SHOC2 SHOC2 leucine rich repeat scaffold protein

Gene info

Synonyms

KIAA0862, SOC2, SUR-8, SOC-2, SUR8

Previous symbol

None

External ID

HGNC: 15454
Entrez Gene: 8036
Ensembl: ENSG00000108061
UCSC: uc001kzl.5
OMIM: 602775
UniProtKB: Q9UQ13

Disease info

Disease

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Pulmonic stenosis
  • Dysplastic mitral valve
  • Dysplastic tricuspid valve

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: No cardiovascular defect recorded in knockout mice

MGI ID

1927197

Variant info

Clinvar

SHOC2

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for SHOC2: BED file

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Selected References

  1. Şimşek-Kiper, P., Alanay, Y., Gülhan, B., Lissewski, C., Türkyılmaz, D., Alehan, D., Çetin, M., Utine, G., Zenker, M., & Boduroğlu, K. (2012). Clinical and molecular analysis of RASopathies in a group of Turkish patients. Clinical Genetics, 83(2), 181–186. https://doi.org/10.1111/j.1399-0004.2012.01875.x DOI:10.1111/j.1399-0004.2012.01875.x PMID:22420426
  2. Čizmárová, M., Hlinková, K., Bertok, S., Kotnik, P., Duba, H. C., Bertalan, R., Poločková, K., Košťálová, Ľ., Pribilincová, Z., Hlavatá, A., Kovács, L., & Ilenčíková, D. (2015). New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations. Annals of Human Genetics, 80(1), 50–62. Portico. https://doi.org/10.1111/ahg.12140 DOI:10.1111/ahg.12140 PMID:26607044