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Cyld Gene Detail
Summary
  • Symbol
    Cyld
  • Name
    cylindromatosis (turban tumor syndrome)
  • Synonyms
    2010013M14Rik, 2900009M21Rik, C130039D01Rik, CYLD1, mKIAA0849
  • Feature Type
    protein coding gene
  • IDs
    MGI:1921506
    NCBI Gene: 74256
Location & Maps
more
  • Sequence Map
    Chr8:88697028-88751945 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      54918 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    CYLD, cylindromatosis (turban tumor syndrome)
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CYLD, cylindromatosis (turban tumor syndrome)
    Orthology source: HomoloGene
  • Synonyms
    BRSS, CDMT, CYLD1, CYLDI, EAC, MFT, MFT1, SBS, TEM, USPL2
  • Links
    NCBI Gene ID: 1540
    neXtProt AC: NX_Q9NQC7

  • Chr Location
    16q12.1; chr16:50742050-50801936 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 9069
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: CYLD
  • Gene Tree
Human Diseases
more
  • Diseases
    3 with human CYLD associations

Human Disease Mouse Models
       Brooke-Spiegler Syndrome; BRSS   OMIM: 605041
Cylindromatosis, Familial   OMIM: 132700
Trichoepithelioma, Multiple Familial, 1   OMIM: 601606
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    61 phenotypes from 8 alleles in 6 genetic backgrounds
    6 phenotypes from multigenic genotypes
    1 images
    63 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    12
  • Radiation induced
    1
  • Targeted
    11
  • Genomic Mutations
    1 involving Cyld
  • Incidental Mutations
Various knockout models with different exon deletions have been created. Observed phenotypes include altered T cell and B cell development, susceptibility to induced skin tumors, resistance to lethal lung infection, high colon tumor incidence, kinky tails, and neonatal death due to lung dysfunction.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000036712 Ensembl Gene Model | MGI Sequence Detail 54918 C57BL/6J ±  kb
transcript ENSMUST00000098519 Ensembl | MGI Sequence Detail 7954 Not Applicable  
polypeptide ENSMUSP00000096119 Ensembl | MGI Sequence Detail 955 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    400 from dbSNP Build 137
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000031671 ubiquitin carboxyl-terminal hydrolase CYLD
  • EC
  • InterPro Domains
    IPR000938 CAP Gly-rich domain
    IPR001394 Peptidase C19, ubiquitin carboxyl-terminal hydrolase
    IPR018200 Ubiquitin specific protease, conserved site
    IPR028889 Ubiquitin specific protease domain
Molecular
Reagents
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  • All nucleic 14
    cDNA 14

    Microarray probesets 7
Other
Accession IDs
less
MGI:1920125, MGI:2445104
References
more
  • Summaries
    All 68
    Developmental Gene Expression 1
    Gene Ontology 11
    Phenotypes 63
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:225580 Zhao Y, et al., CYLD and the NEMO Zinc Finger Regulate Tumor Necrosis Factor Signaling and Early Embryogenesis. J Biol Chem. 2015 Sep 4;290(36):22076-84

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory