EPPK1

epiplakin 1, the group of Plakins

Basic information

Region (hg38): 8:143857324-143878467

Links

ENSG00000261150

∙ NCBI:83481 ∙ OMIM:607553 ∙ HGNC:15577 ∙ Uniprot:P58107 ∙ 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 EPPK1 gene.

not_specified (351 variants)
EPPK1-related_disorder (185 variants)
not_provided (24 variants)
EBV-positive_nodal_T-_and_NK-cell_lymphoma (1 variants)
Myoepithelial_tumor (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EPPK1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000031308.4. 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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				112 clinvar	14 clinvar	126
missense			317 clinvar	53 clinvar	27 clinvar	397
nonsense			2 clinvar			2
start loss						0
frameshift			2 clinvar	2 clinvar	3 clinvar	7
splice donor/acceptor (+/-2bp)						0
Total	0	0	321	167	44

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Cytoskeletal linker protein that connects to intermediate filaments and controls their reorganization in response to stress (PubMed:15671067, PubMed:27206504, PubMed:23398049). In response to mechanical stress like wound healing, is associated with the machinery for cellular motility by slowing down keratinocyte migration and proliferation and accelerating keratin bundling in proliferating keratinocytes thus contributing to tissue architecture (PubMed:27206504, PubMed:23398049). However in wound healing in corneal epithelium also positively regulates cell differentiation and proliferation and negatively regulates migration thereby controlling corneal epithelium morphogenesis and integrity. In response to cellular stress, plays a role in keratin filament reorganization, probably by protecting keratin filaments against disruption. During liver and pancreas injuries, plays a protective role by chaperoning disease-induced intermediate filament reorganization (By similarity). {ECO:0000250|UniProtKB:Q8R0W0, ECO:0000269|PubMed:15671067, ECO:0000269|PubMed:23398049, ECO:0000269|PubMed:27206504}.;
Pathway: EGFR1 (Consensus)

Haploinsufficiency Scores

pHI
hipred: N
hipred_score: 0.146
ghis: 0.398

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2: S
essential_gene_gene_trap
gene_indispensability_pred: E
gene_indispensability_score: 0.539

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

Gene name: Eppk1
Phenotype: normal phenotype; homeostasis/metabolism phenotype; cellular 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);

Gene ontology

Biological process: negative regulation of keratinocyte proliferation;negative regulation of cell migration;wound healing;intermediate filament cytoskeleton organization;intermediate filament organization;intermediate filament bundle assembly;negative regulation of epithelial cell proliferation;negative regulation of keratinocyte migration;negative regulation of wound healing;regulation of epithelium regeneration
Cellular component: cytoplasm;cytoskeleton;intermediate filament;bicellular tight junction;membrane;basolateral plasma membrane;apicolateral plasma membrane;hemidesmosome;cell projection;keratin filament;cell periphery;perinucleolar compartment
Molecular function: RNA binding;structural molecule activity;cytoskeletal protein binding;intermediate filament binding;keratin filament binding