SHOC2 S2G [cytosol]

Stable Identifier
R-HSA-9660457
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Leucine-rich repeat protein SHOC-2, SHOC2_HUMAN
SHOC2 S2G [cytosol] icon
Locations in the PathwayBrowser
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
Gene Names
SHOC2, KIAA0862
Chain
chain:1-582
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:0010976
GO:0019888
GO:0019903
GO:0023052
GO:0030154
GO:0038180
GO:0043226
GO:0045665
GO:0045666
GO:0046579
GO:0048856
GO:0071378
GO:0098772
GO:2000178
HMNXSV003002948
HMNXSV003006193
ILMN_2158242
PH_hs_0005786
TC10000809.hg
TC10002288.hg
TC10002289.hg
g6677944_3p_at
p18209
Participates
Other forms of this molecule
Modified Residues
Name
L-serine 2 replaced with glycine
Coordinate
2
PsiMod
A protein modification that effectively removes or replaces an L-serine.
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)
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