SHOC2 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- SHOC2 (HGNC:15454) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- SHOC2 leucine rich repeat scaffold protein
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- KIAA0862, SOC2, SUR-8, SOC-2, SUR8
- %HI
- 5.7(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.14(Read more about gnomAD LOEUF score)
- Cytoband
- 10q25.2
- Genomic Coordinates
-
GRCh37/hg19: chr10:112679128-112773423 NCBI Ensembl UCSC GRCh38/hg38: chr10:110919370-111013665 NCBI Ensembl UCSC - MANE Select Transcript
- NM_007373.4 ENST00000369452.9 (Read more about MANE Select)
- Function
- 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. {ECO:0000269|PubMed:10783161, ECO:0000269|PubMed:16630891, ECO:0000269|PubMed:25137548}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-11563
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
09/25/2018
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence:
-
PUBMED:
24739123
Chen et al. (2014): This paper describes a child with Noonan-like phenotype who has a 183Kb deletion of SHOC2 and another gene, BBIP1. Child was referred for a complex heart defect and clinical evaluation revealed dysmorphic features, microcephaly and normal intelligence with hyperactivity. The authors propose that haploinsufficiency of SHOC2 resulted in the phenotype. The contribution of BBIP1 to the phenotype is uncertain.
HI Evidence Comments:
SHOC2 is a scaffold protein in the ERK1/2 pathway, which tethers RAS, RAF-1 and the catalytic subunit of protein phosphatase 1c (PP1c). Only a few specific missense mutations have been identified in association with a RAS-opathy-like phenotype [PMID:19684605, 25137548]. In these cases, the mutant protein was functional but impaired, leading to abnormal signaling, localization and/or assembly of the SHOC2/RAS/RAF1/PP1c complex. Evidence to support haploinsufficiency of this gene is very limited.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000010.10)
(NC_000010.11)