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Gene

GTF2H5

general transcription factor IIH subunit 5

Summary

Cytogenetic location
6q25.3
Coordinates
Chromosome 6: 158,168,350–158,199,344 (GRCh38)
Exons
3 exons across 31 kb
Protein
71 amino acids
Inheritance
Autosomal recessive
Also known as
FLJ30544, bA120J8.2, TTD-A, TFB5, TFIIH, TTDA
Previous symbols
C6orf175, TTD
MANE Select transcript
ENST00000607778.2NM_207118.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • DNA Repair Disease

    • Autosomal recessive

      A disease that has its basis in the disruption of DNA repair.

      • 4 GenCC submitters rate it definitive or strong

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 GTF2H5 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Stretches short reads find hard
Chromosome 6, with a bracket where GTF2H5 sits. GTF2H5 and 7 genes near it on chromosome 6, from 157,683,847 to 158,683,846.Chromosome 66q25.3p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q27157.8 Mb158 Mb158.2 Mb158.4 Mb158.6 MbSNX9: 157,700,387–157,945,077, forward strandSNX9SYNJ2: 157,981,824–158,099,176, forward strandSYNJ2SERAC1: 158,109,515–158,168,295, reverse strandSERAC1GTF2H5: 158,168,350–158,199,344, forward strandGTF2H5TULP4: 158,232,236–158,511,828, forward strandTULP4TMEM181: 158,536,436–158,635,519, forward strandTMEM181DYNLT1: 158,612,721–158,644,771, reverse strandDYNLT1SYTL3: 158,644,387–158,768,361, forward strandSYTL3Diagram of GTF2H5: 3 exons on the forward strand of chromosome 6Exon 1: 158,168,350–158,168,395, 46 basesExon 2: 158,170,470–158,170,538, 69 basesExon 3: 158,191,977–158,199,344, 7,368 bases1235′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 7.5 kb of the gene's 31 kb; 216 of those bases code for the protein.

How a genome test reads GTF2H5

1

position in GTF2H5 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 31 kb of GTF2H5, introns included, not only the 7.5 kb of exons.

Genes linked to the same conditions

Traits linked to GTF2H5

The Human Phenotype Ontology lists these as features of the rare conditions GTF2H5 can cause. Each trait's page lists the other genes linked to it.

External links

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.). GTF2H5 gene: general transcription factor IIH subunit 5. Retrieved 17 October 2026, from https://dantelabs.com/genes/gtf2h5

Vancouver

Dante Labs. GTF2H5 gene: general transcription factor IIH subunit 5 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gtf2h5

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