View on GenomicsDBv4 beta site   

RALGPS2 - ENSG00000116191

Ral GEF with PH domain and SH3 binding motif 2

Also known as: KIAA0351, FLJ10244, FLJ25604

Location: chr1:178,694,300-178,889,238

Gene Type: protein coding

More information
NCBI Gene
55103
HUGO
HGNC:30279
Ensembl
ENSG00000116191
VEGA
OTTHUMG00000035076
UniProtKB
Q86X27

Genomic Context

The genome browser snapshot is fully interactive. Mouse over track elements for more information. Click and drag to move tracks. Click and drag on top positional guide to zoom to a sub-region.

To add tracks, use the provided link to switch to the full genome browser view.

Gene-based Trait Associations

Back to Top

ADSP WES: Alzheimer's Disease ADSP

Results from gene-level rare and functional variant aggregation tests for association to AD supported by significane of p < 0.5 / #genes.

Individual score test statistics for rare, predicted functional, and loss of function variants colocated with the gene were aggregated to compute gene level p-values.

See NIAGADS Accession NG00065 for more information.

Back to Top
Accession Population N SNPs p-value Sign. Level rho CMAF CMAC Covariates Variant Filter Caveats
NG00065 European 38 0.385 N/A 0 0.011 231.2 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 Caribbean Hispanic 4 0.422 N/A 0 0.013 10.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP MOD-HIGH N/A
NG00065 Meta 41 0.447 N/A 0 0.011 241.2 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP MOD-HIGH N/A
NG00065 Caribbean Hispanic 4 0.449 N/A 0 0.013 10.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A
NG00065 European 2 0.453 N/A 1 9.6e-05 2.0 PCs and sequencing center VEP HIGH
NG00065 European 2 0.453 N/A 0 9.6e-05 2.0 PCs and sequencing center LOF
NG00065 Caribbean Hispanic 4 0.490 N/A 0 0.013 10.0 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 Meta 41 0.552 N/A 0 0.011 241.2 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 European 38 0.588 N/A 1 0.011 231.2 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP MOD-HIGH N/A
NG00065 Meta 41 0.614 N/A 0 0.011 241.2 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A
NG00065 European 2 0.702 N/A 1 9.6e-05 2.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes LOF
NG00065 European 2 0.702 N/A 1 9.6e-05 2.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP HIGH
NG00065 European 2 0.704 N/A 1 9.6e-05 2.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP HIGH
NG00065 European 2 0.704 N/A 1 9.6e-05 2.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) LOF
NG00065 European 38 0.736 N/A 1 0.011 231.2 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A

Genetic Variation and Variant-based Trait Associations (GWAS)

Variants contained within the RALGPS2 gene.

Back to Top

The RALGPS2 gene contains 10,347 variants records (corresponding to 10,057 unique genomic positions).

The following variants, contained within ±100kb of RALGPS2, have been found to be associated with Alzheimer's disease in a GWAS study:

NIAGADS GWAS: Alzheimer's Disease

Variants contained within ±100kb of RALGPS2 that have genome-wide significance in a NIAGADS Alzheimer's Disease GWAS summary statistics dataset; supported by a p-value < 5 x 10-8. For exome array studies, a cutoff of p-value < 1 x 10-3 was used.

Click on accession numbers to view a detailed report about the dataset or to request access to the data.

NHGRI GWAS: Alzheimer's Disease

Variants contained within ±100kb of RALGPS2 that are associated with Alzheimer's disease in the NHGRI GWAS Catalog.

The following variants, contained within ±100kb of RALGPS2, have been associated with AD-relevant neuropathologies in a GWAS study:

NIAGADS GWAS: AD biomarkers and related neuropathologies

Variants contained within ±100kb of RALGPS2 that have genome-wide significance in a NIAGADS GWAS summary statistics dataset; supported by a p-value < 5 x 10-8. For exome array studies, a cutoff of p-value < 1 x 10-3 was used.

Click on accession numbers to view a detailed report about the dataset or to request access to the data.

NHGRI GWAS: Other Traits (incl. related neuropathologies and AD biomarkers)

Variants contained within ±100kb of RALGPS2 that are associated with a trait in the NHGRI GWAS Catalog.

Functional Genomics

Back to Top

Explore all functional genomics annotations within the region of the RALGPS2 gene (chr1:178694300-178889238)

Transcription Factor Binding Site Overlap in Gene Promoter Region (ENCODE ChIP-SEQ)

ChIP-Seq sites for transcription factor binding (from selected brain-relevant ENCODE tracks) within the promoter region of this gene. See methods for more information.

Functional Annotation

Gene Ontology

Functional annotations were obtained from UniProt-GOA gene association files.

Click on a term accession number to view term details at the Gene Ontology Consortium.

Back to Top
Ontology GO Accession Term Evidence Code
BP GO:0043547 positive regulation of GTPase activity IEA
BP GO:0032485 regulation of Ral protein signal transduction IEA
BP GO:0007264 small GTPase mediated signal transduction IEA
CC GO:0005737 cytoplasm IEA
CC GO:0005622 intracellular IEA
CC GO:0016020 membrane IEA
CC GO:0005886 plasma membrane IEA
MF GO:0005085 guanyl-nucleotide exchange factor activity IEA

KEGG Pathways

Click on a pathway accession number to view term details at KEGG.

Click on the number in the Find Similar column to get a list of genes annotated by the associated pathway.