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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
  • Nucleoporin 358 2 3
  • NUP358 3 4
  • P270 3 4
  • E3 SUMO-Protein Transferase RanBP2 3
  • Transformation-Related Protein 2 3
  • E3 SUMO-Protein Ligase RanBP2 3
  • EC 2.3.2.- 4
  • RanBP2 4
  • ADANE 3
  • IIAE3 3
  • TRP1 3
  • TRP2 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 Familial Acute Necrotizing Encephalopathy and Inflammatory Myofibroblastic Tumor. Among its related pathways are Cell Cycle, Mitotic and Transport of the SLBP independent Mature mRNA. 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 RGPD4.

UniProtKB/Swiss-Prot for RANBP2 Gene

  • E3 SUMO-protein ligase which facilitates SUMO1 and SUMO2 conjugation by UBE2I (PubMed:11792325, PubMed:12032081, PubMed:15378033, PubMed:22194619, PubMed:15931224). 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 (PubMed:7775481). Binds single-stranded RNA (in vitro) (PubMed:7775481). May bind DNA (PubMed:7775481). Component of the nuclear export pathway (PubMed:10078529). Specific docking site for the nuclear export factor exportin-1 (PubMed:10078529). Sumoylates PML at Lys-490 which is essential for the proper assembly of PML-NB (PubMed:22155184). Recruits BICD2 to the nuclear envelope and cytoplasmic stacks of nuclear pore complex known as annulate lamellae during G2 phase of cell cycle (PubMed:20386726).

Gene Wiki entry for RANBP2 Gene

Additional gene information for RANBP2 Gene

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

Genomics for RANBP2 Gene

GeneHancer (GH) Regulatory Elements for RANBP2 Gene

Promoters and enhancers for RANBP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J108718 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 655.6 +0.2 236 2.2 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 RANBP2 GCC2 GC02P108708 CCDC138
GH02J108583 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 15.9 -128.8 -128764 14.2 PKNOX1 SMAD1 ARNT IRF4 ZNF766 CBX5 ZNF143 FOS JUNB REST LIMS1 GCC2 RANBP2 PIR40245
GH02J109605 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 11.4 +891.8 891771 11 HDGF FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 SEPT10 RANBP2 SOWAHC SMIM37 GPAA1P2 ENSG00000230696
GH02J109635 Enhancer 1.3 FANTOM5 Ensembl ENCODE 11.5 +917.8 917806 3.8 ELF3 FOXA2 MLX ARID4B BATF DNMT3B RARA ATF7 ZNF548 IKZF2 GC02P109639 SOWAHC SEPT10 RANBP2 RGPD6
GH02J109469 Enhancer 1.1 Ensembl ENCODE dbSUPER 13.1 +751.6 751550 2.1 PKNOX1 CLOCK SIN3A GTF3C2 CTBP1 GATA3 POLR3A POLR2A RCOR1 FOS PIR62328 RANBP2 PIR55808 SH3RF3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RANBP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RANBP2 gene promoter:
  • p53
  • Nkx2-5
  • Pax-5
  • POU3F1
  • AP-1
  • c-Fos
  • c-Jun
  • Tal-1
  • E47

Genomic Locations for RANBP2 Gene

Genomic Locations for RANBP2 Gene
chr2:108,719,446-108,785,811
(GRCh38/hg38)
Size:
66,366 bases
Orientation:
Plus strand
chr2:109,335,937-109,402,267
(GRCh37/hg19)
Size:
66,331 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 complex with NXT1, NXF1 and RANGAP1 (PubMed:14729961). Forms a tight complex with RANBP1 and UBE2I (PubMed:15388847, PubMed:10078529, PubMed:15826666). Interacts with SUMO1 but not SUMO2 (PubMed:15388847, PubMed:10078529, PubMed:15826666). Interacts with PRKN (PubMed:16332688). Interacts with sumoylated RANGAP1 (PubMed:15378033, PubMed:10078529, PubMed:15826666). Interacts with CDCA8 (PubMed:19413330). Interacts with PML (isoform PML-4) (PubMed:22155184). Interacts with BICD2 (PubMed:20386726).

    Three dimensional structures from OCA and Proteopedia for RANBP2 Gene

neXtProt entry for RANBP2 Gene

Post-translational modifications for RANBP2 Gene

  • Polyubiquitinated by PRKN, 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 posLast=29592959, posLast=25222522, Lys2396, and posLast=21252125
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RANBP2 Gene

Domains & Families for RANBP2 Gene

Gene Families for RANBP2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Transporters

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 FG repeats. FG repeats are interaction sites for karyopherins (importins, exportins) and form probably an affinity gradient, guiding the transport proteins unidirectionally with their cargo through the NPC. FG repeat regions are highly flexible and lack ordered secondary structure. The overall conservation of FG repeats regarding exact sequence, spacing, and repeat unit length is limited.
  • Belongs to the RanBP2 E3 ligase family.
Domain:
  • Contains FG repeats. FG repeats are interaction sites for karyopherins (importins, exportins) and form probably an affinity gradient, guiding the transport proteins unidirectionally with their cargo through the NPC. FG repeat regions are highly flexible and lack ordered secondary structure. The overall conservation of FG repeats regarding exact sequence, spacing, and repeat unit length is limited.
  • 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.
Family:
  • Belongs to the RanBP2 E3 ligase family.
genes like me logo Genes that share domains with RANBP2: view

Function for RANBP2 Gene

Molecular function for RANBP2 Gene

UniProtKB/Swiss-Prot Function:
E3 SUMO-protein ligase which facilitates SUMO1 and SUMO2 conjugation by UBE2I (PubMed:11792325, PubMed:12032081, PubMed:15378033, PubMed:22194619, PubMed:15931224). 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 (PubMed:7775481). Binds single-stranded RNA (in vitro) (PubMed:7775481). May bind DNA (PubMed:7775481). Component of the nuclear export pathway (PubMed:10078529). Specific docking site for the nuclear export factor exportin-1 (PubMed:10078529). Sumoylates PML at Lys-490 which is essential for the proper assembly of PML-NB (PubMed:22155184). Recruits BICD2 to the nuclear envelope and cytoplasmic stacks of nuclear pore complex known as annulate lamellae during G2 phase of cell cycle (PubMed:20386726).
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

Enzyme Numbers (IUBMB) for RANBP2 Gene

Phenotypes From GWAS Catalog 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:0005096 contributes_to GTPase activator activity IBA --
GO:0005515 protein binding IPI 14729961
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

Animal Model Products

  • Taconic Biosciences Mouse Models for RANBP2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RANBP2

No data available for Human Phenotype Ontology , 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. Nucleus envelope. 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RANBP2 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 4
mitochondrion 2
plasma membrane 1
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for RANBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IEA --
GO:0005635 nuclear envelope TAS --
GO:0005642 annulate lamellae IDA 20386726
GO:0005643 nuclear pore IEA,IDA 17098863
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with RANBP2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RANBP2 Gene

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:0000082 G1/S transition of mitotic cell cycle IBA --
GO:0000413 protein peptidyl-prolyl isomerization IEA --
GO:0006110 regulation of glycolytic process TAS --
GO:0006405 RNA export from nucleus IBA --
GO:0006406 mRNA export from nucleus TAS --
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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RANBP2

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, 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

Evidence on tissue expression from TISSUES for RANBP2 Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Blood(4.2)
  • Eye(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RANBP2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebrospinal fluid
  • head
  • meninges
  • neck
Thorax:
  • lung
Limb:
  • lower limb
  • upper limb
General:
  • spinal cord
genes like me logo Genes that share expression patterns with RANBP2: view

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 33
  • 99.36 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RANBP2 34 33
  • 90.39 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ranbp2 34
  • 87 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RANBP2 34
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RANBP2 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RANBP2 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 65 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 68 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.7285 33
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1708 33
zebrafish
(Danio rerio)
Actinopterygii Dr.29687 33
fruit fly
(Drosophila melanogaster)
Insecta Cyp1 35
  • 66 (a)
CG5071 34
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T22F3.12 34
  • 39 (a)
ManyToMany
Y17G9B.4 34
  • 34 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YRB1 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RANBP2: view image

Paralogs for RANBP2 Gene

(26) SIMAP similar genes for RANBP2 Gene using alignment to 2 proteins:

  • RBP2_HUMAN
  • F8WBP7_HUMAN
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 Variation AA Info Type
rs10185197 benign, not specified, Encephalopathy, acute, infection-induced, 3, suceptibility to 108,783,811(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, synonymous_variant
rs10206737 likely-benign, Hypohidrotic Ectodermal Dysplasia, Dominant 108,895,908(+) G/A genic_downstream_transcript_variant, intron_variant
rs1057956 uncertain-significance, Encephalopathy, acute, infection-induced, 3, suceptibility to 108,751,977(+) G/A coding_sequence_variant, missense_variant
rs1060499610 pathogenic, Autosomal dominant hypohidrotic ectodermal dysplasia 108,929,270(+) CCC/CC genic_downstream_transcript_variant, intron_variant
rs1060499624 likely-pathogenic, Encephalopathy, acute, infection-induced, 3, suceptibility to 108,765,788(+) C/G coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant

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)

Additional Variant Information 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

(13) MalaCards diseases for RANBP2 Gene - From: HGMD, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
familial acute necrotizing encephalopathy
  • adane
inflammatory myofibroblastic tumor
  • inflammatory fibrosarcoma
acute necrotizing encephalopathy
  • acute necrotizing encephalitis
encephalopathy, acute, infection-induced 4
  • encephalopathy, acute, infection-induced, susceptibility to, 4
encephalopathy
  • brain diseases
- 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}.

Additional Disease Information for RANBP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 DE … Warman ML (American journal of human genetics 2009) 2 3 4 22 58
  2. Bicaudal D2, dynein, and kinesin-1 associate with nuclear pore complexes and regulate centrosome and nuclear positioning during mitotic entry. (PMID: 20386726) Splinter D … Akhmanova A (PLoS biology 2010) 3 4 22 58
  3. Parkin ubiquitinates and promotes the degradation of RanBP2. (PMID: 16332688) Um JW … Chung KC (The Journal of biological chemistry 2006) 3 4 22 58
  4. Unique binding interactions among Ubc9, SUMO and RanBP2 reveal a mechanism for SUMO paralog selection. (PMID: 15608651) Tatham MH … Hay RT (Nature structural & molecular biology 2005) 3 4 22 58
  5. Solution structure of the Ran-binding domain 2 of RanBP2 and its interaction with the C terminus of Ran. (PMID: 15826666) Geyer JP … Kalbitzer HR (Journal of molecular biology 2005) 3 4 22 58

Products for RANBP2 Gene

Sources for RANBP2 Gene

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