DISEASES

Disease-gene associations mined from literature

Literature associating TSPYL2 and syndromic X-linked intellectual disability Najm type

TSPYL2 [ENSP00000364591]

Differentially-expressed nucleolar TGF-beta1 target protein; Part of the CASK/TBR1/TSPYL2 transcriptional complex which modulates gene expression in response to neuronal synaptic activity, probably by facilitating nucleosome assembly. May inhibit cell proliferation by inducing p53-dependent CDKN1A expression.

Synonyms:  TSPYL2,  TSPYL2p,  hTSPYL2,  J3KS33,  Q9H2G4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM