PLEKHG6 - pleckstrin homology and RhoGEF domain containing G6 Gene

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

PLEKHG6 Protein Structure

RhoGEF

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

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