ARHGEF3 - Rho guanine nucleotide exchange factor 3 Gene

Homo sapiens

Also known as GEF3; STA3; XPLN

Gene ID: 50650 | Gene type: protein coding

About ARHGEF3

Cytogenetic location: 3p14.3 Genomic coordinates (GRCh38): 3:56,727,420-57,079,268 (from NCBI)

This gene has 15 transcripts (splice variants), 209 orthologues and 8 paralogues. Ubiquitous expression in endometrium (RPKM 17.9), adrenal (RPKM 16.7) and 24 other tissues.

Summary

Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleotide exchange factors (GEFs) accelerate the GTPase activity of Rho GTPases by catalyzing their release of bound GDP. This gene encodes a guanine nucleotide exchange factor, which specifically activates two members of the Rho GTPase family: RHOA and RHOB, both of which have a role in bone Cell Biology. It has been identified that genetic variation in this gene plays a role in the determination of bone mineral density (BMD), indicating the implication of this gene in postmenopausal osteoporosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ARHGEF3 Products(13)

mRNA	Protein	Name
NM_001128615.2	NP_001122087.1	rho guanine nucleotide exchange factor 3 isoform 1
NM_001128616.2	NP_001122088.1	rho guanine nucleotide exchange factor 3 isoform 2
NM_001289698.2	NP_001276627.1	rho guanine nucleotide exchange factor 3 isoform 4
NM_001377407.1	NP_001364336.1	rho guanine nucleotide exchange factor 3 isoform 1
NM_001377408.1	NP_001364337.1	rho guanine nucleotide exchange factor 3 isoform 5
NM_001377409.1	NP_001364338.1	rho guanine nucleotide exchange factor 3 isoform 5
NM_001377410.1	NP_001364339.1	rho guanine nucleotide exchange factor 3 isoform 5
NM_001377411.1	NP_001364340.1	rho guanine nucleotide exchange factor 3 isoform 6
NM_001377412.1	NP_001364341.1	rho guanine nucleotide exchange factor 3 isoform 6
NM_001377413.1	NP_001364342.1	rho guanine nucleotide exchange factor 3 isoform 7
NM_001377414.1	NP_001364343.1	rho guanine nucleotide exchange factor 3 isoform 8
NM_001377415.1	NP_001364344.1	rho guanine nucleotide exchange factor 3 isoform 9
NM_019555.3	NP_062455.1	rho guanine nucleotide exchange factor 3 isoform 3

ARHGEF3 Protein Structure

RhoGEF

0
100
200
300
400
526 a.a.

Protein Preferred Names

Protein Names

rho guanine nucleotide exchange factor 3

59.8 kDA protein

Related Diseases

Diseases

Alias

Methotrexate-Associated Lymphoproliferation

Osteoporosis

Postmenopausal Osteoporosis	Osteoporosis, Postmenopausal
Bone Mineral Density Quantitative Trait Locus	Bmnd
Osteoporosis, Involutional	Osteoporosis, Susceptibility To
Osteoporosis, Postmenopausal, Susceptibility	Bone Mineral Density Variation Qtl, Osteoporosis
OSTEOP	Involutional Osteoporosis
Senile Osteoporosis	Osteoporosis Postmenopausal
Bone Mineral Density, Quantitative Trait Locus	Osteoporosis, Senile
Idiopathic Osteoporosis	Bone Rarefaction Nos
Type 1 Osteoporosis

Hirschsprung Disease 1

Hirschsprung Disease	Aganglionic Megacolon
Hscr	Hirschsprung'S Disease
Congenital Megacolon	Congenital Intestinal Aganglionosis
Colonic Aganglionosis	Hirschsprung Disease, Susceptibility To, 1
Hirschsprung Disease, Protection Against	HSCR1
Mgc	Pelvirectal Achalasia
Total Intestinal Aganglionosis	Megacolon, Aganglionic
Macrocolon	Hscr 1
Hirschsprung Disease Type 1	Hirschsprung Disease, Type 1
Congenital Dilatation Of Colon	Aganglionosis
Congenital Aganglionic Megacolon	Aganglionosis Of Colon
Bowel Aganglionosis	Colon Aganglionosis
Hirschsprung Megacolon

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-RS00958	ARHGEF3 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ARHGEF3	VGNC	VGNC:38084
Rattus norvegicus	ARHGEF3	RGD	RGD:1310672
Macaca mulatta	ARHGEF3	VGNC	VGNC:70014
Bos taurus	ARHGEF3	VGNC	VGNC:26115
Felis catus	ARHGEF3	VGNC	VGNC:68147
Mus musculus	ARHGEF3	MGD	MGI:1918954

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