1. Gene
  2. NUP214 - nucleoporin 214 Gene

NUP214 - nucleoporin 214 Gene

Homo sapiens

Also known as CAN; CAIN; IIAE9

Gene ID: 8021 | Gene type: protein coding

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
Protein Preferred Names Protein Names

nuclear pore complex protein Nup214

CAN protein, putative oncogene

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

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