Entity Details

Primary name SHOC2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9UQ13
EntryNameSHOC2_HUMAN
FullNameLeucine-rich repeat protein SHOC-2
TaxID9606
Evidenceevidence at protein level
Length582
SequenceStatuscomplete
DateCreated2001-06-20
DateModified2021-06-02

Ontological Relatives

GenesSHOC2

GO terms

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GOName
GO:0000164 protein phosphatase type 1 complex
GO:0000165 MAPK cascade
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0007165 signal transduction
GO:0007265 Ras protein signal transduction
GO:0008157 protein phosphatase 1 binding
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0019888 protein phosphatase regulator activity
GO:0019903 protein phosphatase binding
GO:0046579 positive regulation of Ras protein signal transduction

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR001611 Leucine-rich repeatRepeatRepeat
IPR003591 Leucine-rich repeat, typical subtypeRepeatRepeat
IPR027036 Leucine-rich repeat protein SHOC2FamilyFamily
IPR032675 Leucine-rich repeat domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
607721 OMIMNoonan syndrome-like disorder with loose anagen hair 1 (NSLH1)A syndrome characterized by Noonan dysmorphic features such as macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set and posteriorly rotated ears, short and webbed neck, pectus anomalies, in association with pluckable, sparse, thin and slow-growing hair. The disease is caused by variants affecting the gene represented in this entry.