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Gene

TMLHE

trimethyllysine hydroxylase, epsilon

Summary

Cytogenetic location
Xq28
Coordinates
Chromosome X: 155,489,011–155,612,952 (GRCh38)
Exons
8 exons across 123.9 kb
Protein
421 amino acids
Also known as
TMLH, FLJ10727, BBOX2, XAP130
MANE Select transcript
ENST00000334398.8NM_018196.4
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 reports relevant to this gene

No Genome Test report reads TMLHE yet. The test sequences your whole genome, so your data includes it all the same.

How TMLHE is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome X, with a bracket where TMLHE sits. TMLHE and 16 genes near it on chromosome X, from 155,050,982 to 156,050,981.Chromosome XXq28p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q28155.2 Mb155.4 Mb155.6 Mb155.8 Mb156 MbFUNDC2: 155,025,980–155,065,641, forward strandCMC4: 155,060,021–155,071,303, reverse strandCMC4: 155,061,622–155,065,519, reverse strandMTCP1: 155,064,034–155,147,937, reverse strandMTCP1BRCC3: 155,071,416–155,128,969, forward strandBRCC3VBP1: 155,197,007–155,239,841, forward strandVBP1RAB39B: 155,258,235–155,264,531, reverse strandRAB39BCLIC2: 155,272,944–155,334,824, reverse strandCLIC2H2AB2: 155,380,709–155,381,299, forward strandH2AB2F8A2: 155,382,095–155,383,801, forward strandF8A2F8A3: 155,456,914–155,458,620, reverse strandF8A3H2AB3: 155,459,415–155,460,005, reverse strandH2AB3TMLHE: 155,489,011–155,612,952, reverse strandTMLHESPRY3: 155,612,298–155,782,459, forward strandSPRY3VAMP7: 155,881,227–155,943,769, forward strandVAMP7IL9R: 155,997,651–156,013,017, forward strandIL9RWASH6P: 156,020,826–156,025,710, forward strandWASH6PDiagram of TMLHE: 8 exons on the reverse strand of chromosome XExon 6: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 8: 155,489,011–155,491,666, 2,656 basesExon 7: 155,492,357–155,492,495, 139 basesExon 6: 155,506,898–155,507,134, 237 basesExon 5: 155,511,673–155,511,792, 120 basesExon 4: 155,513,986–155,514,265, 280 basesExon 3: 155,524,456–155,524,632, 177 basesExon 2: 155,545,096–155,545,277, 182 basesExon 1: 155,612,792–155,612,952, 161 bases876543215′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 4 kb of the gene's 123.9 kb; 1,266 of those bases code for the protein.

How a genome test reads TMLHE

2

positions in TMLHE 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 123.9 kb of TMLHE, introns included, not only the 4 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.
  • 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.). TMLHE gene: trimethyllysine hydroxylase, epsilon. Retrieved 16 October 2026, from https://dantelabs.com/genes/tmlhe

Vancouver

Dante Labs. TMLHE gene: trimethyllysine hydroxylase, epsilon [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tmlhe

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