EID2

EP300 interacting inhibitor of differentiation 2

Basic information

Region (hg38): 19:39538707-39540161

Previous symbols: [ "CRI2" ]

Links

ENSG00000176396 ∙ NCBI:163126 ∙ OMIM:609773 ∙ HGNC:28292 ∙ Uniprot:Q8N6I1 ∙ 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 EID2 gene.

• not_specified (30 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EID2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000153232.4. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			29	1		30
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	29	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EID2	protein_coding	protein_coding	ENST00000390658	1	1981

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.296	0.631	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.796	97	122	0.797	0.00000565	1484
Missense in Polyphen		2	4.2259	0.47327		41
Synonymous	0.517	49	53.8	0.910	0.00000257	524
Loss of Function	1.37	1	3.94	0.254	1.79e-7	52

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Interacts with EP300 and acts as a repressor of MYOD- dependent transcription and muscle differentiation. Inhibits EP300 histone acetyltransferase activity. Acts as a repressor of TGFB/SMAD transcriptional responses. May act as a repressor of the TGFB/SMAD3-dependent signaling by selectively blocking formation of TGFB-induced SMAD3-SMAD4 complex. {ECO:0000269|PubMed:12586827, ECO:0000269|PubMed:14585496, ECO:0000269|PubMed:14612439}.
• Pathway: TGF-beta Signaling Pathway;TGF_beta_Receptor (Consensus)

Recessive Scores

• pRec: 0.0973

Intolerance Scores

• rvis_EVS: 0.46
• rvis_percentile_EVS: 78.16

Haploinsufficiency Scores

• pHI: 0.153
• hipred: N
• hipred_score: 0.250

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.741

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Eid2

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;transforming growth factor beta receptor complex assembly;SMAD protein complex assembly;muscle organ development;regulation of transforming growth factor beta receptor signaling pathway;cell differentiation;negative regulation of transforming growth factor beta receptor signaling pathway;regulation of cell population proliferation;negative regulation of transcription, DNA-templated
• Cellular component: nucleus;nucleoplasm
• Molecular function: protein binding;SMAD binding