2. Gene
  3. NUP214 - nucleoporin 214 Gene

NUP214 - nucleoporin 214 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：核孔蛋白 214

种属: Homo sapiens

同用名: CAN; CAIN; IIAE9

基因 ID: 8021 | 基因类型: protein coding

关于 NUP214

Cytogenetic location: 9q34.13 Genomic coordinates (GRCh38): 9:131,125,586-131,234,663 (from NCBI)

This gene has 40 transcripts (splice variants), 148 orthologues, 6 paralogues and is associated with 94 phenotypes. Broad expression in testis (RPKM 32.1), spleen (RPKM 10.1) and 24 other tissues.

功能概要

核孔复合体是一个巨大的结构，延伸穿过核膜，形成调节细胞核和细胞质之间大分子流动的通道。核孔蛋白是真核细胞核孔复合体的主要成分。该基因是含有 FG 重复的核孔蛋白的成员。由该基因编码的蛋白质定位于核孔复合体的细胞质面，这是细胞周期正常进行和核质运输所必需的。该基因的 3' 部分与 6 号染色体上的 DEK 基因在 at (6,9) 易位中形成融合基因，与急性髓性白血病和骨髓增生异常综合征相关。该基因的可变剪接导致编码不同亚型的多个转录变体。[RefSeq 提供，2015 年 12 月]

The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3' portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

NUP214 基因产物(3)

mRNA Protein Name
NM_001318324.2 NP_001305253.1 nuclear pore complex protein Nup214 isoform 3
NM_001318325.2 NP_001305254.1 nuclear pore complex protein Nup214 isoform 4
NM_005085.4 NP_005076.3 nuclear pore complex protein Nup214 isoform 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables nuclear export signal receptor activity IDA
IDA: 通过直接分析推断
10358091 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11545741 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mRNA export from nucleus IMP
IMP: 通过突变表型推断
10557333 GOA
acts upstream of or within protein export from nucleus IMP
IMP: 通过突变表型推断
12191473 GOA
involved in regulation of nucleocytoplasmic transport IMP
IMP: 通过突变表型推断
11000203 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasmic side of nuclear pore IDA
IDA: 通过直接分析推断
8108440 GOA
located in nuclear envelope IDA
IDA: 通过直接分析推断
24315095 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断
蛋白主名 其他名称

nuclear pore complex protein Nup214

CAN protein, putative oncogene

关联疾病

疾病名称 别名
Encephalopathy, Acute, Infection-Induced 9

IIAE9

Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9

Encephalopathy, Acute, Infection-Induced, 9

{Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9}
Acute Myeloid Leukemia With T(6;9) (P23;Q34.1)

Acute Myeloid Leukemia With T(6

9)(P23

Q34)

Acute Myeloid Leukemia With T(6

9) (P23

Q34.1)

Dek-Nup214

Dek-Nup214

Aml With T(6

9)(P23

Q34)
Leukemia, Acute Myeloid

Acute Myeloid Leukemia

Leukemia, Acute Myelogenous

Acute Myelogenous Leukemia

AML

Leukemia, Acute Myeloid, Susceptibility To

Acute Myeloblastic Leukemia

Leukemia, Acute Myeloid, Reduced Survival In, Somatic

Acute Myeloid Leukaemia

Leukemia, Myelocytic, Acute

Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

Secondary Aml

Acute Myelocytic Leukemia

Acute Myeloid Leukemia, Somatic

Leukemia, Acute Myeloid, Somatic

Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

Acute Myeloblastic Leukaemia

Acute Myelogenous Leukaemia

Aml - Acute Myeloid Leukemia

Acute Myeloid Leukemia With Cebpa Somatic Mutations

Aml With Cebpa Somatic Mutations

Inherited Acute Myeloid Leukemia

Familial Aml

Inherited Aml

Pure Familial Aml

Pure Familial Acute Myeloid Leukemia

Secondary Acute Myeloid Leukemia

Therapy-Related Aml And Myelodysplastic Syndrome

Acute Myeloid Leukemia, Secondary

Acute Non-Lymphoblastic Leukemia

Acute Non-Lymphocytic Leukemia

Acute Biphenotypic Leukemia

Acute Undifferentiated Leukemia

Acute Myeloblastic Leukaemia With Multilineage Dysplasia

Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

Acute Myeloid Leukaemia With Myelodysplasia-Related Features
Precursor T-Cell Acute Lymphoblastic Leukemia

