RANBP2 Chromosome 2
RAN binding protein 2
Upload your DNA to see your personal genotypes for variants in RANBP2.
What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Zinc fingers RANBP2-type|Tetratricopeptide repeat domain containing|Cyclophilin peptidylprolyl isomerases|Nucleoporins"
Locus Type
gene with protein product
Location
2q13
Ensembl
ENSG00000153201
Associated Conditions (7)
Familial acute necrotizing encephalopathy
Malignant tumor of esophagus
Malignant lymphoma
large B-cell
diffuse
Cholangiocarcinoma
See cases
Key Variants
RS112835359
Conflicting classifications of pathogenicity
Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
Health Risk
RS121434504
Conflicting classifications of pathogenicity
Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
Health Risk
RS137976808
Conflicting classifications of pathogenicity
Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
Health Risk
RS138022657
Conflicting classifications of pathogenicity
Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
Health Risk
RS138540027
Conflicting classifications of pathogenicity
Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
Health Risk
RS142231499
Conflicting classifications of pathogenicity
Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
Health Risk
RS142768885
Conflicting classifications of pathogenicity
Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
Health Risk
RS143137111
Conflicting classifications of pathogenicity
Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
Health Risk
RS144573168
Conflicting classifications of pathogenicity
Familial acute necrotizing encephalopathy, Malignant tumor of esophagus, Familial acute necrotizing encephalopathy
Health Risk
RS146851340
Conflicting classifications of pathogenicity
Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
Health Risk
RS147542198
Conflicting classifications of pathogenicity
Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
Health Risk
RS148298842
Conflicting classifications of pathogenicity
Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
Health Risk
All Variants (43)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112835359 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS121434504 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS137976808 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS138022657 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS138540027 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS142231499 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS142768885 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS143137111 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS144573168 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Malignant tumor of esophagus, Familial acute necrotizing encephalopathy |
| RS146851340 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS147542198 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS148298842 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS148596328 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS149692552 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS150151795 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS150721983 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS151064332 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS189289937 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS200750445 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS201087513 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS201476147 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS2693122 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS2912840 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS368547122 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS372328602 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372722891 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS374902910 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS375852855 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS746894026 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Malignant lymphoma, large B-cell |
| RS751118849 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS751375908 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS755789696 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS756874724 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS757718519 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS773879572 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS775798185 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS969517784 | Health Risk | Conflicting classifications of pathogenicity | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS1060499624 | Health Risk | Likely pathogenic | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS1131691596 | Health Risk | Likely pathogenic | — |
| RS1235771247 | Health Risk | Likely pathogenic | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS2467529750 | Health Risk | Likely pathogenic | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |
| RS121434502 | Health Risk | Pathogenic/Likely pathogenic | Familial acute necrotizing encephalopathy, See cases, Familial acute necrotizing encephalopathy |
| RS121434503 | Health Risk | risk factor | Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy |