Gene Gene information from NCBI Gene database.
Entrez ID 1540
Gene name CYLD lysine 63 deubiquitinase
Gene symbol CYLD
Synonyms (NCBI Gene)
BRSSCDMTCYLD1CYLDIEACFTDALS8MFTMFT1SBSTEMUSPL2
Chromosome 16
Chromosome location 16q12.1
Summary This gene is encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme. Mutations in this gene have been associated with cylindromatosis, multiple familial tric
SNPs SNP information provided by dbSNP.
15
SNP ID Visualize variation Clinical significance Consequence
rs764952788 C>A,T Pathogenic Missense variant, coding sequence variant, stop gained, non coding transcript variant
rs886040868 TGGA>- Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
rs886040869 ->C Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
rs886040870 CAAGAGGTGT>- Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
rs886040871 ->AG Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
514
miRTarBase ID miRNA Experiments Reference
MIRT004211 hsa-miR-197-3p Microarray 16822819
MIRT005595 hsa-miR-181b-5p Luciferase reporter assayqRT-PCR 20797623
MIRT006978 hsa-miR-182-5p Luciferase reporter assayqRT-PCRWestern blot 23006329
MIRT006978 hsa-miR-182-5p Luciferase reporter assayqRT-PCRWestern blot 23006329
MIRT044462 hsa-miR-320a CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
LEF1 Repression 22157808
LEF1 Unknown 24577083
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
101
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0004843 Function Cysteine-type deubiquitinase activity IBA
GO:0004843 Function Cysteine-type deubiquitinase activity IDA 18313383, 18636086, 27458237, 27591049
GO:0004843 Function Cysteine-type deubiquitinase activity IEA
GO:0004843 Function Cysteine-type deubiquitinase activity TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605018 2584 ENSG00000083799
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NQC7
Protein name Ubiquitin carboxyl-terminal hydrolase CYLD (EC 3.4.19.12) (Deubiquitinating enzyme CYLD) (Ubiquitin thioesterase CYLD) (Ubiquitin-specific-processing protease CYLD)
Protein function Deubiquitinase that specifically cleaves 'Lys-63'- and linear 'Met-1'-linked polyubiquitin chains and is involved in NF-kappa-B activation and TNF-alpha-induced necroptosis (PubMed:18313383, PubMed:18636086, PubMed:26670046, PubMed:26997266, Pub
PDB 1IXD , 1WHL , 1WHM , 2VHF , 7OWC , 7OWD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01302 CAP_GLY 127 202 CAP-Gly domain Domain
PF16607 CYLD_phos_site 307 471 Disordered
PF01302 CAP_GLY 472 539 CAP-Gly domain Domain
PF00443 UCH 592 894 Ubiquitin carboxyl-terminal hydrolase Family
Tissue specificity TISSUE SPECIFICITY: Detected in fetal brain, testis, and skeletal muscle, and at a lower level in adult brain, leukocytes, liver, heart, kidney, spleen, ovary and lung. Isoform 2 is found in all tissues except kidney. {ECO:0000269|PubMed:10835629, ECO:000
Sequence
MSSGLWSQEKVTSPYWEERIFYLLLQECSVTDKQTQKLLKVPKGSIGQYIQDRSVGHSRI
PSAKGKKNQIGLKILEQPHAVLFVDEKDVVEINEKFTELLLAITNCEERFSLFKNRNRLS
KGLQIDVGCPVKVQLRSGEEKFPGVVRFRGPLLAERTVSGIFFGVELLEEGRGQGFTDGV
YQGKQLFQCDEDCGVFVALDKL
ELIEDDDTALESDYAGPGDTMQVELPPLEINSRVSLKV
GETIESGTVIFCDVLPGKESLGYFVGVDMDNPIGNWDGRFDGVQLCSFACVESTILLHIN
DIIPALSESVTQERRPPKLAFMSRGVGDKGSSSHNKPKATGSTSDPGNRNRSELFYTLNG
SSVDSQPQSKSKNTWYIDEVAEDPAKSLTEISTDFDRSSPPLQPPPVNSLTTENRFHSLP
FSLTKMPNTNGSIGHSPLSLSAQSVMEELNTAPVQESPPLAMPPGNSHGLE
VGSLAEVKE
NPPFYGVIRWIGQPPGLNEVLAGLELEDECAGCTDGTFRGTRYFTCALKKALFVKLKSC
R
PDSRFASLQPVSNQIERCNSLAFGGYLSEVVEENTPPKMEKEGLEIMIGKKKGIQGHYNS
CYLDSTLFCLFAFSSVLDTVLLRPKEKNDVEYYSETQELLRTEIVNPLRIYGYVCATKIM
KLRKILEKVEAASGFTSEEKDPEEFLNILFHHILRVEPLLKIRSAGQKVQDCYFYQIFME
KNEKVGVPTIQQLLEWSFINSNLKFAEAPSCLIIQMPRFGKDFKLFKKIFPSLELNITDL
LEDTPRQCRICGGLAMYECRECYDDPDISAGKIKQFCKTCNTQVHLHPKRLNHKYNPVSL
PKDLPDWDWRHGCIPCQNMELFAVLCIETSHYVAFVKYGKDDSAWLFFDSMADR
DGGQNG
FNIPQVTPCPEVGEYLKMSLEDLHSLDSRRIQGCARRLLCDAYMCMYQSPTMSLYK
Sequence length 956
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  NF-kappa B signaling pathway
Necroptosis
Osteoclast differentiation
RIG-I-like receptor signaling pathway
C-type lectin receptor signaling pathway
TNF signaling pathway
  NOD1/2 Signaling Pathway
TNFR1-induced proapoptotic signaling
Regulation of TNFR1 signaling
TNFR1-induced NFkappaB signaling pathway
Ub-specific processing proteases
Negative regulators of DDX58/IFIH1 signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
551
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Brooke-Spiegler syndrome Likely pathogenic; Pathogenic rs2506862962, rs2506903755, rs121908388, rs1597088499, rs2506802256, rs121908389, rs121908390, rs1597052041, rs886040870, rs886040872, rs886040874, rs886040875, rs886040884, rs886040885, rs886040887
View all (1 more)
RCV002462824
RCV002466819
RCV005234779
RCV000005567
RCV000005568
RCV000005572
RCV000005575
RCV000005577
RCV000257938
RCV001814137
RCV000257987
RCV000257947
RCV000257955
RCV000257982
RCV003988838
RCV002466483
CYLD-related disorder Pathogenic; Likely pathogenic rs2506820899, rs1971543762 RCV003408406
RCV003922067
Familial cylindromatosis Pathogenic; Likely pathogenic rs1597091470, rs121908388, rs1597088499, rs121908390, rs1596971597, rs2151015263, rs886040868, rs886040869, rs886040871, rs886040872, rs764952788, rs886040873, rs886040876, rs886040879, rs886040882
View all (10 more)
RCV000005564
RCV000005565
RCV000005566
RCV000005573
RCV000005576
RCV000005578
RCV000257953
RCV000257981
RCV000257964
RCV000257976
RCV000257934
RCV000257960
RCV000257967
RCV000257974
RCV000257975
RCV000258001
RCV000257950
RCV000257977
RCV000257951
RCV000257985
RCV000257939
RCV000257968
RCV000257992
RCV003994641
RCV001257399
Familial multiple trichoepitheliomata Pathogenic; Likely pathogenic rs1597085967, rs1597058708, rs121908389, rs121908390 RCV000005569
RCV000005570
RCV000005571
RCV000005574
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs11865799 RCV005894485
Cervical cancer Likely benign; Benign rs78544610, rs11865799 RCV005919339
RCV005894487
Gastric cancer -; Benign rs2151039787, rs11865799 RCV005922777
RCV005894489
Hepatocellular carcinoma Uncertain significance rs371683706 RCV005927735
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acrospiroma Associate 31101826
Adenocarcinoma Associate 29463883
Adenocarcinoma of Lung Associate 29286108, 31860169
Alzheimer Disease Associate 36000313
Amyotrophic Lateral Sclerosis Associate 36000313
Anus Neoplasms Associate 32461623
Autoimmune Diseases Associate 26276688
Bisphosphonate Associated Osteonecrosis of the Jaw Associate 32705175
Carcinogenesis Associate 12917690, 16900776, 17495026, 26276688
Carcinoma Adenoid Cystic Associate 15854031, 16627981, 16900776, 17495026, 21552290, 23778141, 25951887, 26660106, 26969893, 29569226, 31101826, 32461623, 32892208