rs12063905
This variant is located in the SPEN gene.
▶ClinVar annotation
SPEN-related disorder; Familial pancreatic carcinoma; Germ cell tumor of testis; Chronic lymphocytic leukemia/small lymphocytic lymphoma; Malignant lymphoma, large B-cell, diffuse; Ovarian cancer; Colorectal cancer; Lymphoma; Thymoma; Nonpapillary renal cell carcinoma; Adrenocortical carcinoma, hereditary
View on ClinVar →About SPEN
This gene encodes a hormone inducible transcriptional repressor. Repression of transcription by this gene product can occur through interactions with other repressors, by the recruitment of proteins involved in histone deacetylation, or through sequestration of transcriptional activators. The product of this gene contains a carboxy-terminal domain that permits binding to other corepressor proteins. This domain also permits interaction with members of the NuRD complex, a nucleosome remodeling protein complex that contains deacetylase activity. In addition, this repressor contains several RNA recognition motifs that confer binding to a steroid receptor RNA coactivator; this binding can modulate the activity of both liganded and nonliganded steroid receptors. [provided by RefSeq, Jul 2008]
View all SPEN variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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