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Aliases for RANBP2 Gene

Aliases for RANBP2 Gene

  • RAN Binding Protein 2 2 3 5
  • Acute Necrotizing Encephalopathy 1 (Autosomal Dominant) 2 3
  • Nuclear Pore Complex Protein Nup358 3 4
  • Ran-Binding Protein 2 3 4
  • 358 KDa Nucleoporin 3 4
  • Nucleoporin Nup358 3 4
  • NUP358 3 4
  • P270 3 4
  • Transformation-Related Protein 2 3
  • E3 SUMO-Protein Ligase RanBP2 3
  • Nucleoporin 358 3
  • EC 5.2.1.8 61
  • EC 6.3.2.- 4
  • RanBP2 4
  • ADANE 3
  • IIAE3 3
  • TRP2 3
  • TRP1 3
  • ANE1 3

External Ids for RANBP2 Gene

Previous HGNC Symbols for RANBP2 Gene

  • ANE1

Previous GeneCards Identifiers for RANBP2 Gene

  • GC02P107241
  • GC02P107814
  • GC02P108911
  • GC02P108957
  • GC02P108794
  • GC02P108702
  • GC02P109335
  • GC02P102934

Summaries for RANBP2 Gene

Entrez Gene Summary for RANBP2 Gene

  • 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]

GeneCards Summary for RANBP2 Gene

RANBP2 (RAN Binding Protein 2) is a Protein Coding gene. Diseases associated with RANBP2 include Inflammatory Myofibroblastic Tumor and Infection-Induced Acute Encephalopathy 3, Susceptibility. Among its related pathways are Interferon gamma signaling and Transport of the SLBP independent Mature mRNA. GO annotations related to this gene include RNA binding and peptidyl-prolyl cis-trans isomerase activity. An important paralog of this gene is RGPD8.

UniProtKB/Swiss-Prot for RANBP2 Gene

  • E3 SUMO-protein ligase which facilitates SUMO1 and SUMO2 conjugation by UBE2I. Involved in transport factor (Ran-GTP, karyopherin)-mediated protein import via the F-G repeat-containing domain which acts as a docking site for substrates. Binds single-stranded RNA (in vitro). May bind DNA. Component of the nuclear export pathway. Specific docking site for the nuclear export factor exportin-1. Sumoylates PML at Lys-490 which is essential for the proper assembly of PML-NB.

Gene Wiki entry for RANBP2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RANBP2 Gene

Genomics for RANBP2 Gene

Regulatory Elements for RANBP2 Gene

Enhancers for RANBP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F108718 1.1 ENCODE 5.6 +0.1 74 1.9 HDGF PKNOX1 ARNT CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 RPL37P12 GCC2 RANBP2 CCDC138
GH02F109030 1 FANTOM5 Ensembl ENCODE 5.3 +312.6 312575 3.3 PKNOX1 CBX3 FEZF1 ZNF2 GLIS2 ZNF366 SCRT2 ZNF207 FOS EGR2 RANBP2 LIMS1 LOC105373543 PIR45653
GH02F108611 1.3 FANTOM5 Ensembl ENCODE 4.3 -101.6 -101638 13.3 HDGF PKNOX1 WRNIP1 SIN3A FEZF1 ZNF2 CBX5 ZNF143 ZNF207 FOS GCC2 LIMS1 SULT1C4 LIMS1-AS1 RANBP2 PIR40245
GH02F108583 1.1 FANTOM5 ENCODE 4.2 -129.0 -129014 13.7 PKNOX1 ARNT WRNIP1 SIN3A CBX5 ZNF143 FOS JUNB REST TBX21 GCC2 LIMS1 RANBP2 PIR40245
GH02F109208 1.5 FANTOM5 Ensembl ENCODE 3 +494.3 494322 10.9 HDGF PKNOX1 WRNIP1 FEZF1 ZNF2 YY1 ZNF207 FOS ZNF263 SP3 BMS1P19 ENSG00000230603 RPL10P5 SH3RF3 SH3RF3-AS1 GCC2 RANBP2 PIR32448 GC02P109192
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around RANBP2 on UCSC Golden Path with GeneCards custom track

Promoters for RANBP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000596138 654 2601 HDGF PKNOX1 ARNT CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1

Genomic Location for RANBP2 Gene

Chromosome:
2
Start:
108,719,446 bp from pter
End:
108,785,811 bp from pter
Size:
66,366 bases
Orientation:
Plus strand

Genomic View for RANBP2 Gene

Genes around RANBP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RANBP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RANBP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RANBP2 Gene

Proteins for RANBP2 Gene

  • Protein details for RANBP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49792-RBP2_HUMAN
    Recommended name:
    E3 SUMO-protein ligase RanBP2
    Protein Accession:
    P49792
    Secondary Accessions:
    • Q13074
    • Q15280
    • Q53TE2
    • Q59FH7

    Protein attributes for RANBP2 Gene

    Size:
    3224 amino acids
    Molecular mass:
    358199 Da
    Quaternary structure:
    • Forms a tight complex with RANBP1 and UBE2I. Interacts with SUMO1 but not SUMO2. Interacts with PARK2. Interacts with sumoylated RANGAP1. Interacts with CDCA8. Interacts with PML (isoform PML-4).

    Three dimensional structures from OCA and Proteopedia for RANBP2 Gene

neXtProt entry for RANBP2 Gene

Selected DME Specific Peptides for RANBP2 Gene

Post-translational modifications for RANBP2 Gene

  • Polyubiquitinated by PARK2, which leads to proteasomal degradation.
  • The the inner channel of the NPC has a different redox environment from the cytoplasm and allows the formation of interchain disulfide bonds between some nucleoporins, the significant increase of these linkages upon oxidative stress reduces the permeability of the NPC.
  • Ubiquitination at Lys 2125, Lys 2396, Lys 2522, and Lys 2959
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for RANBP2

Domains & Families for RANBP2 Gene

Suggested Antigen Peptide Sequences for RANBP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P49792

UniProtKB/Swiss-Prot:

RBP2_HUMAN :
  • Contains a dozen F-X-F-G repeats in the C-terminal half.
  • Contains 8 RanBP2-type zinc fingers.
Domain:
  • Contains a dozen F-X-F-G repeats in the C-terminal half.
  • The PPIase cyclophilin-type domain has high structural similarity with PPIA, but has extremely low and barely detectable proline isomerase activity (in vitro) (PubMed:23353830). Only about half of the residues that surround the PPIA active site cleft are conserved.
  • Contains 1 PPIase cyclophilin-type domain.
  • Contains 4 RanBD1 domains.
Similarity:
  • Contains 8 RanBP2-type zinc fingers.
  • Contains 7 TPR repeats.
genes like me logo Genes that share domains with RANBP2: view

Function for RANBP2 Gene

Molecular function for RANBP2 Gene

GENATLAS Biochemistry:
Ran (Ras-related small nuclear protein)component of the nuclear pore complex (NPC),involved in cell-cycle progression,nucleocytoplasmic transport,pre-mRNA processing
UniProtKB/Swiss-Prot Function:
E3 SUMO-protein ligase which facilitates SUMO1 and SUMO2 conjugation by UBE2I. Involved in transport factor (Ran-GTP, karyopherin)-mediated protein import via the F-G repeat-containing domain which acts as a docking site for substrates. Binds single-stranded RNA (in vitro). May bind DNA. Component of the nuclear export pathway. Specific docking site for the nuclear export factor exportin-1. Sumoylates PML at Lys-490 which is essential for the proper assembly of PML-NB.

