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Gene

GRHL2

grainyhead like transcription factor 2

Summary

Cytogenetic location
8q22.3
Coordinates
Chromosome 8: 101,492,439–101,669,726 (GRCh38)
Exons
16 exons across 177.3 kb
Protein
625 amino acids
Inheritance
Autosomal dominant
Also known as
FLJ13782, BOM
Previous symbols
DFNA28, TFCP2L3
MANE Select transcript
ENST00000646743.1NM_024915.4
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

  • Hearing Loss and Deafness

    • Autosomal Dominant Nonsyndromic Hearing LossAutosomal dominant

      Autosomal dominant form of nonsyndromic deafness.

      • 2 GenCC submitters rate it definitive or strong
    • Nonsyndromic Genetic Hearing Loss

      One of 97 genes linked to it

      Inherited hearing loss without other medical features, including the common recessive forms caused by GJB2, OTOF, SLC26A4, STRC and many other genes, as well as dominant, X-linked and mitochondrial forms.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing the genetic cause can guide hearing support and cochlear implant decisions, gene-therapy trial eligibility (for example OTOF) and family counselling.

  • Hereditary Corneal Dystrophies

    • Corneal Dystrophy

      A group of inherited conditions affecting one or more layers of the cornea, including Fuchs endothelial dystrophy (often linked to a TCF4 repeat expansion), TGFBI-related granular and lattice dystrophies, and rarer types caused by genes such as SLC4A11, COL8A2, ZEB1 and CHST6.

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

      Carriers of TGFBI variants are generally advised to avoid laser refractive surgery (LASIK or PRK), which can make deposits worse; corneal transplant can restore vision in advanced disease.

  • Hereditary Palmoplantar Keratodermas and Pachyonychia Congenita

    • Hereditary palmoplantar keratoderma

      Inherited thickening of the palms and soles, including pachyonychia congenita, mal de Meleda, Nagashima-type and Bothnian keratodermas, keratitis-ichthyosis-deafness syndrome, and the CTSC-related Papillon-Lefèvre and Haim-Munk syndromes.

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

      Diagnosis guides foot care and pain management; for CTSC-related forms early dental treatment protects the teeth, and GJB2-related forms warrant a hearing check.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How GRHL2 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 GRHL2 sits. GRHL2 and 2 genes near it on chromosome 8, from 101,081,083 to 102,081,082.Chromosome 88q22.3p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.3101.2 Mb101.4 Mb101.6 Mb101.8 Mb102 MbZNF706: 101,171,214–101,207,085, reverse strandZNF706GRHL2: 101,492,439–101,669,726, forward strandGRHL2NCALD: 101,686,542–102,124,907, reverse strandNCALDDiagram of GRHL2: 16 exons on the forward strand of chromosome 8Exon 3: 1 known disease-causing siteExon 4: 2 known disease-causing sitesExon 6: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 1: 101,492,439–101,492,789, 351 basesExon 2: 101,543,241–101,543,436, 196 basesExon 3: 101,552,715–101,552,782, 68 basesExon 4: 101,558,419–101,558,812, 394 basesExon 5: 101,570,339–101,570,394, 56 basesExon 6: 101,573,668–101,573,824, 157 basesExon 7: 101,577,408–101,577,519, 112 basesExon 8: 101,599,057–101,599,151, 95 basesExon 9: 101,619,539–101,619,697, 159 basesExon 10: 101,631,637–101,631,724, 88 basesExon 11: 101,632,226–101,632,365, 140 basesExon 12: 101,636,897–101,636,928, 32 basesExon 13: 101,644,131–101,644,225, 95 basesExon 14: 101,649,414–101,649,499, 86 basesExon 15: 101,664,454–101,664,518, 65 basesExon 16: 101,666,589–101,669,726, 3,138 bases12468101214165′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 5.2 kb of the gene's 177.3 kb; 1,878 of those bases code for the protein.

How a genome test reads GRHL2

8

positions in GRHL2 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 177.3 kb of GRHL2, introns included, not only the 5.2 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.). GRHL2 gene: grainyhead like transcription factor 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/grhl2

Vancouver

Dante Labs. GRHL2 gene: grainyhead like transcription factor 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/grhl2

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