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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CYLD
CYLD lysine 63 deubiquitinase
Chromosome 16 Β· 16q12.1
NCBI Gene: 1540Ensembl: ENSG00000083799.19HGNC: HGNC:2584UniProt: Q9NQC7
348PubMed Papers
24Diseases
0Drugs
73Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneProteaseTumor Suppressor
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
regulation of mitotic cell cyclecytoplasmic side of plasma membranemidbodycysteine-type deubiquitinase activityBrooke-Spiegler syndromefamilial cylindromatosisfrontotemporal dementia and/or amyotrophic lateral sclerosisfamilial multiple trichoepithelioma
✦AI Summary

CYLD is a deubiquitinase that specifically cleaves lysine-63 (K63)- and linear (Met-1)-linked polyubiquitin chains, functioning as a critical negative regulator of inflammatory signaling and cell proliferation 1. Primary functions include negatively regulating NF-ΞΊB activation by deubiquitinating upstream signaling factors, thereby suppressing inflammation and modulating cell survival and differentiation 23. CYLD removes K63-linked ubiquitin chains from MAP3K7 (TAK1), inhibiting downstream JNK-p38 kinase activation 4, and from MAP3K1/MAP3K3, blocking their interaction with MEK1/2 5. Additionally, CYLD removes linear polyubiquitin from RIPK1 and RIPK2, regulating TNF-induced necroptosis and innate immune responses 67. CYLD also modulates microtubule dynamics by inhibiting HDAC6, promoting Ξ±-tubulin acetylation and stabilization 8. In disease contexts, CYLD loss-of-function mutations cause CYLD cutaneous syndrome, characterized by multiple benign head and neck tumors with malignant potential 9. CYLD acts as a tumor suppressor in prostate cancer, promoting ferroptosis through Hippo/YAP pathway regulation 10, and mitigates nonalcoholic steatohepatitis by suppressing hepatic inflammation and fibrosis 4. Conversely, gain-of-function variants associate with neurodegenerative disease 1.

Sources cited
1
CYLD structure, function in immunity/cancer, and distinction between loss-of-function (CYLD cutaneous syndrome) and gain-of-function (neurodegeneration) variants
PMID: 37387450
2
CYLD negatively regulates NF-ΞΊB activation by deubiquitinating upstream signaling factors
PMID: 12917689
3
CYLD negatively regulates NF-ΞΊB activation
PMID: 12917691
4
CYLD removes K63-linked polyubiquitin chains from TAK1, blocking JNK-p38 cascade activation; CYLD mitigates NASH progression
PMID: 29291351
5
CYLD removes K63-linked polyubiquitin chains from MAP3K1 and MAP3K3, inhibiting their interaction with MEK1/2
PMID: 34497368
6
CYLD removes linear polyubiquitin chains from RIPK1, regulating TNF-induced necroptosis
PMID: 26670046
7
CYLD regulates innate immunity by removing linear polyubiquitin from RIPK2 in response to NOD2 stimulation
PMID: 26997266
8
CYLD inhibits HDAC6, promoting Ξ±-tubulin acetylation and microtubule stabilization
PMID: 19893491
9
CYLD germline mutations cause CYLD cutaneous syndrome with benign head and neck tumors with malignant potential
PMID: 31093340
10
CYLD suppresses prostate cancer progression and promotes ferroptosis via Hippo/YAP signaling
PMID: 38246916
Disease Associationsβ“˜24
Brooke-Spiegler syndromeOpen Targets
0.73Strong
familial cylindromatosisOpen Targets
0.72Strong
frontotemporal dementia and/or amyotrophic lateral sclerosisOpen Targets
0.68Moderate
familial multiple trichoepitheliomaOpen Targets
0.59Moderate
trichoepithelioma, multiple familial, 1Open Targets
0.51Moderate
multiple myelomaOpen Targets
0.49Moderate
benign neoplasm of skinOpen Targets
0.47Moderate
inflammatory bowel diseaseOpen Targets
0.41Moderate
Crohn's diseaseOpen Targets
0.41Moderate
adnexal spiradenoma/cylindroma of a sweat glandOpen Targets
0.38Weak
benign spiradenomaOpen Targets
0.37Weak
skin basal cell carcinomaOpen Targets
0.37Weak
trichoblastomaOpen Targets
0.37Weak
bile duct carcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
hemangioblastomaOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
superficial spreading melanomaOpen Targets
0.37Weak
Thymic Squamous Cell CarcinomaOpen Targets
0.37Weak
Brooke-Spiegler syndromeUniProt
Cylindromatosis, familialUniProt
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8UniProt
Trichoepithelioma, multiple familial, 1UniProt
Pathogenic Variants73
NM_001378743.1(CYLD):c.2806C>T (p.Arg936Ter)Pathogenic
Brooke-Spiegler syndrome|Familial cylindromatosis|Familial multiple trichoepitheliomata|Familial cylindromatosis;Brooke-Spiegler syndrome;Frontotemporal dementia and/or amyotrophic lateral sclerosis 8;Trichoepithelioma, multiple familial, 1|Multiple monogenic benign skin tumours|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 936
NM_001378743.1(CYLD):c.2299A>T (p.Lys767Ter)Pathogenic
Familial cylindromatosis|Brooke-Spiegler syndrome|Frontotemporal dementia and/or amyotrophic lateral sclerosis 8|SLC35A2-congenital disorder of glycosylation|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 767
NM_001378743.1(CYLD):c.1112C>A (p.Ser371Ter)Pathogenic
Familial cylindromatosis|not provided|Brooke-Spiegler syndrome;Familial cylindromatosis;Trichoepithelioma, multiple familial, 1|Frontotemporal dementia and/or amyotrophic lateral sclerosis 8|Brooke-Spiegler syndrome;Familial cylindromatosis;Frontotemporal dementia and/or amyotrophic lateral sclerosis 8;Trichoepithelioma, multiple familial, 1|Multiple monogenic benign skin tumours|Brooke-Spiegler syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 371
NM_001378743.1(CYLD):c.2272C>T (p.Arg758Ter)Pathogenic
Familial cylindromatosis|not specified|not provided|Brooke-Spiegler syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 758
NM_001378743.1(CYLD):c.831_834del (p.Asp277fs)Pathogenic
Familial cylindromatosis|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 277
NM_001378743.1(CYLD):c.2291_2295del (p.Lys764fs)Pathogenic
Familial cylindromatosis|Brooke-Spiegler syndrome;Familial cylindromatosis;Trichoepithelioma, multiple familial, 1|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 764
NM_001378743.1(CYLD):c.1111del (p.Ser371fs)Pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 371
NM_001378743.1(CYLD):c.1537dup (p.Cys513fs)Pathogenic
Brooke-Spiegler syndrome|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 513
NM_001378743.1(CYLD):c.1896T>A (p.Tyr632Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 632
NM_001378743.1(CYLD):c.2541G>A (p.Trp847Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 847
NM_001378743.1(CYLD):c.2469+1G>APathogenic
Familial cylindromatosis|not provided
β˜…β˜†β˜†β˜†2025
NM_001378743.1(CYLD):c.1165dup (p.Thr389fs)Pathogenic
Multiple monogenic benign skin tumours
β˜…β˜†β˜†β˜†2025β†’ Residue 389
NM_001378743.1(CYLD):c.1774A>T (p.Lys592Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 592
NM_001378743.1(CYLD):c.1469G>A (p.Trp490Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 490
NM_001378743.1(CYLD):c.1256T>G (p.Leu419Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 419
NM_001378743.1(CYLD):c.703A>T (p.Arg235Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 235
NM_001378743.1(CYLD):c.963_970delinsATGG (p.Phe321fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 321
NM_001378743.1(CYLD):c.1477C>T (p.Gln493Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 493
NM_001378743.1(CYLD):c.1950-2A>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001378743.1(CYLD):c.1660C>T (p.Gln554Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 554
View on ClinVar β†—
Related Genes
BIRC2Protein interaction100%BIRC3Protein interaction100%CASP8Protein interaction100%TRADDProtein interaction100%IKBKBProtein interaction100%TNFProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
38%
Heart
31%
Lung
29%
Ovary
21%
Liver
18%
Gene Interaction Network
Click a node to explore
CYLDBIRC2BIRC3CASP8TRADDIKBKBTNF
PROTEIN STRUCTURE
Preparing viewer…
PDB7OWD Β· 1.71 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.33Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.21 [0.14–0.33]
RankingsWhere CYLD stands among ~20K protein-coding genes
  • #914of 20,598
    Most Researched348 Β· top 5%
  • #1,003of 5,498
    Most Pathogenic Variants73 Β· top quartile
  • #1,332of 17,882
    Most Constrained (LOEUF)0.33 Β· top 10%
Genes detectedCYLD
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
TRIM15 and CYLD regulate ERK activation via lysine-63-linked polyubiquitination.
PMID: 34497368
Nat Cell Biol Β· 2021
1.00
2
CYLD in health and disease.
PMID: 37387450
Dis Model Mech Β· 2023
0.90
3
CYLD regulates cell ferroptosis through Hippo/YAP signaling in prostate cancer progression.
PMID: 38246916
Cell Death Dis Β· 2024
0.80
4
Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death.
PMID: 34363755
Cell Β· 2021
0.70
5
TRIM47 drives gastric cancer cell proliferation and invasion by regulating CYLD protein stability.
PMID: 39516831
Biol Direct Β· 2024
0.68