Gene Gene information from NCBI Gene database.
Entrez ID 55837
Gene name E2F associated phosphoprotein
Gene symbol EAPP
Synonyms (NCBI Gene)
BM036C14orf11
Chromosome 14
Chromosome location 14q13.1
Summary This gene encodes a phosphoprotein that interacts with several members of the E2F family of proteins. The protein localizes to the nucleus, and is present throughout the cell cycle except during mitosis. It functions to modulate E2F-regulated transcriptio
miRNA miRNA information provided by mirtarbase database.
109
miRTarBase ID miRNA Experiments Reference
MIRT020078 hsa-miR-361-5p Sequencing 20371350
MIRT048911 hsa-miR-93-5p CLASH 23622248
MIRT951217 hsa-miR-101 CLIP-seq
MIRT951218 hsa-miR-1206 CLIP-seq
MIRT951219 hsa-miR-1225-5p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
EGR1 Activation 18588995
SP1 Activation 18588995
SP3 Repression 18588995
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 28514442, 32296183, 33961781
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 15716352
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609486 19312 ENSG00000129518
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q56P03
Protein name E2F-associated phosphoprotein (EAPP)
Protein function May play an important role in the fine-tuning of both major E2F1 activities, the regulation of the cell-cycle and the induction of apoptosis. Promotes S-phase entry, and inhibits p14(ARP) expression.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10238 Eapp_C 138 283 E2F-associated phosphoprotein Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Highest levels in heart, placenta, skeletal muscle and pancreas. Lower levels in brain, lung and kidney. In the brain, expressed in all regions with high levels in the cerebellum and cerebral cortex. Expressed i
Sequence
MNRLPDDYDPYAVEEPSDEEPALSSSEDEVDVLLHGTPDQKRKLIRECLTGESESSSEDE
FEKEMEAELNSTMKTMEDKLSSLGTGSSSGNGKVATAPTRYYDDIYFDSDSEDEDRAVQV
TKKKKKKQHKIPTNDELLYDPEKDNRDQAWVDAQRRGYHGLGPQRSRQQQPVPNSDAVLN
CPACMTTLCLDCQRHESYKTQYRAMFVMNCSINKEEVLRYKASENRKKRRVHKKMRSNRE
DAAEKAETDVEEIYHPVMCTECSTEVAVYDKDEVFHFFNVLAS
HS
Sequence length 285
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Chromosomal Instability Chromosomal instability Pubtator 21572256 Associate
★☆☆☆☆
Found in Text Mining only
Holoprosencephaly Holoprosencephaly BEFREE 15820313
★☆☆☆☆
Found in Text Mining only