Enzyme Numbers (IUBMB) for RANBP2 Gene

Gene Ontology (GO) - Molecular Function for RANBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0003755 peptidyl-prolyl cis-trans isomerase activity IEA --
GO:0005515 protein binding IPI 16314522
GO:0008270 zinc ion binding IEA --
GO:0008536 Ran GTPase binding IPI 7603572
genes like me logo Genes that share ontologies with RANBP2: view
genes like me logo Genes that share phenotypes with RANBP2: view

Human Phenotype Ontology for RANBP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for RANBP2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for RANBP2 Gene

Localization for RANBP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RANBP2 Gene

Nucleus. Nucleus membrane. Nucleus, nuclear pore complex. Note=Detected in diffuse and discrete intranuclear foci (PubMed:11839768). Cytoplasmic filaments (PubMed:7775481). {ECO:0000269 PubMed:11839768, ECO:0000269 PubMed:7775481}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RANBP2 Gene COMPARTMENTS Subcellular localization image for RANBP2 gene
Compartment Confidence
cytosol 5
nucleus 5
cytoskeleton 2
mitochondrion 2
golgi apparatus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for RANBP2 Gene

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 IEA,IDA 17098863
GO:0005739 mitochondrion IEA,IBA --
genes like me logo Genes that share ontologies with RANBP2: view

Pathways & Interactions for RANBP2 Gene

SuperPathways for RANBP2 Gene

SuperPathway Contained pathways
1 Transport of the SLBP independent Mature mRNA
2 HIV Life Cycle
.45
3 Cell Cycle, Mitotic
.60
4 Mitotic Prophase
5 Influenza Viral RNA Transcription and Replication
genes like me logo Genes that share pathways with RANBP2: view

UniProtKB/Swiss-Prot P49792-RBP2_HUMAN

  • Pathway: Protein modification; protein sumoylation.

Gene Ontology (GO) - Biological Process for RANBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000413 protein peptidyl-prolyl isomerization IEA --
GO:0001975 response to amphetamine IEA --
GO:0006406 mRNA export from nucleus TAS --
GO:0006409 tRNA export from nucleus TAS --
GO:0006457 protein folding IEA --
genes like me logo Genes that share ontologies with RANBP2: view

No data available for SIGNOR curated interactions for RANBP2 Gene

Drugs & Compounds for RANBP2 Gene

(2) Drugs for RANBP2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(3) Additional Compounds for RANBP2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RANBP2: view

Transcripts for RANBP2 Gene

Unigene Clusters for RANBP2 Gene

RAN binding protein 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RANBP2 Gene

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:

Relevant External Links for RANBP2 Gene

GeneLoc Exon Structure for
RANBP2
ECgene alternative splicing isoforms for
RANBP2

Expression for RANBP2 Gene

mRNA expression in normal human tissues for RANBP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RANBP2 Gene

This gene is overexpressed in Serum (28.2) and Peripheral blood mononuclear cells (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RANBP2 Gene



Protein tissue co-expression partners for RANBP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RANBP2 Gene:

RANBP2

SOURCE GeneReport for Unigene cluster for RANBP2 Gene:

Hs.199561
genes like me logo Genes that share expression patterns with RANBP2: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RANBP2 Gene

Orthologs for RANBP2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RANBP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RANBP2 34 35
  • 99.36 (n)
dog
(Canis familiaris)
Mammalia RANBP2 34 35
  • 90.39 (n)
mouse
(Mus musculus)
Mammalia Ranbp2 35
  • 87 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RANBP2 35
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RANBP2 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RANBP2 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 65 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 68 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1708 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.7285 34
zebrafish
(Danio rerio)
Actinopterygii Dr.29687 34
fruit fly
(Drosophila melanogaster)
Insecta Cyp1 36
  • 66 (a)
CG5071 35
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T22F3.12 35
  • 39 (a)
ManyToMany
Y17G9B.4 35
  • 34 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YRB1 37
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 22 (a)
OneToMany
Species where no ortholog for RANBP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RANBP2 Gene

ENSEMBL:
Gene Tree for RANBP2 (if available)
TreeFam:
Gene Tree for RANBP2 (if available)

Paralogs for RANBP2 Gene

genes like me logo Genes that share paralogs with RANBP2: view

Variants for RANBP2 Gene

Sequence variations from dbSNP and Humsavar for RANBP2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs121434502 Encephalopathy, acute, infection-induced, 3 (IIAE3) [MIM:608033], other 108,751,993(+) GAAAA(C/T)GGTGA reference, missense
rs121434503 Encephalopathy, acute, infection-induced, 3 (IIAE3) [MIM:608033], other 108,753,466(+) CATAA(C/T)TTTTG reference, missense
rs121434504 Encephalopathy, acute, infection-induced, 3 (IIAE3) [MIM:608033], other 108,753,474(+) TTGCT(A/G)TATTG reference, missense
rs121908450 Pathogenic 108,929,288(-) CAGGC(A/G)TCACA intron-variant, reference, missense
rs121908451 Pathogenic 108,929,295(-) AGATA(C/T)GCAGG intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for RANBP2 Gene

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

Variation tolerance for RANBP2 Gene

Residual Variation Intolerance Score: 8.81% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.15; 75.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RANBP2 Gene

Human Gene Mutation Database (HGMD)
RANBP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RANBP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RANBP2 Gene

Disorders for RANBP2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for RANBP2 Gene - From: GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
inflammatory myofibroblastic tumor
  • inflammatory fibrosarcoma
infection-induced acute encephalopathy 3, susceptibility
  • ane1
familial acute necrotizing encephalopathy
  • adane
encephalopathy
  • brain diseases
encephalopathy, acute, infection-induced, 4
  • encephalopathy, acute, infection-induced, susceptibility to, 4
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

RBP2_HUMAN
  • Encephalopathy, acute, infection-induced, 3 (IIAE3) [MIM:608033]: A rapidly progressive encephalopathy manifesting in susceptible individuals with seizures and coma. It can occur within days in otherwise healthy children after common viral infections such as influenza and parainfluenza, without evidence of viral infection of the brain or inflammatory cell infiltration. Brain T2-weighted magnetic resonance imaging reveals characteristic symmetric lesions present in the thalami, pons and brainstem. {ECO:0000269 PubMed:19118815}. Note=The disease is caused by mutations affecting the gene represented in this entry. Mutations in the RANBP2 gene predispose to IIAE3, but by themselves are insufficient to make the phenotype fully penetrant; additional genetic and environmental factors are required (PubMed:19118815). {ECO:0000269 PubMed:19118815}.

Relevant External Links for RANBP2

Genetic Association Database (GAD)
RANBP2
Human Genome Epidemiology (HuGE) Navigator
RANBP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RANBP2
genes like me logo Genes that share disorders with RANBP2: view

No data available for Genatlas for RANBP2 Gene

Publications for RANBP2 Gene

  1. Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. (PMID: 19118815) Neilson D.E. … Warman M.L. (Am. J. Hum. Genet. 2009) 2 3 4 22 64
  2. Parkin ubiquitinates and promotes the degradation of RanBP2. (PMID: 16332688) Um J.W. … Chung K.C. (J. Biol. Chem. 2006) 3 4 22 64
  3. Unique binding interactions among Ubc9, SUMO and RanBP2 reveal a mechanism for SUMO paralog selection. (PMID: 15608651) Tatham M.H. … Hay R.T. (Nat. Struct. Mol. Biol. 2005) 3 4 22 64
  4. Solution structure of the Ran-binding domain 2 of RanBP2 and its interaction with the C terminus of Ran. (PMID: 15826666) Geyer J.P. … Kalbitzer H.R. (J. Mol. Biol. 2005) 3 4 22 64
  5. The nucleoporin RanBP2 has SUMO1 E3 ligase activity. (PMID: 11792325) Pichler A. … Melchior F. (Cell 2002) 3 4 22 64

Products for RANBP2 Gene

Sources for RANBP2 Gene

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