1. Gene
  2. ARHGEF7 - Rho guanine nucleotide exchange factor 7 Gene

ARHGEF7 - Rho guanine nucleotide exchange factor 7 Gene

Homo sapiens

Also known as P50; P85; PAK3; PIXB; COOL1; P50BP; COOL-1; P85SPR; BETA-PIX; P85COOL1; Nbla10314

Gene ID: 8874 | Gene type: protein coding

About ARHGEF7

Cytogenetic location: 13q34 Genomic coordinates (GRCh38): 13:111,114,619-111,305,734 (from NCBI)

This gene has 21 transcripts (splice variants), 350 orthologues and 22 paralogues. Ubiquitous expression in brain (RPKM 14.7), fat (RPKM 11.2) and 25 other tissues.

Summary

This gene encodes a protein that belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP binding protein Rac1 and recruits Rac1 to membrane ruffles and to focal adhesions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Mar 2016]

ARHGEF7 Products(27)

mRNA Protein Name
NM_001113511.2 NP_001106983.1 rho guanine nucleotide exchange factor 7 isoform c
NM_001113512.2 NP_001106984.1 rho guanine nucleotide exchange factor 7 isoform d
NM_001113513.2 NP_001106985.1 rho guanine nucleotide exchange factor 7 isoform a
NM_001320851.2 NP_001307780.1 rho guanine nucleotide exchange factor 7 isoform a
NM_001320852.1 NP_001307781.1 rho guanine nucleotide exchange factor 7 isoform e
NM_001320853.2 NP_001307782.1 rho guanine nucleotide exchange factor 7 isoform f
NM_001320854.2 NP_001307783.1 rho guanine nucleotide exchange factor 7 isoform g
NM_001330597.2 NP_001317526.1 rho guanine nucleotide exchange factor 7 isoform h
NM_001330598.2 NP_001317527.1 rho guanine nucleotide exchange factor 7 isoform h
NM_001354046.2 NP_001340975.1 rho guanine nucleotide exchange factor 7 isoform i
NM_001354047.1 NP_001340976.1 rho guanine nucleotide exchange factor 7 isoform j
NM_001354048.1 NP_001340977.1 rho guanine nucleotide exchange factor 7 isoform k
NM_001354049.2 NP_001340978.1 rho guanine nucleotide exchange factor 7 isoform k
NM_001354050.2 NP_001340979.1 rho guanine nucleotide exchange factor 7 isoform k
NM_001354051.2 NP_001340980.1 rho guanine nucleotide exchange factor 7 isoform k
NM_001354052.2 NP_001340981.1 rho guanine nucleotide exchange factor 7 isoform a
NM_001354053.2 NP_001340982.1 rho guanine nucleotide exchange factor 7 isoform a
NM_001354054.2 NP_001340983.1 rho guanine nucleotide exchange factor 7 isoform l
NM_001354055.2 NP_001340984.1 rho guanine nucleotide exchange factor 7 isoform m
NM_001354056.1 NP_001340985.1 rho guanine nucleotide exchange factor 7 isoform h
NM_001354057.2 NP_001340986.1 rho guanine nucleotide exchange factor 7 isoform h
NM_001354058.2 NP_001340987.1 rho guanine nucleotide exchange factor 7 isoform h
NM_001354059.2 NP_001340988.1 rho guanine nucleotide exchange factor 7 isoform h
NM_001354060.2 NP_001340989.1 rho guanine nucleotide exchange factor 7 isoform h
NM_001354061.2 NP_001340990.1 rho guanine nucleotide exchange factor 7 isoform n
NM_003899.5 NP_003890.1 rho guanine nucleotide exchange factor 7 isoform a
NM_145735.3 NP_663788.1 rho guanine nucleotide exchange factor 7 isoform b

ARHGEF7 Protein Structure

CH

CH: Calponin homology (CH) domain (18 - 87)

SH3_2

SH3_2: Variant SH3 domain (189 - 241)

RhoGEF

RhoGEF: RhoGEF domain (275 - 450)

PH

PH: PH domain (487 - 578)

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  • 600
  • 803 a.a.
Protein Preferred Names Protein Names

rho guanine nucleotide exchange factor 7

PAK-interacting exchange factor beta

Related Diseases

Diseases Alias
Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability

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
Bos taurus ARHGEF7 VGNC VGNC:26121
Macaca mulatta ARHGEF7 VGNC VGNC:69833
Mus musculus ARHGEF7 MGD MGI:1860493
Felis catus ARHGEF7 VGNC VGNC:59909
Canis familiaris ARHGEF7 VGNC VGNC:54920
Rattus norvegicus ARHGEF7 RGD RGD:620624