Basic Information

Symbol
SPEG
RNA class
mRNA
Alias
Striated Muscle Enriched Protein Kinase Striated Muscle Preferentially Expressed Protein Kinase SPEGalpha KIAA1297 SPEGbeta MYLK6 APEG1 BPEG Aortic Preferentially Expressed Protein 1 Aortic Preferentially Expressed Gene 1 SPEG Complex Locus EC 2.7.11.1 MGC12676 APEG-1 Nuclear Protein, Marker For Differentiated Aortic Smooth Muscle And Down-Regulated With Vascular Injury EC 2.7.11 CNM5
Location (GRCh38)
2:219434843-219493629
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
-
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_005876.5
Sequence length
10782.0 nt
GC content
0.6656

Transcripts

ID Sequence Length GC content
NM_001173476.2 NCBI
CUUCUCCGUGCAGGGCCUCAGCUGGGUCAGCCGAGUGAGUGGGGCUGGG… 1432 nt 0.6264
NM_005876.5 NCBI
AGCACAGGCCGAAGGCGGGCGGGCAGCAGGAAGGCAGGCCGCCGGCCCC… 10782 nt 0.6656
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]

Forensic Context

No relevant information is available at the moment.