|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
cortical development
|
|
gptkbp:discoveredIn
|
2001
|
|
gptkbp:domain
|
gptkb:RhoGAP_domain
SH3 domain
F-BAR domain
|
|
gptkbp:duplicationEvent
|
occurred in human lineage
|
|
gptkbp:encodes
|
SLIT-ROBO Rho GTPase-activating protein 2
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000163599
Homo sapiens: 9892
|
|
gptkbp:expressedIn
|
brain
|
|
gptkbp:fullName
|
SLIT-ROBO Rho GTPase activating protein 2
|
|
gptkbp:function
|
neuronal differentiation
regulation of neuronal migration
modulation of actin cytoskeleton
|
|
gptkbp:hasParalog
|
SRGAP2B
SRGAP2C
SRGAP2D
|
|
gptkbp:HGNC_ID
|
HGNC:18149
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SRGAP2
|
|
gptkbp:length
|
1071 amino acids
|
|
gptkbp:locatedOnChromosome
|
chromosome 1
|
|
gptkbp:mutationAssociatedWith
|
implicated in neurodevelopmental disorders
|
|
gptkbp:OMIM
|
606524
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
SRGAP2 (mouse)
|
|
gptkbp:relatedTo
|
brain development
human brain evolution
|
|
gptkbp:UniProtID
|
Q7Z333
|
|
gptkbp:bfsParent
|
gptkb:FOXP2
|
|
gptkbp:bfsLayer
|
7
|