ARHGEF12 - Rho guanine nucleotide exchange factor 12 Gene

Homo sapiens

Also known as LARG; PRO2792

Gene ID: 23365 | Gene type: protein coding

About ARHGEF12

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:120,336,413-120,489,937 (from NCBI)

This gene has 14 transcripts (splice variants), 277 orthologues, 8 paralogues and is associated with 91 phenotypes. Ubiquitous expression in kidney (RPKM 33.3), thyroid (RPKM 28.1) and 25 other tissues.

Summary

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

ARHGEF12 Products(3)

mRNA	Protein	Name
NM_001198665.2	NP_001185594.1	rho guanine nucleotide exchange factor 12 isoform 2
NM_001301084.2	NP_001288013.1	rho guanine nucleotide exchange factor 12 isoform 3
NM_015313.3	NP_056128.1	rho guanine nucleotide exchange factor 12 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables G protein-coupled receptor binding	IDA IDA: Inferred from direct assay	15755723	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11724822	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within G protein-coupled receptor signaling pathway	IDA IDA: Inferred from direct assay	15755723	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	15755723	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

ARHGEF12 Protein Structure

PDZ

RGS-like

RhoGEF

0
300
600
900
1200
1544 a.a.

Protein Preferred Names

Protein Names

rho guanine nucleotide exchange factor 12

KMT2A/ARHGEF12 fusion protein

ARHGEF12 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ARHGEF12	Q9NZN5	GIPC1	Homo sapiens	O14908	BioID	29467281
Intra	ARHGEF12	Q9NZN5	GIPC1	Homo sapiens	O14908	Y2H	29467281
Intra	ARHGEF12	Q9NZN5	GIPC1	Homo sapiens	O14908	Anti Tag CoIP	35271311
Intra	ARHGEF12	Q9NZN5	GIPC1	Homo sapiens	O14908	Anti Tag CoIP	29467281
Intra	ARHGEF12	Q9NZN5	RHOA	Homo sapiens	P61586	Anti Tag CoIP	20300064
Intra	ARHGEF12	Q9NZN5	RHOA	Homo sapiens	P61586	X-Ray Diffraction	15364580
Intra	ARHGEF12	Q9NZN5	IGF1R	Homo sapiens	P08069	Pull Down	11724822
Cross	ARHGEF12	Q9NZN5	Lpar1	Mus musculus	P61793	Pull Down	15755723
Cross	ARHGEF12	Q9NZN5	Lpar1	Mus musculus	P61793	Anti Tag CoIP	15755723

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Leukemia

Leukemias	Leukaemia, Unspecified, Without Mention Of Remission
Aleukemic Leukaemia	Chronic Leukaemia
Subacute Leukaemia	Leukaemia Disorder
Leukaemia Nos

Glaucoma, Normal Tension

Low Tension Glaucoma	Glaucoma, Normal Tension, Susceptibility To
Normal Tension Glaucoma	Ntg
Glaucoma, Normal Pressure	NPG
Glaucoma, Normal Pressure, Susceptibility To	Poag/Npg - [Normal Pressure Primary Open-Angle Glaucoma]

Glaucoma, Primary Open Angle

Glaucoma 1, Open Angle, E	Primary Open Angle Glaucoma
POAG	Adult-Onset Primary Open Angle Glaucoma
Chronic Simple Glaucoma	GLC1E
Primary Open Angle Glaucoma 1e	Glaucoma, Open Angle, Primary

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-RS00949	ARHGEF12 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ARHGEF12	VGNC	VGNC:38075
Mus musculus	ARHGEF12	MGD	MGI:1916882
Bos taurus	ARHGEF12	VGNC	VGNC:26106
Macaca mulatta	ARHGEF12	VGNC	VGNC:99547
Rattus norvegicus	ARHGEF12	RGD	RGD:1305111
Felis catus	ARHGEF12	VGNC	VGNC:59899

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