DISEASES

Disease-gene associations mined from literature

Literature associating SPEN and Bartter disease type 3

SPEN [ENSP00000364912]

SMART/HDAC1-associated repressor protein; May serve as a nuclear matrix platform that organizes and integrates transcriptional responses. In osteoblasts, supports transcription activation: synergizes with RUNX2 to enhance FGFR2- mediated activation of the osteocalcin FGF-responsive element (OCFRE) (By similarity). Has also been shown to be an essential corepressor protein, which probably regulates different key pathways such as the Notch pathway. Negative regulator of the Notch pathway via its interaction with RBPSUH, which prevents the association between NOTCH1 and RBPSUH, and therefore suppresses the transactivation activity of Notch signaling. Blocks the differentiation of precursor B-cells into marginal zone B-cells. Probably represses transcription via the recruitment of large complexes containing histone deacetylase proteins. May bind both to DNA and RNA; Belongs to the RRM Spen family.

Synonyms:  SPEN,  F6WRY4,  Q96T58,  SPEN-001,  SPEN-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM