1. Gene
  2. ARHGEF5 - Rho guanine nucleotide exchange factor 5 Gene

ARHGEF5 - Rho guanine nucleotide exchange factor 5 Gene

Homo sapiens

Also known as P60; TIM; GEF5; TIM1

Gene ID: 7984 | Gene type: protein coding

About ARHGEF5

Cytogenetic location: 7q35 Genomic coordinates (GRCh38): 7:144,355,402-144,380,632 (from NCBI)

This gene has 4 transcripts (splice variants), 1 gene allele, 198 orthologues and 6 paralogues. Broad expression in thyroid (RPKM 23.4), skin (RPKM 15.6) and 23 other tissues.

Summary

Rho GTPases play a fundamental role in numerous cellular processes initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein may be involved in the control of cytoskeletal organization. [provided by RefSeq, Jul 2008]

ARHGEF5 Products(1)

mRNA Protein Name
NM_005435.4 NP_005426.2 rho guanine nucleotide exchange factor 5

ARHGEF5 Protein Structure

ARHGEF5_35

ARHGEF5_35: Rho guanine nucleotide exchange factor 5/35 (1 - 478)

RhoGEF

RhoGEF: RhoGEF domain (1180 - 1356)

SH3_9

SH3_9: Variant SH3 domain (1520 - 1566)

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  • 1597 a.a.
Protein Preferred Names Protein Names

rho guanine nucleotide exchange factor 5

Rho guanine nucleotide exchange factor (GEF) 5

Related Diseases

Diseases Alias
Rippling Muscle Disease 2

Rippling Muscle Disease

Rmd

Lgmd1c

RMD2

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c

Muscular Dystrophy, Limb-Girdle, Type 1c

Muscular Dystrophy, Limb-Girdle, Type 1c, Formerly

Lgmd1c, Formerly

Limb-Girdle Muscular Dystrophy Type 1c

Limb-Girdle Muscular Dystrophy Due To Caveolin-3 Deficiency

Muscular Dystrophy, Limb-Girdle, Type Ic

Rippling Muscle Syndrome

Limb-Girdle Muscular Dystrophy 1c

Dystrophy, Muscular, Limb-Girdle, Type 1c

Disease, Muscle, Rippling, Type 2

Rippling Muscle Disease 1

Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

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
Canis familiaris ARHGEF5 VGNC VGNC:38090
Macaca mulatta ARHGEF5 VGNC VGNC:80793
Bos taurus ARHGEF5 VGNC VGNC:26119
Mus musculus ARHGEF5 MGD MGI:1858952
Rattus norvegicus ARHGEF5 RGD RGD:620718