Details for Gene PSMD2

GENE NAME PSMD2
CHROMOSOME 3
ENSEMBL ID None
ENTREZ ID ENSG00000175166
UNIPROT ACCESSION NUMBER Q13200
GO MOLECULAR FUNCTION ['enzyme regulator activity', 'protein binding']
ESSENTIAL IN MOUSE None
PATHWAYS hsa03050; hsa05010; hsa05012; hsa05014; hsa05016; hsa05017; hsa05020; hsa05022; hsa05169; R-HSA-109581; R-HSA-1168372; R-HSA-1169091; R-HSA-1234174; R-HSA-1234176; R-HSA-1236974; R-HSA-1236975; R-HSA-1236978; R-HSA-1257604; R-HSA-1266738; R-HSA-1280215; R-HSA-1280218; R-HSA-1430728; R-HSA-157118; R-HSA-162582; R-HSA-162906; R-HSA-162909; R-HSA-1640170; R-HSA-1643685; R-HSA-168249; R-HSA-168256; R-HSA-169911; R-HSA-174084; R-HSA-174113; R-HSA-174143; R-HSA-174154; R-HSA-174178; R-HSA-174184; R-HSA-176408; R-HSA-176409; R-HSA-176814; R-HSA-179419; R-HSA-180534; R-HSA-180585; R-HSA-187577; R-HSA-195253; R-HSA-195721; R-HSA-201681; R-HSA-202403; R-HSA-202424; R-HSA-211733; R-HSA-212436; R-HSA-2262752; R-HSA-2454202; R-HSA-2467813; R-HSA-2555396; R-HSA-2871837; R-HSA-349425; R-HSA-350562; R-HSA-351202; R-HSA-376176; R-HSA-382551; R-HSA-382556; R-HSA-3858494; R-HSA-392499; R-HSA-4086400; R-HSA-422475; R-HSA-446652; R-HSA-449147; R-HSA-450408; R-HSA-450531; R-HSA-453274; R-HSA-453276; R-HSA-453279; R-HSA-4608870; R-HSA-4641257; R-HSA-4641258; R-HSA-5357801; R-HSA-5358346; R-HSA-5358351; R-HSA-5362768; R-HSA-5387390; R-HSA-5607761; R-HSA-5607764; R-HSA-5610780; R-HSA-5610783; R-HSA-5610785; R-HSA-5610787; R-HSA-5619084; R-HSA-5619115; R-HSA-5621481; R-HSA-5632684; R-HSA-5658442; R-HSA-5663202; R-HSA-5663205; R-HSA-5668541; R-HSA-5673001; R-HSA-5676590; R-HSA-5678895; R-HSA-5683057; R-HSA-5684996; R-HSA-5687128; R-HSA-5688426; R-HSA-5689603; R-HSA-5689880; R-HSA-597592; R-HSA-6798695; R-HSA-6807070; R-HSA-68827; R-HSA-68867; R-HSA-68882; R-HSA-68886; R-HSA-68949; R-HSA-69002; R-HSA-69017; R-HSA-69052; R-HSA-69202; R-HSA-69206; R-HSA-69239; R-HSA-69242; R-HSA-69275; R-HSA-69278; R-HSA-69306; R-HSA-69481; R-HSA-69541; R-HSA-69563; R-HSA-69580; R-HSA-69601; R-HSA-69610; R-HSA-69613; R-HSA-69615; R-HSA-69620; R-HSA-69656; R-HSA-71291; R-HSA-73857; R-HSA-74160; R-HSA-75815; R-HSA-8852276; R-HSA-8854050; R-HSA-8878159; R-HSA-8878166; R-HSA-8878171; R-HSA-8939236; R-HSA-8939902; R-HSA-8941858; R-HSA-8948751; R-HSA-8951664; R-HSA-8953854; R-HSA-8953897; R-HSA-9006925; R-HSA-9010553; R-HSA-9013694; R-HSA-9020702; R-HSA-9604323; R-HSA-9675108; R-HSA-983168; R-HSA-983169; R-HSA-983705
1 combination linked to PSMD2 OLI1491
1 variant linked to PSMD2 PSMD2:c.952A>G, p.Thr318Ala
1 disease linked to PSMD2 Congenital hypothyroidism
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