1. Gene
  2. ARHGEF28 - Rho guanine nucleotide exchange factor 28 Gene

ARHGEF28 - Rho guanine nucleotide exchange factor 28 Gene

Homo sapiens

Also known as RIP2; RGNEF; p190RHOGEF

Gene ID: 64283 | Gene type: protein coding

About ARHGEF28

Cytogenetic location: 5q13.2 Genomic coordinates (GRCh38): 5:73,626,196-73,941,990 (from NCBI)

This gene has 14 transcripts (splice variants), 277 orthologues and 8 paralogues. Broad expression in kidney (RPKM 8.5), thyroid (RPKM 7.2) and 21 other tissues.

Summary

This gene encodes a member of the Rho guanine nucleotide exchange factor family. The encoded protein interacts with low molecular weight neurofilament mRNA and may be involved in the formation of amyotrophic lateral sclerosis neurofilament aggregates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]

ARHGEF28 Products(5)

mRNA Protein Name
NM_001080479.3 NP_001073948.2 rho guanine nucleotide exchange factor 28 isoform 1
NM_001177693.2 NP_001171164.1 rho guanine nucleotide exchange factor 28 isoform 2
NM_001244364.2 NP_001231293.1 rho guanine nucleotide exchange factor 28 isoform 3
NM_001388076.1 NP_001375005.1 rho guanine nucleotide exchange factor 28 isoform 4
NM_001388078.1 NP_001375007.1 rho guanine nucleotide exchange factor 28 isoform 5

ARHGEF28 Protein Structure

C1_1

C1_1: Phorbol esters/diacylglycerol binding domain (C1 domain) (653 - 699)

RhoGEF

RhoGEF: RhoGEF domain (853 - 1041)

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  • 1705 a.a.
Protein Preferred Names Protein Names

rho guanine nucleotide exchange factor 28

190 kDa guanine nucleotide exchange factor

Related Diseases

Diseases Alias
Cri-Du-Chat Syndrome

5p Deletion Syndrome

5p Partial Monosomy Syndrome

Monosomy 5p

Cat Cry Syndrome

Chromosome 5p Deletion Syndrome

Cri Du Chat Syndrome

5p- Syndrome

5p Minus Syndrome

Chromosome 5p- Syndrome

Chromosome 5 Short Arm Deletion Syndrome

Chromosome 5p Deletion

Deletion 5p

Cri Du Chat

5p Partial Deletion Syndrome

Partial Deletion Of Short Arm Of Chromosome 5 Syndrome

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 ARHGEF28 VGNC VGNC:38083
Felis catus ARHGEF28 VGNC VGNC:59905
Mus musculus ARHGEF28 MGD MGI:1346016
Bos taurus ARHGEF28 VGNC VGNC:26114
Macaca mulatta ARHGEF28 VGNC VGNC:84279
Rattus norvegicus ARHGEF28 RGD RGD:1307061