RANBP2 - RAN binding protein 2 Gene

中文名称：RAN 结合蛋白 2

种属: Homo sapiens

同用名: ANE1; TRP1; TRP2; ADANE; IIAE3; NUP358

基因 ID: 5903 | 基因类型: protein coding

关于 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.

功能概要

RAN 是 Ras 超家族的一种小 GTP 结合蛋白，与核膜相关，被认为通过与其他蛋白的相互作用来控制多种细胞功能。该基因编码一种非常大的 RAN 结合蛋白，可免疫定位于核孔复合体。该蛋白质是一个巨大的支架和镶嵌亲环蛋白相关的核孔蛋白，与 Ran-GTPase 循环有关。编码的蛋白质直接与 E2 酶 UBC9 相互作用，并强烈增强 SUMO1 从 UBC9 转移到 SUMO1 目标 SP100。这些发现将 sumoylation 置于核孔复合体的细胞质细丝处，并表明，对于某些底物，修饰和核导入是相互关联的事件。该基因在基因簇中部分复制，该基因簇位于染色体 2q 上的重组热点。[RefSeq 提供，2008 年 7 月]

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 基因产物(1)

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

RANBP2 蛋白结构

TPR_1

Ran_BP1

zf-RanBP

Ran_BP1

IR1-M

Ran_BP1

Pro_isomerase

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

蛋白主名

其他名称

E3 SUMO-protein ligase RanBP2

358 kDa nucleoporin

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS11645	RANBP2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

RANBP2 - RAN binding protein 2 Gene

关于 RANBP2

功能概要

RANBP2 基因产物(1)

RANBP2 蛋白结构

关联疾病

直系同源

热门区域

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RANBP2 - RAN binding protein 2 Gene

关于 RANBP2

功能概要

RANBP2 基因产物(1)

RANBP2 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z