Skip to content
Use your HSA or FSA funds

Gene

CYLD

CYLD lysine 63 deubiquitinase

Summary

Cytogenetic location
16q12.1
Coordinates
Chromosome 16: 50,742,086–50,801,935 (GRCh38)
Exons
19 exons across 59.9 kb
Protein
956 amino acids
Inheritance
Autosomal dominant
Also known as
KIAA0849, USPL2
Previous symbols
CYLD1
MANE Select transcript
ENST00000427738.8NM_001378743.1
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

  • Amyotrophic Lateral Sclerosis (ALS)

    • Amyotrophic Lateral Sclerosis

      A neurodegenerative disorder of upper and lower motor neurons, occurring in sporadic and familial forms.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Tofersen (Qalsody, FDA 2023) for SOD1-ALS; ASO trials for C9orf72 and FUS; riluzole; edaravone; AMX0035 (sodium phenylbutyrate-taurursodiol); multidisciplinary ALS clinic care; respiratory support; genetic counseling for family members

  • CYLD Cutaneous Syndrome

    • Brooke-Spiegler syndrome (CYLD cutaneous syndrome)Autosomal dominant

      CYLD-related multiple cylindromas, spiradenomas and trichoepitheliomas, which are usually benign but can be disfiguring and rarely become malignant.

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

      Early diagnosis allows dermatology follow-up and timely removal of tumours.

  • Frontotemporal Dementia

    • Frontotemporal Dementia and/or Amyotrophic Lateral SclerosisAutosomal dominant

      Umbrella term for the genetic frontotemporal dementia and ALS spectrum, including forms caused by C9orf72, TBK1, VCP, SQSTM1 and other genes.

      • 1 GenCC submitter rates it definitive or strong

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 CYLD is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 16, with a bracket where CYLD sits. CYLD and 6 genes near it on chromosome 16, from 50,272,011 to 51,272,010.Chromosome 1616q12.1p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.350.4 Mb50.6 Mb50.8 Mb51 Mb51.2 MbADCY7: 50,244,699–50,318,607, forward strandADCY7BRD7: 50,313,487–50,369,059, reverse strandBRD7NKD1: 50,548,312–50,649,249, forward strandNKD1SNX20: 50,666,300–50,681,743, reverse strandSNX20NOD2: 50,693,217–50,733,348, forward strandNOD2CYLD: 50,742,086–50,801,935, forward strandCYLDSALL1: 51,135,841–51,152,683, reverse strandSALL1Diagram of CYLD: 19 exons on the forward strand of chromosome 16Exon 3: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 10: 3 known disease-causing sitesExon 11: 2 known disease-causing sitesExon 13: 1 known disease-causing siteExon 14: 1 known disease-causing siteExon 15: 1 known disease-causing siteExon 16: 3 known disease-causing sitesExon 17: 3 known disease-causing sitesExon 18: 3 known disease-causing sitesExon 19: 2 known disease-causing sitesExon 1: 50,742,086–50,742,124, 39 basesExon 2: 50,742,762–50,742,841, 80 basesExon 3: 50,749,576–50,750,202, 627 basesExon 4: 50,751,604–50,751,906, 303 basesExon 5: 50,754,319–50,754,424, 106 basesExon 6: 50,775,166–50,775,174, 9 basesExon 7: 50,776,179–50,776,277, 99 basesExon 8: 50,777,825–50,777,941, 117 basesExon 9: 50,779,665–50,780,044, 380 basesExon 10: 50,781,246–50,781,411, 166 basesExon 11: 50,782,325–50,782,466, 142 basesExon 12: 50,784,329–50,784,451, 123 basesExon 13: 50,786,855–50,786,946, 92 basesExon 14: 50,787,786–50,787,852, 67 basesExon 15: 50,791,558–50,791,690, 133 basesExon 16: 50,792,597–50,792,705, 109 basesExon 17: 50,793,546–50,793,664, 119 basesExon 18: 50,794,212–50,794,428, 217 basesExon 19: 50,796,324–50,801,935, 5,612 bases151015195′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 8.5 kb of the gene's 59.9 kb; 2,871 of those bases code for the protein.

How a genome test reads CYLD

32

positions in CYLD 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 59.9 kb of CYLD, introns included, not only the 8.5 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.). CYLD gene: CYLD lysine 63 deubiquitinase. Retrieved 16 October 2026, from https://dantelabs.com/genes/cyld

Vancouver

Dante Labs. CYLD gene: CYLD lysine 63 deubiquitinase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cyld

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test