1. Gene
  2. ARHGEF40 - Rho guanine nucleotide exchange factor 40 Gene

ARHGEF40 - Rho guanine nucleotide exchange factor 40 Gene

Homo sapiens

Also known as SOLO

Gene ID: 55701 | Gene type: protein coding

About ARHGEF40

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:21,061,264-21,090,248 (from NCBI)

This gene has 8 transcripts (splice variants), 107 orthologues and 22 paralogues. Ubiquitous expression in spleen (RPKM 21.4), adrenal (RPKM 17.9) and 25 other tissues.

Summary

This gene encodes a protein similar to guanosine nucleotide exchange factors for Rho GTPases. The encoded protein contains in its C-terminus a GEF domain involved in exchange activity and a pleckstrin homology domain. Alternatively spliced transcripts that encode different proteins have been described. [provided by RefSeq, Mar 2014]

ARHGEF40 Products(3)

mRNA Protein Name
NM_001278529.2 NP_001265458.1 rho guanine nucleotide exchange factor 40 isoform 2
NM_001278530.2 NP_001265459.1 rho guanine nucleotide exchange factor 40 isoform 3
NM_018071.5 NP_060541.3 rho guanine nucleotide exchange factor 40 isoform 1

ARHGEF40 Protein Structure

RhoGEF

RhoGEF: RhoGEF domain (1090 - 1243)

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  • 1200
  • 1519 a.a.
Protein Preferred Names Protein Names

rho guanine nucleotide exchange factor 40

Rho guanine nucleotide exchange factor (GEF) 40

Related Diseases

Diseases Alias
Usher Syndrome, Type Id

Usher Syndrome Type 1d

USH1D

Usher Syndrome, Type 1d

Usher Syndrome Type Id

Usher Syndrome, Type Id/F, Digenic

Usher Syndrome, Type 1d/F Digenic

Usher Syndrome 1d

Usher'S Syndrome Type 1d

Usher Syndrome 1d/F

USH1DF

Ush1d/F

Usher'S Syndrome Type 1h

Usher Syndrome 1h

Usher Syndrome Type Ih

Usher Syndrome, Type 1d/F

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 ARHGEF40 VGNC VGNC:38089
Bos taurus ARHGEF40 VGNC VGNC:26118
Felis catus ARHGEF40 VGNC VGNC:59908
Mus musculus ARHGEF40 MGD MGI:2685515
Rattus norvegicus ARHGEF40 RGD RGD:1308093
Macaca mulatta ARHGEF40 VGNC VGNC:69907