SHOC2 SHOC2 leucine rich repeat scaffold protein
Gene ID: 8036, updated on 5-Mar-2024Gene type: protein coding
Also known as: SOC2; SUR8; NSLH1; SIAA0862
- See all available tests in GTR for this gene
- Go to complete Gene record for SHOC2
- Go to Variation Viewer for SHOC2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Noonan syndrome-like disorder with loose anagen hair 1 | See labs |
Copy number response
Description |
---|
Copy number response Triplosensitivity No evidence available (Last evaluated 2018-09-25) ClinGen Genome Curation PageHaploinsufficency |
Genomic context
- Location:
- 10q25.2
- Sequence:
- Chromosome: 10; NC_000010.11 (110919370..111013665)
- Total number of exons:
- 11
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for SHOC2 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- NSEuroNet database - SHOC2
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SHOC2 database
- SNP: GeneViewSNPs linked from GeneView
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