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Gene : PLEKHG2 Homo sapiens

Name  ? pleckstrin homology and RhoGEF domain containing G2 Cytological Location  19q13.2
Brief Description  pleckstrin homology and RhoGEF domain containing G2
description  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 in this gene have been associated with leukodystrophy and acquired microcephaly with or without dystonia. [provided by RefSeq, May 2017]
  • synonyms:
  • pleckstrin homology domain containing, family G (with RhoGef domain) member 2,
  • CLG,
  • ARHGEF42,
  • HGNC:29515,
  • LDAMD,
  • PLEKHG2,
  • AK024429,
  • NM_022835,
  • FLJ00018,
  • CLG,
  • uc010xuz.3,
  • OTTHUMG00000152570,
  • CTB-60E11.4,
  • ARHGEF42
  • identifiers:
  • 64857,
  • ENSG00000090924,
  • PLEKHG2

Genome feature

Region: gene ? Length: 15834  
Location: 19:39412582-39428415 Cyto location: 19q13.2


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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Other

208 SN Ps

5 Cross References

17 Data Sets

7 Homologues

0 Located Features

90 Rna Seq Results