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
External Ids for CYLD Gene
- HGNC: 2584
- Entrez Gene: 1540
- Ensembl: ENSG00000083799
- OMIM: 605018
- UniProtKB: Q9NQC7
Previous HGNC Symbols for CYLD Gene
- CYLD1
Previous GeneCards Identifiers for CYLD Gene
- GC16P041189
- GC16P050823
- GC16P050505
- GC16P050554
- GC16P049333
- GC16P036663
- GC16P050775
Summaries 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).
Additional gene information for CYLD Gene
- Monarch Initiative
- Search for CYLD at DataMed
- Search for CYLD at HumanCyc
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
- 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:
Regulatory Element Products
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:
-
- 16q12.1 by Entrez Gene
- 16q12.1 by HGNC
- 16q12.1 by Ensembl
CYLD Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression 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
Other Protein References for CYLD Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for CYLD
- Invitrogen Antibodies for CYLD
- GeneTex CYLD Antibody for CYLD
-
Boster Bio Antibodies for CYLD
-
Santa Cruz Biotechnology (SCBT) Antibodies for CYLD
Protein Products
- R&D Systems Proteins and Enzymes for CYLD
- Search Origene for MassSpec and Protein Over-expression Lysates for CYLD
- Origene Custom Protein Services for CYLD
- Search GeneTex for Proteins for CYLD
Assay Products
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
Protein Domains for CYLD Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CYLD Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9NQC7- Family:
-
- Belongs to the peptidase C19 family.
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
| 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 | -- |
Phenotypes for CYLD Gene
- MGI mutant phenotypes for CYLD:
-
inferred from 9 alleles
- respiratory system phenotype
- limbs/digits/tail phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- behavior/neurological phenotype
- neoplasm
- integument phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- normal phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for CYLD:
-
- Increased mitotic index
- Reduced shRNA abundance in FBW7 KO line
- Increased shRNA abundance (Z-score > 2)
- Increased ID2::GFP protein expression
- Increased cell death HMECs cells
- Decreased shRNA abundance
- Increased NF-kappaB reporter activity
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Synthetic lethal with Ras
- Upregulation of NF-kappaB pathway after LMP1 stimulation
- Decreased caspase 3/7 activity
- shRNA abundance <= 50%
Animal Models for CYLD Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for CYLD
- Cyagen custom Knockout/knockin (KOKI) mouse models for CYLD
-
CRISPR Products
-
OriGene CRISPR knockouts for CYLD
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CYLD
- genomics-online: gRNA clones - Search results for 119 available CYLD gene related products
- Overview of 119 available CYLD gene related products
- Applied Biological Materials CRISPR for CYLD
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CYLD
- GenScript: Design CRISPR guide RNA sequences for CYLD
miRNA for CYLD Gene
- miRTarBase miRNAs that target CYLD
-
- hsa-mir-197-3p (MIRT004211)
- hsa-mir-181b-5p (MIRT005595)
- hsa-mir-182-5p (MIRT006978)
- hsa-mir-320a (MIRT044462)
- hsa-mir-362-5p (MIRT053602)
- hsa-mir-500a-5p (MIRT054270)
- hsa-mir-17-5p (MIRT074788)
- hsa-mir-20a-5p (MIRT074789)
- hsa-mir-93-5p (MIRT074790)
- hsa-mir-106b-5p (MIRT074792)
- hsa-mir-20b-5p (MIRT074795)
- hsa-mir-519d-3p (MIRT074799)
- hsa-mir-4789-5p (MIRT543275)
- hsa-mir-3941 (MIRT543276)
- hsa-mir-5011-5p (MIRT543277)
- hsa-mir-5580-3p (MIRT543278)
- hsa-mir-603 (MIRT543279)
- hsa-mir-362-3p (MIRT543280)
- hsa-mir-329-3p (MIRT543281)
- hsa-mir-8485 (MIRT543282)
- hsa-mir-6833-3p (MIRT613169)
- hsa-mir-4768-5p (MIRT613170)
- hsa-mir-6873-3p (MIRT613171)
- hsa-mir-6740-3p (MIRT613172)
- hsa-mir-942-5p (MIRT613173)
- hsa-mir-6817-3p (MIRT613174)
- hsa-mir-7110-3p (MIRT613175)
- hsa-mir-6845-3p (MIRT613176)
- hsa-mir-605-5p (MIRT613451)
- hsa-mir-384 (MIRT640119)
- hsa-mir-3685 (MIRT640120)
- hsa-mir-1200 (MIRT640121)
- hsa-mir-7975 (MIRT640122)
- hsa-mir-378a-5p (MIRT640123)
- hsa-mir-5571-3p (MIRT640124)
- hsa-mir-6744-3p (MIRT640125)
- hsa-mir-4757-5p (MIRT640126)
- hsa-mir-6781-3p (MIRT640127)
- hsa-mir-2682-3p (MIRT640128)
- hsa-mir-1236-3p (MIRT640129)
- hsa-mir-3140-5p (MIRT640130)
- hsa-mir-3142 (MIRT640131)
- hsa-mir-877-3p (MIRT640132)
- hsa-mir-1245b-5p (MIRT640133)
- hsa-mir-335-3p (MIRT668807)
- hsa-mir-3156-3p (MIRT668808)
- hsa-mir-188-3p (MIRT668809)
- hsa-mir-7106-5p (MIRT668810)
- hsa-mir-765 (MIRT668811)
- hsa-mir-7154-3p (MIRT668812)
- hsa-mir-659-5p (MIRT668813)
- hsa-mir-4751 (MIRT668814)
- hsa-mir-3667-3p (MIRT668815)
- hsa-mir-4301 (MIRT668816)
- hsa-mir-4528 (MIRT668817)
- hsa-mir-6754-5p (MIRT668818)
- hsa-mir-4441 (MIRT668819)
- hsa-mir-4270 (MIRT668820)
- hsa-mir-211-3p (MIRT668821)
- hsa-mir-4756-5p (MIRT668822)
- hsa-mir-1321 (MIRT668823)
- hsa-mir-4739 (MIRT668824)
- hsa-mir-195-5p (MIRT727907)
- hsa-mir-16-5p (MIRT727908)
- hsa-mir-15b-5p (MIRT727909)
- hsa-mir-15a-5p (MIRT727910)
- hsa-mir-130b-3p (MIRT732122)
- hsa-mir-922 (MIRT735106)
- hsa-mir-126-5p (MIRT735125)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CYLD
- Browse OriGene Inhibitory RNA Products For CYLD
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYLD
- genomics-online: shRNA clones - Search results for 119 available CYLD gene related products
- Overview of 119 available CYLD gene related products
Clone Products
-
OriGene ORF clones in human for CYLD
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- VectorBuilder custom plasmid, inducible vectors for CYLD
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CYLD
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for CYLD
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CYLD
- Applied Biological Materials Clones for CYLD
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines 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}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytoskeleton | 5 |
| cytosol | 5 |
| nucleus | 3 |
| lysosome | 2 |
| extracellular | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
- Microtubule organizing center (3)
- Nucleoplasm (2)
| 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 | -- |
Pathways & Interactions for CYLD Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | TNF signaling (REACTOME) |
.86
|
|
| 2 | RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways | ||
| 3 | Deubiquitination |
.74
|
|
| 4 | Innate Immune System |
.61
|
|
| 5 | Metabolism of proteins | ||
Pathways by source for CYLD Gene
4 BioSystems pathways for CYLD Gene
16 Reactome pathways for CYLD Gene
4 KEGG pathways for CYLD Gene
1 R&D Systems pathway for CYLD Gene
2 Cell Signaling Technology pathways for CYLD Gene
Interacting Proteins for CYLD Gene
Selected Interacting proteins:
Q9NQC7-CYLD_HUMAN
ENSP00000308928
for CYLD Gene via
IID
UniProtKB
MINT
STRING
GPS-Prot Interaction Network for CYLD
SIGNOR curated interactions 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 |
Drugs & Compounds for CYLD Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Water | Approved | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for CYLD Gene
mRNA/cDNA for CYLD Gene
- (263) Selected AceView cDNA sequences:
- (13) Additional mRNA sequences :
- (13) REFSEQ mRNAs :
- (16) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000311559 5371 bps (uc059ubu.1)
- ENST00000398568 3536 bps (uc002egr.2)
- ENST00000427738 8503 bps (uc059ubz.1)
- ENST00000562884 725 bps (uc059ucf.1)
- ENST00000563629 2568 bps (uc059ucb.1)
Unigene Clusters for CYLD Gene
CRISPR Products
-
OriGene CRISPR knockouts for CYLD
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CYLD
- genomics-online: gRNA clones - Search results for 119 available CYLD gene related products
- Overview of 119 available CYLD gene related products
- Applied Biological Materials CRISPR for CYLD
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CYLD
- GenScript: Design CRISPR guide RNA sequences for CYLD
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CYLD
- Browse OriGene Inhibitory RNA Products For CYLD
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYLD
- genomics-online: shRNA clones - Search results for 119 available CYLD gene related products
- Overview of 119 available CYLD gene related products
Clone Products
-
OriGene ORF clones in human for CYLD
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- VectorBuilder custom plasmid, inducible vectors for CYLD
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CYLD
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for CYLD
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CYLD
- Applied Biological Materials Clones for CYLD
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression for CYLD Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Gut Tube (Gastrointestinal Tract)
- Blood (Cardiovascular System)
-
Thymus (Hematopoietic System)
- T Helper Cells Thymus
- Bone (Muscoskeletal System)
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
NURSA nuclear receptor signaling pathways regulating expression of CYLD Gene:
CYLDSOURCE GeneReport for Unigene cluster for CYLD Gene:
Hs.578973mRNA 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
Primer Products
-
OriGene qPCR primer pairs and template standards for CYLD
-
OriGene qPCR primer pairs for CYLD
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CYLD 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | CYLD 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CYLD 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CYLD 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CYLD 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Cyld 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Cyld 33 |
|
||
| chicken (Gallus gallus) |
Aves | CYLD 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CYLD 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cyld 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.11446 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cylda 34 33 |
|
OneToOne | |
| Dr.18343 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | CYLD 34 33 |
|
OneToOne | |
| CG5603 35 |
|
|
|||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008412 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | F40F12.5a 35 |
|
|
|
| cyld-1 34 |
|
OneToOne | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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
No data available for Paralogs for CYLD Gene
Variants 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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYLD Gene
Disorders for CYLD Gene
(13) MalaCards diseases for CYLD Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cylindromatosis, familial |
|
|
| brooke-spiegler syndrome |
|
|
| trichoepithelioma, multiple familial, 1 |
|
|
| multiple familial trichoepithelioma |
|
|
| spiradenoma |
|
|
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
No data available for Genatlas for CYLD Gene
Publications for CYLD Gene
- 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
- 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
- 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
- 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
- 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
Products for CYLD Gene
- Browse R&D Systems for Antibodies
- R&D Systems Proteins and Enzymes for CYLD
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
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- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for CYLD
- Origene Custom Protein Services for CYLD
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CYLD
- Browse OriGene Inhibitory RNA Products For CYLD
- OriGene qPCR primer pairs and template standards for CYLD
- OriGene qPCR primer pairs for CYLD
- OriGene CRISPR knockouts for CYLD
- OriGene ORF clones in human for CYLD
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CYLD
- GenScript: Next-day shipping of latest version cDNA ORF clones for CYLD in any vector
- GenScript Custom Purified and Recombinant Proteins Services for CYLD
- GenScript Custom Assay Services for CYLD
- GenScript Custom overexpressing Cell Line Services for CYLD
- GenScript: Design CRISPR guide RNA sequences for CYLD
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for CYLD
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for CYLD
- Novus Biologicals lysates and proteins for CYLD
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Taconic Biosciences Mouse Models for CYLD
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- VectorBuilder custom plasmid, inducible vectors for CYLD
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CYLD
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for CYLD
- antibodies-online: Search results for 79 available CYLD Antibodies ranked by validation data
- Compare Top CYLD Antibodies
- antibodies-online: Search results for 9 available CYLD Elisa Kits ranked by validation data
- Compare Top CYLD Elisa Kits
- antibodies-online: Search results for 8 available CYLD Proteins ranked by validation data
- Compare Top CYLD Proteins
- GeneTex CYLD Antibody for CYLD
- Search GeneTex for Proteins for CYLD
- Santa Cruz Biotechnology (SCBT) Antibodies for CYLD
- Search Santa Cruz Biotechnology (SCBT) for CYLD siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CYLD
- Horizon Cell Lines for CYLD
- genomics-online: cdna clones - Search results for 119 available CYLD gene related products
- Overview of 119 available CYLD gene related products
- orf clones - Search results for 119 available CYLD gene related products
- Overview of 119 available CYLD gene related products
- genomics-online: gRNA clones - Search results for 119 available CYLD gene related products
- Overview of 119 available CYLD gene related products
- genomics-online: primer clones - Search results for 119 available CYLD gene related products
- Overview of 119 available CYLD gene related products
- genomics-online: shRNA clones - Search results for 119 available CYLD gene related products
- Overview of 119 available CYLD gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CYLD
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CYLD
- GeneCopoeia miRNA 3'UTR Target clone products for CYLD
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYLD
- Boster Bio Antibodies for CYLD
- Browse Boster Bio ELISA Kits
Sources for CYLD Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio