Species

Homo sapiens

Symbol

RANBP2

Name

RAN binding protein 2

Synonyms

358 kDa nucleoporin
acute necrotizing encephalopathy 1 (autosomal dominant)

Biotype

protein coding gene

Automated Description

Enables SUMO ligase activity and small GTPase binding activity. Involved in centrosome localization; nucleocytoplasmic transport; and protein sumoylation. Located in annulate lamellae; cytosol; and nucleus. Part of SUMO ligase complex; nuclear pore cytoplasmic filaments; and nuclear pore nuclear basket. Is active in nucleus. Implicated in brain disease and inflammatory myofibroblastic tumor. Biomarker of multiple myeloma.

RGD Description

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]

Cross References

Additional Information

Literature

Orthology

Gene tree: PANTHER:PTHR23138

Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse

Paralogy

Function - GO Annotations

Show functions with at least one experimental evidence

Pathways

No data available

Phenotypes

Primary Sources

RGD

Other Sources

BioGRID CRISPR Screen Cell Line Phenotypes

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Disease Associations

Include negative annotationsCases where the expected disease association was NOT found

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Alleles and Variants

Allele/Variant Symbol	Allele Synonyms	Category	Variant	Variant type	Molecular consequence	Has Disease Annotations	Has Phenotype Annotations
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Transgenic Alleles

Species (carrying the transgene)	Allele symbol	Transgenic construct	Expressed components	Knock-down targets	Regulatory regions	Has Disease Annotations	Has Phenotype Annotations
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Models

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Sequence Feature Viewer

Genome location

Chr2:108719482...109842301 + (1,122.82 kb)

Assembly version

GRCh38

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Data currently unavailable; sequence viewer under construction

Sequence Details

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Expression

Primary Sources

None

Other Sources

Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

RANBP2 molecule type	Interactor gene	Interactor species	Interactor molecule type	Detection method	Source	Reference
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Genetic Interactions

RANBP2 role	RANBP2 genetic perturbation	Interactor gene	Interactor species	Interactor role	Interactor genetic perturbation	Interaction type	Phenotype or trait	Source	Reference
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