|
gptkbp:instanceOf
|
gptkb:protein
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:Leucine-rich_repeat_protein_SHOC-2
gptkb:SOC-2_suppressor_of_clear_homolog
|
|
gptkbp:associatedWith
|
gptkb:Noonan-like_syndrome_with_loose_anagen_hair
|
|
gptkbp:discoveredBy
|
genomic studies
|
|
gptkbp:encodes
|
gptkb:Leucine-rich_repeat_protein_SHOC-2
|
|
gptkbp:Entrez_Gene_ID
|
8036
ENSG00000107929
|
|
gptkbp:expressedIn
|
various human tissues
|
|
gptkbp:function
|
scaffold protein in RAS-MAPK signaling pathway
|
|
gptkbp:HGNC_ID
|
HGNC:29982
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SHOC2
|
|
gptkbp:interactsWith
|
gptkb:MRAS
gptkb:RAF1
gptkb:PP1C
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_10
|
|
gptkbp:molecularWeight
|
~65 kDa
|
|
gptkbp:mutationAssociatedWith
|
causes developmental disorders
|
|
gptkbp:OMIM
|
602775
|
|
gptkbp:orthologInMouse
|
gptkb:Shoc2
|
|
gptkbp:pathway
|
gptkb:RAS_signaling_pathway
gptkb:MAPK/ERK_pathway
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
gptkb:cytoplasm
|
|
gptkbp:UniProtID
|
Q9UQ13
|
|
gptkbp:bfsParent
|
gptkb:Noonan_syndrome
|
|
gptkbp:bfsLayer
|
6
|