PLEKHG6 - pleckstrin homology and RhoGEF domain containing G6 Gene

Also Known as MyoGEF

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55200

About PLEKHG6

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:6,310,332-6,328,506 (from NCBI)

This gene has 10 transcripts (splice variants), 160 orthologues and 8 paralogues. Biased expression in small intestine (RPKM 12.7), colon (RPKM 11.9) and 11 other tissues.

Summary

Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of small GTPase mediated signal transduction. Located in cell junction and centrosome. [provided by Alliance of Genome Resources, Apr 2022]

PLEKHG6 Products (10)

mRNA Protein Name
NM_001144856.2 NP_001138328.1 pleckstrin homology domain-containing family G member 6 isoform a
NM_001144857.2 NP_001138329.2 pleckstrin homology domain-containing family G member 6 isoform b
NM_001384598.1 NP_001371527.1 pleckstrin homology domain-containing family G member 6 isoform a
NM_001384599.1 NP_001371528.1 pleckstrin homology domain-containing family G member 6 isoform d
NM_001384600.1 NP_001371529.1 pleckstrin homology domain-containing family G member 6 isoform e
NM_001384601.1 NP_001371530.1 pleckstrin homology domain-containing family G member 6 isoform f
NM_001384602.1 NP_001371531.1 pleckstrin homology domain-containing family G member 6 isoform g
NM_001384603.1 NP_001371532.1 pleckstrin homology domain-containing family G member 6 isoform h
NM_001384604.1 NP_001371533.1 pleckstrin homology domain-containing family G member 6 isoform c
NM_018173.4 NP_060643.2 pleckstrin homology domain-containing family G member 6 isoform a

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
19129481 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

PLEKHG6 Protein Structure

RhoGEF

RhoGEF: RhoGEF domain (166 - 351)

  • 0
  • 200
  • 400
  • 600
  • 790 a.a.
Protein Preferred Names Protein Names

pleckstrin homology domain-containing family G member 6

  • PH domain-containing family G member 6

PLEKHG6 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PLEKHG6 Q3KR16 CEP55 Homo sapiens Q53EZ4
Validated Y2H
32296183
Intra
PLEKHG6 Q3KR16 CEP55 Homo sapiens Q53EZ4
Y2H Prey Pooling
32296183
Intra
PLEKHG6 Q3KR16 CEP55 Homo sapiens Q53EZ4
Y2H Array
31515488
Intra
PLEKHG6 Q3KR16 CEP55 Homo sapiens Q53EZ4
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Joubert Syndrome 21

  • JBTS21

  • Joubert Syndrome, Type 21
Periventricular Nodular Heterotopia

  • Periventricular Heterotopia

  • Pvnh

  • Familial Nodular Heterotopia

  • Heterotopia, Periventricular

  • Periventricular Heterotopia, X-Linked
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)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS10694 PLEKHG6 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus PLEKHG6 MGD MGI:2682298
Canis familiaris PLEKHG6 VGNC VGNC:44681
Rattus norvegicus PLEKHG6 RGD RGD:2318544
Bos taurus PLEKHG6 VGNC VGNC:33019
Felis catus PLEKHG6 VGNC VGNC:64232
Macaca mulatta PLEKHG6 VGNC VGNC:76110
Others PLEKHG6 NCBI