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KCTD11 Gene

protein-coding   GIFtS: 51
GCID: GC17P007255

Potassium Channel Tetramerization Domain Containing 11

(Previous names: chromosome 17 open reading frame 36, potassium channel tetramerisation...)
(Previous symbol: C17orf36)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Potassium Channel Tetramerization Domain Containing 111 2     REN/KCTD112
C17orf361 2 3     BTB/POZ Domain-Containing Protein KCTD112
Potassium Channel Tetramerisation Domain Containing 111 2     Retinoic Acid, EGF, NGF Induced Gene Protein2
REN2 3     Retinoic Acid, EGF, NGF Induced Gene/Potassium Channel Tetramerization
Domain Containing 112
Chromosome 17 Open Reading Frame 361     REn5
KCASH12     

External Ids:    HGNC: 213021   Entrez Gene: 1470402   Ensembl: ENSG000002138597   OMIM: 6098485   UniProtKB: Q693B13   

Export aliases for KCTD11 gene to outside databases

Previous GC identifers: GC17P007455 GC17P007456 GC17P007196 GC17P007149


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for KCTD11 Gene:
KCTD11 (potassium channel tetramerization domain containing 11) is a protein-coding gene. Diseases associated with KCTD11 include maturity-onset diabetes of the young, and cholera. An important paralog of this gene is KCTD1.

UniProtKB/Swiss-Prot: KCD11_HUMAN, Q693B1
Function: Plays a role as a marker and a regulator of neuronal differentiation; Up-regulated by a variety of
neurogenic signals, such as retinoic acid, epidermal growth factor/EGF and NGFB/nerve growth factor. Induces
apoptosis, growth arrest and the expression of cyclin-dependent kinase inhibitor CDKN1B. Plays a role as a tumor
repressor and inhibits cell growth and tumorigenicity of medulloblastoma (MDB). Acts as an E3 ubiquitin-protein
ligase towards HDAC1, leading to its proteasomal degradation. Functions as antagonist of the Hedgehog pathway on
cell proliferation and differentiation by affecting the nuclear transfer of transcrition factor GLI1, thus
maintaining cerebellar granule cells in undifferentiated state, this effect probably occurs via HDAC1
down-regulation, keeping GLI1 acetylated and inactive. When knock-down, Hedgehog antagonism is impaired and
proliferation of granule cells is sustained. Activates the caspase cascade




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NC_018928.2  NT_010718.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the KCTD11 gene promoter:
         Bach1   Elk-1   RREB-1   NRSF form 1   MyoD   NRSF form 2   E47   Hand1   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCTD11 promoter sequence
   Search Chromatin IP Primers for KCTD11

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCTD11


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.1   Ensembl cytogenetic band:  17p13.1   HGNC cytogenetic band: 17p13.2

KCTD11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCTD11 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P007255:  view genomic region     (about GC identifiers)

Start:
7,255,208 bp from pter      End:
7,258,263 bp from pter
Size:
3,056 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: KCD11_HUMAN, Q693B1 (See protein sequence)
Recommended Name: BTB/POZ domain-containing protein KCTD11  
Size: 232 amino acids; 25887 Da
Subunit: Homotetramer. Component of the BCR(KCTD11) E3 ubiquitin ligase complex, at least composed of CUL3 and
KCTD11 and RBX1. Interacts with CUL3
Miscellaneous: Haploinsufficiency of KCTD11 may be a cause of development of medulloblastoma (MDB). MDB is a
malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. An allelic
deletion involving genes from chromosome region 17p11.2-pter, sometimes restricted to 17p13.2-13.3, occurs in up
to 50% of MDB
Secondary accessions: B3KPE0
Alternative initiation: 2 isoforms:  Q693B1-1   Q693B1-2   (Non-AUG start codon)

Explore the universe of human proteins at neXtProt for KCTD11: NX_Q693B1

Explore proteomics data for KCTD11 at MOPED


See KCTD11 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001002914.1  
ENSEMBL proteins: 
 ENSP00000328352  

KCTD11 Human Recombinant Protein Products:

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OriGene Purified Protein for KCTD11
OriGene Protein Over-expression Lysate for KCTD11
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Novus Biologicals KCTD11 Protein
Novus Biologicals KCTD11 Lysate
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Browse Sino Biological Cell Lysates
ProSpec Recombinant Protein for KCTD11
Cloud-Clone Corp. Proteins for KCTD11

KCTD11 Antibody Products:

