Gene Gene information from NCBI Gene database.
Entrez ID 64857
Gene name Pleckstrin homology and RhoGEF domain containing G2
Gene symbol PLEKHG2
Synonyms (NCBI Gene)
ARHGEF42CLGCTB-60E11.4LDAMD
Chromosome 19
Chromosome location 19q13.2
Summary The protein encoded by this gene is a RhoGTPase that can activate CDC42 by promoting exchange of GDP for GTP on CDC42. The encoded protein is activated by binding to the beta and gamma subunits of heterotrimeric guanine nucleotide-binding protein. Defects
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs201201843 C>T Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs370673772 G>A Likely-pathogenic, uncertain-significance Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs571854709 C>- Conflicting-interpretations-of-pathogenicity Intron variant
miRNA miRNA information provided by mirtarbase database.
574
miRTarBase ID miRNA Experiments Reference
MIRT002749 hsa-miR-1-3p Microarray 15685193
MIRT026245 hsa-miR-192-5p Microarray 19074876
MIRT048117 hsa-miR-197-3p CLASH 23622248
MIRT042993 hsa-miR-324-3p CLASH 23622248
MIRT037583 hsa-miR-744-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005829 Component Cytosol IEA
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611893 29515 ENSG00000090924
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H7P9
Protein name Pleckstrin homology domain-containing family G member 2 (PH domain-containing family G member 2)
Protein function May be a transforming oncogene with exchange activity for CDC42 (By similarity). May be a guanine-nucleotide exchange factor (GEF) for RAC1 and CDC42. Activated by the binding to subunits beta and gamma of the heterotrimeric guanine nucleotide-b
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00621 RhoGEF 106 281 RhoGEF domain Domain
PF00169 PH 315 410 PH domain Domain
Sequence
MPEGAQGLSLSKPSPSLGCGRRGEVCDCGTVCETRTAPAAPTMASPRGSGSSTSLSTVGS
EGDPAPGPTPACSASRPEPLPGPPIRLHLSPVGIPGSARPSRLERVAREIVETERAYVRD
LRSIVEDYLGPLLDGGVLGLSVEQVGTLFANIEDIYEFSSELLEDLENSSSAGGIAECFV
QRSEDFDIYTLYCMNYPSSLALLRELSLSPPAALWLQERQAQLRHSLPLQSFLLKPVQRI
LKYHLLLQELGKHWAEGPGTGGREMVEEAIVSMTAVAWYIN
DMKRKQEHAARLQEVQRRL
GGWTGPELSAFGELVLEGAFRGGGGGGPRLRGGERLLFLFSRMLLVAKRRGLEYTYKGHI
FCCNLSVSESPRDPLGFKVSDLTIPKHRHLLQAKNQEEKRLWIHCLQRLF
FENHPASIPA
KAKQVLLENSLHCAPKSKPVLEPLTPPLGSPRPRDARSFTPGRRNTAPSPGPSVIRRGRR
QSEPVKDPYVMFPQNAKPGFKHAGSEGELYPPESQPPVSGSAPPEDLEDAGPPTLDPSGT
SITEEILELLNQRGLRDPGPSTHDIPKFPGDSQVPGDSETLTFQALPSRDSSEEEEEEEE
GLEMDERGPSPLHVLEGLESSIAAEMPSIPCLTKIPDVPNLPEIPSRCEIPEGSRLPSLS
DISDVFEMPCLPAIPSVPNTPSLSSTPTLSCDSWLQGPLQEPAEAPATRRELFSGSNPGK
LGEPPSGGKAGPEEDEEGVSFTDFQPQDVTQHQGFPDELAFRSCSEIRSAWQALEQGQLA
RPGFPEPLLILEDSDLGGDSGSGKAGAPSSERTASRVRELARLYSERIQQMQRAETRASA
NAPRRRPRVLAQPQPSPCLPQEQAEPGLLPAFGHVLVCELAFPLTCAQESVPLGPAVWVQ
AAIPLSKQGGSPDGQGLHVSNLPKQDLPGIHVSAATLLPEQGGSRHVQAPAATPLPKQEG
PLHLQVPALTTFSDQGHPEIQVPATTPLPEHRSHMVIPAPSTAFCPEQGHCADIHVPTTP
ALPKEICSDFTVSVTTPVPKQEGHLDSESPTNIPLTKQGGSRDVQGPDPVCSQPIQPLSW
HGSSLDPQGPGDTLPPLPCHLPDLQIPGTSPLPAHGSHLDHRIPANAPLSLSQELPDTQV
PATTPLPLPQVLTDIWVQALPTSPKQGSLPDIQGPAAAPPLPEPSLTDTQVQKLTPSLEQ
KSLIDAHVPAATPLPERGGSLDIQGLSPTPVQTTMVLSKPGGSLASHVARLESSDLTPPH
SPPPSSRQLLGPNAAALSRYLAASYISQSLARRQGPGGGAPAASRGSWSSAPTSRASSPP
PQPQPPPPPARRLSYATTVNIHVGGGGRLRPAKAQVRLNHPALLASTQESMGLHRAQGAP
DAPFHM
Sequence length 1386
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    NRAGE signals death through JNK
Rho GTPase cycle
G alpha (12/13) signalling events
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Leukodystrophy and acquired microcephaly with or without dystonia; Likely pathogenic rs2514447074 RCV003340871
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Abnormal brain morphology Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Abnormality of neuronal migration Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 26050650
★☆☆☆☆
Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia Lymphoblastic Leukemia BEFREE 28751566
★☆☆☆☆
Found in Text Mining only
Global developmental delay Developmental Delay HPO_DG
★☆☆☆☆
Found in Text Mining only
Leukemia Leukemia Pubtator 24001768 Associate
★☆☆☆☆
Found in Text Mining only
Leukodystrophy Leukodystrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA Leukodystrophy And Acquired Microcephaly With Or Without Dystonia GENOMICS_ENGLAND_DG 26573021
★☆☆☆☆
Found in Text Mining only
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA Leukodystrophy And Acquired Microcephaly With Or Without Dystonia UNIPROT_DG 26573021
★☆☆☆☆
Found in Text Mining only
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA Leukodystrophy And Acquired Microcephaly With Or Without Dystonia CTD_human_DG
★☆☆☆☆
Found in Text Mining only
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA Leukodystrophy And Acquired Microcephaly With Or Without Dystonia CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung Neoplasms BEFREE 24727000
★☆☆☆☆
Found in Text Mining only