EID2 EP300 interacting inhibitor of differentiation 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EID2provided by HGNC
Official Full Name: EP300 interacting inhibitor of differentiation 2provided by HGNC
Primary source: HGNC:HGNC:28292
See related: Ensembl:ENSG00000176396 MIM:609773; AllianceGenome:HGNC:28292
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CRI2; EID-2
Summary: Enables SMAD binding activity. Involved in several processes, including negative regulation of transcription, DNA-templated; negative regulation of transforming growth factor beta receptor signaling pathway; and transmembrane receptor protein serine/threonine kinase signaling pathway. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: mouse all
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Genomic context

Location:: 19q13.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (39538707..39540161, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (42342965..42344419, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (40029347..40030801, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

EID-2 may function as an endogenous suppressor of TGF-beta signaling
Title: A novel E1A-like inhibitor of differentiation (EID) family member, EID-2, suppresses transforming growth factor (TGF)-beta signaling by blocking TGF-beta-induced formation of Smad3-Smad4 complexes.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH91348 (e-PCR)
- UniSTS:86814

STS-N99910 (e-PCR)
- UniSTS:72633

SHGC-37129 (e-PCR)
- UniSTS:79330

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SMAD binding	IDA Inferred from Direct Assay more info	PubMed
enables SMAD binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription corepressor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in muscle organ development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of SMAD protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in transforming growth factor beta receptor complex assembly	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: EP300-interacting inhibitor of differentiation 2

Names: CREBBP/EP300 inhibitor 2; CREBBP/EP300 inhibitory protein 2; E1A like inhibitor of differentiation 2; EID-1-like inhibitor of differentiation 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.