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OriGene Antibodies for KCTD11
OriGene Custom Antibody Services for KCTD11
Novus Biologicals KCTD11 Antibodies
Abcam antibodies for KCTD11
Cloud-Clone Corp. Antibodies for KCTD11
Search ThermoFisher Antibodies for KCTD11
LSBio Antibodies in human, mouse, rat for KCTD11

KCTD11 Assay Products:

Browse Kits and Assays available from EMD Millipore
OriGene Custom Assay Services for KCTD11
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for KCTD11
Browse Enzo Life Sciences for kits & assays
Cloud-Clone Corp. ELISAs for KCTD11
Cloud-Clone Corp. CLIAs for KCTD11


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro protein domains:
 IPR011333 BTB/POZ_fold
 IPR003131 T1-type_BTB

Graphical View of Domain Structure for InterPro Entry Q693B1

ProtoNet protein and cluster: Q693B1

UniProtKB/Swiss-Prot: KCD11_HUMAN, Q693B1
Domain: The BTB domain is required for growth-suppressing properties
Similarity: Contains 1 BTB (POZ) domain


KCTD11 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: KCD11_HUMAN, Q693B1
Function: Plays a role as a marker and a regulator of neuronal differentiation; Up-regulated by a variety of
neurogenic signals, such as retinoic acid, epidermal growth factor/EGF and NGFB/nerve growth factor. Induces
apoptosis, growth arrest and the expression of cyclin-dependent kinase inhibitor CDKN1B. Plays a role as a tumor
repressor and inhibits cell growth and tumorigenicity of medulloblastoma (MDB). Acts as an E3 ubiquitin-protein
ligase towards HDAC1, leading to its proteasomal degradation. Functions as antagonist of the Hedgehog pathway on
cell proliferation and differentiation by affecting the nuclear transfer of transcrition factor GLI1, thus
maintaining cerebellar granule cells in undifferentiated state, this effect probably occurs via HDAC1
down-regulation, keeping GLI1 acetylated and inactive. When knock-down, Hedgehog antagonism is impaired and
proliferation of granule cells is sustained. Activates the caspase cascade

Animal Models:

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KCTD11
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KCTD11

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KCTD11
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KCTD11

miRNA
Products:
    
miRTarBase miRNAs that target KCTD11:
hsa-mir-744-5p (MIRT037456), hsa-mir-10a-5p (MIRT047562)

Block miRNA regulation of human, mouse, rat KCTD11 using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate KCTD11 (see all 19):
hsa-miR-3934 hsa-miR-4286 hsa-miR-362-3p hsa-miR-125a-3p hsa-miR-520a-5p hsa-miR-764 hsa-miR-3116 hsa-miR-1914
SwitchGear 3'UTR luciferase reporter plasmidKCTD11 3' UTR sequence
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for KCTD11
Predesigned siRNA for gene silencing in human, mouse, rat KCTD11

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for KCTD11

Clone
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OriGene clones in human, mouse for KCTD11 (see all 6)
OriGene ORF clones in mouse, rat for KCTD11
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: KCTD11 (NM_001002914)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for KCTD11
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KCTD11

Cell Line
Products:
     
GenScript Custom overexpressing Cell Line Services for KCTD11
Browse ESI BIO Cell Lines and PureStem Progenitors for KCTD11 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCTD11


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
mitochondrion2
cytosol1
extracellular1
nucleus1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005737cytoplasm IEA--

KCTD11 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for KCTD11 About                                                                                                See pathways by source

SuperPathContained pathways About
1Sweet Taste Signaling
Sweet Taste Signaling0.72
Bitter Taste Signaling0.44
Melatonin Signaling0.72
Sperm Motility0.37
Cellular Effects of Sildenafil0.46
2Activation of cAMP-Dependent PKA
Activation of cAMP-Dependent PKA0.77
PKA Signaling0.56
cAMP Pathway0.77
3Neuropathic Pain-Signaling in Dorsal Horn Neurons
Neuropathic Pain-Signaling in Dorsal Horn Neurons0.47
Cholera Infection0.40
Aldosterone Signaling in Epithelial Cells0.47
4Hepatic ABC Transporters
Hepatic ABC Transporters0.41
MODY (Maturity-Onset Diabetes of Young)0.41

Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for KCTD11 (see all 13)
    Cholera Infection
Neuropathic Pain-Signaling in Dorsal Horn Neurons
Hepatic ABC Transporters
PKA Signaling
Sweet Taste Signaling


UniProtKB/Swiss-Prot: KCD11_HUMAN, Q693B1
Pathway: Protein modification; protein ubiquitination

