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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 nucleopor... See more...
Aliases for RANBP2 Gene
Aliases for RANBP2 Gene
External Ids for RANBP2 Gene
- HGNC: 9848
- NCBI Entrez Gene: 5903
- Ensembl: ENSG00000153201
- OMIM®: 601181
- UniProtKB/Swiss-Prot: P49792
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
-
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 Acute Necrotizing Encephalitis. 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 RGPD1.
UniProtKB/Swiss-Prot Summary 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). Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity (PubMed:20676357, PubMed:23353830).
Additional gene information for RANBP2 Gene
- HGNC (9848)
- NCBI Entrez Gene (5903)
- Ensembl (ENSG00000153201)
- OMIM® (601181)
- UniProtKB/Swiss-Prot (P49792)
- Open Targets Platform(ENSG00000153201)
- Monarch Initiative
- Alliance of Genome Resources
- Search for RANBP2 at DataMed
- Search for RANBP2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RANBP2 Gene
Genomics for RANBP2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for RANBP2 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RANBP2
- Top Transcription factor binding sites by QIAGEN in the RANBP2 gene promoter:
-
- AP-1
- c-Fos
- c-Jun
- E47
- Nkx2-5
- p53
- Pax-5
- POU3F1
- Tal-1
Genomic Locations for RANBP2 Gene
Latest Assembly
- chr2:108,719,446-108,785,809
- (GRCh38/hg38)
- Size:
- 66,364 bases
- Orientation:
- Plus strand
Previous Assembly
- chr2:109,335,938-109,402,265
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 66,328 bases
- Orientation:
- Plus strand
Genomic View for RANBP2 Gene
Genes around RANBP2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q13 by HGNC
- 2q13 by Entrez Gene
- 2q13 by Ensembl
RANBP2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- Q13074
- Q15280
- Q53TE2
- Q59FH7
Protein attributes for RANBP2 Gene
- Size:
- 3224 amino acids
- Molecular mass:
- 358199 Da
- Quaternary structure:
-
- Part of the nuclear pore complex (PubMed:11839768, PubMed:20386726, PubMed:23353830, PubMed:7603572). 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). Interacts with MCM3AP isoform GANP (PubMed:20005110).
Protein Expression for RANBP2 Gene
Selected DME Specific Peptides for RANBP2 Gene
- P49792:
-
- VKKIESFGS
- GLLSMAN
- KFEDENF
- TAENFRAL
- PRTAENF
- LCTGEKG
Post-translational modifications for RANBP2 Gene
- Polyubiquitinated by PRKN, which leads to proteasomal degradation.
- 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.
-
Glycosylation at Thr1399
- NX_P49792 (NX_P49792-1)
-
Ubiquitination at Lys2125, Lys2396, Lys2522, and Lys2959
- NX_P49792 (NX_P49792-1)
- Modification sites at PhosphoSitePlus
-
Glycosylation from GlyConnect
- RBP2_HUMAN (2890)
Other Protein References for RANBP2 Gene
Antibodies for research
- LifeSpan BioSciences RANBP2 / TRP1 Antibody (LS-B11329) and RANBP2 / TRP1 Antibody (LS-B15058)
- Novus Biologicals Antibodies for RANBP2
-
Abcam antibodies for RANBP2
- Invitrogen Antibodies for RANBP2 (AFLGC-RANBP2)
- antibodies-online: Show 34 available RANBP2 Antibodies ranked by validation data
- Compare Top RANBP2 Antibodies
-
Recommended
- 12 IF (p) Antibodies (anti-human)
- 10 WB Antibodies (anti-human)
- 5 IHC (p) Antibodies (anti-human)
- 1 IF Antibody (anti-human)
- 1 IHC Antibody (anti-human)
- 12 IF (p) Antibodies (anti-mouse)
- 6 WB Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-rat)
- 4 WB Antibodies (anti-rat)
- 3 IHC (p) Antibodies (anti-rat)
-
Boster Bio Antibodies for RANBP2
-
Santa Cruz Biotechnology (SCBT) Antibodies for RANBP2
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for RANBP2
- Origene Custom Protein Services for RANBP2
- Novus Biologicals proteins for RANBP2
-
Abcam proteins for RANBP2
Assay products for research
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
Protein Domains for RANBP2 Gene
- InterPro:
- Blocks:
-
- Zn-finger, Ran-binding
- RanBP1 domain
- Peptidyl-prolyl cis-trans isomerase, cyclophilin type
Suggested Antigen Peptide Sequences for RANBP2 Gene
- GenScript: Design optimal peptide antigens:
-
- p270 (RBP2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P49792UniProtKB/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.
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). Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity (PubMed:20676357, PubMed:23353830).
- 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
| 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 |
Phenotypes for RANBP2 Gene
- GenomeRNAi human phenotypes for RANBP2:
-
- Decreased viability
- shRNA abundance <= 50%
- Decreased shRNA abundance (Z-score < -2)
- Reduced mammosphere formation
- no effect
- Dynamic nuclei (hole, folded or small irregular)
- Increased IL-8 secretion
- Decreased p24 protein expression
- Increased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Decreased viability of wild-type and TP53 knockout cells
- Increased shRNA abundance (Z-score > 2)
- Weakly decreased NFAT1-GFP nuclear translocation
- Nuclear 40S maturation defects
- Decreased Aire reporter expression
- Decreased HIV-1 infection
- Nuclear pre-40S maturation defects
- Decreased DCP1a protein expression and assembly in processing bodies after arsenite stimulation
Animal Models for research
-
Taconic Biosciences Mouse Models for RANBP2
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for RANBP2 - Starting at $85 >
- * RANBP2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for RANBP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RANBP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for RANBP2
miRNA for RANBP2 Gene
- miRTarBase miRNAs that target RANBP2
-
- mmu-miR-17-5p (MIRT009844)
- hsa-miR-708-5p (MIRT037743)
- hsa-miR-106b-3p (MIRT038578)
- hsa-miR-421 (MIRT039354)
- hsa-miR-423-3p (MIRT042469)
- hsa-miR-186-5p (MIRT045244)
- hsa-miR-125b-5p (MIRT046041)
- hsa-let-7g-5p (MIRT046567)
- hsa-miR-92a-3p (MIRT049119)
- hsa-let-7e-5p (MIRT051582)
- hsa-let-7a-5p (MIRT052536)
- hsa-miR-7152-5p (MIRT654466)
- hsa-miR-3074-5p (MIRT654467)
- hsa-miR-1200 (MIRT654468)
- hsa-miR-378a-5p (MIRT654469)
- hsa-miR-539-5p (MIRT654470)
- hsa-miR-3124-3p (MIRT654471)
- hsa-miR-3140-5p (MIRT654472)
- hsa-miR-520h (MIRT654473)
- hsa-miR-520g-3p (MIRT654474)
- hsa-miR-3973 (MIRT654475)
- hsa-miR-551b-5p (MIRT654476)
- hsa-miR-6507-3p (MIRT654477)
- hsa-miR-4311 (MIRT654478)
- hsa-miR-4439 (MIRT654479)
- hsa-miR-943 (MIRT654480)
- hsa-miR-6826-3p (MIRT654481)
- hsa-miR-3136-5p (MIRT654482)
- hsa-miR-4667-3p (MIRT654483)
- hsa-miR-1470 (MIRT654484)
- hsa-miR-6795-3p (MIRT654485)
- hsa-miR-6887-3p (MIRT654486)
- hsa-miR-5003-5p (MIRT654487)
- hsa-miR-542-3p (MIRT711394)
- hsa-miR-4504 (MIRT711395)
- hsa-miR-642b-3p (MIRT711396)
- hsa-miR-642a-3p (MIRT711397)
- hsa-miR-4501 (MIRT711398)
- hsa-miR-8087 (MIRT711399)
- hsa-miR-7161-5p (MIRT711400)
- hsa-miR-548u (MIRT711401)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RANBP2
- Browse OriGene Inhibitory RNA Products For RANBP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RANBP2
Clone products for research
- Applied Biological Materials (abm): Clones for RANBP2 - Starting at $45 >
- * RANBP2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Addgene plasmids for RANBP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RANBP2
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. Nucleus envelope. Note=Detected in diffuse and discrete intranuclear foci (PubMed:11839768). Cytoplasmic filaments (PubMed:7775481). {ECO:0000269 PubMed:11839768, ECO:0000269 PubMed:7775481}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| mitochondrion | 3 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| endoplasmic reticulum | 2 |
| golgi apparatus | 2 |
| extracellular | 1 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
- Nuclear membrane (3)
- Nucleoplasm (3)
- Vesicles (3)
| 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 | -- |
Pathways & Interactions for RANBP2 Gene
| 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 | ||
Pathways by source for RANBP2 Gene
3 BioSystems pathways for RANBP2 Gene
71 Reactome pathways for RANBP2 Gene
2 KEGG pathways for RANBP2 Gene
3 GeneGo (Thomson Reuters) pathways for RANBP2 Gene
- DNA damage Role of SUMO in p53 regulation
- Proteolysis Putative SUMO-1 pathway
- Transcription_P53 signaling pathway
2 Qiagen pathways for RANBP2 Gene
- Ran Pathway
- SUMO Pathway
UniProtKB/Swiss-Prot P49792-RBP2_HUMAN
- Pathway: Protein modification; protein sumoylation.
