NUP214 Chromosome 9
Nucleoporin 214
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What This Gene Does
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]
Gene Info
Gene Group
Nucleoporins
Locus Type
gene with protein product
Location
9q34.13
Ensembl
ENSG00000126883
Associated Conditions (11)
Congenital anomaly of face
Growth delay
Developmental delay
NUP214-related disorder
Encephalopathy
acute
infection-induced
susceptibility to
9
Progressive microcephaly
Recurrent encephalopathy
Key Variants
RS61735510
Conflicting classifications of pathogenicity
Health Risk
RS1135402758
Likely pathogenic
Congenital anomaly of face, Growth delay, Developmental delay
Health Risk
RS143224806
Likely pathogenic
NUP214-related disorder, NUP214-related disorder
Health Risk
RS1834600064
Likely pathogenic
Health Risk
RS2538417680
Likely pathogenic
Encephalopathy, acute, infection-induced
Health Risk
RS563025075
Likely pathogenic
Encephalopathy, acute, infection-induced
Health Risk
RS1210153519
Pathogenic/Likely pathogenic
Encephalopathy, acute, infection-induced
Health Risk
RS143595616
Pathogenic/Likely pathogenic
Progressive microcephaly, Recurrent encephalopathy, Encephalopathy
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS61735510 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1135402758 | Health Risk | Likely pathogenic | Congenital anomaly of face, Growth delay, Developmental delay |
| RS143224806 | Health Risk | Likely pathogenic | NUP214-related disorder, NUP214-related disorder |
| RS1834600064 | Health Risk | Likely pathogenic | — |
| RS2538417680 | Health Risk | Likely pathogenic | Encephalopathy, acute, infection-induced |
| RS563025075 | Health Risk | Likely pathogenic | Encephalopathy, acute, infection-induced |
| RS1210153519 | Health Risk | Pathogenic/Likely pathogenic | Encephalopathy, acute, infection-induced |
| RS143595616 | Health Risk | Pathogenic/Likely pathogenic | Progressive microcephaly, Recurrent encephalopathy, Encephalopathy |