    Pathway & Disease-focused RT2 Profiler PCR Array including KCTD11: 

          Hedgehog Signaling Pathway in human mouse rat

Interactions:

    Search GeneGlobe Interaction Network for KCTD11

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

3 Interacting proteins for KCTD11 (Q693B13 ENSP000003283524) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
CUL3Q136183, ENSP000002644144I2D: score=1 STRING: ENSP00000264414
HDAC1Q135473, ENSP000003626494I2D: score=1 STRING: ENSP00000362649
RENENSP000002721904STRING: ENSP00000272190
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Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0007049cell cycle IEA--
GO:0007399nervous system development ----
GO:0007406negative regulation of neuroblast proliferation IEA--
GO:0016567protein ubiquitination IEA--
GO:0030154cell differentiation ----

KCTD11 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for KCTD11 (KCD11)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for KCTD11 gene: 
NM_001002914.2  

Unigene Cluster for KCTD11:

Potassium channel tetramerisation domain containing 11
Hs.592112  [show with all ESTs]
Unigene Representative Sequence: NM_001002914
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000576980 ENST00000333751(uc002gge.4)
miRNA
Products:
     
Block miRNA regulation of human, mouse, rat KCTD11 using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate KCTD11 (see all 19):
hsa-miR-3934 hsa-miR-4286 hsa-miR-362-3p hsa-miR-125a-3p hsa-miR-520a-5p hsa-miR-764 hsa-miR-3116 hsa-miR-1914
SwitchGear 3'UTR luciferase reporter plasmidKCTD11 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for KCTD11
Predesigned siRNA for gene silencing in human, mouse, rat KCTD11
Clone
Products:
     
OriGene clones in human, mouse for KCTD11 (see all 6)
OriGene ORF clones in mouse, rat for KCTD11
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: KCTD11 (NM_001002914)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for KCTD11
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KCTD11
Primer
Products:
    
OriGene qPCR primer pairs and template standards for KCTD11
OriGene qSTAR qPCR primer pairs in human, mouse for KCTD11
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KCTD11
  QuantiTect SYBR Green Assays in human, mouse, rat KCTD11
  QuantiFast Probe-based Assays in human, mouse, rat KCTD11

Additional mRNA sequence: 

AK056227.1 AY646650.1 BC019929.1 BC063604.1 BC103744.1 BC110598.2 

2 DOTS entries:

DT.435526  DT.95360331 

Selected AceView cDNA sequences (see all 190):

BM783122 AI625175 BQ955458 BM783795 BI966752 BT009788 AI962752 CK903560 
BM773027 BI966732 BI029099 NM_001002914 AK056227 AY646650 AA832252 BI962890 
BQ055584 CF995075 BG490596 CR599042 AL047399 BC063604 CD558797 BM469684 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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KCTD11 expression in normal human tissues (normalized intensities)      KCTD11 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ATTTACAAGA
KCTD11 Expression
About this image


KCTD11 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 
 Liver (Hepatobiliary System)
         Liver Lobule
KCTD11 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

KCTD11 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.592112

UniProtKB/Swiss-Prot: KCD11_HUMAN, Q693B1
Tissue specificity: Higher expression in cerebellum than in whole brain and lower expression in medulloblastoma

    Pathway & Disease-focused RT2 Profiler PCR Array including KCTD11: 
          Hedgehog Signaling Pathway in human mouse rat

Primer
Products:
OriGene qPCR primer pairs and template standards for KCTD11
OriGene qSTAR qPCR primer pairs in human, mouse for KCTD11
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KCTD11
QuantiTect SYBR Green Assays in human, mouse, rat KCTD11
QuantiFast Probe-based Assays in human, mouse, rat KCTD11
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCTD11

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for KCTD11 gene from Selected species (see all 8)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Kctd111 , 5 potassium channel tetramerisation domain containing more1, 5 85.49(n)1
89.66(a)1
  11 (42.91 cM)5
2168581  NM_153143.41  NP_694783.11 
 698782615 
chicken
(Gallus gallus)
Aves KCTD76
Gallus gallus potassium channel tetramerisation do...
16(a)
many ↔ many
19(5021626-5028387)


ENSEMBL Gene Tree for KCTD11 (if available)
TreeFam Gene Tree for KCTD11 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for KCTD11 gene
KCTD12  KCTD82  KCTD152  KCTD162  KCTD42  KCNRG2  KCTD122  KCTD212  
KCTD62  KCTD142  
1 SIMAP similar gene for KCTD11 using alignment to 1 protein entry:     KCD11_HUMAN:
KCTD21

