SPEG (striated muscle enriched protein kinase)

2016-10-01  

Identity

HGNC
SPEG
LOCATION
2q35
LOCUSID
10290
ALIAS
APEG-1,APEG1,BPEG,CNM5,MYLK6,SPEGalpha,SPEGbeta
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10290
MIM: 615950
HGNC: 16901
Ensembl: ENSG00000072195

Variants:

dbSNP: 10290
ClinVar: 10290
TCGA: ENSG00000072195
COSMIC: SPEG

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000072195ENST00000312358Q15772
ENSG00000072195ENST00000396686Q15772
ENSG00000072195ENST00000396688Q15772
ENSG00000072195ENST00000396689Q15772
ENSG00000072195ENST00000396698B9ZVR7
ENSG00000072195ENST00000403148G5E9J7
ENSG00000072195ENST00000409595H0Y3W0
ENSG00000072195ENST00000420132G5E9J7
ENSG00000072195ENST00000431523C9J8D8
ENSG00000072195ENST00000435853C9JWU5
ENSG00000072195ENST00000451076H7C3Y5
ENSG00000072195ENST00000452101F8WCA7

Expression (GTEx)

0
50
100
150
200
250
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
337946472021Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy.6
347426232021A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation.2
337946472021Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy.6
347426232021A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation.2
316256322020Novel SPEG variant cause centronuclear myopathy in China.10
317903382020Striated muscle-specific serine/threonine-protein kinase beta segregates with high versus low responsiveness to endurance exercise training.10
326838962020Loss of SPEG Inhibitory Phosphorylation of Ryanodine Receptor Type-2 Promotes Atrial Fibrillation.37
329259382020A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy.16
316256322020Novel SPEG variant cause centronuclear myopathy in China.10
317903382020Striated muscle-specific serine/threonine-protein kinase beta segregates with high versus low responsiveness to endurance exercise training.10
326838962020Loss of SPEG Inhibitory Phosphorylation of Ryanodine Receptor Type-2 Promotes Atrial Fibrillation.37
329259382020A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy.16
304122722019Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations.14
304122722019Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations.14
250876132014SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.74

Citation

Dessen P

SPEG (striated muscle enriched protein kinase)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56308/speg-(striated-muscle-enriched-protein-kinase)