1. Gene
  2. PLEKHG3 - pleckstrin homology and RhoGEF domain containing G3 Gene

PLEKHG3 - pleckstrin homology and RhoGEF domain containing G3 Gene

Homo sapiens

Also known as ARHGEF43; KIAA0599

Gene ID: 26030 | Gene type: protein coding

About PLEKHG3

Cytogenetic location: 14q23.3 Genomic coordinates (GRCh38): 14:64,704,424-64,750,249 (from NCBI)

This gene has 10 transcripts (splice variants) and 193 orthologues. Ubiquitous expression in endometrium (RPKM 8.9), kidney (RPKM 8.6) and 25 other tissues.

Summary

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

PLEKHG3 Products(1)

mRNA Protein Name
NM_001308147.2 NP_001295076.1 pleckstrin homology domain-containing family G member 3

PLEKHG3 Protein Structure

RhoGEF

RhoGEF: RhoGEF domain (97 - 271)

PH

PH: PH domain (315 - 393)

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  • 1219 a.a.
Protein Preferred Names Protein Names

pleckstrin homology domain-containing family G member 3

PH domain-containing family G member 3

Related Diseases

Diseases Alias
Blepharocheilodontic Syndrome 1

Blepharocheilodontic Syndrome

Bcd Syndrome

Elschnig Syndrome

Clefting, Ectropion, And Conical Teeth

Lagophthalmia With Bilateral Cleft Lip And Palate

Blepharo-Cheilo-Odontic Syndrome

Bcds

Ectropion, Inferior, With Cleft Lip And/Or Palate

Blepharo-Cheilo-Dontic Syndrome

BCDS1

Ectropion Inferior Cleft Lip And Or Palate

Clefting-Ectropion-Conical Teeth Syndrome

Ectropion Inferior-Cleft Lip And/Or Palate Syndrome

Lagophthalmia-Cleft Lip And Palate Syndrome

Blepharocheilodontic Syndrome, Type 1

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

Orthologs Information

Species Symbol Source ID
Bos taurus PLEKHG3 VGNC VGNC:33016
Macaca mulatta PLEKHG3 VGNC VGNC:76082
Rattus norvegicus PLEKHG3 RGD RGD:1308089
Felis catus PLEKHG3 VGNC VGNC:64228
Canis familiaris PLEKHG3 VGNC VGNC:44678
Mus musculus PLEKHG3 MGD MGI:2388284