Gene: RABEP1
Alternate names for this Gene: RAB5EP|RABPT5
Gene Summary:
Gene is located in Chromosome: 17
Location in Chromosome : 17p13.2
Description of this Gene: rabaptin, RAB GTPase binding effector protein 1
Type of Gene: protein-coding
Gene: NUP88
Alternate names for this Gene: FADS4
Gene Summary: The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. Alternative splicing results in multiple transcript variants encoding different isoforms.
Gene is located in Chromosome: 17
Location in Chromosome : 17p13.2
Description of this Gene: nucleoporin 88
Type of Gene: protein-coding
rs1000940 in
RABEP1;NUP88 gene and
Body mass index
PMID 25673413 2015 Genetic studies of body mass index yield new insights for obesity biology.
PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
PMID 26426971 2015 The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
PMID 30108127 2018 A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.
PMID 28892062 2017 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.
rs1065483 in
RABEP1;NUP88 gene and
Lymphocyte Count measurement
PMID 22286170 2012 The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.