Interacting Proteins for RANBP2 Gene
Selected Interacting proteins:
P49792-RBP2_HUMAN
ENSP00000283195
for RANBP2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for RANBP2
SIGNOR curated interactions 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:0006110 | regulation of glycolytic process | TAS | -- |
| GO:0006111 | regulation of gluconeogenesis | IEA | -- |
| GO:0006406 | mRNA export from nucleus | TAS | -- |
Drugs & Compounds for RANBP2 Gene
| 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 |
|---|
Transcripts for RANBP2 Gene
mRNA/cDNA for RANBP2 Gene
- 1 REFSEQ mRNAs :
- 10 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000283195 11708 nts (view in UCSC)
- ENST00000425282 367 nts (view in UCSC)
- ENST00000495506 544 nts (view in UCSC)
- ENST00000495924 646 nts (view in UCSC)
- ENST00000629728 156 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for RANBP2 - Starting at $85 >
- * RANBP2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for RANBP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RANBP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for RANBP2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RANBP2
- Browse OriGene Inhibitory RNA Products For RANBP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RANBP2
Clone products for research
- Applied Biological Materials (abm): Clones for RANBP2 - Starting at $45 >
- * RANBP2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Addgene plasmids for RANBP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RANBP2
| 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
Expression for RANBP2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Testis (Reproductive System)
- XY Germ Cells Testis Cord
-
Gonad
- XY Germ Cells Testis Cord
- Blood (Hematopoietic System)
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RANBP2
SOURCE GeneReport for Unigene cluster for RANBP2 Gene:
Hs.199561Evidence on tissue expression from TISSUES for RANBP2 Gene
- Nervous system(4.8)
- Liver(4.6)
- Blood(4.5)
- Kidney(2.6)
- Muscle(2.5)
- Heart(2.5)
- Lung(2.5)
- Intestine(2.4)
- Skin(2.4)
- Eye(2.4)
- Spleen(2.3)
- Bone marrow(2.1)
- Stomach(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
Primer products for research
-
OriGene qPCR primer pairs for RANBP2
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | RANBP2 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | RANBP2 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Ranbp2 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | RANBP2 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | RANBP2 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | RANBP2 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | -- 30 |
|
ManyToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 30 |
|
OneToMany | |
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.7285 29 |
|
||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.1708 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | Dr.29687 29 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Cyp1 31 |
|
|
|
| CG5071 30 |
|
OneToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | T22F3.12 30 |
|
ManyToMany | |
| Y17G9B.4 30 |
|
ManyToMany | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YRB1 32 |
|
|
|
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
OneToMany |
- Species where no ortholog for RANBP2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
- Alliance of Genome Resources:
- Additional Orthologs for RANBP2
Paralogs for RANBP2 Gene
Paralogs for RANBP2 Gene
(26) SIMAP similar genes for RANBP2 Gene using alignment to 2 proteins:
- RBP2_HUMAN
- F8WBP7_HUMAN
Variants for RANBP2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RANBP2 Gene
| SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1000143 | Uncertain Significance: Encephalopathy, acute, infection-induced, 3, suceptibility to | 108,766,325(+) |
G/A NM_006267.5(RANBP2):c.5786G>A (p.Gly1929Asp) |
MISSENSE | |
| 1000431 | Uncertain Significance: Encephalopathy, acute, infection-induced, 3, suceptibility to | 108,731,443(+) |
T/G NM_006267.5(RANBP2):c.374T>G (p.Phe125Cys) |
MISSENSE | |
| 1001753 | Uncertain Significance: Encephalopathy, acute, infection-induced, 3, suceptibility to | 108,767,899(+) |
T/G NM_006267.5(RANBP2):c.7360T>G (p.Ser2454Ala) |
MISSENSE | |
| 1002017 | Uncertain Significance: Encephalopathy, acute, infection-induced, 3, suceptibility to | 108,764,131(+) |
C/T NM_006267.5(RANBP2):c.3592C>T (p.Arg1198Cys) |
MISSENSE | |
| 1003095 | Uncertain Significance: Encephalopathy, acute, infection-induced, 3, suceptibility to | 108,751,674(+) |
G/A NM_006267.5(RANBP2):c.1602G>A (p.Ala534=) |
SYNONYMOUS |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RANBP2 Gene
Disorders for RANBP2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| familial acute necrotizing encephalopathy |
|
|
| acute necrotizing encephalitis |
|
|
| acute necrotizing encephalopathy type 1 |
|
|
| inflammatory myofibroblastic tumor |
|
|
| encephalopathy, acute, infection-induced 4 |
|
Search RANBP2 in MalaCards
View complete list of genes associated with diseases
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 variants 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}.
- Note=A chromosomal aberration involving RANBP2 is a cause of chromosome 8p11 myeloproliferative syndrome. Translocation t(2;8)(q12;p11) with FGFR1. Chromosome 8p11 myeloproliferative syndrome is characterized by myeloid hyperplasia, eosinophilia and T-cell or B-cell lymphoblastic lymphoma. In general it progresses to acute myeloid leukemia. {ECO:0000269 PubMed:23041776}.
Additional Disease Information for RANBP2
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for RANBP2 Gene
Publications for RANBP2 Gene
- 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 72
- 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
- Parkin ubiquitinates and promotes the degradation of RanBP2. (PMID: 16332688) Um JW … Chung KC (The Journal of biological chemistry 2006) 3 4 22
- 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
- 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
ExternalLinks
Products for RANBP2 Gene
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- antibodies-online: Show 34 available RANBP2 Antibodies ranked by validation data
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Sources for RANBP2 Gene
- (1) GeneCards
- (2) HGNC
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- (4) UniProtKB/Swiss-Prot
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