Identity
HGNC
LOCATION
9q34.11
LOCUSID
ALIAS
KIAA0169,SANDSTEF,hNup188
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23511
MIM: 615587
HGNC: 17859
Ensembl: ENSG00000095319
Variants:
dbSNP: 23511
ClinVar: 23511
TCGA: ENSG00000095319
COSMIC: NUP188
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000095319 | ENST00000372577 | Q5SRE5 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32211895 | 2020 | Differential turnover of Nup188 controls its levels at centrosomes and role in centriole duplication. | 10 |
| 32275884 | 2020 | Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. | 14 |
| 32211895 | 2020 | Differential turnover of Nup188 controls its levels at centrosomes and role in centriole duplication. | 10 |
| 32275884 | 2020 | Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. | 14 |
| 31527135 | 2019 | Pleiotropic requirements for human TDP-43 in the regulation of cell and organelle homeostasis. | 28 |
| 31527135 | 2019 | Pleiotropic requirements for human TDP-43 in the regulation of cell and organelle homeostasis. | 28 |
| 27593162 | 2016 | Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia. | 65 |
| 27593162 | 2016 | Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia. | 65 |
Citation
Dessen P
NUP188 (nucleoporin 188)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/71040/nup188-(nucleoporin-188)
