PLEKHG2 - pleckstrin homology and RhoGEF domain containing G2 Gene

Also Known as CLG; LDAMD; ARHGEF42; CTB-60E11.4

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 64857

About PLEKHG2

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:39,406,847-39,428,415 (from NCBI)

This gene has 16 transcripts (splice variants), 87 orthologues, 22 paralogues and is associated with 1 phenotype. Ubiquitous expression in endometrium (RPKM 7.0), appendix (RPKM 6.7) and 25 other tissues.

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 in this gene have been associated with leukodystrophy and acquired microcephaly with or without dystonia. [provided by RefSeq, May 2017]

PLEKHG2 Products (3)

mRNA Protein Name
NM_001351693.2 NP_001338622.1 pleckstrin homology domain-containing family G member 2 isoform 2
NM_001351694.2 NP_001338623.1 pleckstrin homology domain-containing family G member 2 isoform 3
NM_022835.3 NP_073746.2 pleckstrin homology domain-containing family G member 2 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence 参考文献 由来
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in regulation of actin filament polymerization IMP
IMP: Inferred from mutant phenotype
26573021 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PLEKHG2 Protein Structure

RhoGEF

RhoGEF: RhoGEF domain (106 - 282)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1357 a.a.
Protein Preferred Names Protein Names

pleckstrin homology domain-containing family G member 2

  • PH domain-containing family G member 2

関連疾患

Diseases Alias
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia

  • LDAMD

  • Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Spondylocostal Dysostosis 1, Autosomal Recessive

  • Jarcho-Levin Syndrome

  • SCDO1

  • Vertebral Anomalies

  • Spondylothoracic Dysplasia

  • Costovertebral Dysplasia

  • Spondylothoracic Dysostosis

  • Spondylocostal Dysostosis 1

  • Autosomal Recessive Spondylocostal Dysostosis 1

  • Spondylocostal Dysostosis, Autosomal Recessive, 1

  • Doid:0112365

  • Dysostosis, Spondylocostal, Autosomal Recessive, Type 1
Dystonia

  • Dystonic Disease

  • Dystonic Disorder

  • Dystonia Disorders

  • Neuroleptic Dyskinesia
Microcephaly

  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly
Leukodystrophy

  • Leukodystrophies
Aarskog-Scott Syndrome

  • Aarskog Syndrome

  • Faciogenital Dysplasia

  • Faciodigitogenital Syndrome

  • AAS

  • Fgdy

  • X-Linked Aarskog Syndrome

  • Intellectual Developmental Disorder, X-Linked, Syndromic 16

  • Aarskog Syndrome, X-Linked

  • Intellectual Developmental Disorder, X-Linked Syndromic 16

  • Greig'S Syndrome

  • Aarskog Scott Syndrome

  • Aarskog Disease

  • Scott Aarskog Syndrome

  • Facio-Digito-Genital Dysplasia

  • Faciogenital Dysplasia With Attention Deficit-Hyperactivity Disorder

  • Aarskog-Scott Syndrome ) Syndrome
Dyschromatosis Universalis Hereditaria

  • Duh
Atrophic Rhinitis

  • Rhinitis, Atrophic

  • Ozena

  • Rhinitis Sicca

  • Dry Rhinitis

  • Ozaena
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS10690 PLEKHG2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 ID
Rattus norvegicus PLEKHG2 RGD RGD:1310112
Felis catus PLEKHG2 VGNC VGNC:64227
Canis familiaris PLEKHG2 VGNC VGNC:44677
Macaca mulatta PLEKHG2 VGNC VGNC:76133
Bos taurus PLEKHG2 VGNC VGNC:33015
Mus musculus PLEKHG2 MGD MGI:2141874
Others PLEKHG2 NCBI