SPEG - striated muscle enriched protein kinase Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10290

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)

  • 0
  • 600
  • 1200
  • 1800
  • 2400
  • 3000
  • 3267 a.a.
Protein Preferred Names Protein Names

striated muscle preferentially expressed protein kinase

  • SPEG complex locus

SPEG Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SPEG Q15772 PRMT1 Homo sapiens Q99873 25416956
Intra
SPEG Q15772 PRMT1 Homo sapiens Q99873 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SPEG Proteins

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

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

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