Ezh2 [Search on AGR]
Rattus norvegicus Enables chromatin binding activity and transcription cis-regulatory region binding activity. Involved in several processes, including GABAergic synaptic transmission; negative regulation of macromolecule biosynthetic process; and positive regulation of dendrite development. Predicted to be located in chromosome, telomeric region; nucleoplasm; and pronucleus. Predicted to be part of ESC/E(Z) complex; chromatin silencing complex; and pericentric heterochromatin. Predicted to be active in chromosome and nucleus. Used to study endometriosis. Biomarker of leiomyoma; metabolic dysfunction-associated steatotic liver disease; and pancreatic cancer. Human ortholog(s) of this gene implicated in several diseases, including Weaver syndrome; gastrointestinal system cancer (multiple); glioblastoma; hematologic cancer (multiple); and renal Wilms' tumor. Orthologous to human EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit); PARTICIPATES IN histone modification pathway; methionine cycle/metabolic pathway; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 6-propyl-2-thiouracil.
Nsd1 [Search on AGR]
Homo sapiens This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Sep 2018]