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Gene

GREB1L

GREB1 like retinoic acid receptor coactivator

Summary

Cytogenetic location
18q11.1-q11.2
Coordinates
Chromosome 18: 21,242,232–21,526,112 (GRCh38)
Exons
33 exons across 283.9 kb
Protein
1,923 amino acids
Inheritance
Autosomal dominant
Also known as
FLJ13687, C18orf6
Previous symbols
KIAA1772
MANE Select transcript
ENST00000424526.7NM_001142966.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

  • Congenital Anomalies of the Kidney and Urinary Tract

    • Renal Hypodysplasia/Aplasia 3Autosomal dominant

      Small, malformed or absent kidneys linked to GREB1L variants, with variable penetrance.

      • 4 GenCC submitters rate it definitive or strong

  • Hearing Loss and Deafness

    • Autosomal Dominant Nonsyndromic Hearing LossAutosomal dominant

      Autosomal dominant form of nonsyndromic deafness.

      • 1 GenCC submitter rates 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.

      • 1 GenCC submitter rates 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.

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 GREB1L is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 18, with a bracket where GREB1L sits. GREB1L and 6 genes near it on chromosome 18, from 20,884,172 to 21,884,171.Chromosome 1818q11.1-q11.2p11.32p11.31p11.23p11.22p11.21p11.1q11.1q11.2q12.1q12.2q12.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q2321 Mb21.2 Mb21.4 Mb21.6 Mb21.8 MbROCK1: 20,944,612–21,111,882, reverse strandROCK1: 21,111,059–21,111,139, reverse strandGREB1L: 21,242,232–21,526,112, forward strandGREB1LESCO1: 21,529,041–21,600,966, reverse strandESCO1SNRPD1: 21,612,266–21,633,524, forward strandSNRPD1ABHD3: 21,650,895–21,704,878, reverse strandABHD3MIB1: 21,704,957–21,870,953, forward strandMIB1Diagram of GREB1L: 33 exons on the forward strand of chromosome 18Exon 3: 1 known disease-causing siteExon 6: 2 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 10: 1 known disease-causing siteExon 11: 2 known disease-causing sitesExon 12: 1 known disease-causing siteExon 14: 1 known disease-causing siteExon 15: 1 known disease-causing siteExon 16: 3 known disease-causing sitesExon 17: 1 known disease-causing siteExon 18: 3 known disease-causing sitesExon 19: 1 known disease-causing siteExon 21: 2 known disease-causing sitesExon 22: 5 known disease-causing sitesExon 23: 3 known disease-causing sitesExon 24: 1 known disease-causing siteExon 25: 1 known disease-causing siteExon 26: 1 known disease-causing siteExon 27: 1 known disease-causing siteExon 28: 2 known disease-causing sitesExon 29: 2 known disease-causing sitesExon 30: 1 known disease-causing siteExon 31: 2 known disease-causing sitesExon 32: 2 known disease-causing sitesExon 33: 2 known disease-causing sitesExon 1: 21,242,232–21,242,393, 162 basesExon 2: 21,366,027–21,366,136, 110 basesExon 3: 21,383,510–21,383,675, 166 basesExon 4: 21,384,206–21,384,403, 198 basesExon 5: 21,395,385–21,395,561, 177 basesExon 6: 21,401,150–21,401,326, 177 basesExon 7: 21,403,872–21,403,994, 123 basesExon 8: 21,439,521–21,439,637, 117 basesExon 9: 21,440,269–21,440,388, 120 basesExon 10: 21,441,400–21,441,537, 138 basesExon 11: 21,444,224–21,444,409, 186 basesExon 12: 21,449,510–21,449,836, 327 basesExon 13: 21,451,023–21,451,151, 129 basesExon 14: 21,452,083–21,452,217, 135 basesExon 15: 21,454,366–21,454,563, 198 basesExon 16: 21,473,031–21,473,211, 181 basesExon 17: 21,477,164–21,477,356, 193 basesExon 18: 21,485,620–21,485,753, 134 basesExon 19: 21,490,012–21,490,351, 340 basesExon 20: 21,495,670–21,495,785, 116 basesExon 21: 21,496,454–21,496,698, 245 basesExon 22: 21,499,729–21,500,306, 578 basesExon 23: 21,500,540–21,500,642, 103 basesExon 24: 21,505,412–21,505,567, 156 basesExon 25: 21,505,810–21,505,949, 140 basesExon 26: 21,508,118–21,508,279, 162 basesExon 27: 21,508,387–21,508,591, 205 basesExon 28: 21,513,821–21,513,986, 166 basesExon 29: 21,515,417–21,515,644, 228 basesExon 30: 21,516,613–21,516,754, 142 basesExon 31: 21,518,034–21,518,234, 201 basesExon 32: 21,520,688–21,520,823, 136 basesExon 33: 21,522,658–21,526,112, 3,455 bases151015202530335′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 9.3 kb of the gene's 283.9 kb; 5,772 of those bases code for the protein.

How a genome test reads GREB1L

49

positions in GREB1L 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 283.9 kb of GREB1L, introns included, not only the 9.3 kb of exons.

Genes linked to the same conditions

Traits linked to GREB1L

The Human Phenotype Ontology lists these as features of the rare conditions GREB1L 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.). GREB1L gene: GREB1 like retinoic acid receptor coactivator. Retrieved 17 October 2026, from https://dantelabs.com/genes/greb1l

Vancouver

Dante Labs. GREB1L gene: GREB1 like retinoic acid receptor coactivator [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/greb1l

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