Stanford Home
Ovarian Kaleidoscope Database (OKdb)

Home

History

Transgenic Mouse Models

INFORGRAPHICS

Search
Submit
Update
Chroms
Browse
Admin

Hsueh lab

HPMR

Visits
since 01/2001:
176557

Rho guanine nucleotide exchange factor 7 OKDB#: 5486
 Symbols: ARHGEF7 Species: human
 Synonyms: P50, P85, PAK3, PIXB, COOL1, P50BP, COOL-1, P85SPR, BETA-PIX, P85COOL1, Nbla10314  Locus: 13q34 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
Mammalian Reproductive Genetics   Endometrium Database Resource   Orthologous Genes   UCSC Genome Browser   GEO Profiles new!   Amazonia (transcriptome data) new!

R-L INTERACTIONS   MGI

DNA Microarrays
SHOW DATA ...
link to BioGPS
General Comment NCBI 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]
General function Intracellular signaling cascade
Comment
Cellular localization Cytoplasmic
Comment
Ovarian function
Comment
Expression regulated by
Comment
Ovarian localization Oocyte
Comment
Follicle stages
Comment
Phenotypes
Mutations 1 mutations

Species: human
Mutation name:
type: naturally occurring
fertility: fertile
Comment: Loci at chromosomes 13, 19 and 20 influence age at natural menopause. Stolk L et al. (2010) We conducted a genome-wide association study for age at natural menopause in 2,979 European women and identified six SNPs in three loci associated with age at natural menopause: chromosome 19q13.4 (rs1172822; -0.4 year per T allele (39%); P = 6.3 × 10(-11)), chromosome 20p12.3 (rs236114; +0.5 year per A allele (21%); P = 9.7 × 10(-11)) and chromosome 13q34 (rs7333181; +0.5 year per A allele (12%); P = 2.5 × 10(-8)). These common genetic variants regulate timing of ovarian aging, an important risk factor for breast cancer, osteoporosis and cardiovascular disease.//////////////////ARHGEF7 has a role in cell proliferation through phosphorylation of FOXO3a. FOXO3a knockout mice are infertile due to early depletion of the follicle pool, indicating a possible role of this gene in menopause

Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
OMIM \ Animal Model
KEGG Pathways
Recent Publications
None
Search for Antibody


created: Aug. 10, 2017, 11:04 a.m. by: system   email:
home page:
last update: Aug. 10, 2017, 11:05 a.m. by: hsueh    email:



Use the back button of your browser to return to the Gene List.

Click here to return to gene search form