ECRG4 (ECRG4 augurin precursor)

Gene

• Entrez ID: 84417
• Gene name: ECRG4 augurin precursor
• Gene symbol: ECRG4
• Synonyms (NCBI Gene): C2orf40
• Chromosome: 2
• Chromosome location: 2q12.2

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005184	Function	Neuropeptide hormone activity	IGI	20233222
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	17284679, 21349154
GO:0005615	Component	Extracellular space	IEA
GO:0005737	Component	Cytoplasm	IDA	21349154
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0007218	Process	Neuropeptide signaling pathway	IGI	20233222
GO:0007417	Process	Central nervous system development	IBA
GO:0007417	Process	Central nervous system development	ISS	21349154
GO:0008285	Process	Negative regulation of cell population proliferation	ISS	21349154
GO:0009611	Process	Response to wounding	ISS	21349154
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	21349154
GO:0016324	Component	Apical plasma membrane	IEA
GO:0030103	Process	Vasopressin secretion	IGI	20233222
GO:0031045	Component	Dense core granule	IDA	17284679
GO:0031145	Process	Anaphase-promoting complex-dependent catabolic process	IBA
GO:0031145	Process	Anaphase-promoting complex-dependent catabolic process	IEA
GO:0042127	Process	Regulation of cell population proliferation	IBA
GO:0051461	Process	Positive regulation of corticotropin secretion	IGI	20233222
GO:0051466	Process	Positive regulation of corticotropin-releasing hormone secretion	IGI	20233222
GO:0070314	Process	G1 to G0 transition	IBA
GO:0070314	Process	G1 to G0 transition	IEA
GO:0090398	Process	Cellular senescence	IBA
GO:0090398	Process	Cellular senescence	IEA
GO:2000854	Process	Positive regulation of corticosterone secretion	IGI	20233222

Other IDs

• MIM: 611752
• HGNC: 24642
• e!Ensembl: ENSG00000119147

Protein

• UniProt ID: Q9H1Z8
• Protein name: Augurin (Esophageal cancer-related gene 4 protein) (ECRG4)
• Protein function: Probable hormone that may attenuate cell proliferation and induce senescence of oligodendrocyte and neural precursor cells in the central nervous system (By similarity). ECRG4-induced senescence is characterized by G1 arrest, RB1 dephosphorylati
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15187	Augurin	32 → 148	Oesophageal cancer-related gene 4	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the brain, with expression in the epithelial cell layer of the choroid plexus (at protein level). {ECO:0000269|PubMed:21349154}.
• Sequence:

  MAASPARPAVLALTGLALLLLLCWGPGGISGNKLKLMLQKREAPVPTKTKVAVDENKAKE
  FLGSLKRQKRQLWDRTRPEVQQWYQQFLYMGFDEAKFEDDITYWLNRDRNGHEYYGDYYQ
  RHYDEDSAIGPRSPYGFRHGASVNYDDY

• Sequence length: 148

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER'S DISEASE NEUROPATHOLOGIC CHANGE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	27175789		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	34697589	Associate	★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	27796151		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	28578429		★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	29458411		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22110708, 23770814, 26631111, 28410214, 30918105		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22110708, 23770814, 30918105, 34657878	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36696238	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	12800218, 36696238	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26276361	Associate	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	24452533	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	20017917, 22901147		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20017917, 22901147	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	34697589	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	12800218, 22110708, 23957914, 25513848, 27175789, 30745428		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	12800218, 23957914, 25513848, 27175789, 30745428		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	12800218, 20937111, 21288367, 22110708, 26823803, 36696238	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	12800218	Inhibit	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	20937111, 21288367	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	20017917, 20598162		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	20017917	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	20598162	Inhibit	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	26276361	Inhibit	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	26165988	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28927132		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36696238	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26823803	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	34657878	Inhibit	★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	20017917		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22110708, 23770814, 26631111, 28410214, 30918105		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	12435396, 12800218, 23957914, 25513848, 27175789, 30745428		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12800218, 20017917, 23770814, 25513848, 29983418		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	33603109	Stimulate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	25707757, 27119734		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	33099941	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	34657878	Inhibit	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19521989, 20017917, 20598162, 22110708, 22396620, 23770814, 23957914, 26631111, 28410214, 28578429, 29983418		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	25326809		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19229700, 36696238	Associate	★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	29458411		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	12800218, 17786363		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	12800218, 23957914		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	23553029, 34657878	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	25326809	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	27796151	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	32046186	Associate	★☆☆☆☆ Found in Text Mining only