RANBP2 - RAN binding protein 2 Gene

Also Known as ANE1; TRP1; TRP2; ADANE; IIAE3; NUP358

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5903

About RANBP2

Cytogenetic location: 2q13 Genomic coordinates (GRCh38): 2:108,719,482-109,842,301 (from NCBI)

This gene has 19 transcripts (splice variants), 205 orthologues, 10 paralogues and is associated with 99 phenotypes. Ubiquitous expression in testis (RPKM 18.7), thyroid (RPKM 17.9) and 25 other tissues.

Summary

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 Products (1)

mRNA	Protein	Name
NM_006267.5	NP_006258.3	E3 SUMO-protein ligase RanBP2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables SUMO ligase activity	IDA IDA: Inferred from direct assay	17264123	GOA
enables SUMO transferase activity	EXP EXP: Inferred from Experiment	11792325	GOA
NOT enables peptidyl-prolyl cis-trans isomerase activity	IDA IDA: Inferred from direct assay	20676357	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10078529	GOA
enables small GTPase binding	IPI IPI: Inferred from physical interaction	7603572	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in NLS-bearing protein import into nucleus	IMP IMP: Inferred from mutant phenotype	7603572	GOA
involved in centrosome localization	IMP IMP: Inferred from mutant phenotype	20386726	GOA
involved in nuclear export	EXP EXP: Inferred from Experiment	27160050	GOA
involved in protein sumoylation	IDA IDA: Inferred from direct assay	22155184	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of SUMO ligase complex	IPI IPI: Inferred from physical interaction	22194619	GOA
located in annulate lamellae	IDA IDA: Inferred from direct assay	20386726	GOA
located in nuclear envelope	IDA IDA: Inferred from direct assay	20386726	GOA
located in nuclear inclusion body	IDA IDA: Inferred from direct assay	11839768	GOA
located in nuclear membrane	IDA IDA: Inferred from direct assay	11839768	GOA
part of nuclear pore	IDA IDA: Inferred from direct assay	17098863	GOA
part of nuclear pore cytoplasmic filaments	IDA IDA: Inferred from direct assay	7603572	GOA
part of nuclear pore nuclear basket	IDA IDA: Inferred from direct assay	11839768	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RANBP2 Protein Structure

TPR_1

Ran_BP1

zf-RanBP

Ran_BP1

IR1-M

Ran_BP1

Pro_isomerase

0
500
1000
1500
2000
2500
3000
3224 a.a.

Protein Preferred Names	Protein Names
E3 SUMO-protein ligase RanBP2	358 kDa nucleoporin

RANBP2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RANBP2	P49792	BICD2	Homo sapiens	Q8TD16	Anti Bait CoIP	20386726
Intra	RANBP2	P49792	RANGAP1	Homo sapiens	P46060	Anti Tag CoIP	35271311
Intra	RANBP2	P49792	RANGAP1	Homo sapiens	P46060	Pull Down	16204249
Intra	RANBP2	P49792	ERBB2	Homo sapiens	P04626	Anti Bait CoIP	16314522
Intra	RANBP2	P49792	PRKN	Homo sapiens	O60260	IF	16332688
Intra	RANBP2	P49792	PRKN	Homo sapiens	O60260	Pull Down	16332688
Intra	RANBP2	P49792	PRKN	Homo sapiens	O60260	Anti Bait CoIP	16332688
Intra	RANBP2	P49792	PRKN	Homo sapiens	O60260	Anti Tag CoIP	16332688
Intra	RANBP2	P49792	PRKN	Homo sapiens	O60260	Y2H	16332688
Intra	RANBP2	P49792	C7orf25	Homo sapiens	Q9BPX7	FPS	37219487
Intra	RANBP2	P49792	UBE2I	Homo sapiens	P63279	Anti Tag CoIP	35271311
Intra	RANBP2	P49792	UBE2I	Homo sapiens	P63279	Y2H Pooling	20936779

