ETS domain-containing transcription factor ERF

Potent 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).

Craniosynostosis 4

CRS4

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Chitayat syndrome

CHYTS

An autosomal dominant syndrome characterized by hyperphalangism, partial syndactyly, bilateral accessory phalanx resulting in shortened index fingers, hallux valgus, brachydactyly, facial anomalies, diffuse bronchomalacia, and respiratory distress at birth and in infancy.

None

The disease is caused by variants affecting the gene represented in this entry.

Phosphorylated by multiple kinases including MAPK1/ERK2 at THR-526. Phosphorylation regulates the activity of ERF.

Belongs to the ETS family.

Highest levels in testis, ovary, pancreas, and heart.

• Nucleus

ETS domain-containing transcription factor ERF, Ets2 repressor factor, PE-2, ERF

• entrezGene:2077
• omim:611888
• swissprot:P50548

Proteins

Oncology

58703Da