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This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region. Mutations in this gene are associated with centronuclear myopathy 5. [provided by RefSeq, Jun 2016]
SPEG (Striated Muscle Enriched Protein Kinase) is a Protein Coding gene. Diseases associated with SPEG include Myopathy, Centronuclear, 5 and Myopathy, Centronuclear, 2. 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 OBSCN.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004672 | protein kinase activity | IBA | 21873635 |
GO:0004674 | protein serine/threonine kinase activity | IEA | -- |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0005524 | ATP binding | IEA | -- |
GO:0016301 | kinase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | TAS,IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006468 | protein phosphorylation | IEA | -- |
GO:0007517 | muscle organ development | TAS | 8663449 |
GO:0008285 | negative regulation of cell proliferation | TAS | 8663449 |
GO:0016310 | phosphorylation | IEA | -- |
GO:0030154 | cell differentiation | IEA | -- |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | SPEG 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | SPEG 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | SPEG 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Speg 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Speg 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | SPEG 33 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | -- 33 |
|
ManyToMany | |
chicken (Gallus gallus) |
Aves | SPEG 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | SPEG 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | speg 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | si:ch211-195m20.1 32 |
|
||
SPEG (1 of 2) 33 |
|
OneToMany | |||
speg 33 |
|
OneToMany | |||
worm (Caenorhabditis elegans) |
Secernentea | unc-22 33 |
|
OneToMany | |
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MEK1 33 |
|
OneToMany |
SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs10755037 | benign, not specified, - | 219,484,029(+) | C/A/G/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
rs12464085 | benign, not specified, - | 219,490,807(+) | A/G | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
rs566841339 | A gastric adenocarcinoma sample | 219,489,128(+) | G/A | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
rs587777672 | pathogenic, Myopathy, centronuclear, 5 | 219,484,160(+) | C/A/G/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, stop_gained | |
rs587777673 | pathogenic, Myopathy, centronuclear, 5 | 219,473,732(+) | C/G/T | 5_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant, stop_gained |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2721485 | CNV | deletion | 23290073 |
esv2721486 | CNV | deletion | 23290073 |
esv3026745 | CNV | deletion | 24192839 |
nsv1071648 | CNV | deletion | 25765185 |
nsv1112778 | CNV | deletion | 24896259 |
nsv1136473 | CNV | deletion | 24896259 |
nsv1150236 | CNV | deletion | 26484159 |
nsv213401 | CNV | deletion | 16902084 |
nsv470518 | CNV | loss | 18288195 |
nsv508886 | CNV | insertion | 20534489 |
nsv520958 | CNV | loss | 19592680 |
nsv584502 | CNV | gain | 21841781 |
nsv834544 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
myopathy, centronuclear, 5 |
|
|
myopathy, centronuclear, 2 |
|
|
centronuclear myopathy |
|
|
scarlet fever |
|
|
corneal dystrophy, subepithelial mucinous |
|
|