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This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) protein family. This gene spans the FRA16D common chromosomal fragile site and appears to function as a tumor suppressor gene. Expression of the encoded protein is able to induce apoptosis, while defects in this gene are associated with multiple types of cancer. Disruption of this gene is also associated with autosomal recessive spinocerebellar ataxia 12. Disruption of a similar gene in mouse results in impaired steroidogenesis, additionally suggesting a metabolic function for the protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001105 [RNA polymerase II transcription coactivator activity] GO:0001649 [osteoblast differentiation] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0005739 [mitochondrion] GO:0005794 [Golgi apparatus] GO:0005829 [cytosol] GO:0005886 [plasma membrane] GO:0005902 [microvillus] GO:0008152 [metabolic process] GO:0008202 [steroid metabolic process] GO:0016055 [Wnt signaling pathway] GO:0016491 [oxidoreductase activity] GO:0019899 [enzyme binding] GO:0030178 [negative regulation of Wnt signaling pathway] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046983 [protein dimerization activity] GO:0048037 [cofactor binding] GO:0048705 [skeletal system morphogenesis] GO:0050662 [coenzyme binding] GO:0055114 [oxidation-reduction process] GO:0071560 [cellular response to transforming growth factor beta stimulus] GO:0072332 [intrinsic apoptotic signaling pathway by p53 class mediator] GO:0090575 [RNA polymerase II transcription factor complex] GO:0097191 [extrinsic apoptotic signaling pathway] GO:2001238 [positive regulation of extrinsic apoptotic signaling pathway] GO:2001241 [positive regulation of extrinsic apoptotic signaling pathway in absence of ligand]
MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Ezkurdia et al 2014)