Entity Details

Primary name PKHG2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9H7P9
EntryNamePKHG2_HUMAN
FullNamePleckstrin homology domain-containing family G member 2
TaxID9606
Evidenceevidence at protein level
Length1386
SequenceStatuscomplete
DateCreated2007-10-02
DateModified2021-06-02

Ontological Relatives

GenesPLEKHG2

GO terms

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GOName
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005829 cytosol
GO:0007186 G protein-coupled receptor signaling pathway
GO:0030833 regulation of actin filament polymerization
GO:0043065 positive regulation of apoptotic process
GO:0051056 regulation of small GTPase mediated signal transduction

Subcellular Location

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Domains

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DomainNameCategoryType
IPR000219 Dbl homology (DH) domainDomainDomain
IPR001849 Pleckstrin homology domainDomainDomain
IPR011993 PH-like domain superfamilyFamilyHomologous superfamily
IPR035899 Dbl homology (DH) domain superfamilyFamilyHomologous superfamily
IPR043324 PKHG1/2/3, pleckstrin homology (PH) domainDomainDomain

Diseases

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Disease IDSourceNameDescription
616763 OMIMLeukodystrophy and acquired microcephaly with or without dystonia (LDAMD)An autosomal recessive neurologic disorder characterized by profound mental retardation, dystonia, postnatal microcephaly, and white matter abnormalities consistent with leukodystrophy. The disease is caused by variants affecting the gene represented in this entry.