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Aliases for CYLD Gene

Aliases for CYLD Gene

  • CYLD Lysine 63 Deubiquitinase 2 3 5
  • Ubiquitin-Specific-Processing Protease CYLD 3 4
  • Cylindromatosis (Turban Tumor Syndrome) 2 3
  • Ubiquitin Specific Peptidase Like 2 2 3
  • Deubiquitinating Enzyme CYLD 3 4
  • Ubiquitin Thioesterase CYLD 3 4
  • CYLD1 3 4
  • Probable Ubiquitin Carboxyl-Terminal Hydrolase CYLD 3
  • Ubiquitin Carboxyl-Terminal Hydrolase CYLD 3
  • Ubiquitin Thiolesterase CYLD 3
  • EC 3.4.19.12 4
  • KIAA0849 4
  • CYLDI 3
  • USPL2 3
  • BRSS 3
  • CDMT 3
  • MFT1 3
  • EAC 3
  • MFT 3
  • SBS 3
  • TEM 3

External Ids for CYLD Gene

Previous HGNC Symbols for CYLD Gene

  • CYLD1

Previous GeneCards Identifiers for CYLD Gene

  • GC16P041189
  • GC16P050823
  • GC16P050505
  • GC16P050554
  • GC16P049333
  • GC16P036663
  • GC16P050775

Summaries for CYLD Gene

Entrez Gene Summary for CYLD Gene

  • 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 trichoepithelioma, and Brooke-Spiegler syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for CYLD Gene

CYLD (CYLD Lysine 63 Deubiquitinase) is a Protein Coding gene. Diseases associated with CYLD include Cylindromatosis, Familial and Brooke-Spiegler Syndrome. Among its related pathways are Toll-like Receptor Signaling Pathway and Canonical NF-kappaB pathway. Gene Ontology (GO) annotations related to this gene include protein kinase binding and thiol-dependent ubiquitin-specific protease activity.

UniProtKB/Swiss-Prot for CYLD Gene

  • Deubiquitinase that specifically cleaves Lys-63-linked polyubiquitin chains. Has endodeubiquitinase activity. Plays an important role in the regulation of pathways leading to NF-kappa-B activation (PubMed:12917689, PubMed:12917691). Contributes to the regulation of cell survival, proliferation and differentiation via its effects on NF-kappa-B activation (PubMed:12917690). Negative regulator of Wnt signaling (PubMed:20227366). Inhibits HDAC6 and thereby promotes acetylation of alpha-tubulin and stabilization of microtubules (PubMed:19893491). Plays a role in the regulation of microtubule dynamics, and thereby contributes to the regulation of cell proliferation, cell polarization, cell migration, and angiogenesis (PubMed:18222923, PubMed:20194890). Required for normal cell cycle progress and normal cytokinesis (PubMed:17495026, PubMed:19893491). Inhibits nuclear translocation of NF-kappa-B. Plays a role in the regulation of inflammation and the innate immune response, via its effects on NF-kappa-B activation (PubMed:18636086). Dispensable for the maturation of intrathymic natural killer cells, but required for the continued survival of immature natural killer cells. Negatively regulates TNFRSF11A signaling and osteoclastogenesis (By similarity). Involved in the regulation of ciliogenesis, allowing ciliary basal bodies to migrate and dock to the plasma membrane; this process does not depend on NF-kappa-B activation (By similarity). Also able to remove linear (Met-1-linked) polyubiquitin chains to regulate innate immunity: recruited to the LUBAC complex and, together with OTULIN, restricts linear polyubiquitin formation on RIPK2 in response to NOD2 stimulation (PubMed:26670046, PubMed:26997266).

Gene Wiki entry for CYLD Gene

Additional gene information for CYLD Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYLD Gene

Genomics for CYLD Gene

GeneHancer (GH) Regulatory Elements for CYLD Gene

Promoters and enhancers for CYLD Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J050740 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 661.5 +2.4 2435 7.7 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF207 ZNF143 CYLD LOC102724907 NOD2 TENT4B SNX20 BRD7 ADCY7 MIR3181 LOC105371251
GH16J050678 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.7 -59.4 -59446 8.8 HDGF PKNOX1 FOXA2 SMAD1 RB1 STAT5A BATF KLF5 IRF4 RAD21 SNX20 NOD2 CYLD BRD7 ADCY7
GH16J050695 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE dbSUPER 10.3 -44.1 -44103 5.4 HDGF PKNOX1 CLOCK ATF1 SMAD1 DMAP1 IRF4 YY1 ZNF766 ZNF207 NOD2 SNX20 CYLD ADCY7 GC16P050707 PIR45400
GH16J050326 Enhancer 0.8 ENCODE dbSUPER 11.1 -414.6 -414639 2.6 CTCF USF2 BACH1 REST RAD21 MITF XRCC5 MTA1 CREM RUNX3 BRD7 CYLD ENSG00000205414 GC16P050338 MIR6771
GH16J050263 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 3.4 -475.4 -475360 5.8 HDGF PKNOX1 SMAD1 FOXA2 ARNT IRF4 POLR2B ZNF766 ZNF207 ZNF143 TENT4B CNEP1R1 BRD7 NKD1 CYLD ADCY7 GC16P050312
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CYLD on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CYLD gene promoter:

Genomic Locations for CYLD Gene

Genomic Locations for CYLD Gene
chr16:50,742,050-50,801,936
(GRCh38/hg38)
Size:
59,887 bases
Orientation:
Plus strand
chr16:50,775,961-50,835,846
(GRCh37/hg19)

Genomic View for CYLD Gene

Genes around CYLD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYLD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYLD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYLD Gene

Proteins for CYLD Gene

  • Protein details for CYLD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQC7-CYLD_HUMAN
    Recommended name:
    Ubiquitin carboxyl-terminal hydrolase CYLD
    Protein Accession:
    Q9NQC7
    Secondary Accessions:
    • O94934
    • Q7L3N6
    • Q96EH0
    • Q9NZX9

    Protein attributes for CYLD Gene

    Size:
    956 amino acids
    Molecular mass:
    107316 Da
    Quaternary structure:
    • Interacts (via CAP-Gly domain) with IKBKG/NEMO (via proline-rich C-terminal region). Interacts with TRAF2 and TRIP. Interacts with PLK1, DVL1, DVL3, MAVS, TBK1, IKKE and DDX58. Interacts (via CAP-Gly domain) with microtubules. Interacts with HDAC6 and BCL3. Interacts with SQSTM1 and MAP3K7. Identified in a complex with TRAF6 and SQSTM1 (By similarity). Interacts with CEP350 (PubMed:25134987). Interacts with RNF31 (PubMed:26997266).
    SequenceCaution:
    • Sequence=AAF29029.1; Type=Frameshift; Positions=776, 808, 932; Evidence={ECO:0000305}; Sequence=BAA74872.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CYLD Gene

    Alternative splice isoforms for CYLD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYLD Gene

Post-translational modifications for CYLD Gene

  • Phosphorylated on several serine residues by IKKA and/or IKKB in response to immune stimuli. Phosphorylation requires IKBKG. Phosphorylation abolishes TRAF2 deubiquitination, interferes with the activation of Jun kinases, and strongly reduces CD40-dependent gene activation by NF-kappa-B.
  • Ubiquitination at posLast=708708, posLast=132132, posLast=121121, and Lys114
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CYLD Gene

Domains & Families for CYLD Gene

Gene Families for CYLD Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q9NQC7

UniProtKB/Swiss-Prot:

CYLD_HUMAN :
  • Belongs to the peptidase C19 family.
Family:
  • Belongs to the peptidase C19 family.
genes like me logo Genes that share domains with CYLD: view

Function for CYLD Gene

Molecular function for CYLD Gene

UniProtKB/Swiss-Prot Function:
Deubiquitinase that specifically cleaves Lys-63-linked polyubiquitin chains. Has endodeubiquitinase activity. Plays an important role in the regulation of pathways leading to NF-kappa-B activation (PubMed:12917689, PubMed:12917691). Contributes to the regulation of cell survival, proliferation and differentiation via its effects on NF-kappa-B activation (PubMed:12917690). Negative regulator of Wnt signaling (PubMed:20227366). Inhibits HDAC6 and thereby promotes acetylation of alpha-tubulin and stabilization of microtubules (PubMed:19893491). Plays a role in the regulation of microtubule dynamics, and thereby contributes to the regulation of cell proliferation, cell polarization, cell migration, and angiogenesis (PubMed:18222923, PubMed:20194890). Required for normal cell cycle progress and normal cytokinesis (PubMed:17495026, PubMed:19893491). Inhibits nuclear translocation of NF-kappa-B. Plays a role in the regulation of inflammation and the innate immune response, via its effects on NF-kappa-B activation (PubMed:18636086). Dispensable for the maturation of intrathymic natural killer cells, but required for the continued survival of immature natural killer cells. Negatively regulates TNFRSF11A signaling and osteoclastogenesis (By similarity). Involved in the regulation of ciliogenesis, allowing ciliary basal bodies to migrate and dock to the plasma membrane; this process does not depend on NF-kappa-B activation (By similarity). Also able to remove linear (Met-1-linked) polyubiquitin chains to regulate innate immunity: recruited to the LUBAC complex and, together with OTULIN, restricts linear polyubiquitin formation on RIPK2 in response to NOD2 stimulation (PubMed:26670046, PubMed:26997266).
UniProtKB/Swiss-Prot CatalyticActivity:
Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by phosphorylation at serine residues.

Enzyme Numbers (IUBMB) for CYLD Gene

Phenotypes From GWAS Catalog for CYLD Gene

Gene Ontology (GO) - Molecular Function for CYLD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003735 NOT structural constituent of ribosome IBA --
GO:0004843 thiol-dependent ubiquitin-specific protease activity IDA 18313383
GO:0005515 protein binding IPI 18636086
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA --
genes like me logo Genes that share ontologies with CYLD: view
genes like me logo Genes that share phenotypes with CYLD: view

Human Phenotype Ontology for CYLD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CYLD Gene

MGI Knock Outs for CYLD:

Animal Model Products

  • Taconic Biosciences Mouse Models for CYLD

miRNA for CYLD Gene

miRTarBase miRNAs that target CYLD

Clone Products

  • Addgene plasmids for CYLD

No data available for Transcription Factor Targets and HOMER Transcription for CYLD Gene

Localization for CYLD Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYLD Gene

Cytoplasm. Cytoplasm, perinuclear region. Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, cilium basal body. Note=Detected at the microtubule cytoskeleton during interphase. Detected at the midbody during telophase. During metaphase, it remains localized to the centrosome but is also present along the spindle (PubMed:25134987). {ECO:0000250 UniProtKB:Q80TQ2, ECO:0000269 PubMed:25134987}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYLD gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 5
nucleus 3
lysosome 2
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubule organizing center (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CYLD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 25134987
GO:0005815 microtubule organizing center IEA --
GO:0005819 spindle IEA,IDA 25134987
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CYLD: view

Pathways & Interactions for CYLD Gene

genes like me logo Genes that share pathways with CYLD: view

SIGNOR curated interactions for CYLD Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for CYLD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002181 NOT cytoplasmic translation IBA --
GO:0006508 proteolysis IEA --
GO:0006511 ubiquitin-dependent protein catabolic process IEA --
GO:0007049 cell cycle IEA --
GO:0007346 regulation of mitotic cell cycle IMP 17495026
genes like me logo Genes that share ontologies with CYLD: view

Drugs & Compounds for CYLD Gene

(2) Drugs for CYLD Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0

(2) Additional Compounds for CYLD Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CYLD: view

Transcripts for CYLD Gene

Unigene Clusters for CYLD Gene

Cylindromatosis (turban tumor syndrome):
Representative Sequences:

Clone Products

  • Addgene plasmids for CYLD

Alternative Splicing Database (ASD) splice patterns (SP) for CYLD Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^
SP1: - - -
SP2: - - -
SP3: -
SP4:
SP5: - -
SP6:
SP7: - -
SP8:

ExUns: 18a · 18b ^ 19 ^ 20a · 20b ^ 21a · 21b · 21c
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for CYLD Gene

GeneLoc Exon Structure for
CYLD
ECgene alternative splicing isoforms for
CYLD

Expression for CYLD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CYLD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CYLD Gene

This gene is overexpressed in Peripheral blood mononuclear cells (30.0) and Lymph node (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CYLD Gene



Protein tissue co-expression partners for CYLD Gene

NURSA nuclear receptor signaling pathways regulating expression of CYLD Gene:

CYLD

SOURCE GeneReport for Unigene cluster for CYLD Gene:

Hs.578973

mRNA Expression by UniProt/SwissProt for CYLD Gene:

Q9NQC7-CYLD_HUMAN
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.

Evidence on tissue expression from TISSUES for CYLD Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Blood(4.4)
  • Kidney(2.7)
  • Skin(2.6)
  • Intestine(2.3)
  • Lung(2.2)
  • Spleen(2.2)
  • Lymph node(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CYLD Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
Regions:
General:
  • blood
  • blood vessel
  • skin
genes like me logo Genes that share expression patterns with CYLD: view

No data available for mRNA differential expression in normal tissues for CYLD Gene

Orthologs for CYLD Gene

This gene was present in the common ancestor of animals.

Orthologs for CYLD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CYLD 34 33
  • 98.71 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CYLD 34
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CYLD 34 33
  • 92.82 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CYLD 34 33
  • 92.58 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYLD 34
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cyld 16 34 33
  • 89.81 (n)
rat
(Rattus norvegicus)
Mammalia Cyld 33
  • 88.77 (n)
chicken
(Gallus gallus)
Aves CYLD 34 33
  • 81.57 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CYLD 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cyld 33
  • 74.72 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.11446 33
zebrafish
(Danio rerio)
Actinopterygii cylda 34 33
  • 66.77 (n)
OneToOne
Dr.18343 33
fruit fly
(Drosophila melanogaster)
Insecta CYLD 34 33
  • 54.16 (n)
OneToOne
CG5603 35
  • 45 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008412 33
  • 53.62 (n)
worm
(Caenorhabditis elegans)
Secernentea F40F12.5a 35
  • 35 (a)
cyld-1 34
  • 15 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
OneToOne
Species where no ortholog for CYLD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CYLD Gene

ENSEMBL:
Gene Tree for CYLD (if available)
TreeFam:
Gene Tree for CYLD (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CYLD: view image

Paralogs for CYLD Gene

(1) SIMAP similar genes for CYLD Gene using alignment to 13 proteins:

  • CYLD_HUMAN
  • D6CJC5_HUMAN
  • D6CJC6_HUMAN
  • D6CJC7_HUMAN
  • D6CJC8_HUMAN
  • F5H2R7_HUMAN
  • H3BPZ5_HUMAN
  • H3BS09_HUMAN
  • H3BSW9_HUMAN
  • H3BTB8_HUMAN
  • I3L117_HUMAN
  • J3KRR7_HUMAN
  • J3QKR2_HUMAN
genes like me logo Genes that share paralogs with CYLD: view

No data available for Paralogs for CYLD Gene

Variants for CYLD Gene

Sequence variations from dbSNP and Humsavar for CYLD Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1013223537 uncertain-significance, Trichoepithelioma multiple familial 2, Cylindromatosis, familial, Spiegler-Brooke syndrome 50,796,911(+) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1024568717 uncertain-significance, Cylindromatosis, familial, Spiegler-Brooke syndrome, Trichoepithelioma multiple familial 2 50,796,976(+) A/C 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1037003270 uncertain-significance, Spiegler-Brooke syndrome, Trichoepithelioma multiple familial 2, Cylindromatosis, familial 50,799,813(+) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs111951225 likely-benign, Spiegler-Brooke syndrome, Cylindromatosis, familial, Trichoepithelioma multiple familial 2 50,799,977(+) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs113748745 likely-benign, Spiegler-Brooke syndrome, Cylindromatosis, familial, Trichoepithelioma multiple familial 2 50,801,075(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CYLD Gene

