PTPN11 protein tyrosine phosphatase non-receptor type 11

Gene info

Synonyms

BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2

Previous symbol

NS1

External ID

HGNC: 9644
Entrez Gene: 5781
Ensembl: ENSG00000179295
UCSC: uc001ttx.4
OMIM: 176876
UniProtKB: Q06124

Disease info

Disease

CHD Phenotype

  • Atrial septal defect
  • Pulmonic stenosis
  • Dysplastic mitral valve

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: Mice heterozygous or homozygous for a single base mutation or homozygous for a null allele have CHD

MGI ID

99511

Variant info

Clinvar

PTPN11

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for PTPN11: BED file

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Selected References

  1. Ezquieta, B., Santomé, J. L., Carcavilla, A., Guillén-Navarro, E., Pérez-Aytés, A., Sánchez del Pozo, J., García-Miñaur, S., Castillo, E., Alonso, M., Vendrell, T., Santana, A., Maroto, E., & Galbis, L. (2012). Alteraciones de los genes de la vía RAS-MAPK en 200 pacientes españoles con síndrome de Noonan y otros síndromes neurocardiofaciocutáneos. Genotipo y cardiopatía. Revista Española de Cardiología, 65(5), 447–455. https://doi.org/10.1016/j.recesp.2011.12.016 DOI:10.1016/j.recesp.2011.12.016 PMID:22465605
  2. Şimşek-Kiper, P., Alanay, Y., Gülhan, B., Lissewski, C., Türkyılmaz, D., Alehan, D., Çetin, M., Utine, G., Zenker, M., & Boduroğlu, K. (2012). Clinical and molecular analysis of RASopathies in a group of Turkish patients. Clinical Genetics, 83(2), 181–186. https://doi.org/10.1111/j.1399-0004.2012.01875.x DOI:10.1111/j.1399-0004.2012.01875.x PMID:22420426
  3. Čizmárová, M., Hlinková, K., Bertok, S., Kotnik, P., Duba, H. C., Bertalan, R., Poločková, K., Košťálová, Ľ., Pribilincová, Z., Hlavatá, A., Kovács, L., & Ilenčíková, D. (2015). New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations. Annals of Human Genetics, 80(1), 50–62. Portico. https://doi.org/10.1111/ahg.12140 DOI:10.1111/ahg.12140 PMID:26607044