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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] See more...
Aliases for SPEG Gene
Aliases for SPEG Gene
External Ids for SPEG Gene
- HGNC: 16901
- Entrez Gene: 10290
- Ensembl: ENSG00000072195
- OMIM: 615950
- UniProtKB: Q15772
Previous HGNC Symbols for SPEG Gene
- APEG1
Previous GeneCards Identifiers for SPEG Gene
- GC02P220007
- GC02P220299
- GC02P212152
Summaries for SPEG Gene
-
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]
GeneCards Summary for SPEG Gene
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 HMCN1.
UniProtKB/Swiss-Prot Summary for SPEG Gene
-
Isoform 3 may have a role in regulating the growth and differentiation of arterial smooth muscle cells.
Additional gene information for SPEG Gene
- HGNC(16901)
- Entrez Gene(10290)
- Ensembl(ENSG00000072195)
- OMIM(615950)
- UniProtKB(Q15772)
- Open Targets Platform(ENSG00000072195)
- Monarch Initiative
- Search for SPEG at DataMed
- Search for SPEG at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SPEG Gene
Genomics for SPEG Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SPEG Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SPEG on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPEG
- Top Transcription factor binding sites by QIAGEN in the SPEG gene promoter:
-
- AP-1
- MyoD
- p53
- TBP
Genomic Locations for SPEG Gene
Genomic Locations for SPEG Gene
- chr2:219,434,215-219,493,629
- (GRCh38/hg38)
- Size:
- 59,415 bases
- Orientation:
- Plus strand
- chr2:220,299,568-220,363,009
- (GRCh37/hg19)
- Size:
- 63,442 bases
- Orientation:
- Plus strand
Genomic View for SPEG Gene
Genes around SPEG on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q35 by HGNC
- 2q35 by Entrez Gene
- 2q35 by Ensembl
SPEG Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SPEG Gene
Proteins for SPEG Gene
-
Protein details for SPEG Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q15772-SPEG_HUMAN
- Recommended name:
- Striated muscle preferentially expressed protein kinase
- Protein Accession:
- Q15772
- A8K0G6
- A8MRU0
- Q27J74
- Q695L1
- Q6FGA6
- Q6ZQW1
- Q6ZTL8
- Q9P2P9
Protein attributes for SPEG Gene
- Size:
- 3267 amino acids
- Molecular mass:
- 354289 Da
- Quaternary structure:
-
- Interacts with MTM1. Isoform 3 is found as a monomer or homodimer.
- SequenceCaution:
-
- Sequence=AAY15052.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=ABD61734.1; Type=Frameshift; Evidence={ECO:0000305};
- Miscellaneous:
-
- Expression is under the tight control of the locus control region (LCRs).
- [Isoform 3]: Produced by alternative promoter usage.
- [Isoform 1]: Produced by alternative splicing.
Protein Expression for SPEG Gene
Selected DME Specific Peptides for SPEG Gene
- Q15772:
-
- GAPLEIP
- APEIVNQSP
- AARFDCKI
- LEKMPSIPEEPE
- SVPRPLQPE
- LHEAYITPRYLVLI
- SGLRGPLLE
- LEAPVFEI
- YTCKAVN
- VSCKAEL
- DFPPVFHI
- GTPEFVAPE
- KLRRQTLTFTT
- GKAACYAHLYV
- NIRNYNVAFEE
Post-translational modifications for SPEG Gene
- May be autophosphorylated.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for SPEG Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Rabbit Anti-Human SPEG Polyclonal Antibody
- Creative Biolabs Recombinant Mouse Anti-Human SPEG Antibody
- Novus Biologicals Antibodies for SPEG
-
Abcam antibodies for SPEG
- Invitrogen Antibodies for SPEG (AFLGC-SPEG)
- antibodies-online: Show 4 available SPEG Antibodies ranked by validation data
- Compare Top SPEG Antibodies
-
Quality Products:
-
Boster Bio Antibodies for SPEG
- Sino Biological Antibodies for SPEG
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SPEG
- Origene Custom Protein Services for SPEG
- Sino Biological Recombinant Proteins for SPEG
- Browse Sino Biological Cell Lysates
- antibodies-online: Show 4 available SPEG Proteins ranked by validation data
- Compare Top SPEG Proteins
-
Quality Products:
-
Signalway Proteins for SPEG
-
Abcam proteins for SPEG
Assay Products
- Creative Diagnostics Human SPEG ELISA Matched Antibody Pair
- antibodies-online: Search results for available SPEG related products ranked by validation data
Domains & Families for SPEG Gene
Gene Families for SPEG Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for SPEG Gene
- InterPro:
- Blocks:
-
- Immunoglobulin C-2 type
- Immunoglobulin I-set
- ProtoNet:
Suggested Antigen Peptide Sequences for SPEG Gene
- GenScript: Design optimal peptide antigens:
-
- Aortic preferentially expressed protein 1 (SPEG_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q15772UniProtKB/Swiss-Prot:
SPEG_HUMAN :- Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
- Family:
-
- Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
Function for SPEG Gene
Molecular function for SPEG Gene
- UniProtKB/Swiss-Prot Function:
- Isoform 3 may have a role in regulating the growth and differentiation of arterial smooth muscle cells.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1;.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1;.
- UniProtKB/Swiss-Prot Induction:
- Isoform 3 is quickly down-regulated in response to vascular injury, when ASMC cells change from a quiescent to a proliferative phenotype.
Enzyme Numbers (IUBMB) for SPEG Gene
Phenotypes From GWAS Catalog for SPEG Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| 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 | -- |
Phenotypes for SPEG Gene
- MGI mutant phenotypes for SPEG:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for SPEG:
-
- Increased vaccinia virus (VACV) infection
- Large nuclei
- no effect
- shRNA abundance <= 25%
- Proliferating cells
- Increased hepcidin::fluc mRNA expression
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Decreased substrate adherent cell growth
- Increased simian virus 40 (SV40) infection
- Decreased human cytomegalovirus (HCMV) strain AD169 replication
- Decreased viability
- Decreased Hepatitis C Virus pseudoparticles (HCVpp; H77; genotype 1a) infection
- Decreased cell–culture–derived Hepatitis C virus (HCVcc; Luc–Jc1) infection
Animal Model Products
-
Taconic Biosciences Mouse Models for SPEG
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SPEG - Select products 50% OFF >
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-
OriGene CRISPR knockouts for SPEG
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SPEG
-
Santa Cruz Biotechnology (SCBT) CRISPR for SPEG
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SPEG
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Clone Products
- Applied Biological Materials (abm): Clones for SPEG - Select products 50% OFF >
- * SPEG as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SPEG
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SPEG
No data available for miRNA , Transcription Factor Targets and HOMER Transcription for SPEG Gene
Localization for SPEG Gene
Subcellular locations from UniProtKB/Swiss-Prot for SPEG Gene
- [Isoform 3]: Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| plasma membrane | 4 |
| cytosol | 3 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endosome | 2 |
| lysosome | 2 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | TAS,IEA | -- |
Pathways & Interactions for SPEG Gene
Interacting Proteins for SPEG Gene
Selected Interacting proteins:
Q15772-SPEG_HUMAN
ENSP00000311684
for SPEG Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for SPEG
| 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 | -- |
No data available for Pathways by source and SIGNOR curated interactions for SPEG Gene
Transcripts for SPEG Gene
mRNA/cDNA for SPEG Gene
- 2 REFSEQ mRNAs :
- 16 NCBI additional mRNA sequence :
- 22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000312358 10782 nts (view in UCSC)
- ENST00000396686 1086 nts (view in UCSC)
- ENST00000396688 1457 nts (view in UCSC)
- ENST00000396689 1274 nts (view in UCSC)
- ENST00000396698 3379 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SPEG - Select products 50% OFF >
- * SPEG CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SPEG
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SPEG
-
Santa Cruz Biotechnology (SCBT) CRISPR for SPEG
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SPEG
- Browse OriGene Inhibitory RNA Products For SPEG
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPEG
Clone Products
- Applied Biological Materials (abm): Clones for SPEG - Select products 50% OFF >
- * SPEG as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SPEG
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SPEG
Relevant External Links for SPEG Gene
- GeneLoc Exon Structure for
- SPEG
Expression for SPEG Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Epiblast (Early Embryonic Tissues)
-
Hair (Integumentary System)
- Outer Root Sheath Cells Outer Root Sheath
-
Epithelial Cells
- Outer Root Sheath Cells Outer Root Sheath
-
Limb (Muscoskeletal System)
- Limb Muscle Progenitor Cells Forelimb Myotome
-
Skeletal Muscle (Muscoskeletal System)
- Limb Muscle Progenitor Cells Forelimb Myotome
- Smooth Muscle (Muscoskeletal System)
- Germ Cells (Reproductive System)
- Gonad
-
Uterus (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for SPEG Gene
This gene is overexpressed in Artery - Tibial (x4.9), Muscle - Skeletal (x4.8), Artery - Aorta (x4.8), and Colon - Sigmoid (x4.0).
This gene is overexpressed in Ovary (28.0) and Heart (6.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SPEG Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SPEG
SOURCE GeneReport for Unigene cluster for SPEG Gene:
Hs.21639mRNA Expression by UniProt/SwissProt for SPEG Gene:
Q15772-SPEG_HUMAN
Tissue specificity:
Isoform 1 is preferentially expressed in striated muscle. Non-kinase form such as isoform 3 is predominantly expressed in the aorta. Isoform 3 appears to be expressed only in highly differentiated ASMC in normal vessel walls and down-regulated in dedifferentiated ASMC in vivo. In response to vascular injuries ASMC dedifferentiate and change from a quiescent and contractile phenotype to a proliferative and synthetic phenotype. This proliferation of vascular smooth muscle cells is one of the most prominent features of atherosclerosis.
Evidence on tissue expression from TISSUES for SPEG Gene
- Nervous system(4.8)
- Muscle(3.7)
- Heart(2.6)
- Blood(2.3)
- Intestine(2.2)
- Skin(2.1)
- Liver(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SPEG Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- jaw
- larynx
- lip
- mandible
- maxilla
- mouth
- neck
- skull
- vocal cord
Thorax:
- heart
- heart valve
- lung
- rib
- rib cage
Pelvis:
- pelvis
Limb:
- ankle
- arm
- digit
- elbow
- femur
- finger
- foot
- forearm
- hand
- hip
- knee
- lower limb
- shin
- shoulder
- thigh
- toe
- upper limb
- wrist
General:
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for SPEG
-
OriGene qPCR primer pairs and template standards for SPEG
Gene Expression Assay Products
No data available for Protein tissue co-expression partners for SPEG Gene
Orthologs for SPEG Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SPEG 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SPEG 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SPEG 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Speg 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Speg 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | SPEG 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
| Chicken (Gallus gallus) |
Aves | SPEG 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SPEG 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | speg 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | si:ch211-195m20.1 30 |
|
||
| SPEG (1 of 2) 31 |
|
OneToMany | |||
| speg 31 |
|
OneToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | unc-22 31 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MEK1 31 |
|
OneToMany |
- Species where no ortholog for SPEG was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for SPEG Gene
- ENSEMBL:
- Gene Tree for SPEG (if available)
- TreeFam:
- Gene Tree for SPEG (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SPEG: view image
Paralogs for SPEG Gene
(20) SIMAP similar genes for SPEG Gene using alignment to 10 proteins:
- SPEG_HUMAN
- B9A038_HUMAN
- B9ZVR7_HUMAN
- C9J8D8_HUMAN
- C9JWU5_HUMAN
- F8WCA7_HUMAN
- G5E9J7_HUMAN
- H0Y3W0_HUMAN
- H7BZM6_HUMAN
- H7C3Y5_HUMAN
Variants for SPEG Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPEG Gene
| SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 638484 | Uncertain Significance: Myopathy, centronuclear, 5 | 219,484,725(+) | C/T | MISSENSE_VARIANT | |
| 709208 | Benign: not provided | 219,478,006(+) | G/T | MISSENSE_VARIANT | |
| 709634 | Benign: not provided | 219,464,586(+) | C/T | SYNONYMOUS_VARIANT | |
| 709635 | Likely Benign: not provided | 219,478,077(+) | C/G | MISSENSE_VARIANT | |
| 710315 | Benign: not provided | 219,468,865(+) | C/T | MISSENSE_VARIANT |
| 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 |
Residual Variation Intolerance Score:
26.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
20.31;
99.07% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SPEG Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPEG Gene
Disorders for SPEG Gene
(12) MalaCards diseases for SPEG Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myopathy, centronuclear, 5 |
|
|
| myopathy, centronuclear, 2 |
|
|
| centronuclear myopathy |
|
|
| myopathy |
|
|
| scarlet fever |
|
|
Search SPEG in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SPEG_HUMAN- Myopathy, centronuclear, 5 (CNM5) [MIM:615959]: A form of centronuclear myopathy, a congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. CNM5 features include severe neonatal hypotonia with respiratory insufficiency, difficulty feeding, and delayed motor development. Some patients die in infancy, and some develop dilated cardiomyopathy. {ECO:0000269 PubMed:25087613}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for SPEG
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for SPEG Gene
Publications for SPEG Gene
- APEG-1, a novel gene preferentially expressed in aortic smooth muscle cells, is down-regulated by vascular injury. (PMID: 8663449) Hsieh CM … Lee ME (The Journal of biological chemistry 1996) 2 3 4 23
- The human desmin locus: gene organization and LCR-mediated transcriptional control. (PMID: 16545539) Tam JL … Antoniou M (Genomics 2006) 3 4 23
- Striated muscle preferentially expressed genes alpha and beta are two serine/threonine protein kinases derived from the same gene as the aortic preferentially expressed gene-1. (PMID: 10973969) Hsieh CM … Lee ME (The Journal of biological chemistry 2000) 2 3 23
- SPEG (Striated Muscle Preferentially Expressed Protein Kinase) Is Essential for Cardiac Function by Regulating Junctional Membrane Complex Activity. (PMID: 27729468) Quick AP … Wehrens XH (Circulation research 2017) 2 3
- SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. (PMID: 25087613) Agrawal PB … Beggs AH (American journal of human genetics 2014) 3 4
ExternalLinks
Products for SPEG Gene
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- Custom Antibody Services
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- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SPEG
- Origene Custom Protein Services for SPEG
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SPEG
- Browse OriGene Inhibitory RNA Products For SPEG
- OriGene qPCR primer pairs for SPEG
- OriGene qPCR primer pairs and template standards for SPEG
- OriGene CRISPR knockouts for SPEG
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SPEG
- Sino Biological Human cDNA Clone for SPEG
- Sino Biological Recombinant Proteins for SPEG
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for SPEG
- Browse Sino Biological Assays
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- Browse Antibodies
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for SPEG
- Novus Biologicals proteins and lysates for SPEG
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for SPEG
- Abcam proteins for SPEG
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Taconic Biosciences Mouse Models for SPEG
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for SPEG (AFLGC-SPEG)
- VectorBuilder Custom and pre-made DNA vectors for SPEG (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for SPEG (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for SPEG (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for SPEG CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for SPEG
- antibodies-online: Show 4 available SPEG Antibodies ranked by validation data
- Compare Top SPEG Antibodies
- Quality Products:
- antibodies-online: Search results for available SPEG related products ranked by validation data
- antibodies-online: Show 4 available SPEG Proteins ranked by validation data
- Compare Top SPEG Proteins
- Quality Products:
- Horizon Cell Lines for SPEG
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SPEG
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SPEG
- Search GeneCopoeia for miRNA 3'UTR Target clone products for SPEG
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPEG
- Boster Bio Antibodies for SPEG
- Browse Boster Bio ELISA Kits
- Signalway Proteins for SPEG
Sources for SPEG Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB