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Gene Symbol SPECC1L
Synonyms CYTSA | GBBB2 | OBLFC1 | TBHS | TBHS1
Gene Description SPECC1L, sperm antigen with calponin homology and coiled-coil domains 1 like, encodes a coiled-coil domain containing protein that plays a role in cytoskeletal reorganization (PMID: 21703590), regulating PI3K/Akt signaling, adherens junctions proteins (PMID: 26787558), and craniofacial development (PMID: 31943082, PMID: 30472488, PMID: 25357034). SPECC1L fusions have been identified in non-small cell lung cancer (PMID: 32216970), lung adenocarcinoma (PMID: 30683294), uterine cervical sarcoma (PMID: 31917708), and decreased expression has been observed in extra-cranial malignant rhabdoid tumors (PMID: 26977886).
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