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Familial Acute Necrotizing Encephalopathy	Adane Recurrent Acute Necrotizing Encephalopathy
Hypohidrotic Ectodermal Dysplasia Autosomal Recessive	Anhidrotic Ectodermal Dysplasia, Autosomal Recessive Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Ar-Hed Autosomal Recessive Anhidrotic Ectodermal Dysplasia Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Hypohidrotic Ectodermal Dysplasia Hed Anhidrotic Ectodermal Dysplasia Ectodermal Dysplasia, Hypohidrotic Eda Christ-Siemens-Touraine Syndrome ECTD10B Ectodermal Dysplasia Anhidrotic Ectodermal Dysplasia, Anhidrotic Cst Syndrome Ectodermal Dysplasia Hypohidrotic Autosomal Recessive Dysplasia, Ectodermal, Type 10b, Hypohidrotic/Hair/Tooth, Autosomal Recessive Dysplasia, Ectodermal, Hypohidrotic Ectodermal Dysplasia 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive Ectodermal Dysplasia 3, Anhidrotic Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Ectodermal Dysplasia 10a, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	ECTD10A Hed Ectodermal Dysplasia 10a Ectodermal Dysplasia Hypohidrotic Autosomal Dominant Autosomal Dominant Hypohidrotic Ectodermal Dysplasia Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant Hypohidrotic Ectodermal Dysplasia Autosomal Dominant Ad-Hed Autosomal Dominant Anhidrotic Ectodermal Dysplasia Ectodermal Dysplasia 3 Ed3 Eda3 Ectodermal Dysplasia, Anhidrotic, Autosomal Dominant Dysplasia, Ectodermal, Type 10a, Hypohidrotic/Hair/Nail, Autosomal Dominant Dysplasia, Ectodermal, Type 3
Mitochondrial Dna Depletion Syndrome 4a	Alpers Syndrome Alpers-Huttenlocher Syndrome Alpers Progressive Infantile Poliodystrophy Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis Alpers Disease Progressive Sclerosing Poliodystrophy Pndc Diffuse Cerebral Sclerosis Of Schilder MTDPS4A Neuronal Degeneration Of Childhood With Liver Disease, Progressive Alper'S Syndrome Alpers' Disease Or Gray-Matter Degeneration Diffuse Cerebral Degeneration In Infancy Infantile Poliodystrophy Poliodystrophia Cerebri Progressiva Progressive Cerebral Poliodystrophy Alpers' Disease Alpers Progressive Sclerosing Poliodystrophy Progressive Neuronal Degeneration Of Childhood With Liver Disease Ahs Mitochondrial Dna Depletion Syndrome 4a Alpers Type Neuronal Degeneration Of Childhood With Liver Disease Progressive
Ectodermal Dysplasia	Congenital Ectodermal Defect Congenital Ectodermal Dysplasia Ectodermal Dysplasia Syndrome Dysplasia, Ectodermal
Inflammatory Myofibroblastic Tumor	Inflammatory Fibrosarcoma
Mitochondrial Dna Depletion Syndrome 4b	Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Mngie Syndrome Thymidine Phosphorylase Deficiency MTDPS4B Mitochondrial Neurogastrointestinal Encephalopathy Disease Mngie Myoneurogastrointestinal Encephalopathy Syndrome Ogimd Oculogastrointestinal Muscular Dystrophy Polip Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudo-Obstruction Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Polg-Related Mngie, Polg-Related Mepop Mitochondrial Myopathy With Sensorimotor Polyneuropathy, Ophthalmoplegia, And Pseudo-Obstruction Mngie Disease Mitochondrial Dna Depletion Syndrome 4b Mngie Type Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Polg-Related Mngie Polg-Related Mitochondrial Dna Depletion Syndrome, Type 4b Visceral Myopathy Familial External Ophthalmoplegia
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth
