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

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
285051
Gene name Gene Name - the full gene name approved by the HGNC.
Sperm-tail PG-rich repeat containing 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
STPG4
Synonyms (NCBI Gene) Gene synonyms aliases
C2orf61, GSE
Chromosome Chromosome number
2
Chromosome location Chromosomal 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.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(17)
GO ID Ontology Definition Evidence Reference
GO:0001939 Component Female pronucleus IBA 21873635
GO:0001939 Component Female pronucleus ISS
GO:0001940 Component Male pronucleus IBA 21873635
GO:0001940 Component Male pronucleus ISS
GO:0003682 Function Chromatin binding IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
Gene Gene ontology Other IDs Protein Associated diseases
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
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name 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