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Aliases for SPEG Gene

Aliases for SPEG Gene

  • SPEG Complex Locus 2 3 5
  • Aortic Preferentially Expressed Protein 1 3 4
  • Aortic Preferentially Expressed Gene 1 2 3
  • EC 2.7.11.1 4 63
  • APEG-1 3 4
  • APEG1 3 4
  • Nuclear Protein, Marker For Differentiated Aortic Smooth Muscle And Down-Regulated With Vascular Injury 3
  • SPEGalpha 3
  • EC 2.7.11 63
  • SPEGbeta 3
  • KIAA1297 4
  • BPEG 3
  • CNM5 3

External Ids for SPEG Gene

Previous HGNC Symbols for SPEG Gene

  • APEG1

Previous GeneCards Identifiers for SPEG Gene

  • GC02P220007
  • GC02P220299
  • GC02P212152

Summaries for SPEG Gene

Entrez Gene Summary 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. Studies in mouse have determined that a lack of this protein affected myocardial development. Multiple alternatively spliced transcript variants have been reported for this gene, but the full-length nature of only two variants that encode different protein isoforms has been defined. [provided by RefSeq, Mar 2010]

GeneCards Summary for SPEG Gene

SPEG (SPEG Complex Locus) is a Protein Coding gene. Diseases associated with SPEG include centronuclear myopathy 5 and myopathy, centronuclear, autosomal recessive. 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 MYLK4.

UniProtKB/Swiss-Prot for SPEG Gene

  • Isoform 3 may have a role in regulating the growth and differentiation of arterial smooth muscle cells.

Gene Wiki entry for SPEG Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPEG Gene

Genomics for SPEG Gene

Regulatory Elements for SPEG Gene

Enhancers for SPEG Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SPEG on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the SPEG gene promoter:

Genomic Location for SPEG Gene

Chromosome:
2
Start:
219,434,192 bp from pter
End:
219,498,287 bp from pter
Size:
64,096 bases
Orientation:
Plus strand

Genomic View for SPEG Gene

Genes around SPEG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPEG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPEG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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.
    Miscellaneous:
    • Expression is under the tight control of the locus control region (LCRs).
    SequenceCaution:
    • Sequence=AAY15052.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=ABD61734.1; Type=Frameshift; Positions=31, 35; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SPEG Gene

    Alternative splice isoforms for SPEG Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPEG Gene

Proteomics data for SPEG Gene at MOPED

Post-translational modifications for SPEG Gene

Domains & Families for SPEG Gene

Gene Families for SPEG Gene

Suggested Antigen Peptide Sequences for SPEG Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15772

UniProtKB/Swiss-Prot:

SPEG_HUMAN :
  • Contains 2 fibronectin type-III domains.
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
Domain:
  • Contains 2 fibronectin type-III domains.
  • Contains 9 Ig-like (immunoglobulin-like) domains.
  • Contains 2 protein kinase domains.
Family:
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
genes like me logo Genes that share domains with SPEG: view

Function for SPEG Gene

Molecular function for SPEG Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot Function:
Isoform 3 may have a role in regulating the growth and differentiation of arterial smooth muscle cells.
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

Gene Ontology (GO) - Molecular Function for SPEG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with SPEG: view
genes like me logo Genes that share phenotypes with SPEG: view

Human Phenotype Ontology for SPEG Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SPEG Gene

MGI Knock Outs for SPEG:

Animal Model Products

  • Taconic Biosciences Mouse Models for SPEG

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SPEG Gene COMPARTMENTS Subcellular localization image for SPEG gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 3
endosome 2
chloroplast 1

No data available for Gene Ontology (GO) - Cellular Components for SPEG Gene

Pathways & Interactions for SPEG Gene

SuperPathways for SPEG Gene

No Data Available

Gene Ontology (GO) - Biological Process for SPEG Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SPEG Gene

Drugs & Compounds for SPEG Gene

No Compound Related Data Available

Transcripts for SPEG Gene

Unigene Clusters for SPEG Gene

SPEG complex locus:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SPEG Gene

No ASD Table

Relevant External Links for SPEG Gene

GeneLoc Exon Structure for
SPEG
ECgene alternative splicing isoforms for
SPEG

Expression for SPEG Gene

mRNA expression in normal human tissues for SPEG Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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).

Protein differential expression in normal tissues from HIPED for SPEG Gene

This gene is overexpressed in Ovary (28.0) and Heart (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SPEG Gene



SOURCE GeneReport for Unigene cluster for SPEG Gene Hs.21639

mRNA 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.
genes like me logo Genes that share expression patterns with SPEG: view

Primer Products

In Situ 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.

Orthologs for SPEG Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SPEG 35
  • 89.89 (n)
  • 92.1 (a)
SPEG 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPEG 35
  • 88.99 (n)
  • 91.23 (a)
SPEG 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Speg 35
  • 87.24 (n)
  • 91.43 (a)
Speg 16
Speg 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SPEG 35
  • 97.91 (n)
  • 97.51 (a)
SPEG 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Speg 35
  • 87.22 (n)
  • 91.4 (a)
oppossum
(Monodelphis domestica)
Mammalia SPEG 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 35 (a)
ManyToMany
chicken
(Gallus gallus)
Aves SPEG 35
  • 71.23 (n)
  • 68.01 (a)
SPEG 36
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPEG 36
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia speg 35
  • 57.95 (n)
  • 55.24 (a)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-195m20.1 35
  • 56.5 (n)
  • 52.84 (a)
speg 36
  • 41 (a)
OneToMany
SPEG (1 of 2) 36
  • 45 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-22 36
  • 4 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MEK1 36
  • 23 (a)
OneToMany
Species with no ortholog for SPEG:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for SPEG Gene

Paralogs for SPEG Gene

genes like me logo Genes that share paralogs with SPEG: view

Variants for SPEG Gene

Sequence variations from dbSNP and Humsavar for SPEG Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs55821435 - 219,444,963(+) CACCC(A/G)CCGCC reference, missense, utr-variant-5-prime
rs34398769 - 219,464,527(+) CAGAG(C/T)GTGGC reference, missense
rs34861443 - 219,467,189(+) AAGCC(A/G)GTCCC downstream-variant-500B, reference, missense
rs56334571 - 219,468,865(+) CTGCC(C/T)CATGG reference, missense
rs55670811 - 219,468,961(+) CTATG(C/T)GGTCA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SPEG Gene

Variant ID Type Subtype PubMed ID
nsv483018 CNV Gain 15286789
nsv834544 CNV Loss 17160897
nsv470518 CNV Loss 18288195
nsv520958 CNV Loss 19592680
dgv4437n71 CNV Loss 21882294
dgv4438n71 CNV Loss 21882294
nsv508886 CNV Insertion 20534489
esv2721485 CNV Deletion 23290073
esv2721486 CNV Deletion 23290073
nsv213401 CNV Loss 16902084
nsv875875 CNV Loss 21882294

Variation tolerance for SPEG Gene

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)

Relevant External Links for SPEG Gene

HapMap Linkage Disequilibrium report
SPEG
Human Gene Mutation Database (HGMD)
SPEG

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPEG Gene

Disorders for SPEG Gene

MalaCards: The human disease database

(8) MalaCards diseases for SPEG Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
centronuclear myopathy 5
  • myopathy, centronuclear, 5
myopathy, centronuclear, autosomal recessive
  • autosomal recessive centronuclear myopathy
myopathy, centronuclear
  • centronuclear myopathy, autosomal, modifier of
scarlet fever
  • scarlatina
mastoiditis
- elite association - COSMIC cancer census association via MalaCards
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.

Relevant External Links for SPEG

Genetic Association Database (GAD)
SPEG
Human Genome Epidemiology (HuGE) Navigator
SPEG
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPEG
genes like me logo Genes that share disorders with SPEG: view

No data available for Genatlas for SPEG Gene

Publications for SPEG Gene

  1. APEG-1, a novel gene preferentially expressed in aortic smooth muscle cells, is down-regulated by vascular injury. (PMID: 8663449) Hsieh C.-M. … Lee M.-E. (J. Biol. Chem. 1996) 2 3 4 23 67
  2. The human desmin locus: gene organization and LCR-mediated transcriptional control. (PMID: 16545539) Tam J.L.Y. … Antoniou M. (Genomics 2006) 3 23
  3. 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 C.M. … Lee M.E. (J. Biol. Chem. 2000) 2 23
  4. SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. (PMID: 25087613) Agrawal P.B. … Beggs A.H. (Am. J. Hum. Genet. 2014) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for SPEG Gene

Sources for SPEG Gene

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