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This gene encodes a member of the serine/threonine protein kinase family. This kinase contains a leucine-zipper domain and is predominately expressed in neuronal cells. The phosphorylation state of this kinase in synaptic terminals was shown to be regulated by membrane depolarization via calcineurin. This kinase forms heterodimers with leucine zipper containing transcription factors, such as cAMP responsive element binding protein (CREB) and MYC, and thus may play a regulatory role in PKA or retinoic acid induced neuronal differentiation. Alternatively spliced transcript variants encoding different proteins have been described.[provided by RefSeq, Jul 2010]
MAP3K12 (Mitogen-Activated Protein Kinase Kinase Kinase 12) is a Protein Coding gene. Diseases associated with MAP3K12 include Vitreoretinal Degeneration, Snowflake Type and Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive. Among its related pathways are Signal transduction_JNK pathway and IL-2 Pathway. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein kinase activity. An important paralog of this gene is MAP3K13.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0004672 | protein kinase activity | IEA,TAS | 8637721 |
GO:0004674 | protein serine/threonine kinase activity | ISS | 9353328 |
GO:0004706 | JUN kinase kinase kinase activity | IBA,ISS | -- |
GO:0004709 | MAP kinase kinase kinase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | TAS | 8663324 |
GO:0005829 | cytosol | ISS | -- |
GO:0005886 | plasma membrane | TAS,ISS | -- |
GO:0016020 | membrane | ISS | 9353328 |
GO:0030424 | axon | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | MAPK signaling pathway | ||
2 | Angiopoietin Like Protein 8 Regulatory Pathway | ||
3 | TGF-Beta Pathway |
MAPK Family Pathway
.60
|
|
4 | NFAT and Cardiac Hypertrophy |
NFAT and Cardiac Hypertrophy
.42
|
|
5 | IL-2 Pathway |
PACAP Signaling
.37
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000186 | activation of MAPKK activity | IEA | -- |
GO:0006468 | protein phosphorylation | IEA,ISS | -- |
GO:0007254 | JNK cascade | TAS,ISS | 9353328 |
GO:0007256 | activation of JNKK activity | ISS | -- |
GO:0007257 | activation of JUN kinase activity | ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
fostamatinib | Approved, Investigational | Pharma | Target, inhibitor | Kinase Inhibitors | 0 | |
Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 | ||
URMC-099 | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
Compound | Action | Cas Number |
---|---|---|
URMC-099 | 1229582-33-5 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||||||||||||
SP8: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MAP3K12 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MAP3K12 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MAP3K12 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Map3k12 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Map3k12 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | MAP3K12 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MAP3K12 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MAP3K12 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | map3k12 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | map3k12 30 |
|
||
MAP3K12 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG8789 32 |
|
|
|
wnd 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | dlk-1 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
716174 | Benign: not provided | 53,482,786(-) | C/T | MISSENSE_VARIANT | |
VAR_040705 | A breast pleomorphic lobular carcinoma sample | p.Glu409Lys | |||
rs34366500 | - | p.Gly628Arg | |||
rs55794887 | - | p.Gly640Ser |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1293318 | CNV | deletion | 17803354 |
esv2289574 | CNV | deletion | 18987734 |
esv2745906 | CNV | deletion | 23290073 |
esv2745908 | CNV | deletion | 23290073 |
esv992595 | CNV | deletion | 20482838 |
nsv714 | CNV | insertion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
vitreoretinal degeneration, snowflake type |
|
|
hyperpigmentation with or without hypopigmentation, familial progressive |
|
|
noonan syndrome 1 |
|
|