Gene: SH3RF3

Alternate names for this Gene: POSH2|SH3MD4

Gene Summary:

Gene is located in Chromosome: 2

Location in Chromosome : 2q13

Description of this Gene: SH3 domain containing ring finger 3

Type of Gene: protein-coding

Gene: RANBP2

Alternate names for this Gene: ADANE|ANE1|IIAE3|NUP358|TRP1|TRP2

Gene Summary: RAN is a small GTP-binding protein of the RAS superfamily that is associated with the nuclear membrane and is thought to control a variety of cellular functions through its interactions with other proteins. This gene encodes a very large RAN-binding protein that immunolocalizes to the nuclear pore complex. The protein is a giant scaffold and mosaic cyclophilin-related nucleoporin implicated in the Ran-GTPase cycle. The encoded protein directly interacts with the E2 enzyme UBC9 and strongly enhances SUMO1 transfer from UBC9 to the SUMO1 target SP100. These findings place sumoylation at the cytoplasmic filaments of the nuclear pore complex and suggest that, for some substrates, modification and nuclear import are linked events. This gene is partially duplicated in a gene cluster that lies in a hot spot for recombination on chromosome 2q.

Gene is located in Chromosome: 2

Location in Chromosome : 2q13

Description of this Gene: RAN binding protein 2

Type of Gene: protein-coding

rs6542826 in SH3RF3;RANBP2 gene and ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO PMID 28447399 2017 Genome-wide association study of HIV-associated neurocognitive disorder (HAND): A CHARTER group study.

rs6542826 in SH3RF3;RANBP2 gene and AIDS, PROGRESSION TO PMID 28447399 2017 Genome-wide association study of HIV-associated neurocognitive disorder (HAND): A CHARTER group study.

rs55946490 in SH3RF3;RANBP2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs6542826 in SH3RF3;RANBP2 gene and HIV-1 infection PMID 28447399 2017 Genome-wide association study of HIV-associated neurocognitive disorder (HAND): A CHARTER group study.

rs6542826 in SH3RF3;RANBP2 gene and HIV-1, RESISTANCE TO PMID 28447399 2017 Genome-wide association study of HIV-associated neurocognitive disorder (HAND): A CHARTER group study.

rs6542826 in SH3RF3;RANBP2 gene and HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO PMID 28447399 2017 Genome-wide association study of HIV-associated neurocognitive disorder (HAND): A CHARTER group study.

rs4676076 in SH3RF3;RANBP2 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs10165947 in SH3RF3;RANBP2 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.