Identity
HGNC
LOCATION
12p11.23
LOCUSID
ALIAS
L2,SGT2,hSGT2,hSgt2p
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: 8496
MIM: 603141
HGNC: 9249
Ensembl: ENSG00000110841
Variants:
dbSNP: 8496
ClinVar: 8496
TCGA: ENSG00000110841
COSMIC: PPFIBP1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36527195 | 2023 | A novel homozygous truncating variant in PPFIBP1 further delineates PPFIBP1-associated neurodevelopmental disorder. | 0 |
| 36527195 | 2023 | A novel homozygous truncating variant in PPFIBP1 further delineates PPFIBP1-associated neurodevelopmental disorder. | 0 |
| 34480020 | 2021 | PPFIBP1 induces glioma cell migration and invasion through FAK/Src/JNK signaling pathway. | 15 |
| 34480020 | 2021 | PPFIBP1 induces glioma cell migration and invasion through FAK/Src/JNK signaling pathway. | 15 |
| 26663347 | 2016 | Effects of the scaffold proteins liprin-α1, β1 and β2 on invasion by breast cancer cells. | 18 |
| 26739330 | 2016 | Association of liprin β-1 with kank proteins in melanoma. | 7 |
| 26663347 | 2016 | Effects of the scaffold proteins liprin-α1, β1 and β2 on invasion by breast cancer cells. | 18 |
| 26739330 | 2016 | Association of liprin β-1 with kank proteins in melanoma. | 7 |
| 21430068 | 2011 | Pulmonary inflammatory myofibroblastic tumor expressing a novel fusion, PPFIBP1-ALK: reappraisal of anti-ALK immunohistochemistry as a tool for novel ALK fusion identification. | 33 |
| 21855798 | 2011 | Liprin-mediated large signaling complex organization revealed by the liprin-α/CASK and liprin-α/liprin-β complex structures. | 45 |
| 21430068 | 2011 | Pulmonary inflammatory myofibroblastic tumor expressing a novel fusion, PPFIBP1-ALK: reappraisal of anti-ALK immunohistochemistry as a tool for novel ALK fusion identification. | 33 |
| 21855798 | 2011 | Liprin-mediated large signaling complex organization revealed by the liprin-α/CASK and liprin-α/liprin-β complex structures. | 45 |
| 19965622 | 2010 | Liprin (beta)1 is highly expressed in lymphatic vasculature and is important for lymphatic vessel integrity. | 27 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 19965622 | 2010 | Liprin (beta)1 is highly expressed in lymphatic vasculature and is important for lymphatic vessel integrity. | 27 |
Citation
Dessen P
PPFIBP1 (PPFIA binding protein 1)
Atlas Genet Cytogenet Oncol Haematol. 2003-10-01
Online version: http://atlasgeneticsoncology.org/gene/41798
