SHOC2 Chromosome 10
SHOC2 leucine rich repeat scaffold protein
Upload your DNA to see your personal genotypes for variants in SHOC2.
What This Gene Does
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]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
10q25.2
Ensembl
ENSG00000108061
Associated Conditions (13)
Noonan syndrome 3
RASopathy
Cardiovascular phenotype
Noonan syndrome-like disorder with loose anagen hair 1
Noonan syndrome-like disorder with loose anagen hair
SHOC2-related disorder
Noonan syndrome and Noonan-related syndrome
Noonan syndrome
Polycystic kidney disease 4
Pectus excavatum
Houge-Janssens syndrome 2
Non-immune hydrops fetalis
See cases
Key Variants
RS1026930115
Conflicting classifications of pathogenicity
Noonan syndrome 3, RASopathy, Cardiovascular phenotype
Health Risk
RS1057217316
Conflicting classifications of pathogenicity
Noonan syndrome-like disorder with loose anagen hair 1, Noonan syndrome-like disorder with loose anagen hair 1
Health Risk
RS1057518206
Conflicting classifications of pathogenicity
Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome-like disorder with loose anagen hair 1, RASopathy
Health Risk
RS143242369
Conflicting classifications of pathogenicity
RASopathy, Cardiovascular phenotype, RASopathy
Health Risk
RS147068827
Conflicting classifications of pathogenicity
RASopathy, Noonan syndrome-like disorder with loose anagen hair 1, Noonan syndrome and Noonan-related syndrome
Health Risk
RS1485718634
Conflicting classifications of pathogenicity
RASopathy, Noonan syndrome and Noonan-related syndrome, RASopathy
Health Risk
RS1564714645
Conflicting classifications of pathogenicity
Noonan syndrome, RASopathy, Noonan syndrome-like disorder with loose anagen hair 1
Health Risk
RS192673935
Conflicting classifications of pathogenicity
Noonan syndrome-like disorder with loose anagen hair 1, Noonan syndrome-like disorder with loose anagen hair 1
Health Risk
RS199869304
Conflicting classifications of pathogenicity
Noonan syndrome and Noonan-related syndrome, RASopathy, Noonan syndrome and Noonan-related syndrome
Health Risk
RS200015085
Conflicting classifications of pathogenicity
RASopathy, Noonan syndrome-like disorder with loose anagen hair 1, Cardiovascular phenotype
Health Risk
RS201289608
Conflicting classifications of pathogenicity
RASopathy, RASopathy
Health Risk
RS2493945713
Conflicting classifications of pathogenicity
RASopathy, RASopathy
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1026930115 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 3, RASopathy, Cardiovascular phenotype |
| RS1057217316 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome-like disorder with loose anagen hair 1, Noonan syndrome-like disorder with loose anagen hair 1 |
| RS1057518206 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome-like disorder with loose anagen hair 1, RASopathy |
| RS143242369 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, Cardiovascular phenotype, RASopathy |
| RS147068827 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, Noonan syndrome-like disorder with loose anagen hair 1, Noonan syndrome and Noonan-related syndrome |
| RS1485718634 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, Noonan syndrome and Noonan-related syndrome, RASopathy |
| RS1564714645 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome, RASopathy, Noonan syndrome-like disorder with loose anagen hair 1 |
| RS192673935 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome-like disorder with loose anagen hair 1, Noonan syndrome-like disorder with loose anagen hair 1 |
| RS199869304 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome and Noonan-related syndrome, RASopathy, Noonan syndrome and Noonan-related syndrome |
| RS200015085 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, Noonan syndrome-like disorder with loose anagen hair 1, Cardiovascular phenotype |
| RS201289608 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, RASopathy |
| RS2493945713 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, RASopathy |
| RS371640183 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, Cardiovascular phenotype, RASopathy |
| RS536611911 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, Noonan syndrome-like disorder with loose anagen hair 1, Cardiovascular phenotype |
| RS539117121 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype |
| RS539394184 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome-like disorder with loose anagen hair 1, Noonan syndrome-like disorder with loose anagen hair 1 |
| RS557334390 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome-like disorder with loose anagen hair 1, Noonan syndrome-like disorder with loose anagen hair 1 |
| RS72819758 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome-like disorder with loose anagen hair 1, Noonan syndrome and Noonan-related syndrome, Noonan syndrome-like disorder with loose anagen hair 1 |
| RS730881017 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, Cardiovascular phenotype, RASopathy |
| RS730881019 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, Noonan syndrome-like disorder with loose anagen hair 1, Noonan syndrome |
| RS753237615 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome-like disorder with loose anagen hair 1, RASopathy, Noonan syndrome-like disorder with loose anagen hair 1 |
| RS758241851 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, RASopathy |
| RS759714493 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, RASopathy |
| RS779218281 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, Cardiovascular phenotype, RASopathy |
| RS864309599 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome-like disorder with loose anagen hair 1, Noonan syndrome, RASopathy |
| RS995403413 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome-like disorder with loose anagen hair 1, Cardiovascular phenotype, RASopathy |
| RS2134121169 | Health Risk | Likely pathogenic | Noonan syndrome-like disorder with loose anagen hair 1, Noonan syndrome-like disorder with loose anagen hair 1 |
| RS2134121762 | Health Risk | Likely pathogenic | Noonan syndrome, Noonan syndrome |
| RS1848064627 | Health Risk | Pathogenic | Noonan syndrome-like disorder with loose anagen hair 1, Noonan syndrome-like disorder with loose anagen hair 1 |
| RS267607048 | Health Risk | Pathogenic | Noonan syndrome-like disorder with loose anagen hair 1, RASopathy, Noonan syndrome |
| RS730881020 | Health Risk | Pathogenic | Noonan syndrome-like disorder with loose anagen hair 1, RASopathy, Non-immune hydrops fetalis |