Acute Necrotizing Encephalitis	Acute Necrotizing Encephalopathy Postinfectious Acute Necrotizing Hemorrhagic Encephalopathy Ane Acute Necrotizing Encephalopathy Type 1 Adane Ane1 Autosomal Dominant Acute Necrotizing Encephalopathy Iiae3 Susceptibility To Acute Necrotizing Encephalopathy Susceptibility To Infection-Induced Acute Encephalopathy Encephalopathy, Acute Necrotizing, Susceptibility To Encephalitis, Acute Necrotizing
Encephalopathy, Acute, Infection-Induced 4	Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4 IIAE4 Encephalopathy, Acute, Infection-Induced, 4, Susceptibility To Encephalopathy, Acute, Infection-Induced, 4 Acute Necrotizing Encephalopathy Of Childhood Anec Isolated Ane Isolated Acute Necrotizing Encephalopathy Encephalopathy Acute Infection-Induced 4
Ectodermal Dysplasia 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	ECTD11B Hed Eda Ectodermal Dysplasia 11b Ectodermal Dysplasia, Hypohidrotic Ectodermal Dysplasia, Anhidrotic Ectodermal Dysplasia Anhidrotic Ectodermal Dysplasia Hypohidrotic Autosomal Recessive Dysplasia, Ectodermal, Type 11b, Hypohidrotic/Hair/Tooth, Autosomal Recessive Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Epithelioid Inflammatory Myofibroblastic Sarcoma
Influenza	Flu Influenza With Non-Respiratory Manifestation Influenza With Other Manifestations Influenza, Human Influenza, Susceptibility To Seasonal Influenza, Virus Identified
Encephalopathy	Brain Diseases Encephalopathies Toxic Encephalopathy Toxic Brain Fever Toxic Brain Inflammation Toxic Brain Stem Inflammation Toxic Cerebral Fever Toxic Cerebrospinal Fever Toxic Cerebrospinal Inflammation Encephalopathy Nec Encephalopathy Nos Encephalopathy Disease Encephalopathy Syndrome
Acute Hemorrhagic Encephalitis
8p11 Myeloproliferative Syndrome	8p11 Stem Cell Leukemia/Lymphoma Syndrome 8p11 Stem Cell Syndrome Myeloid And Lymphoid Neoplasms With Fgfr1 Abnormalities Stem Cell Leukemia/Lymphoma Myeloid And Lymphoid Neoplasms With Fgfr1 Rearrangement Chromosome 8p11 Myeloproliferative Syndrome
Chromosome 8p11 Myeloproliferative Syndrome	Stem Cell Leukemia/Lymphoma Scll Myeloid/Lymphoid Neoplasm Associated With Fgfr1 Rearrangement 8p11 Myeloproliferative Syndrome Myeloid And Lymphoid Neoplasms With Fgfr1 Rearrangement
Fourth Cranial Nerve Palsy	Fourth Nerve Palsy Fourth Cranial Nerve Paresis Fourth Or Trochlear Nerve Palsy 4th Nerve Palsy Fourth Cranial Nerve Paralysis Superior Oblique Palsy Trochlear Nerve Palsy Trochlear Nerve Paralysis Trochlear Nerve Weakness Isolated Trochlear Nerve Palsy Atrophy Of Fourth Cranial Nerve Atrophy Of Trochlear Nerve
Pulmonary Plasma Cell Granuloma	Plasma Cell Granuloma, Pulmonary Granuloma, Plasma Cell, Pulmonary Lymphocytic Pseudotumor Of Lung Sclerosing Hemangiocytoma Of Lung
Mesenchymal Cell Neoplasm	Benign Miscellaneous Mesenchymal Tumor Mesenchymal Tumor Mesenchymal Tumors
Postinfectious Encephalitis	Postinfective Encephalitis Secondary Encephalitis
Lymphoblastic Lymphoma	Lymphoma, Lymphoblastic Lymphoma Lymphoblastic Precursor Cell Lymphoblastic Lymphoma Precursor Cell Lymphoblastic Leukemia Lymphoma
Acute Disseminated Encephalomyelitis	Acute Disseminated Encephalitis Adem Ade Encephalomyelitis Acute Disseminated Encephalomyelitis, Acute Disseminated Adem - [Acute Disseminated Encephalomyelitis]
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11645	RANBP2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	RANBP2	VGNC	VGNC:103649
Rattus norvegicus	RANBP2	RGD	RGD:1560047
Mus musculus	RANBP2	MGD	MGI:894323
Macaca mulatta	RANBP2	VGNC	VGNC:106205
Others	RANBP2	NCBI