T-All

Precursor T-Cell Acute Lymphoblastic Leukemia/Lymphoma

Precursor T-Cell Acute Lymphocytic Leukemia

Precursor T-Cell Acute Lymphocytic Leukemia/Lymphoma

Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

Adult T-Cell Lymphoma/Leukemia
Myeloid Leukemia

Myeloid Leukaemia

Leukaemia Myelogenous

Leukemia Myelogenous

Myeloid Granulocytic Leukaemia

Myeloid Granulocytic Leukemia

Non-Lymphocytic Leukemia

Leukemia, Myeloid

Granulocytic Leukaemia

Myelogenous Leukaemia

Myeloid Leukaemia, Unspecified, Without Mention Of Remission
Leukemia

Leukemias

Leukaemia, Unspecified, Without Mention Of Remission

Aleukemic Leukaemia

Chronic Leukaemia

Subacute Leukaemia

Leukaemia Disorder

Leukaemia Nos
Acute Basophilic Leukemia
Myeloid Leukemia Associated With Down Syndrome
B-Lymphoblastic Leukemia/Lymphoma With Tcf3-Pbx1

B Acute Lymphoblastic Leukemia With T(1

19)(Q23

P13.3)

E2a-Pbx1 (Tcf3-Pbx1)

B-All With Tcf3-Pbx1

B-Lymphoblastic Leukemia/Lymphoma With T(1

19)(Q23

P13.3)

Tcf3-Pbx1
Lethal Congenital Contracture Syndrome 1

LCCS1

Multiple Contracture Syndrome, Finnish Type

Lccs

Lethal Autosomal Recessive Syndrome Of Multiple Congenital Contractures

Lethal Congenital Contracture Syndrome Type 1

Herva Disease

Multiple Contracture Syndrome Finnish Type

Contracture Syndrome, Lethal, Congenital, Type 1
Anterior Horn Cell Disease
Myelodysplastic Syndrome

Myelodysplastic Syndromes

Myelodysplasia

MDS

Myelodysplastic Syndrome Included

Myelodysplastic Syndrome, Susceptibility To, Included

Myelodysplastic Syndrome, Somatic

Myelodysplastic Syndrome, Susceptibility To
Childhood Acute Myeloid Leukemia

Childhood Acute Myeloid Leukaemia

Paediatric Acute Myeloid Leukaemia

Pediatric Acute Myeloid Leukemia
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Lethal Congenital Contracture Syndrome

Lccs

Lethal Congenital Contracture Syndrome 1
Acute Biphenotypic Leukemia

Mixed Phenotype Acute Leukemia

Acute Leukemia Of Ambiguous Lineage

Acute Undifferentiated Leukemia

Acute Leukemia Of Indeterminate Lineage

Hybrid Acute Leukemia

Mixed Lineage Acute Leukemia

All With Myeloid Markers

Aml With Lymphoid Markers

Acute Leukemia Of Undetermined Lineage

Bal

Biphenotypic Acute Leukemia

Undifferentiated Acute Leukemia

Mpal

Acute Myeloid Leukemia, Minimal Differentiation, Fab M0

Leukemia, Biphenotypic, Acute
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS09692 NUP214 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus NUP214 MGD MGI:1095411
Canis familiaris NUP214 VGNC VGNC:44052
Macaca mulatta NUP214 VGNC VGNC:75560
Rattus norvegicus NUP214 RGD RGD:1304977
Bos taurus NUP214 VGNC VGNC:32358
Others NUP214 NCBI
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