ERG
Function
Transcriptional regulator. May participate in transcriptional regulation through the recruitment of SETDB1 histone methyltransferase and subsequent modification of local chromatin structure.
Involvement in disease
Ewing sarcoma
ES
A highly malignant, metastatic, primitive small round cell tumor of bone and soft tissue that affects children and adolescents. It belongs to the Ewing sarcoma family of tumors, a group of morphologically heterogeneous neoplasms that share the same cytogenetic features. They are considered neural tumors derived from cells of the neural crest. Ewing sarcoma represents the less differentiated form of the tumors.
None
The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving ERG has been found in patients with Erwing sarcoma. Translocation t(21;22)(q22;q12) with EWSR1.
Chromosomal aberrations involving ERG have been found in acute myeloid leukemia (AML). Translocation t(16;21)(p11;q22) with FUS (PubMed:8187069). Translocation t(X;21)(q25-26;q22) with ELF4 (PubMed:16303180).
Lymphatic malformation 14
LMPHM14
A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM14 is an autosomal dominant form.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the ETS family.
Cellular localization
- Nucleus
- Cytoplasm
- Localized in cytoplasmic mRNP granules containing untranslated mRNAs.
Alternative names
Transcriptional regulator ERG, Transforming protein ERG, ERG