MGP Database

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MGP000986

UniProt Annotations

Entry Information
Gene NameEts2 repressor factor
Protein EntryERF_HUMAN
UniProt IDP50548
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P50548-1; Sequence=Displayed; Name=2; IsoId=P50548-2; Sequence=VSP_055487; Note=No experimental confirmation available.;
DiseaseCraniosynostosis 4 (CRS4) [MIM:600775]: A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. {ECO:0000269|PubMed:23354439}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionPotent transcriptional repressor that binds to the H1 element of the Ets2 promoter. May regulate other genes involved in cellular proliferation. Required for extraembryonic ectoderm differentiation, ectoplacental cone cavity closure, and chorioallantoic attachment (By similarity). May be important for regulating trophoblast stem cell differentiation (By similarity). {ECO:0000250}.
PtmPhosphorylated by multiple kinases including MAPK1/ERK2 at THR-526. Phosphorylation regulates the activity of ERF. {ECO:0000269|PubMed:17081983, ECO:0000269|PubMed:18669648, ECO:0000269|PubMed:19690332, ECO:0000269|PubMed:7588608, ECO:0000269|Ref.7}.
Sequence CautionSequence=BAD92508.1; Type=Miscellaneous discrepancy; Note=The sequence differs from that shown because it seems to be derived from a pre-mRNA.; Evidence={ECO:0000305};
SimilarityBelongs to the ETS family. {ECO:0000305}.
SimilarityContains 1 ETS DNA-binding domain. {ECO:0000255|PROSITE-ProRule:PRU00237}.
Subcellular LocationNucleus.
Tissue SpecificityHighest levels in testis, ovary, pancreas, and heart. {ECO:0000269|PubMed:9192842}.
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