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

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.
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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
HYNVKMPPTSSVTSCFQSRVPRF
LPSCSKTPGPGAYTTLRQFPKQSPTIAKMGQEHSLFF
NNNNWLLK
Sequence length 248
Interactions View interactions
Associated diseases
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

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