KCTD11 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for KCTD11 (see all 14)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs756879311,2
C,F--7255881(+) AAATCG/AGATAC 1 -- ut511Minor allele frequency- A:0.03NA 120
rs1393445911,2
C--7255911(+) TTCCCC/TTCTCT 1 -- ut510--------
rs1897177091,2
--7256072(+) ACAGCG/TTCGAC 1 -- ut510--------
rs80801821,2,,4
C,F,A,H--7256325(+) GAGGCG/AGCCAC 2 /S /G mis115Minor allele frequency- A:0.02NS EA NA WA EU 7009
rs1402772481,2
F--7256372(+) ATCCTC/AAATTT 2 /L syn11Minor allele frequency- A:0.00NA 4424
rs617376581,2
C,F--7256477(+) GACGCG/CCTGCG 2 /A syn12Minor allele frequency- C:0.00NS NA 4456
rs3766840871,2
----7255924(+) CTGCCC/GTCTGC 1 -- ut510--------
rs3738430071,2
----7256248(+) GACCCA/GCTTCC 1 -- ut510--------
rs3691165961,2
----7256305(+) CCCCAA/GCTCAA 2 N S mis10--------
rs3696849101,2
----7256411(+) CGTGGG/TTACGG 2 G syn10--------

HapMap Linkage Disequilibrium report for KCTD11 (7255208 - 7258263 bp)

Structural Variations
     Database of Genomic Variants (DGV) 5 variations for KCTD11:    About this table    
Variant IDTypeSubtypePubMed ID
esv2422288CNV Deletion17116639
dgv3053n71CNV Loss21882294
nsv907642CNV Loss21882294
nsv457659CNV Loss19166990
nsv907643CNV Loss21882294

Human Gene Mutation Database (HGMD): KCTD11
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing KCTD11
DNA2.0 Custom Variant and Variant Library Synthesis for KCTD11

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 609848    OMIM disorders: --

7 diseases for KCTD11:    About MalaCards
maturity-onset diabetes of the young    cholera    medulloblastoma    gingivitis
mental retardation    neuronitis    hepatitis

1 disease from the University of Copenhagen DISEASES database for KCTD11:
Medulloblastoma

KCTD11 for disorders           About GeneDecksing

Human Genome Epidemiology (HuGE) Navigator: KCTD11 (1 document)

Export disorders for KCTD11 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for KCTD11 gene, integrated from 10 sources (see all 11):
(articles sorted by number of sources associating them with KCTD11)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Identification and characterization of KCASH2 and KCASH3, 2 novel Cullin3 adaptors suppressing histone deacetylase and Hedgehog activity in medulloblastoma. (PubMed id 21472142)1, 3 De Smaele E....Gulino A. (Neoplasia 2011)
  2. Molecular organization of the cullin E3 ligase adaptor KCTD11. (PubMed id 21237243)1, 2 Correale S.... Pedone E.M. (Biochimie 2011)
  3. Histone deacetylase and Cullin3-REN(KCTD11) ubiquitin ligase interplay regulates Hedgehog signalling through Gli acetylation. (PubMed id 20081843)1, 2 Canettieri G....Gulino A. (Nat. Cell Biol. 2010)
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  6. REN(KCTD11) is a suppressor of Hedgehog signaling and is deleted in human medulloblastoma. (PubMed id 15249678)1, 2 Di Marcotullio L.... Gulino A. (Proc. Natl. Acad. Sci. U.S.A. 2004)
  7. REN: a novel, developmentally regulated gene that promotes neural cell differentiation. (PubMed id 12186855)1, 3 Gallo R....Gulino A. (J. Cell Biol. 2002)
  8. The tumor suppressor gene KCTD11REN is regulated by Sp1 and methylation and its expression is reduced in tumors. (PubMed id 20591193)1 Mancarelli M.M....Alesse E. (Mol. Cancer 2010)
  9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  10. KCTD11 expression in medulloblastoma is lower than in adult cerebellum and higher than in neural stem cells. (PubMed id 16965951)9 Zawlik I....Rieske P. (Cancer Genet. Cytogenet. 2006)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 147040 HGNC: 21302 AceView: CENTB1andKCTD11 Ensembl:ENSG00000213859 euGenes: HUgn147040
ECgene: KCTD11 H-InvDB: KCTD11

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for KCTD11 Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for KCTD11 Genetics and Cytogenetics in Oncology and Haematology

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