SHOC2 gene

SHOC2, leucine rich repeat scaffold protein

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

From NCBI Gene:

This gene encodes a protein that consists almost entirely of leucine-rich repeats, a domain implicated in protein-protein interactions. The protein may function as a scaffold linking RAS to downstream signal transducers in the RAS/ERK MAP kinase signaling cascade. Mutations in this gene have been associated with Noonan-like syndrome with loose anagen hair. [provided by RefSeq, May 2010]

From UniProt:

Regulatory subunit of protein phosphatase 1 (PP1c) that acts as a M-Ras/MRAS effector and participates in MAPK pathway activation. Upon M-Ras/MRAS activation, targets PP1c to specifically dephosphorylate the 'Ser-259' inhibitory site of RAF1 kinase and stimulate RAF1 activity at specialized signaling complexes.

From NCBI Gene:

  • Noonan-like syndrome with loose anagen hair

From UniProt:

Noonan syndrome-like disorder with loose anagen hair (NSLH): A syndrome characterized by Noonan dysmorphic features such as macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set and posteriorly rotated ears, short and webbed neck, pectus anomalies, in association with pluckable, sparse, thin and slow-growing hair. [MIM:607721]

Cytogenetic Location: 10q25.2, which is the long (q) arm of chromosome 10 at position 25.2

Molecular Location: base pairs 110,919,370 to 111,013,667 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10q25.2, which is the long (q) arm of chromosome 10 at position 25.2
  • SIAA0862
  • SOC2
  • SUR8