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Gene

SPEG

striated muscle enriched protein kinase

Summary

Cytogenetic location
2q35
Coordinates
Chromosome 2: 219,434,843–219,493,629 (GRCh38)
Exons
41 exons across 58.8 kb
Protein
3,267 amino acids
Also known as
MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG, MYLK6
Previous symbols
APEG1
MANE Select transcript
ENST00000312358.12NM_005876.5
Locus type
gene with protein product

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Congenital Myopathies

    • TTN-related myopathy

      Skeletal muscle disorders caused by variants in TTN, which encodes the muscle protein titin, with onset from birth to adulthood.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
    • Centronuclear myopathy (including X-linked myotubular myopathy)

      Congenital myopathies with centrally placed nuclei in muscle fibers, caused by MTM1, DNM2, BIN1 and other genes; the X-linked myotubular form (MTM1) is often severe in boys.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong

How SPEG is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where SPEG sits. SPEG and 33 genes near it on chromosome 2, from 218,964,236 to 219,964,235.Chromosome 22q35p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3219 Mb219.2 Mb219.4 Mb219.6 Mb219.8 MbFEV: 218,981,087–218,985,566, reverse strandFEVCRYBA2: 218,990,189–218,994,270, reverse strandCRYBA2CFAP65: 219,002,846–219,041,527, reverse strandCFAP65IHH: 219,054,424–219,061,064, reverse strandIHHNHEJ1: 219,069,355–219,160,869, reverse strand: 219,075,329–219,170,827, reverse strandSLC23A3: 219,161,465–219,170,095, reverse strandSLC23A3CNPPD1: 219,170,704–219,182,664, reverse strandCNPPD1RETREG2: 219,176,225–219,185,917, forward strandRETREG2ZFAND2B: 219,195,237–219,209,651, forward strandABCB6: 219,209,765–219,219,012, reverse strand: 219,209,772–219,222,738, reverse strandATG9A: 219,219,380–219,230,383, reverse strandANKZF1: 219,229,769–219,236,679, forward strandGLB1L: 219,236,598–219,245,478, reverse strandSTK16: 219,245,212–219,250,339, forward strandTUBA4A: 219,249,710–219,277,902, reverse strandTUBA4ATUBA4B: 219,253,243–219,272,197, forward strandTUBA4BDNAJB2: 219,279,308–219,286,900, forward strandDNAJB2PTPRN: 219,289,623–219,309,648, reverse strandPTPRNRESP18: 219,327,407–219,335,552, reverse strandRESP18DNPEP: 219,360,090–219,400,022, reverse strandDNPEPDES: 219,417,474–219,426,740, forward strandDESSPEG: 219,434,843–219,493,629, forward strandSPEG: 219,491,867–219,498,244, forward strandSPEGNB: 219,496,129–219,498,287, forward strandSPEGNBGMPPA: 219,498,618–219,513,898, forward strandGMPPAASIC4: 219,514,170–219,538,772, forward strandASIC4CHPF: 219,538,949–219,543,818, reverse strandCHPFTMEM198: 219,543,130–219,550,595, forward strandOBSL1: 219,550,727–219,572,076, reverse strandOBSL1INHA: 219,569,162–219,575,711, forward strandSTK11IP: 219,595,805–219,616,452, forward strandSTK11IPSLC4A3: 219,627,011–219,641,982, forward strandSLC4A3Diagram of SPEG: 41 exons on the forward strand of chromosome 2Exon 5: 1 known disease-causing siteExon 18: 1 known disease-causing siteExon 27: 1 known disease-causing siteExon 30: 4 known disease-causing sitesExon 32: 1 known disease-causing siteExon 36: 2 known disease-causing sitesExon 37: 2 known disease-causing sitesExon 1: 219,434,843–219,435,365, 523 basesExon 2: 219,444,653–219,444,742, 90 basesExon 3: 219,444,825–219,445,161, 337 basesExon 4: 219,447,974–219,449,271, 1,298 basesExon 5: 219,451,136–219,451,279, 144 basesExon 6: 219,451,625–219,451,807, 183 basesExon 7: 219,461,882–219,462,057, 176 basesExon 8: 219,462,298–219,462,386, 89 basesExon 9: 219,464,433–219,464,608, 176 basesExon 10: 219,467,174–219,467,434, 261 basesExon 11: 219,468,578–219,468,736, 159 basesExon 12: 219,468,859–219,469,048, 190 basesExon 13: 219,469,156–219,469,379, 224 basesExon 14: 219,471,868–219,471,987, 120 basesExon 15: 219,472,227–219,472,331, 105 basesExon 16: 219,472,890–219,473,096, 207 basesExon 17: 219,473,504–219,473,627, 124 basesExon 18: 219,473,728–219,473,903, 176 basesExon 19: 219,476,870–219,476,982, 113 basesExon 20: 219,477,277–219,477,445, 169 basesExon 21: 219,477,689–219,477,785, 97 basesExon 22: 219,477,905–219,478,105, 201 basesExon 23: 219,479,144–219,479,201, 58 basesExon 24: 219,479,783–219,479,860, 78 basesExon 25: 219,479,962–219,480,140, 179 basesExon 26: 219,480,671–219,480,697, 27 basesExon 27: 219,481,304–219,481,456, 153 basesExon 28: 219,481,638–219,481,680, 43 basesExon 29: 219,482,784–219,482,852, 69 basesExon 30: 219,483,098–219,485,072, 1,975 basesExon 31: 219,485,346–219,485,477, 132 basesExon 32: 219,488,194–219,488,310, 117 basesExon 33: 219,488,498–219,488,665, 168 basesExon 34: 219,488,778–219,488,900, 123 basesExon 35: 219,489,054–219,489,221, 168 basesExon 36: 219,489,336–219,489,939, 604 basesExon 37: 219,490,409–219,490,648, 240 basesExon 38: 219,490,733–219,490,956, 224 basesExon 39: 219,491,794–219,491,869, 76 basesExon 40: 219,492,111–219,492,260, 150 basesExon 41: 219,492,594–219,493,629, 1,036 bases125415′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 10.8 kb of the gene's 58.8 kb; 9,804 of those bases code for the protein.

How a genome test reads SPEG

13

positions in SPEG where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 58.8 kb of SPEG, introns included, not only the 10.8 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). SPEG gene: striated muscle enriched protein kinase. Retrieved 17 October 2026, from https://dantelabs.com/genes/speg

Vancouver

Dante Labs. SPEG gene: striated muscle enriched protein kinase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/speg

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