PTK2

Chr 8

protein tyrosine kinase 2

Also known as: FADK, FADK 1, FAK, FAK1, FRNK, PPP1R71, p125FAK, pp125FAK

NCBI Gene: 5747ENSG00000169398UniProt: Q05397OMIM: 600758

This gene encodes focal adhesion kinase (FAK), a non-receptor protein tyrosine kinase that regulates cell migration, adhesion, cytoskeletal organization, and is required for normal embryonic development including heart and nervous system development. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability, seizures, and congenital heart defects. The gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.24), reflecting its essential role in development.

OMIMResearchSummary from RefSeq, UniProt
LOFmechanismLOEUF 0.24
Clinical Summary— PTK2
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint
0.24LOEUF
pLI 1.000
Z-score 6.62
OE 0.14 (0.09–0.24)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
3.44Z-score
OE missense 0.60 (0.55–0.66)
358 obs / 593.7 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios
LoF OE0.14 (0.09–0.24)
0≤0.351.4
Missense OE0.60 (0.55–0.66)
0≤0.61.4
Synonymous OE1.03
0≤1.21.6
LoF obs/exp: 10 / 69.7Missense obs/exp: 358 / 593.7Syn Z: -0.37
DN
0.4983th %ile
GOF
0.6247th %ile
LOF
0.64top 25%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.24

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PTK2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
circ-PTK2 (hsa_circ_0008305) regulates the pathogenic processes of ovarian cancer via miR-639 and FOXC1 regulatory cascade
Wu SG et al.·Cancer Cell Int
2021
The mechanism of L1 cell adhesion molecule interacting with protein tyrosine kinase 2 to regulate the focal adhesion kinase-growth factor receptor-bound protein 2-son of sevenless-rat sarcoma pathway in the identification and treatment of type I high-risk endometrial cancer
He W et al.·Cytojournal
2024Functional
Focal Adhesion Kinase Variants May Contribute to Risk of Human Myelomeningocele
Youmans L et al.·medRxiv
2025
Identification of genes and pathways leading to poor prognosis of non-small cell lung cancer using integrated bioinformatics analysis
Cui S et al.·Transl Cancer Res
2022
Distinct patterns of cell adhesion, migration, and morphology in olfactory neuroepithelium cells of bipolar disorder patients
Delgado-Sequera A et al.·Mol Med
2024Cohort
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Elucidating the PTK2-Targeted Anti-Hepatocellular Carcinoma Effects of Euphorbia helioscopia L. via Integrated Network Pharmacology, Mendelian Randomization, and Experimental Validation.
Zhu J et al.·Curr Issues Mol Biol
2026Open Access
Treponema pallidum lipoprotein Tp0768 promotes H3K18 Lactylation modification to target PTK2 and enhance endothelial permeability.
Li Y et al.·Int Immunopharmacol
2026
Integrative multi-omics and experimental analyses implicate PTK2 as a lorazepam-associated biomarker and potential therapeutic target in ovarian cancer.
Hong X et al.·Front Pharmacol
2025Open Access
Astragaloside IV Alleviates Systemic Lupus Erythematosus by Modulating ITGB1/PTK2/p38 Pathway: Integrated Network Pharmacology and Experimental Validation.
Tang Z et al.·Drug Des Devel Ther
2025Open Access
FUS-stabilized USP7 facilitates the bevacizumab resistance of ovarian cancer through deubiquitinating PTK2.
Wen X et al.·J Gynecol Oncol
2026Open Access
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients