Identity
HGNC
LOCATION
Xp22.2
LOCUSID
ALIAS
MRX104,PDZD10,PDZK10
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: 9758
MIM: 300838
HGNC: 29007
Ensembl: ENSG00000169933
Variants:
dbSNP: 9758
ClinVar: 9758
TCGA: ENSG00000169933
COSMIC: FRMPD4
RNA/Proteins
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37330374 | 2024 | Investigation of FRMPD4 variants associated with X-linked epilepsy. | 1 |
| 37330374 | 2024 | Investigation of FRMPD4 variants associated with X-linked epilepsy. | 1 |
| 33216857 | 2020 | Structure of the FERM domain of a neural scaffold protein FRMPD4 implicated in X-linked intellectual disability. | 3 |
| 33216857 | 2020 | Structure of the FERM domain of a neural scaffold protein FRMPD4 implicated in X-linked intellectual disability. | 3 |
| 29267967 | 2018 | FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis. | 9 |
| 29267967 | 2018 | FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis. | 9 |
| 26555035 | 2016 | Possibility of a sex-specific role for a genetic variant in FRMPD4 in schizophrenia, but not cognitive function. | 5 |
| 26555035 | 2016 | Possibility of a sex-specific role for a genetic variant in FRMPD4 in schizophrenia, but not cognitive function. | 5 |
| 25664792 | 2015 | Structural basis for the recognition of the scaffold protein Frmpd4/Preso1 by the TPR domain of the adaptor protein LGN. | 7 |
| 25664792 | 2015 | Structural basis for the recognition of the scaffold protein Frmpd4/Preso1 by the TPR domain of the adaptor protein LGN. | 7 |
| 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 |
| 19118189 | 2008 | Preso, a novel PSD-95-interacting FERM and PDZ domain protein that regulates dendritic spine morphogenesis. | 23 |
Citation
Dessen P
FRMPD4 (FERM and PDZ domain containing 4)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/63603/frmpd4-(ferm-and-pdz-domain-containing-4)
