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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]
RANBP2 (RAN Binding Protein 2) is a Protein Coding gene. Diseases associated with RANBP2 include Familial Acute Necrotizing Encephalopathy and Acute Necrotizing Encephalitis. Among its related pathways are Signaling by GPCR and mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include RNA binding and peptidyl-prolyl cis-trans isomerase activity. An important paralog of this gene is RGPD1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003723 | RNA binding | IEA | -- |
GO:0003755 | NOT peptidyl-prolyl cis-trans isomerase activity | IEA,IDA | 20676357 |
GO:0005096 | contributes_to GTPase activator activity | IBA | 21873635 |
GO:0005515 | protein binding | IEA,IPI | 10078529 |
GO:0016018 | NOT cyclosporin A binding | IDA | 20676357 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005635 | nuclear envelope | TAS | -- |
GO:0005642 | annulate lamellae | IDA | 20386726 |
GO:0005643 | nuclear pore | IBA,IDA | 17098863 |
GO:0005654 | nucleoplasm | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transport of the SLBP independent Mature mRNA |
.55
|
|
2 | HIV Life Cycle |
.91
.64
|
.45
|
3 | Cell Cycle, Mitotic |
.83
|
.60
|
4 | Mitotic Prophase |
.57
|
|
5 | Influenza Viral RNA Transcription and Replication |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000413 | protein peptidyl-prolyl isomerization | IEA | -- |
GO:0001975 | response to amphetamine | IEA | -- |
GO:0006110 | regulation of glycolytic process | TAS | -- |
GO:0006111 | regulation of gluconeogenesis | IEA | -- |
GO:0006406 | mRNA export from nucleus | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Guanosine triphosphate | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | · | 16c | ^ | 17 | ^ | 18a | · | 18b | ^ | 19 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RANBP2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RANBP2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ranbp2 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RANBP2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | RANBP2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | RANBP2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
ManyToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
African clawed frog (Xenopus laevis) |
Amphibia | Xl.7285 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.1708 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | Dr.29687 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Cyp1 32 |
|
|
|
CG5071 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | T22F3.12 31 |
|
ManyToMany | |
Y17G9B.4 31 |
|
ManyToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YRB1 33 |
|
|
|
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
835328 | Uncertain Significance: Encephalopathy, acute, infection-induced, 3, suceptibility to | 108,768,010(+) |
G/C NM_006267.5(RANBP2):c.7471G>C (p.Ala2491Pro) |
MISSENSE | |
837951 | Uncertain Significance: Encephalopathy, acute, infection-induced, 3, suceptibility to | 108,764,623(+) |
T/C NM_006267.5(RANBP2):c.4084T>C (p.Ser1362Pro) |
MISSENSE | |
838798 | Uncertain Significance: Encephalopathy, acute, infection-induced, 3, suceptibility to | 108,783,830(+) |
A/G NM_006267.5(RANBP2):c.9604A>G (p.Ile3202Val) |
MISSENSE | |
838867 | Uncertain Significance: Encephalopathy, acute, infection-induced, 3, suceptibility to | 108,748,989(+) |
A/G NM_006267.5(RANBP2):c.1133A>G (p.Asn378Ser) |
MISSENSE | |
840362 | Uncertain Significance: Encephalopathy, acute, infection-induced, 3, suceptibility to | 108,767,038(+) |
A/G NM_006267.5(RANBP2):c.6499A>G (p.Ile2167Val) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4036n100 | CNV | gain | 25217958 |
esv2720498 | CNV | deletion | 23290073 |
nsv1149522 | OTHER | inversion | 26484159 |
nsv961856 | CNV | duplication | 23825009 |
nsv963685 | CNV | duplication | 23825009 |
nsv963686 | CNV | duplication | 23825009 |
nsv963832 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
familial acute necrotizing encephalopathy |
|
|
acute necrotizing encephalitis |
|
|
acute necrotizing encephalopathy type 1 |
|
|
inflammatory myofibroblastic tumor |
|
|
encephalopathy, acute, infection-induced 4 |
|
|