SOS2 gene

SOS Ras/Rho guanine nucleotide exchange factor 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a regulatory protein that is involved in the positive regulation of ras proteins. Mutations in this gene are associated with Noonan Syndrome-9. [provided by RefSeq, Jul 2016]

From UniProt:

Promotes the exchange of Ras-bound GDP by GTP.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Noonan syndrome 9

From UniProt:

Noonan syndrome 9 (NS9): A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. [MIM:616559]

Cytogenetic Location: 14q21, which is the long (q) arm of chromosome 14 at position 21

Molecular Location: base pairs 50,117,128 to 50,231,381 on chromosome 14 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 14q21, which is the long (q) arm of chromosome 14 at position 21
  • NS9
  • SOS-2