Search for a gene
PTEN - phosphatase and tensin homolog
- Synonym(s) : MMAC1, mutated in multiple advanced cancers 1, PTEN1, TEP1
- Previous symbols and names : BZS, MHAM
- Type : gene with protein product
- Chromosomal location : 10q23.31
- OMIM: 601728
- HGNC: 9588
- UniProtKB: P60484
- Genatlas: PTEN
- GenCC: PTEN
- Ensembl: ENSG00000171862
- IUPHAR-DB: 2497
- Reactome: P60484
- LOVD: PTEN
Diseases list
- Disease-causing germline mutation(s) in Bannayan-Riley-Ruvalcaba syndrome
ORPHA:109 
- Disease-causing germline mutation(s) in Bilateral frontoparietal polymicrogyria
ORPHA:101070 - Disease-causing germline mutation(s) in Macrocephaly-intellectual disability-autism syndrome
ORPHA:210548 - Disease-causing germline mutation(s) in Proteus-like syndrome
ORPHA:2969 - Disease-causing germline mutation(s) in Proteus syndrome
ORPHA:744 - Disease-causing germline mutation(s) in Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
ORPHA:137608 - Disease-causing germline mutation(s) (loss of function) in Activated PI3K-delta syndrome
ORPHA:397596 - Disease-causing germline mutation(s) (loss of function) in Cowden syndrome
ORPHA:201 - Disease-causing germline mutation(s) (loss of function) in Lhermitte-Duclos disease
ORPHA:65285 - Disease-causing somatic mutation(s) in Squamous cell carcinoma of salivary glands
ORPHA:500481 - Disease-causing somatic mutation(s) in Squamous cell carcinoma of the hypopharynx
ORPHA:494547 - Disease-causing somatic mutation(s) in Squamous cell carcinoma of the larynx
ORPHA:494550 - Disease-causing somatic mutation(s) in Squamous cell carcinoma of the lip
ORPHA:502366 - Disease-causing somatic mutation(s) in Squamous cell carcinoma of the nasal cavity and paranasal sinuses
ORPHA:500464 - Disease-causing somatic mutation(s) in Squamous cell carcinoma of the oral cavity
ORPHA:502363 - Disease-causing somatic mutation(s) in Squamous cell carcinoma of the oropharynx
ORPHA:500478 - Role in the phenotype of Juvenile polyposis of infancy
ORPHA:79076 - Candidate gene tested in Hereditary breast and/or ovarian cancer syndrome
ORPHA:145
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.