Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
285051 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Sperm-tail PG-rich repeat containing 4 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
STPG4 |
SynonymsGene synonyms aliases
|
C2orf61, GSE |
ChromosomeChromosome number
|
2 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
2p21 |
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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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 |
|
Sequence length |
248 |
Interactions |
View interactions |
Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Multiple gastrointestinal atresias |
Multiple gastrointestinal atresias (disorder) |
rs587776972, rs886037747, rs777469885, rs876657392, rs786205698, rs147914967, rs1057516047, rs1558568116, rs766411601, rs1572849873, rs1297794582, rs773754673, rs1684975294, rs1673619175 |
24417819, 26938784 |
Ventricular septal defect |
Ventricular Septal Defects |
rs104894073, rs387906775 |
26938784 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Congenital atresia of pulmonary valve |
Congenital atresia of pulmonary valve |
|
26938784 |
Intestinal atresia |
Intestinal Atresia |
|
26938784 |
|