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SIK3 (SIK Family Kinase 3) is a Protein Coding gene. Diseases associated with SIK3 include Spondyloepimetaphyseal Dysplasia, Krakow Type and Mesomelia. Among its related pathways are LKB1 signaling events. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is SIK2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0000287 | magnesium ion binding | IDA | 14976552 |
GO:0004672 | protein kinase activity | IEA | -- |
GO:0004674 | protein serine/threonine kinase activity | IBA,IDA | 14976552 |
GO:0005515 | protein binding | IPI | 16306228 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | LKB1 signaling events |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000226 | microtubule cytoskeleton organization | IBA | 21873635 |
GO:0006468 | protein phosphorylation | IEA,IDA | 14976552 |
GO:0016310 | phosphorylation | IEA | -- |
GO:0035556 | intracellular signal transduction | IBA | 21873635 |
GO:1904263 | positive regulation of TORC1 signaling | IMP | 30232230 |
Compound | Action | Cas Number |
---|---|---|
HG-9-91-01 | Pan-SIK (salt-inducible kinases) inhibitor | 1456858-58-4 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SIK3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SIK3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SIK3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Sik3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Sik3 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | SIK3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SIK3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
OneToMany | |
LOC777317 30 |
|
||||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | SIK3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sik3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | SIK3 31 |
|
OneToOne | |
zgc:66101 30 |
|
||||
zgc66101 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Sik2 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | kin-29 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
723654 | Benign: not provided | 117,098,134(-) | C/A | ||
734267 | Benign: not provided | 116,849,225(-) | C/T | SYNONYMOUS_VARIANT | |
768487 | Benign: not provided | 116,858,173(-) | C/T | MISSENSE_VARIANT | |
776662 | Benign: not provided | 116,858,197(-) | G/A | MISSENSE_VARIANT | |
rs1565460853 | Pathogenic: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE | 116,927,276(-) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2185n54 | CNV | loss | 21841781 |
dgv245e199 | CNV | deletion | 23128226 |
dgv245n67 | CNV | loss | 20364138 |
dgv729n106 | CNV | tandem duplication | 24896259 |
esv1183056 | CNV | insertion | 17803354 |
esv24446 | CNV | loss | 19812545 |
esv2678480 | CNV | deletion | 23128226 |
esv3303435 | CNV | mobile element insertion | 20981092 |
esv3323959 | CNV | insertion | 20981092 |
esv3379224 | CNV | insertion | 20981092 |
esv3548401 | CNV | deletion | 23714750 |
esv3627836 | CNV | loss | 21293372 |
esv3627837 | CNV | loss | 21293372 |
esv3627841 | CNV | loss | 21293372 |
esv3627843 | CNV | loss | 21293372 |
nsv1050142 | CNV | loss | 25217958 |
nsv1136139 | CNV | deletion | 24896259 |
nsv1144595 | CNV | deletion | 24896259 |
nsv507620 | OTHER | sequence alteration | 20534489 |
nsv556451 | CNV | loss | 21841781 |
nsv556454 | CNV | loss | 21841781 |
nsv556455 | CNV | loss | 21841781 |
nsv7223 | OTHER | inversion | 18451855 |
nsv832280 | CNV | gain+loss | 17160897 |
nsv952739 | CNV | duplication | 24416366 |
nsv983064 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spondyloepimetaphyseal dysplasia, krakow type |
|
|
mesomelia |
|
|
metaphyseal chondrodysplasia, jansen type |
|
|
achromatopsia 3 |
|
|
advanced sleep phase syndrome |
|
|