2. Gene
  3. SPEG - striated muscle enriched protein kinase Gene

SPEG - striated muscle enriched protein kinase Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as BPEG; CNM5; APEG1; MYLK6; APEG-1; SPEGbeta; SPEGalpha

Gene ID: 10290 | Gene type: protein coding

About SPEG

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:219,434,843-219,493,629 (from NCBI)

This gene has 22 transcripts (splice variants), 127 orthologues, 9 paralogues and is associated with 3 phenotypes. Broad expression in endometrium (RPKM 4.8), prostate (RPKM 4.5) and 17 other tissues.

Summary

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 Products(2)

mRNA Protein Name
NM_001173476.2 NP_001166947.1 striated muscle preferentially expressed protein kinase isoform 4
NM_005876.5 NP_005867.3 striated muscle preferentially expressed protein kinase isoform 1

SPEG Protein Structure

I-set

I-set: Immunoglobulin I-set domain (43 - 125)

I-set

I-set: Immunoglobulin I-set domain (722 - 811)

I-set

I-set: Immunoglobulin I-set domain (869 - 959)

I-set

I-set: Immunoglobulin I-set domain (972 - 1058)

I-set

I-set: Immunoglobulin I-set domain (1064 - 1153)

I-set

I-set: Immunoglobulin I-set domain (1188 - 1277)

I-set

I-set: Immunoglobulin I-set domain (1391 - 1480)

I-set

I-set: Immunoglobulin I-set domain (1485 - 1574)

Pkinase

Pkinase: Protein kinase domain (1601 - 1854)

I-set

I-set: Immunoglobulin I-set domain (2584 - 2674)

Pkinase

Pkinase: Protein kinase domain (2966 - 3218)

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  • 3267 a.a.
Protein Preferred Names Protein Names

striated muscle preferentially expressed protein kinase

SPEG complex locus

Recombinant SPEG Proteins

Cat. No. Product Name Accession Purity
HY-P76729 APEG1 Protein, Human (His) Q15772-4 (M1-E113) ≥95%

Related Diseases

Diseases Alias
Myopathy, Centronuclear, 5

CNM5

Centronuclear Myopathy 5

Myopathy, Centronuclear, Type 5
Myopathy, Centronuclear, 2

Myopathy, Centronuclear, Autosomal Recessive

Autosomal Recessive Centronuclear Myopathy

CNM2

Centronuclear Myopathy 2

Ar-Cnm

Myotubular Myopathy, Autosomal Recessive

Autosomal Recessive Myotubular Myopathy

Centronuclear Myopathy Autosomal Recessive

Myopathy, Centronuclear, Type 2
Centronuclear Myopathy

Myopathy, Centronuclear

Myotubular Myopathy

Cnm

Myopathy, Myotubular

Congenital Structural Myopathy
Scarlet Fever

Scarlatina

Scarlatina Nos
Myopathy

Muscular Diseases

Myopathies
Necrotizing Fasciitis

Fasciitis, Necrotizing
Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability

Congenital Muscular Dystrophy With Cataracts And Intellectual Disability

MDCCAID
Robinow Syndrome, Autosomal Dominant 2

Autosomal Dominant Robinow Syndrome 2

DRS2

Robinow, Autosomal Dominant Syndrome, Type 2
Pharyngitis

Acute Pharyngitis

Chronic Pharyngitis

Acute Sore Throat

Chronic Sore Throat

Persistent Sore Throat

Pharyngeal Diseases

Chronic Pharyn/Nasopharyngitis

Chronic Pharyngitis And Nasopharyngitis

Inflamed Throat

Pharyngeal Disease

Pharyngeal Disorder

Pharyngitis - Acute

Sore Throat - Chronic

Acute Pharyngitis Nos

Acute Sore Throat Nos

Acute Throat Inflammation

Infective Pharyngitis

Infection Of Pharynx

Acute Infective Pharyngitis

Acute Infective Pharyngitis Nos

Acute Pharyngeal Inflammation

Inflammation Of The Throat

Throat Inflammation

Throat Infection

Putrid Pharyngitis

Pharyngeal Inflammation

Pharyngitis Nos

Chronic Throat Pain

Throat Catarrh
Ptosis

Blepharoptosis

Drooping Eyelid

Droopy Eyelid

Ptosis Of Eyelid

Paralysis Of Levator Palpebrae Superioris
Commensal Bacterial Infectious Disease
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (10)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-140590 Azido-PEG3-S-PEG3-azide / Unkown
HY-140591 Azido-PEG3-S-PEG4-propargyl / Unkown
HY-140592 Azido-PEG3-S-PEG4-t-butyl ester / Unkown
HY-140594 m-PEG3-S-PEG4-propargyl / Unkown
HY-140595 m-PEG3-S-PEG1-C2-Boc / Unkown
HY-140596 m-PEG3-S-PEG3-Boc / Unkown
HY-140597 Propargyl-PEG4-S-PEG4-acid / Unkown
HY-140598 Propargyl-PEG4-S-PEG4-propargyl / Unkown
HY-140599 Propargyl-PEG4-S-PEG4-Boc / Unkown
HY-RS13658 SPEG Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta SPEG VGNC VGNC:99406
Bos taurus SPEG VGNC VGNC:52830
Canis familiaris SPEG VGNC VGNC:49703
Rattus norvegicus SPEG RGD RGD:2124
Mus musculus SPEG MGD MGI:109282
Felis catus SPEG VGNC VGNC:80366
Others SPEG NCBI