Identity
HGNC
LOCATION
15q15.1
LOCUSID
ALIAS
JNKBP-1,JNKBP1,NPHP20
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: 23005
MIM: 616786
HGNC: 29536
Ensembl: ENSG00000137802
Variants:
dbSNP: 23005
ClinVar: 23005
TCGA: ENSG00000137802
COSMIC: MAPKBP1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32505465 | 2020 | Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment. | 3 |
| 32505465 | 2020 | Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment. | 3 |
| 28089251 | 2017 | Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. | 18 |
| 28089251 | 2017 | Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. | 18 |
| 22700971 | 2012 | The c-Jun N-terminal kinase (JNK)-binding protein (JNKBP1) acts as a negative regulator of NOD2 protein signaling by inhibiting its oligomerization process. | 14 |
| 22700971 | 2012 | The c-Jun N-terminal kinase (JNK)-binding protein (JNKBP1) acts as a negative regulator of NOD2 protein signaling by inhibiting its oligomerization process. | 14 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
Citation
Dessen P
MAPKBP1 (mitogen-activated protein kinase binding protein 1)
Atlas Genet Cytogenet Oncol Haematol. 2007-12-01
Online version: http://atlasgeneticsoncology.org/gene/49923/mapkbp1
