2. Gene
  3. PLEKHG6 - pleckstrin homology and RhoGEF domain containing G6 Gene

PLEKHG6 - pleckstrin homology and RhoGEF domain containing G6 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as MyoGEF

Gene ID: 55200 | Gene type: protein coding

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 Reference 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

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS10694 PLEKHG6 Human Pre-designed siRNA Set A Pre-designed Sets / 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