance |
| p.Pro1118Leu | Missense | <0.01% | Unknown significance |
| p.Arg481Cys | Missense | <0.01% | Unknown significance |
| p.Glu101Lys | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in PTK2B.
Gain of Function (GOF)
Amplification and overexpression in cancers suggest gain-of-function effects.
Dominant Negative (DN)
Not described for PTK2B.
View complete mutation data：
Gene Ontology (GO)
| • protein tyrosine kinase activity | • ATP binding |
| • cell migration | • integrin-mediated signaling pathway |
| • positive regulation of cell proliferation | • focal adhesion assembly |
Pathways
• Focal adhesion (KEGG: hsa04510)
• MAPK signaling (KEGG: hsa04010)
• ErbB signaling (KEGG: hsa04012)
• Chemokine signaling (KEGG: hsa04062)
Protein Summary
PTK2B (PYK2) is a 1009-amino-acid cytoplasmic tyrosine kinase with a central kinase domain, N-terminal FERM domain, and C-terminal focal adhesion targeting (FAT) domain. It is activated by calcium influx and integrin engagement, leading to autophosphorylation and recruitment of Src family kinases. PTK2B regulates cytoskeletal dynamics, cell adhesion, and survival signals. Its dysregulation is linked to cancer metastasis and Alzheimer disease pathology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTK2B Knockout HEK293 Cell Line | EDJ-KQ992 | Human | 2185 | Details Get a Quote |
| PTK2B Knockout A-549 Cell Line | EDJ-KQ21372 | Human | 2185 | Details Get a Quote |
| PTK2B Knockout HCT 116 Cell Line | EDJ-KQ21373 | Human | 2185 | Details Get a Quote |
| PTK2B Knockout HeLa Cell Line | EDJ-KQ21374 | Human | 2185 | Details Get a Quote |
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