SHOC2 Q269_H270delinsHY [cytosol]

Stable Identifier
R-HSA-9660464
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Leucine-rich repeat protein SHOC-2, SHOC2_HUMAN
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
31059601 Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

Motta, M, Giancotti, A, Mastromoro, G, Chandramouli, B, Pinna, V, Pantaleoni, F, Di Giosaffatte, N, Petrini, S, Mazza, T, D'Ambrosio, V, Versacci, P, Ventriglia, F, Chillemi, G, Pizzuti, A, Tartaglia, M, De Luca, A

Hum. Mutat. 2019
External Reference Information
External Reference
Gene Names
SHOC2, KIAA0862
Chain
chain:1-582
Other Identifiers
0002690324
11724482_x_at
11724483_s_at
16709223
202777_at
3264006
3264011
3264012
3264013
3264014
3264022
3264030
3264031
3264032
3264033
3264034
3264035
3264038
3264039
3264040
38659_at
7930470
8036
A_14_P108938
A_14_P116638
A_23_P202565
GE53546
GO:0000164
GO:0003674
GO:0005515
GO:0005575
GO:0005622
GO:0005634
GO:0005654
GO:0005737
GO:0005829
GO:0006464
GO:0007165
GO:0007265
GO:0008150
GO:0008157
GO:0008543
GO:0019888
GO:0019899
GO:0019903
GO:0030234
GO:0032991
GO:0043226
GO:0043666
GO:0046579
ILMN_2158242
PH_hs_0005786
TC10000809.hg
g6677944_3p_at
Participant Of
Other forms of this molecule
Modified Residues
Name
Replacement of residues 269 to 270 by HY
Disease
Name Identifier Synonyms
Noonan syndrome 3490 Turner's phenotype, karyotype normal (disorder)
Interactors (1)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q96RT1 ERBIN  1 0.623 4
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