SHOC2 S2G [cytosol]

Stable Identifier
R-HSA-9660457
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Leucine-rich repeat protein SHOC-2, SHOC2_HUMAN
Icon
SHOC2 S2G [cytosol] icon
SHOC2 S2G [cytosol] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
19684605 Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Zenker, M, Martinelli, S, Di Schiavi, E, Cordeddu, V, Ferrero, GB, Cardinale, A, Bartholdi, D, Merlo, D, Anichini, C, Iyengar, R, Tartaglia, M, Tenconi, R, Schackwitz, W, Cecchetti, S, Digilio, MC, Gelb, BD, Zampino, G, Pennacchio, LA, Bazzicalupo, P, Sarkozy, A, Ma'ayan, A, Kutsche, K, Fodale, V, Lipzen, A, Dallapiccola, B, Flex, E, Lepri, F, Martin, J, Selicorni, A, Rossi, C, Mazzanti, L

Nat. Genet. 2009
External Reference Information
External Reference
UniProt:Q9UQ13 SHOC2
Gene Names
SHOC2, KIAA0862
Chain
chain:1-582
Reference Genes
BioGPS Gene:8036 SHOC2
COSMIC (genes):SHOC2 SHOC2
CTD Gene:8036 SHOC2
dbSNP Gene:8036 SHOC2
ENSEMBL:ENSG00000108061.13 SHOC2
HGNC:15454 SHOC2
KEGG Gene (Homo sapiens):8036 SHOC2
Monarch:8036 SHOC2
NCBI Gene:8036 SHOC2
OMIM:602775 SHOC2
UCSC:Q9UQ13 SHOC2
Reference Transcript
Other Identifiers
11724482_x_at
11724483_s_at
16709223
16709239
16709242
202777_PM_at
202777_at
3264005
3264006
3264010
3264011
3264012
3264013
3264014
3264022
3264030
3264031
3264032
3264033
3264034
3264035
3264038
3264039
3264040
3264042
3264044
3264046
3264048
3264050
38659_at
7930470
8036
A_14_P108938
A_14_P116638
A_19_P00801459
A_21_P0007078
A_23_P202565
GE53546
GO:0000164
GO:0005515
GO:0005634
GO:0005654
GO:0005737
GO:0005829
GO:0007165
GO:0007265
GO:0008157
GO:0008543
GO:0019888
GO:0019903
GO:0023052
GO:0043226
GO:0046579
GO:0098772
HMNXSV003002948
HMNXSV003006193
ILMN_2158242
PH_hs_0005786
TC10000809.hg
TC10002288.hg
TC10002289.hg
g6677944_3p_at
p18209
Participates
as a member of
Other forms of this molecule
SHOC2 Q269_H270delinsHY [cytosol]
SHOC2 M173I [cytosol]
SHOC2 [cytosol]
Modified Residues
Name
L-serine 2 replaced with glycine
Coordinate
2
PsiMod
L-serine removal [MOD:01646]
A protein modification that effectively removes or replaces an L-serine.
glycine residue [MOD:00017]
A protein modification that effectively converts a source amino acid residue to a glycine.
Disease
Name Identifier Synonyms
Noonan syndrome DOID:3490 Turner's phenotype, karyotype normal (disorder)
chronic myeloid leukemia DOID:8552 CML, chronic myelogenous leukemia, no ICD-O subtype (morphologic abnormality), chronic myeloid leukemia, disease (disorder), chronic myeloid leukemia without mention of remission, CML - chronic Myelogenous Leukemia, chronic myeloid leukemia in remission (disorder), Myeloid Leukemia, chronic, CML in Remission, chronic myeloid leukemia in remission, chronic myeloid leukaemia, chronic myeloid leukemia NOS (disorder)
Cross References
RefSeq
COSMIC
ClinGen
OpenTargets
HPA
GeneCards
Ensembl
PRO
Pharos - Targets
Orphanet
PDB
Interactors (1)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q96RT1 ERBIN  1 0.623 4
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