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Gene

PLEC

plectin

Summary

Cytogenetic location
8q24.3
Coordinates
Chromosome 8: 143,915,153–143,939,597 (GRCh38)
Exons
32 exons across 24.4 kb
Protein
4,547 amino acids
Also known as
PCN, PLTN
Previous symbols
EBS1, PLEC1
MANE Select transcript
ENST00000345136.8NM_201384.3
Locus type
gene with protein product

Reference genomeGRCh38

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

Curated reports relevant to this gene

  • Congenital Myasthenic Syndrome

    • Congenital Myasthenic Syndrome (All Types)

      Umbrella term covering all congenital myasthenic syndromes, including the common CHRNE, RAPSN, DOK7 and MUSK forms.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Many forms respond to specific medications such as pyridostigmine, salbutamol or ephedrine, and the right choice depends on the gene involved.

  • Epidermolysis Bullosa

    • Inherited epidermolysis bullosa

      All inherited forms of skin fragility with blistering, including simplex, junctional and dystrophic epidermolysis bullosa and Kindler syndrome.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Recessive dystrophic forms need regular skin cancer surveillance, and gene-based wound therapy is now available for dystrophic EB.

  • Limb-Girdle Muscular Dystrophy

    • Limb-girdle Muscular Dystrophy is defined as a collection of numerous subtypes with differing inheritance patterns (with diagnostic sufficiency being varied too). Carriers of variants related to the condition should seek guidance from a muscular-skeletal specialist for a definitive diagnosis.

      • 3 GenCC submitters rate it definitive or strong

How PLEC is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 8, with a bracket where PLEC sits. PLEC and 45 genes near it on chromosome 8, from 143,427,375 to 144,427,374.Chromosome 88q24.3p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.3143.6 Mb143.8 Mb144 Mb144.2 Mb144.4 MbMAFA: 143,419,182–143,430,732, reverse strandMAFAZC3H3: 143,437,655–143,541,578, reverse strandZC3H3GSDMD: 143,553,207–143,563,062, forward strandGSDMDMROH6: 143,566,188–143,573,110, reverse strandNAPRT: 143,574,782–143,578,649, reverse strandEEF1D: 143,579,697–143,599,541, reverse strandTIGD5: 143,597,831–143,603,224, forward strandTIGD5PYCR3: 143,603,210–143,609,773, reverse strandPYCR3GFUS: 143,612,617–143,618,048, reverse strandGFUSZNF623: 143,635,518–143,656,418, forward strandZNF623ZNF707: 143,684,452–143,713,898, forward strandCCDC166: 143,706,694–143,708,109, reverse strandCCDC166MAPK15: 143,716,279–143,722,458, forward strandMAPK15SACK1H: 143,723,933–143,740,732, reverse strandSACK1HIQANK1: 143,733,510–143,790,645, forward strandIQANK1SCRIB: 143,790,920–143,815,792, reverse strandSCRIBPUF60: 143,816,344–143,830,709, reverse strandPUF60NRBP2: 143,833,583–143,841,109, reverse strandNRBP2EPPK1: 143,857,324–143,878,468, reverse strandEPPK1PLEC: 143,915,153–143,939,597, reverse strandPLECPARP10: 143,977,151–144,019,930, reverse strandPARP10GRINA: 143,990,048–143,994,935, forward strandGRINASPATC1: 144,012,275–144,047,114, forward strandSPATC1OPLAH: 144,051,265–144,064,091, reverse strandOPLAHEXOSC4: 144,078,560–144,081,408, forward strandEXOSC4: 144,078,642–144,084,330, forward strandGPAA1: 144,082,337–144,093,149, forward strandGPAA1CYC1: 144,095,039–144,097,525, forward strandSHARPIN: 144,097,513–144,108,124, reverse strandMAF1: 144,103,112–144,107,618, forward strandWDR97: 144,107,726–144,118,328, forward strandHGH1: 144,137,774–144,140,851, forward strandHGH1MROH1: 144,147,975–144,262,470, forward strandMROH1BOP1: 144,262,045–144,291,453, reverse strandBOP1SCX: 144,266,446–144,268,481, forward strandSCXHSF1: 144,291,521–144,314,729, forward strandHSF1DGAT1: 144,314,584–144,326,916, reverse strandDGAT1SCRT1: 144,330,565–144,336,503, reverse strandSCRT1SLC52A2: 144,333,957–144,361,447, forward strandSLC52A2CATSPERQ: 144,352,219–144,354,954, reverse strand: 144,353,228–144,355,609, reverse strandFBXL6: 144,355,427–144,359,376, reverse strandADCK5: 144,373,101–144,393,243, forward strandCPSF1: 144,393,229–144,409,864, reverse strandCPSF1SLC39A4: 144,409,742–144,416,894, reverse strandSLC39A4VPS28: 144,423,597–144,429,499, reverse strandVPS28Diagram of PLEC: 32 exons on the reverse strand of chromosome 8Exon 32: 30 known disease-causing sitesExon 31: 38 known disease-causing sitesExon 30: 1 known disease-causing siteExon 29: 3 known disease-causing sitesExon 23: 2 known disease-causing sitesExon 22: 1 known disease-causing siteExon 21: 5 known disease-causing sitesExon 17: 1 known disease-causing siteExon 14: 3 known disease-causing sitesExon 12: 3 known disease-causing sitesExon 11: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 6: 2 known disease-causing sitesExon 5: 1 known disease-causing siteExon 1: 1 known disease-causing siteExon 32: 143,915,153–143,922,395, 7,243 basesExon 31: 143,922,504–143,925,884, 3,381 basesExon 30: 143,926,784–143,926,882, 99 basesExon 29: 143,926,977–143,927,081, 105 basesExon 28: 143,927,252–143,927,335, 84 basesExon 27: 143,927,410–143,927,766, 357 basesExon 26: 143,927,854–143,927,992, 139 basesExon 25: 143,929,103–143,929,281, 179 basesExon 24: 143,929,414–143,929,571, 158 basesExon 23: 143,929,646–143,929,829, 184 basesExon 22: 143,929,936–143,930,062, 127 basesExon 21: 143,930,144–143,930,298, 155 basesExon 20: 143,930,384–143,930,536, 153 basesExon 19: 143,931,534–143,931,659, 126 basesExon 18: 143,931,937–143,932,032, 96 basesExon 17: 143,932,130–143,932,234, 105 basesExon 16: 143,932,400–143,932,561, 162 basesExon 15: 143,932,635–143,932,712, 78 basesExon 14: 143,932,793–143,933,111, 319 basesExon 13: 143,933,197–143,933,351, 155 basesExon 12: 143,933,998–143,934,091, 94 basesExon 11: 143,934,318–143,934,445, 128 basesExon 10: 143,934,635–143,934,730, 96 basesExon 9: 143,934,810–143,934,929, 120 basesExon 8: 143,935,011–143,935,117, 107 basesExon 7: 143,935,198–143,935,313, 116 basesExon 6: 143,935,848–143,936,014, 167 basesExon 5: 143,936,979–143,937,071, 93 basesExon 4: 143,937,165–143,937,242, 78 basesExon 3: 143,938,151–143,938,240, 90 basesExon 2: 143,938,631–143,938,692, 62 basesExon 1: 143,939,350–143,939,597, 248 bases323025201510515′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 14.8 kb of the gene's 24.4 kb; 13,644 of those bases code for the protein.

How a genome test reads PLEC

106

positions in PLEC 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 24.4 kb of PLEC, introns included, not only the 14.8 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.). PLEC gene: plectin. Retrieved 16 October 2026, from https://dantelabs.com/genes/plec

Vancouver

Dante Labs. PLEC gene: plectin [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/plec

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