Details for Gene DUSP6

GENE NAME DUSP6
CHROMOSOME 12
ENSEMBL ID None
ENTREZ ID ENSG00000139318
UNIPROT ACCESSION NUMBER Q16828
GO MOLECULAR FUNCTION ['MAP kinase tyrosine/serine/threonine phosphatase activity', 'protein tyrosine phosphatase activity', 'phosphoprotein phosphatase activity', 'protein tyrosine/threonine phosphatase activity', 'protein binding', 'protein tyrosine/serine/threonine phosphatase activity', 'protein serine/threonine phosphatase activity']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04010; hsa05202; hsa05221; hsa04010; hsa05202; hsa05221; R-HSA-112409; R-HSA-1280215; R-HSA-162582; R-HSA-1643685; R-HSA-166016; R-HSA-166058; R-HSA-166166; R-HSA-166520; R-HSA-168138; R-HSA-168142; R-HSA-168164; R-HSA-168176; R-HSA-168179; R-HSA-168181; R-HSA-168188; R-HSA-168249; R-HSA-168256; R-HSA-168898; R-HSA-181438; R-HSA-187037; R-HSA-198725; R-HSA-198753; R-HSA-202670; R-HSA-448424; R-HSA-449147; R-HSA-450282; R-HSA-450294; R-HSA-5663202; R-HSA-5673001; R-HSA-5675221; R-HSA-5683057; R-HSA-5684996; R-HSA-6802957; R-HSA-9006934; R-HSA-937061; R-HSA-9652817; R-HSA-975138; R-HSA-975155; R-HSA-975871
6 combinations linked to DUSP6 OLI353; OLI1214; OLI368; OLI1539; OLI370; OLI369
6 variants linked to DUSP6 DUSP6:p.Asn355Ile; DUSP6:c.545C>T, p.Ser182Phe; DUSP6:c.566A>G, p.Asn189Ser; DUSP6:c.1037C>T, p.Thr346Met; DUSP6:c.340G>T, ; DUSP6:c.279C>G, p.Asp93Glu
3 diseases linked to DUSP6 Normosmic congenital hypogonadotropic hypogonadism; 46,XY disorder of sex development; Kallmann syndrome
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