EPN2

epsin 2

Basic information

Region (hg38): 17:19215615-19336715

Links

ENSG00000072134NCBI:22905OMIM:607263HGNC:18639Uniprot:O95208AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the EPN2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EPN2 gene is commonly pathogenic or not.

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.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
21
clinvar
1
clinvar
22
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 21 1 0

Variants in EPN2

This is a list of pathogenic ClinVar variants found in the EPN2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
17-19283124-C-G not specified Uncertain significance (Aug 13, 2021)2244861
17-19283130-C-T not specified Uncertain significance (Oct 06, 2021)2253972
17-19283141-C-T not specified Uncertain significance (May 05, 2023)2544541
17-19283159-G-A not specified Uncertain significance (Dec 21, 2023)3089765
17-19283234-C-A not specified Uncertain significance (Jun 16, 2023)2602584
17-19283289-T-C not specified Uncertain significance (Nov 09, 2023)3089763
17-19283423-G-A not specified Uncertain significance (Nov 17, 2022)2326599
17-19283473-C-G not specified Uncertain significance (Nov 08, 2021)2211558
17-19283489-C-T not specified Uncertain significance (Mar 08, 2024)3089764
17-19285620-C-T not specified Uncertain significance (Jun 10, 2022)2295358
17-19285748-G-T not specified Uncertain significance (Sep 25, 2023)3089766
17-19312122-T-C not specified Uncertain significance (Oct 30, 2023)3089767
17-19313112-C-G not specified Uncertain significance (Dec 28, 2023)3089768
17-19313199-C-T not specified Uncertain significance (Apr 11, 2023)2570551
17-19313253-G-A not specified Uncertain significance (Mar 29, 2023)2531015
17-19313265-C-T not specified Uncertain significance (Jan 10, 2022)2382814
17-19328743-G-T not specified Uncertain significance (Dec 19, 2023)3089762
17-19328846-C-T not specified Uncertain significance (Sep 06, 2022)2217077
17-19329561-G-C not specified Uncertain significance (Apr 01, 2024)3276041
17-19331862-T-A not specified Uncertain significance (Apr 09, 2024)3276042
17-19331981-G-T not specified Uncertain significance (Jan 10, 2023)2475270
17-19334091-T-C not specified Uncertain significance (Feb 23, 2023)2466468
17-19334093-G-A not specified Uncertain significance (Jan 07, 2022)2270700
17-19334114-G-A not specified Likely benign (Apr 04, 2023)2507754
17-19334168-C-T not specified Uncertain significance (Mar 25, 2024)3276043

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
EPN2protein_codingprotein_codingENST00000314728 9121101
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.7480.2521257260221257480.0000875
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.393013770.7990.00002304078
Missense in Polyphen69117.950.584991254
Synonymous1.451411650.8570.00001071380
Loss of Function3.87526.50.1890.00000139277

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00006180.0000615
Ashkenazi Jewish0.000.00
East Asian0.00005850.0000544
Finnish0.000.00
European (Non-Finnish)0.0001080.000105
Middle Eastern0.00005850.0000544
South Asian0.0002300.000229
Other0.0001640.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: Plays a role in the formation of clathrin-coated invaginations and endocytosis. {ECO:0000269|PubMed:10567358}.;
Pathway
Endocytosis - Homo sapiens (human);Vesicle-mediated transport;Membrane Trafficking;Clathrin-mediated endocytosis;EGFR1;Cargo recognition for clathrin-mediated endocytosis (Consensus)

Recessive Scores

pRec
0.102

Intolerance Scores

loftool
0.521
rvis_EVS
-0.38
rvis_percentile_EVS
28.11

Haploinsufficiency Scores

pHI
0.218
hipred
Y
hipred_score
0.651
ghis
0.505

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.756

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Epn2
Phenotype
homeostasis/metabolism phenotype; cellular phenotype; growth/size/body region phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; reproductive system phenotype; neoplasm; embryo phenotype;

Gene ontology

Biological process
endocytosis;negative regulation of vascular endothelial growth factor receptor signaling pathway;positive regulation of Notch signaling pathway;membrane organization;negative regulation of sprouting angiogenesis
Cellular component
cytosol;clathrin coat of endocytic vesicle;intracellular membrane-bounded organelle
Molecular function
protein binding;lipid binding;cadherin binding