Variant ID Type Subtype PubMed ID
dgv2977n100 CNV loss 25217958
esv2714463 CNV deletion 23290073
esv2714464 CNV deletion 23290073
esv3638608 CNV gain 21293372
nsv1113806 CNV deletion 24896259
nsv1113807 CNV deletion 24896259
nsv952674 CNV duplication 24416366

Variation tolerance for CYLD Gene

Residual Variation Intolerance Score: 6.72% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.80; 16.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYLD Gene

Human Gene Mutation Database (HGMD)
CYLD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYLD

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYLD Gene

Disorders for CYLD Gene

MalaCards: The human disease database

(13) MalaCards diseases for CYLD Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cylindromatosis, familial
  • ancell-spiegler cylindromas
brooke-spiegler syndrome
  • brss
trichoepithelioma, multiple familial, 1
  • mft1
multiple familial trichoepithelioma
  • epithelioma adenoides cysticum of brooke
spiradenoma
  • benign eccrine spiradenoma
- elite association - COSMIC cancer census association via MalaCards
Search CYLD in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CYLD_HUMAN
  • Cylindromatosis, familial (FCYL) [MIM:132700]: A disorder characterized by multiple skin tumors that develop from skin appendages, such as hair follicles and sweat glands. Affected individuals typically develop large numbers of tumors called cylindromas that arise predominantly in hairy parts of the body with approximately 90% on the head and neck. In severely affected individuals, cylindromas may combine into a confluent mass which may ulcerate or become infected (turban tumor syndrome). Individuals with familial cylindromatosis occasionally develop other types of tumors including spiradenomas that begin in sweat glands, and trichoepitheliomas arising from hair follicles. {ECO:0000269 PubMed:12190880, ECO:0000269 PubMed:16922728}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Multiple familial trichoepithelioma 1 (MFT1) [MIM:601606]: Autosomal dominant dermatosis characterized by the presence of many skin tumors predominantly on the face. Since histologic examination shows dermal aggregates of basaloid cells with connection to or differentiation toward hair follicles, this disorder has been thought to represent a benign hamartoma of the pilosebaceous apparatus. Trichoepitheliomas can degenerate into basal cell carcinoma. {ECO:0000269 PubMed:14632188, ECO:0000269 PubMed:16307661, ECO:0000269 PubMed:16922728}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Brooke-Spiegler syndrome (BRSS) [MIM:605041]: An autosomal dominant disorder characterized by the appearance of multiple skin appendage tumors such as cylindroma, trichoepithelioma, and spiradenoma. These tumors are typically located in the head and neck region, appear in early adulthood, and gradually increase in size and number throughout life. {ECO:0000269 PubMed:12190880, ECO:0000269 PubMed:12950348, ECO:0000269 PubMed:14632188, ECO:0000269 PubMed:15854031}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CYLD

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CYLD: view

No data available for Genatlas for CYLD Gene

Publications for CYLD Gene

  1. Loss of the tumor suppressor CYLD enhances Wnt/beta-catenin signaling through K63-linked ubiquitination of Dvl. (PMID: 20227366) Tauriello DV … Maurice MM (Molecular cell 2010) 3 4 22 58
  2. CYLD negatively regulates cell-cycle progression by inactivating HDAC6 and increasing the levels of acetylated tubulin. (PMID: 19893491) Wickström SA … Massoumi R (The EMBO journal 2010) 3 4 22 58
  3. The tumour suppressor CYLD is a negative regulator of RIG-I-mediated antiviral response. (PMID: 18636086) Friedman CS … Ting AT (EMBO reports 2008) 3 4 22 58
  4. Regulation of the deubiquitinating enzyme CYLD by IkappaB kinase gamma-dependent phosphorylation. (PMID: 15870263) Reiley W … Sun SC (Molecular and cellular biology 2005) 3 4 22 58
  5. A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome. (PMID: 14632188) Hu G … Celebi JT (The Journal of investigative dermatology 2003) 3 4 22 58

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