ECRG4 ECRG4 augurin precursor [Homo sapiens (human)] - Gene

Summary

Official Symbol: ECRG4provided by HGNC
Official Full Name: ECRG4 augurin precursorprovided by HGNC
Primary source: HGNC:HGNC:24642
See related: Ensembl:ENSG00000119147 MIM:611752; AllianceGenome:HGNC:24642
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: C2orf40
Summary: Enables neuropeptide hormone activity. Involved in neuropeptide signaling pathway; positive regulation of hormone secretion; and vasopressin secretion. Located in apical plasma membrane; dense core granule; and extracellular space. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Broad expression in fat (RPKM 29.6), thyroid (RPKM 20.4) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q12.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (106063241..106078155)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (106524934..106539858)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (106682144..106694611)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

C2orf40 inhibits metastasis and regulates chemo-resistance and radio-resistance of nasopharyngeal carcinoma cells by influencing cell cycle and activating the PI3K/AKT/mTOR signaling pathway.
Title: C2orf40 inhibits metastasis and regulates chemo-resistance and radio-resistance of nasopharyngeal carcinoma cells by influencing cell cycle and activating the PI3K/AKT/mTOR signaling pathway.
Brain endothelial cells-derived extracellular vesicles overexpressing ECRG4 inhibit glioma proliferation through suppressing inflammation and angiogenesis.
Title: Brain endothelial cells-derived extracellular vesicles overexpressing ECRG4 inhibit glioma proliferation through suppressing inflammation and angiogenesis.
MicroRNA-196b promotes gastric cancer progression by targeting ECRG4.
Title: MicroRNA-196b promotes gastric cancer progression by targeting ECRG4.
ECRG4 regulates neutrophil recruitment and CD44 expression during the inflammatory response to injury.
Title: ECRG4 regulates neutrophil recruitment and CD44 expression during the inflammatory response to injury.
Esophageal cancer related gene-4 inhibits the migration and proliferation of oral squamous cell carcinoma through BC200 lncRNA/MMP-9 and -13 signaling pathway.
Title: Esophageal cancer related gene-4 inhibits the migration and proliferation of oral squamous cell carcinoma through BC200 lncRNA/MMP-9 and -13 signaling pathway.
ECRG4 may act as a tumor suppressor, inhibiting proliferation and migration, inducing G0/G1 phase arrest and apoptosis via the mitochondrial apoptotic pathway.
Title: ECRG4 acts as a tumor suppressor gene frequently hypermethylated in human breast cancer.
role of Ecrg4 in the cardiovascular system [review]
Title: Potential functions of esophageal cancer-related gene-4 in the cardiovascular system.
ECRG4 is unique in its cytokine-like functional pattern and epigenetically-regulated gene expression pattern. The gene can be released from the cell membrane upon activation and detected in liquid biopsy, thus offering considerable potential in precision medicine. [review]
Title: ECRG4: a new potential target in precision medicine.
the results help establish that phage display can be used to identify cryptic domains within ORFs of the human secretome and identify a novel TLR4-targeted internalization domain in the amino terminus of ECRG4 that may contribute to its effects on cell migration, immune cell activation and tumor suppression.
Title: Open reading frame mining identifies a TLR4 binding domain in the primary sequence of ECRG4.
we have provided evidence to show that Ecrg4 is constitutively expressed in atria and the conduction systems and is down-regulated in AF.
Title: A Potential Role of Esophageal Cancer Related Gene-4 for Atrial Fibrillation.

Submit: New GeneRIF Correction See all GeneRIFs (42)

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

EBI GWAS Catalog

Description
Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables neuropeptide hormone activity	IGI Inferred from Genetic Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G1 to G0 transition	IBA Inferred from Biological aspect of Ancestor more info
involved_in anaphase-promoting complex-dependent catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular senescence	IBA Inferred from Biological aspect of Ancestor more info
involved_in central nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in central nervous system development	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in neuropeptide signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of corticosterone secretion	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of corticotropin secretion	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of corticotropin-releasing hormone secretion	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to wounding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in vasopressin secretion	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in dense core granule	IDA Inferred from Direct Assay more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: augurin

Names: esophageal cancer related gene 4 protein

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.