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The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK2, is expressed in a variety of tissues with the highest levels in heart and pancreas, and unlike most other members of this family, is localized in the cytoplasm. Mutations in this gene have been associated with congenital hypogonadotropic hypogonadism. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]
DUSP6 (Dual Specificity Phosphatase 6) is a Protein Coding gene. Diseases associated with DUSP6 include Hypogonadotropic Hypogonadism 19 With Or Without Anosmia and Normosmic Congenital Hypogonadotropic Hypogonadism. Among its related pathways are Transcriptional misregulation in cancer and RET signaling. Gene Ontology (GO) annotations related to this gene include phosphatase activity and phosphoprotein phosphatase activity. An important paralog of this gene is DUSP7.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004721 | phosphoprotein phosphatase activity | IEA,IBA | 21873635 |
GO:0004725 | protein tyrosine phosphatase activity | IEA | -- |
GO:0005515 | protein binding | IPI | 12840032 |
GO:0008138 | protein tyrosine/serine/threonine phosphatase activity | IEA,IBA | 21873635 |
GO:0008330 | protein tyrosine/threonine phosphatase activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005737 | cytoplasm | IBA,IDA | 8670865 |
GO:0005829 | cytosol | IDA,TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
.92
|
2 | Activated TLR4 signalling | ||
3 | Nuclear Events (kinase and transcription factor activation) |
.88
|
|
4 | MAPK signaling pathway | ||
5 | MAPK Erk Pathway |
.32
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000165 | MAPK cascade | TAS | -- |
GO:0000187 | activation of MAPK activity | TAS | -- |
GO:0000188 | inactivation of MAPK activity | IEA,IDA | 8670865 |
GO:0001933 | negative regulation of protein phosphorylation | IEA | -- |
GO:0006470 | protein dephosphorylation | IEA,IBA | 21873635 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Phosphate |
|
14066-19-4, 14265-44-2 |
|
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | · | 5d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||
SP3: | |||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DUSP6 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | DUSP6 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DUSP6 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DUSP6 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DUSP6 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Dusp6 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Dusp6 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MKP3 31 |
|
OneToOne | |
DUSP6 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | DUSP6 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dusp6 30 |
|
||
Str.10337 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC68682 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | dusp6 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Mkp3 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | lip-1 31 32 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.5162 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
710023 | Benign: not provided | 89,351,633(-) | C/A | INTRON_VARIANT | |
726479 | Likely Benign: not provided | 89,351,788(-) | G/A | SYNONYMOUS_VARIANT | |
735328 | Benign: not provided | 89,349,443(-) | G/A | SYNONYMOUS_VARIANT | |
741504 | Likely Benign: not provided | 89,349,305(-) | G/A | SYNONYMOUS_VARIANT | |
749814 | Likely Benign: not provided | 89,351,755(-) | C/T | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
hypogonadotropic hypogonadism 19 with or without anosmia |
|
|
normosmic congenital hypogonadotropic hypogonadism |
|
|
kallmann syndrome |
|
|
hypogonadotropic hypogonadism 7 with or without anosmia |
|
|
congenital hypogonadotropic hypogonadism |
|
|