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

rs17034806 in RANBP2 gene and Alzheimer's Disease PMID 20885792 2010 Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.

rs141332418 in RANBP2 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs9653456 in RANBP2 gene and Cleft upper lip PMID 29535761 2018 A Genome-Wide Search for Gene-Environment Effects in Isolated Cleft Lip with or without Cleft Palate Triads Points to an Interaction between Maternal Periconceptional Vitamin Use and Variants in ESRRG.

rs375099 in RANBP2 gene and Common Variable Immunodeficiency PMID 21497890 2011 Genome-wide association identifies diverse causes of common variable immunodeficiency.

rs1060499624 in RANBP2 gene and ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 PMID 19118815 2009 Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.

PMID 2759111 1989 Haemorheologic studies in patients with reduced coronary vasodilator capacity but normal coronary angiogram (syndrome X).

PMID 21945312 2012 Immunomodulatory therapy in recurrent acute necrotizing encephalopathy ANE1: is it useful?

PMID 19811512 2010 Recurrent acute necrotizing encephalopathy following influenza A in a genetically predisposed family.

PMID 25522933 2015 RANBP2 mutation and acute necrotizing encephalopathy: 2 cases and a literature review of the expanding clinico-radiological phenotype.

PMID 26923722 2016 Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation.

PMID 27591117 2016 RANBP2 mutation in an Indian child with recurrent acute necrotizing encephalopathy.

PMID 20473521 2010 Untreated recurrent acute necrotising encephalopathy associated with RANBP2 mutation, and normal outcome in a Caucasian boy.

PMID 25128471 2014 Familial acute necrotizing encephalopathy due to mutation in the RANBP2 gene.

PMID 21205700 2011 Dominant encephalopathy mimicking mitochondrial disease.

rs9330316 in RANBP2 gene and Schizophrenia PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.