GeneBe

EPS15

epidermal growth factor receptor pathway substrate 15, the group of EF-hand domain containing

Basic information

Region (hg38): 1:51354263-51519328

Links

ENSG00000085832 ∙ NCBI:2060 ∙ OMIM:600051 ∙ HGNC:3419 ∙ Uniprot:P42566 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the EPS15 gene.

  • not_specified (98 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EPS15 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001981.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
0
missense
97
clinvar
1
clinvar
 98
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 97 1 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
EPS15protein_codingprotein_codingENST00000371733 25165066
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.003480.9971257190281257470.000111
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.7814024490.8960.00002135930
Missense in Polyphen110152.550.721082081
Synonymous0.3691571630.9630.000008471635
Loss of Function4.561448.20.2910.00000214629

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001780.000178
Ashkenazi Jewish0.00009930.0000992
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.0001680.000149
Middle Eastern0.000.00
South Asian0.0001370.000131
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: Involved in cell growth regulation. May be involved in the regulation of mitogenic signals and control of cell proliferation. Involved in the internalization of ligand-inducible receptors of the receptor tyrosine kinase (RTK) type, in particular EGFR. Plays a role in the assembly of clathrin-coated pits (CCPs). Acts as a clathrin adapter required for post-Golgi trafficking. Seems to be involved in CCPs maturation including invagination or budding. Involved in endocytosis of integrin beta- 1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR seems to require association with DAB2. {ECO:0000269|PubMed:16903783, ECO:0000269|PubMed:18362181, ECO:0000269|PubMed:19458185, ECO:0000269|PubMed:22648170}.;
Disease
DISEASE: Note=A chromosomal aberration involving EPS15 is found in acute leukemias. Translocation t(1;11)(p32;q23) with KMT2A/MLL1. The result is a rogue activator protein.;
Pathway
Endocytosis - Homo sapiens (human);VEGFA-VEGFR2 Signaling Pathway;Ebola Virus Pathway on Host;Ebola Virus Pathway on Host;EGF-EGFR Signaling Pathway;Disease;Signal Transduction;Vesicle-mediated transport;endocytotic role of ndk phosphins and dynamin;Membrane Trafficking;Infectious disease;EGFR downregulation;Signaling by EGFR;Clathrin-mediated endocytosis;EGFR1;Cargo recognition for clathrin-mediated endocytosis;Notch signaling pathway;Negative regulation of MET activity;Signaling by MET;Signaling by Receptor Tyrosine Kinases;Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met);Internalization of ErbB1;InlB-mediated entry of Listeria monocytogenes into host cell;Listeria monocytogenes entry into host cells (Consensus)

Recessive Scores

pRec
0.434

Intolerance Scores

loftool
0.667
rvis_EVS
0.47
rvis_percentile_EVS
78.83

Haploinsufficiency Scores

pHI
0.598
hipred
Y
hipred_score
0.731
ghis
0.549

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
K
gene_indispensability_pred
E
gene_indispensability_score
0.704

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Eps15
Phenotype
hematopoietic system phenotype; immune system phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); homeostasis/metabolism phenotype;

Gene ontology

Biological process
positive regulation of receptor recycling;Golgi to endosome transport;epidermal growth factor receptor signaling pathway;cell population proliferation;vesicle organization;receptor-mediated endocytosis of virus by host cell;endocytic recycling;negative regulation of epidermal growth factor receptor signaling pathway;regulation of cell population proliferation;viral entry into host cell;clathrin coat assembly;membrane organization;postsynaptic neurotransmitter receptor internalization
Cellular component
cytosol;plasma membrane;clathrin-coated pit;basal plasma membrane;membrane;aggresome;apical plasma membrane;AP-2 adaptor complex;early endosome membrane;intracellular membrane-bounded organelle;ciliary membrane;postsynapse;glutamatergic synapse
Molecular function
calcium ion binding;protein binding;SH3 domain binding;polyubiquitin modification-dependent protein binding;cargo receptor activity;identical protein binding;cadherin binding