Identity
HGNC
LOCATION
Xp11.23
LOCUSID
ALIAS
HB2E,LL0XNC01-7P3.1,R3F
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: 89801
HGNC: 14944
Ensembl: ENSG00000049769
Variants:
dbSNP: 89801
ClinVar: 89801
TCGA: ENSG00000049769
COSMIC: PPP1R3F
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Insulin signaling pathway | KEGG | ko04910 |
| Insulin signaling pathway | KEGG | hsa04910 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37531237 | 2023 | Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features. | 0 |
| 37531237 | 2023 | Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features. | 0 |
| 34145793 | 2021 | Methylation of three genes encoded by X chromosome in blood leukocytes and colorectal cancer risk. | 3 |
| 34145793 | 2021 | Methylation of three genes encoded by X chromosome in blood leukocytes and colorectal cancer risk. | 3 |
| 20479760 | 2011 | Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. | 148 |
| 20479760 | 2011 | Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. | 148 |
| 20398921 | 2010 | Genetic variants harbored in the forkhead box protein 3 locus increase hay fever risk. | 4 |
| 20398921 | 2010 | Genetic variants harbored in the forkhead box protein 3 locus increase hay fever risk. | 4 |
| 8938429 | 1996 | Long-range map of a 3.5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval. | 4 |
| 8938429 | 1996 | Long-range map of a 3.5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval. | 4 |
Citation
Dessen P
PPP1R3F (protein phosphatase 1 regulatory subunit 3F)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/47284/ppp1r3f-(protein-phosphatase-1-regulatory-subunit-3f)
