ESRG embryonic stem cell related [Homo sapiens (human)] - Gene

Summary

Official Symbol: ESRGprovided by HGNC
Official Full Name: embryonic stem cell relatedprovided by HGNC
Primary source: HGNC:HGNC:39079
See related: Ensembl:ENSG00000265992 MIM:611473; AllianceGenome:HGNC:39079
Gene type: ncRNA
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HESRG
Summary: Part of nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
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Genomic context

Location:: 3p14.3; 3p14.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (54632124..54639857, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (54666124..54673857, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (54666151..54673884, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ESRG is critical to maintain the cell survival and self-renewal/pluripotency of hPSCs by collaborating with MCM2 to suppress p53 pathway.
Title: ESRG is critical to maintain the cell survival and self-renewal/pluripotency of hPSCs by collaborating with MCM2 to suppress p53 pathway.
The pluripotent stem cell-specific transcript ESRG is dispensable for human pluripotency.
Title: The pluripotent stem cell-specific transcript ESRG is dispensable for human pluripotency.
Data indicate that the embryonic stem cell related gene (ESRG) protein was located in the nuclei of embryonic stem cells (hESCs).
Title: Identification, expression and subcellular localization of ESRG.
HESRG is a novel, sensitive and specific biomarker for intracranial germinoma and embryonal carcinoma.
Title: HESRG: a novel biomarker for intracranial germinoma and embryonal carcinoma.
The above suggested an important role for the novel HESRG gene in supporting the undifferentiated state or self-renewal of hES cells.
Title: Transcriptional profiling of human embryonic stem cells and embryoid bodies identifies HESRG, a novel stem cell gene.

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Phenotypes

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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)

General gene information

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Markers

RH65515 (e-PCR)
- UniSTS:42500

RH65395 (e-PCR)
- UniSTS:84191

Other Names

embryonic stem cell related (non-protein coding)
embryonic stem cell related protein
human embryonic stem cell related

Gene Ontology Provided by GOA

Component	Evidence Code	Pubs
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

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.