STPG4 (sperm-tail PG-rich repeat containing 4)

Gene

• Entrez ID: 285051
• Gene name: Sperm-tail PG-rich repeat containing 4
• Gene symbol: STPG4
• Synonyms (NCBI Gene): C2orf61, GSE
• Chromosome: 2
• Chromosome location: 2p21

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001673	Component	Male germ cell nucleus	IEA
GO:0001674	Component	Female germ cell nucleus	IEA
GO:0001939	Component	Female pronucleus	IBA
GO:0001939	Component	Female pronucleus	IEA
GO:0001939	Component	Female pronucleus	ISS
GO:0001940	Component	Male pronucleus	IBA
GO:0001940	Component	Male pronucleus	IEA
GO:0001940	Component	Male pronucleus	ISS
GO:0003682	Function	Chromatin binding	IBA
GO:0003682	Function	Chromatin binding	IEA
GO:0003682	Function	Chromatin binding	ISS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0006325	Process	Chromatin organization	IEA
GO:0042393	Function	Histone binding	IBA
GO:0042393	Function	Histone binding	IEA
GO:0042585	Component	Germinal vesicle	IBA
GO:0042585	Component	Germinal vesicle	IEA
GO:0042585	Component	Germinal vesicle	ISS
GO:0044727	Process	Epigenetic programing of male pronucleus	IBA
GO:0044727	Process	Epigenetic programing of male pronucleus	IEA
GO:0044727	Process	Epigenetic programing of male pronucleus	ISS
GO:0072529	Process	Pyrimidine-containing compound catabolic process	IEA

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: Q8N801
• Protein name: Protein STPG4 (Gonad-specific expression gene protein) (GSE) (Sperm-tail PG-rich repeat-containing protein 4)
• Protein function: Maternal factor that plays a role in epigenetic chromatin reprogramming during early development of the zygote. Involved in the regulation of gametic DNA demethylation by inducing the conversion of the modified genomic base 5-methylcytosine (5mC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07004	SHIPPO-rpt	176 → 203	Sperm-tail PG-rich repeat	Repeat
  PF07004	SHIPPO-rpt	210 → 239	Sperm-tail PG-rich repeat	Repeat

• Sequence:

  MDQPAVATASTSIREDLVGGESFITASKPAQKTSSFEREGWWRIALTDTPIPGTYHLKTF
  IEESLLNPVIATYNFKNEGRKKPPLVQRNNPVLNDLPQYMPPDFLDLLKKQVATYSFKDK
  PRPSPSTLVDKDQSLQLSPGQYNVLPAPVPKYASRSCVFRSTVQRFPTTYFIPHEGPGPG
  HYNVKMPPTSSVTSCFQSRVPRFLPSCSKTPGPGAYTTLRQFPKQSPTIAKMGQEHSLFF
  NNNNWLLK

• Sequence length: 248

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 DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ 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	23047510, 29751795		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	30796716		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25408372		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	19920108		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	7282774		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30796716		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28340574		★☆☆☆☆ Found in Text Mining only
Congenital atresia of pulmonary valve	Congenital Atresia Of Pulmonary Valve	CLINVAR_DG	26938784		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30544950		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	26134418		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31119182		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31119182		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31470166		★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	26134418		★☆☆☆☆ Found in Text Mining only
Intestinal Atresia	Intestinal Atresia	CLINVAR_DG	26938784		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31750237, 31822654		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25408372		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	19920108		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29751795		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30544950		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	29751795		★☆☆☆☆ Found in Text Mining only
Multiple gastrointestinal atresias (disorder)	Multiple gastrointestinal atresias	CLINVAR_DG	24417819, 26938784		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30638177		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	30638177		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28340574		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	30897181		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	29249121		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	28724602		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	CLINVAR_DG	26938784		★☆☆☆☆ Found in Text Mining only