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Gene

TGM5

transglutaminase 5

Summary

Cytogenetic location
15q15.2
Coordinates
Chromosome 15: 43,232,590–43,266,928 (GRCh38)
Exons
13 exons across 34.3 kb
Protein
720 amino acids
Inheritance
Autosomal recessive
Also known as
TGX, TGMX
MANE Select transcript
ENST00000220420.10NM_201631.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

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

Curated report relevant to this gene

  • Inherited Ichthyoses

    • Peeling skin syndromeAutosomal recessive

      A group of conditions in which the outer layer of skin peels off easily, either over the whole body or mainly on the hands and feet.

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

      Avoiding friction, heat and moisture reduces peeling.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How TGM5 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 15, with a bracket where TGM5 sits. TGM5 and 20 genes near it on chromosome 15, from 42,749,759 to 43,749,758.Chromosome 1515q15.2p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q14q15.1q15.2q15.3q21.1q21.2q21.3q22.1q22.2q22.31q22.32q22.33q23q24.1q24.2q24.3q25.1q25.2q25.3q26.1q26.2q26.342.8 Mb43 Mb43.2 Mb43.4 Mb43.6 MbTTBK2: 42,738,730–42,920,850, reverse strandTTBK2UBR1: 42,942,897–43,106,141, reverse strandUBR1TMEM62: 43,123,279–43,185,144, forward strandTMEM62: 43,179,715–43,206,481, reverse strandCCNDBP1: 43,185,118–43,197,177, forward strandCCNDBP1EPB42: 43,191,351–43,221,053, reverse strandEPB42TGM5: 43,232,590–43,266,928, reverse strandTGM5TGM7: 43,276,271–43,302,255, reverse strandTGM7LCMT2: 43,323,649–43,330,582, reverse strandLCMT2MAPDA: 43,329,654–43,355,418, forward strandMAPDAZSCAN29: 43,357,920–43,371,058, reverse strandZSCAN29TUBGCP4: 43,369,221–43,409,771, forward strandTUBGCP4TP53BP1: 43,403,061–43,510,728, reverse strandTP53BP1MAP1A: 43,510,946–43,531,620, forward strandMAP1APPIP5K1: 43,533,462–43,590,228, reverse strandPPIP5K1CKMT1B: 43,593,054–43,604,901, forward strandCKMT1BSTRC: 43,597,892–43,618,800, reverse strandSTRC: 43,614,208–43,632,283, reverse strandCATSPER2: 43,628,503–43,668,118, reverse strandCATSPER2CKMT1A: 43,692,886–43,702,501, forward strandCKMT1APDIA3: 43,746,364–43,773,279, forward strandPDIA3Diagram of TGM5: 13 exons on the reverse strand of chromosome 15Exon 13: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 6: 3 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 2: 1 known disease-causing siteExon 13: 43,232,590–43,233,344, 755 basesExon 12: 43,233,554–43,233,687, 134 basesExon 11: 43,234,769–43,234,929, 161 basesExon 10: 43,235,469–43,235,837, 369 basesExon 9: 43,238,817–43,239,056, 240 basesExon 8: 43,239,163–43,239,266, 104 basesExon 7: 43,240,852–43,240,990, 139 basesExon 6: 43,252,759–43,252,936, 178 basesExon 5: 43,253,506–43,253,634, 129 basesExon 4: 43,256,568–43,256,686, 119 basesExon 3: 43,260,052–43,260,297, 246 basesExon 2: 43,260,400–43,260,579, 180 basesExon 1: 43,266,840–43,266,928, 89 bases1310515′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 2.8 kb of the gene's 34.3 kb; 2,163 of those bases code for the protein.

How a genome test reads TGM5

14

positions in TGM5 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 34.3 kb of TGM5, introns included, not only the 2.8 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.). TGM5 gene: transglutaminase 5. Retrieved 16 October 2026, from https://dantelabs.com/genes/tgm5

Vancouver

Dante Labs. TGM5 gene: transglutaminase 5 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tgm5

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