EAPP Gene - E2F Associated Phosphoprotein
Comprehensive genomic and functional overview of EAPP
Gene Information Card
| Symbol | EAPP |
|---|---|
| Full Name | E2F associated phosphoprotein |
| Gene Type | protein-coding |
| Chromosomal Location | 14q13.1 |
| NCBI Gene ID | 55840 ncbi.nlm.nih.gov/gene/55840 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q56P03 |
| OMIM ID | 609872 |
| HGNC ID | 24677 |
| Aliases | E2FBP1, FLJ10154, MGC138290 |
Description
EAPP (E2F associated phosphoprotein) is a protein-coding gene located on chromosome 14q13.1. It encodes a phosphoprotein that interacts with the E2F transcription factor family, playing a role in cell cycle regulation and apoptosis. EAPP is involved in modulating E2F-dependent transcriptional activity and may influence cellular proliferation and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Dysregulation of E2F pathway via EAPP overexpression or mutation | Limited evidence; COSMIC reports somatic mutations in various cancers |
| No specific Mendelian disease associated | Not established | No OMIM disease entry |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.2 | Low |
| Brain | 6.1 | Low |
| Liver | 4.8 | Low |
| Kidney | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression in embryonic kidney cells |
| HeLa | 10.2 | Moderate expression in cervical cancer cells |
| K562 | 7.5 | Low expression in leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | 0.01% | Unknown |
| c.100C>T | missense | 0.02% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Not established; no confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
Not established; no confirmed gain-of-function variants reported.
Dominant Negative (DN)
Not established; no evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • DNA binding (GO:0003677) | • positive regulation of transcription by RNA polymerase II (GO:0045944) |
Pathways
• E2F transcription factor network
• Cell cycle
Protein Summary
EAPP is a 27 kDa nuclear phosphoprotein that binds to E2F transcription factors. It modulates E2F-dependent transcription, influencing cell cycle progression and apoptosis. The protein contains a nuclear localization signal and is expressed in multiple tissues, with highest levels in testis. Its precise biological role remains under investigation, but it is implicated in cellular growth control.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EAPP Knockout HEK293 Cell Line | EDJ-KQ13244 | Human | 55837 | Details Get a Quote |
| EAPP Knockout A-549 Cell Line | EDJ-KQ42640 | Human | 55837 | Details Get a Quote |
| EAPP Knockout HCT 116 Cell Line | EDJ-KQ42641 | Human | 55837 | Details Get a Quote |
| EAPP Knockout HeLa Cell Line | EDJ-KQ42642 | Human | 55837 | Details Get a Quote |
