NUP214 - nucleoporin 214 Gene

Also Known as CAN; CAIN; IIAE9

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8021

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables nuclear export signal receptor activity	IDA IDA: Inferred from direct assay	10358091	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11545741	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mRNA export from nucleus	IMP IMP: Inferred from mutant phenotype	10557333	GOA
acts upstream of or within protein export from nucleus	IMP IMP: Inferred from mutant phenotype	12191473	GOA
involved in regulation of nucleocytoplasmic transport	IMP IMP: Inferred from mutant phenotype	11000203	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasmic side of nuclear pore	IDA IDA: Inferred from direct assay	8108440	GOA
located in nuclear envelope	IDA IDA: Inferred from direct assay	24315095	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

Protein Preferred Names	Protein Names
nuclear pore complex protein Nup214	CAN protein, putative oncogene

NUP214 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	NUP214	P35658	NUP88	Homo sapiens	Q99567	Anti Tag CoIP	35271311
Intra	NUP214	P35658	NUP88	Homo sapiens	Q99567	Crosslink	30021884

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

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-RS09692	NUP214 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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