Gene: ARHGAP31
Alternate names for this Gene: AOS1|CDGAP
Gene Summary: This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth.
Gene is located in Chromosome: 3
Location in Chromosome : 3q13.32-q13.33
Description of this Gene: Rho GTPase activating protein 31
Type of Gene: protein-coding
rs1530687 in
ARHGAP31 gene and
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs1530687 in
ARHGAP31 gene and
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs1530687 in
ARHGAP31 gene and
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs1553768038 in
ARHGAP31 gene and
Adams-Oliver syndrome 1
PMID 29924900 2018 Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
rs11712165 in
ARHGAP31 gene and
Asthma
PMID 21150878 2011 Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia.
rs11712165 in
ARHGAP31 gene and
Autoimmune Diseases
PMID 21383967 2011 Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs75203710 in
ARHGAP31 gene and
Blood Protein Measurement
PMID 29875488 2018 Genomic atlas of the human plasma proteome.
rs11712165 in
ARHGAP31 gene and
Celiac Disease
PMID 20190752 2010 Multiple common variants for celiac disease influencing immune gene expression.
PMID 22057235 2011 Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease.
rs11712165 in
ARHGAP31 gene and
Immune System Diseases
PMID 21383967 2011 Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
rs13078855 in
ARHGAP31 gene and
Leukemia, Myelocytic, Acute
PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
rs11712165 in
ARHGAP31 gene and
Multiple Sclerosis
PMID 22190364 2011 Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
rs12494314 in
ARHGAP31 gene and
Primary biliary cirrhosis
PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
rs9884090 in
ARHGAP31 gene and
Systemic Scleroderma
PMID 31672989 2019 GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways.