EPOP

elongin BC and polycomb repressive complex 2 associated protein

Basic information

Region (hg38): 17:38671703-38674957

Previous symbols: [ "C17orf96" ]

Links

ENSG00000273604 ∙ NCBI:100170841 ∙ OMIM:617795 ∙ HGNC:34493 ∙ Uniprot:A6NHQ4 ∙ 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 EPOP gene.

• not_specified (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EPOP gene is commonly pathogenic or not. These statistics are base on transcript: NM_001130677.2. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			4			4
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	4	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Scaffold protein that serves as a bridging partner between the PRC2/EED-EZH2 complex and the elongin BC complex: required to fine-tune the transcriptional status of Polycomb group (PcG) target genes in embryonic stem cells (ESCs). Plays a key role in genomic regions that display both active and repressive chromatin properties in pluripotent stem cells by sustaining low level expression at PcG target genes: acts by recruiting the elongin BC complex, thereby restricting excessive activity of the PRC2/EED-EZH2 complex. Interaction with USP7 promotes deubiquitination of H2B at promoter sites. Acts as a regulator of neuronal differentiation. {ECO:0000250|UniProtKB:Q7TNS8}.

Mouse Genome Informatics

• Gene name: Epop

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;histone H2B conserved C-terminal lysine deubiquitination;neuron fate commitment;stem cell differentiation
• Cellular component: chromosome;ESC/E(Z) complex;elongin complex
• Molecular function: chromatin binding