Disease-gene associations mined from literature

Literature associating SDCBP and autosomal dominant nonsyndromic deafness 33

SDCBP [ENSP00000260130]

Pro-TGF-alpha cytoplasmic domain-interacting protein 18; Multifunctional adapter protein involved in diverse array of functions including trafficking of transmembrane proteins, neuro and immunomodulation, exosome biogenesis, and tumorigenesis. Positively regulates TGFB1- mediated SMAD2/3 activation and TGFB1-induced epithelial-to- mesenchymal transition (EMT) and cell migration in various cell types. May increase TGFB1 signaling by enhancing cell-surface expression of TGFR1 by preventing the interaction between TGFR1 and CAV1 and subsequent CAV1-dependent internalization and degradation of TGFR1. In concert with SDC1/4 and PDCD6IP, regulates exosome biogenesis. Regulates migration, growth, proliferation, and cell cycle progression in a variety of cancer types. In adherens junctions may function to couple syndecans to cytoskeletal proteins or signaling components. Seems to couple transcription factor SOX4 to the IL-5 receptor (IL5RA). May also play a role in vesicular trafficking. Seems to be required for the targeting of TGFA to the cell surface in the early secretory pathway; PDZ domain containing

Synonyms:  SDCBP,  A0A024R7Z5,  B4DHN5,  E9PBU7,  G5EA09 ...

Linkouts:  STRING  Pharos  UniProt  OMIM