Aliases for KCTD6 Gene

Aliases for KCTD6 Gene

  • Potassium Channel Tetramerization Domain Containing 6 2 3 5
  • Potassium Channel Tetramerization Domain-Containing Protein 6 3 4
  • Potassium Channel Tetramerisation Domain Containing 6 2 3
  • BTB/POZ Domain-Containing Protein KCTD6 3 4
  • KCASH3 2 3
  • KCASH3 Protein 4
  • MGC27385 2
  • KCTD6 5

External Ids for KCTD6 Gene

Previous GeneCards Identifiers for KCTD6 Gene

  • GC03P058435
  • GC03P058440
  • GC03P058452

Summaries for KCTD6 Gene

GeneCards Summary for KCTD6 Gene

KCTD6 (Potassium Channel Tetramerization Domain Containing 6) is a Protein Coding gene. Diseases associated with KCTD6 include Medulloblastoma. Among its related pathways are Sweet Taste Signaling and Hepatic ABC Transporters. Gene Ontology (GO) annotations related to this gene include ankyrin binding. An important paralog of this gene is KCTD21.

UniProtKB/Swiss-Prot Summary for KCTD6 Gene

  • Probable substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex mediating the ubiquitination and subsequent proteasomal degradation of target proteins. Promotes the ubiquitination of HDAC1; the function seems to depend on KCTD11:KCTD6 oligomerization. Can function as antagonist of the Hedgehog pathway by affecting the nuclear transfer of transcription factor GLI1; the function probably occurs via HDAC1 down-regulation, keeping GLI1 acetylated and inactive. Inhibits cell growth and tumorigenicity of medulloblastoma (MDB) (PubMed:21472142). Involved in regulating protein levels of ANK1 isoform Mu17 probably implicating CUL3-dependent proteasomal degradation (PubMed:22573887).

Additional gene information for KCTD6 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCTD6 Gene

Genomics for KCTD6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KCTD6 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
GH03J058490 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.1 105 5.6 SP1 CTCF PRDM10 BACH1 LARP7 MTA2 ZNF143 ZIC2 RBFOX2 POLR2A ENSG00000272360 HSALNG0026433 KCTD6 PXK ACOX2 ENSG00000243384 FAM107A HTD2 RPP14 ABHD6
GH03J058478 Promoter/Enhancer 0.6 EPDnew dbSUPER 600.4 -13.2 -13174 0.1 ZNF766 KCTD6 LOC107986092 ENSG00000272360 PDHB lnc-KCTD6-1
GH03J058332 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 33.9 -157.7 -157724 4.7 CEBPG SP1 GATAD2A PRDM10 ZNF629 KDM1A ZNF692 BACH1 JUND FOXA1 PXK DENND6A FLNB-AS1 FLNB KCTD6 RPP14 PDE12 HTD2 FAM107A ABHD6
GH03J058469 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 14.3 -20.5 -20471 3.4 CEBPG GATAD2A ATF7 PRDM10 ZNF629 TFE3 LEF1 SOX13 NFKBIZ ZNF692 LOC107986092 RPP14 PXK PDHB KCTD6 ACOX2 HTD2 FAM107A ENSG00000243384 ENSG00000272182
GH03J057590 Enhancer 0.8 Ensembl 29.2 -901.3 -901295 1.6 ZNF629 RBFOX2 ZNF501 ZNF341 RBAK ZNF140 ZBTB20 ZNF639 KLF7 ZXDB TASOR DENND6A APPL1 FLNB-AS1 FLNB KCTD6 PDE12 HESX1 DENND6A-AS1 DENND6A-DT
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCTD6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCTD6

Top Transcription factor binding sites by QIAGEN in the KCTD6 gene promoter:
  • aMEF-2
  • AREB6
  • HNF-1
  • HNF-1A
  • MyoD
  • STAT5B

Genomic Locations for KCTD6 Gene

Genomic Locations for KCTD6 Gene
chr3:58,492,096-58,502,360
(GRCh38/hg38)
Size:
10,265 bases
Orientation:
Plus strand
chr3:58,477,823-58,488,087
(GRCh37/hg19)
Size:
10,265 bases
Orientation:
Plus strand

Genomic View for KCTD6 Gene

Genes around KCTD6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCTD6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCTD6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCTD6 Gene

Proteins for KCTD6 Gene

  • Protein details for KCTD6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NC69-KCTD6_HUMAN
    Recommended name:
    BTB/POZ domain-containing protein KCTD6
    Protein Accession:
    Q8NC69
    Secondary Accessions:
    • B3KNI5
    • Q8NBS6
    • Q8TCA6

    Protein attributes for KCTD6 Gene

    Size:
    237 amino acids
    Molecular mass:
    27610 Da
    Quaternary structure:
    • Homopentamer. Interacts with KCTD11; KCTD6 and KCTD11 may associate in pentameric assemblies. Interacts (via BTB domain) with CUL3; initially a 4:4 stoichiometry has been reported, however, electron microscopy revealed pentameric states with a five-pointed pinwheel shape. The interaction with CUL3 is indicative for a participation in a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex. Interacts with HDAC1; probably indirect as the interaction is requiring the presence of KCTD11 (PubMed:21472142, PubMed:24307990, PubMed:25974686, PubMed:27152988). Interacts with USP21 (preferentially catalytic inactive form) (PubMed:27621083). Interacts with ANK1 isoform Mu17; detected in striated muscle (PubMed:22573887).

neXtProt entry for KCTD6 Gene

Post-translational modifications for KCTD6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCTD6 Gene

No data available for DME Specific Peptides for KCTD6 Gene

Domains & Families for KCTD6 Gene

Gene Families for KCTD6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KCTD6 Gene

Suggested Antigen Peptide Sequences for KCTD6 Gene

GenScript: Design optimal peptide antigens:
  • BTB/POZ domain-containing protein KCTD6 (KCTD6_HUMAN)
genes like me logo Genes that share domains with KCTD6: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KCTD6 Gene

Function for KCTD6 Gene

Molecular function for KCTD6 Gene

UniProtKB/Swiss-Prot Function:
Probable substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex mediating the ubiquitination and subsequent proteasomal degradation of target proteins. Promotes the ubiquitination of HDAC1; the function seems to depend on KCTD11:KCTD6 oligomerization. Can function as antagonist of the Hedgehog pathway by affecting the nuclear transfer of transcription factor GLI1; the function probably occurs via HDAC1 down-regulation, keeping GLI1 acetylated and inactive. Inhibits cell growth and tumorigenicity of medulloblastoma (MDB) (PubMed:21472142). Involved in regulating protein levels of ANK1 isoform Mu17 probably implicating CUL3-dependent proteasomal degradation (PubMed:22573887).

Phenotypes From GWAS Catalog for KCTD6 Gene

Gene Ontology (GO) - Molecular Function for KCTD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21145461
GO:0030506 ankyrin binding IDA 22573887
GO:0042802 identical protein binding IPI 21472142
GO:0097602 cullin family protein binding IDA 21472142
genes like me logo Genes that share ontologies with KCTD6: view
genes like me logo Genes that share phenotypes with KCTD6: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCTD6

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KCTD6 Gene

Localization for KCTD6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCTD6 Gene

Cytoplasm, myofibril, sarcomere, M line. Note=Colocalizes with ANK1 isoform Mu17 at the M line in differentiated skeletal muscle cells and heart. {ECO:0000269 PubMed:22573887}.

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 KCTD6 gene
Compartment Confidence
cytosol 4
nucleus 3
mitochondrion 2
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1
extracellular 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KCTD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0031430 M band IEA --
genes like me logo Genes that share ontologies with KCTD6: view

Pathways & Interactions for KCTD6 Gene

PathCards logo

SuperPathways for KCTD6 Gene

SuperPathway Contained pathways
1 Sweet Taste Signaling
.72
.72
.46
.44
.37
2 Activation of cAMP-Dependent PKA
.77
.77
.56
3 Neuropathic Pain-Signaling in Dorsal Horn Neurons
.47
.47
.40
4 Class I MHC mediated antigen processing and presentation
5 Hepatic ABC Transporters
.41
.41
genes like me logo Genes that share pathways with KCTD6: view

Pathways by source for KCTD6 Gene

13 Qiagen pathways for KCTD6 Gene
  • Activation of cAMP-Dependent PKA
  • Aldosterone Signaling in Epithelial Cells
  • Bitter Taste Signaling
  • cAMP Pathway
  • Cellular Effects of Sildenafil

UniProtKB/Swiss-Prot Q8NC69-KCTD6_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for KCTD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006511 ubiquitin-dependent protein catabolic process IDA 21472142
GO:0016567 protein ubiquitination IEA --
GO:0033146 regulation of intracellular estrogen receptor signaling pathway TAS --
GO:0040008 regulation of growth IEA --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with KCTD6: view

No data available for SIGNOR curated interactions for KCTD6 Gene

Drugs & Compounds for KCTD6 Gene

No Compound Related Data Available

Transcripts for KCTD6 Gene

mRNA/cDNA for KCTD6 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCTD6

Alternative Splicing Database (ASD) splice patterns (SP) for KCTD6 Gene

No ASD Table

Relevant External Links for KCTD6 Gene

GeneLoc Exon Structure for
KCTD6

Expression for KCTD6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KCTD6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KCTD6 Gene

This gene is overexpressed in Breast (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KCTD6 Gene



Protein tissue co-expression partners for KCTD6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KCTD6

SOURCE GeneReport for Unigene cluster for KCTD6 Gene:

Hs.13982

mRNA Expression by UniProt/SwissProt for KCTD6 Gene:

Q8NC69-KCTD6_HUMAN
Tissue specificity: Highly expressed in cerebellum and brain. Expression is down-regulated in medulloblastoma.

Evidence on tissue expression from TISSUES for KCTD6 Gene

  • Lung(4.1)
genes like me logo Genes that share expression patterns with KCTD6: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for KCTD6 Gene

Orthologs for KCTD6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KCTD6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KCTD6 30 31
  • 100 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KCTD6 31
  • 99 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KCTD6 31
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia KCTD6 30 31
  • 95.22 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KCTD6 30 31
  • 92.97 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Kctd6 30
  • 89.03 (n)
Mouse
(Mus musculus)
Mammalia Kctd6 30 17 31
  • 88.75 (n)
OneToOne
Chicken
(Gallus gallus)
Aves KCTD6 30 31
  • 82.98 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KCTD6 31
  • 97 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kctd6 30
  • 80.31 (n)
Zebrafish
(Danio rerio)
Actinopterygii kctd6b 31
  • 90 (a)
OneToMany
kctd6a 30 31
  • 75.39 (n)
OneToMany
Dr.19982 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12176 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 26 (a)
OneToMany
Species where no ortholog for KCTD6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for KCTD6 Gene

ENSEMBL:
Gene Tree for KCTD6 (if available)
TreeFam:
Gene Tree for KCTD6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KCTD6: view image

Paralogs for KCTD6 Gene

(9) SIMAP similar genes for KCTD6 Gene using alignment to 2 proteins:

  • KCTD6_HUMAN
  • F5H7I0_HUMAN

Pseudogenes.org Pseudogenes for KCTD6 Gene

genes like me logo Genes that share paralogs with KCTD6: view

Variants for KCTD6 Gene

Additional dbSNP identifiers (rs#s) for KCTD6 Gene

Structural Variations from Database of Genomic Variants (DGV) for KCTD6 Gene

Variant ID Type Subtype PubMed ID
dgv8338n54 CNV loss 21841781
dgv8339n54 CNV gain 21841781
esv24287 CNV loss 19812545
nsv1073225 CNV deletion 25765185
nsv1136364 CNV deletion 24896259
nsv590370 CNV loss 21841781
nsv590371 CNV loss 21841781
nsv590376 CNV loss 21841781
nsv590377 CNV gain+loss 21841781

Variation tolerance for KCTD6 Gene

Residual Variation Intolerance Score: 29.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.08; 1.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCTD6 Gene

Human Gene Mutation Database (HGMD)
KCTD6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCTD6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCTD6 Gene

Disorders for KCTD6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KCTD6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
medulloblastoma
  • mdb
- elite association - COSMIC cancer census association via MalaCards
Search KCTD6 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with KCTD6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCTD6 Gene

Publications for KCTD6 Gene

  1. Identification and characterization of KCASH2 and KCASH3, 2 novel Cullin3 adaptors suppressing histone deacetylase and Hedgehog activity in medulloblastoma. (PMID: 21472142) De Smaele E … Gulino A (Neoplasia (New York, N.Y.) 2011) 2 3 4
  2. Structural Insights into KCTD Protein Assembly and Cullin3 Recognition. (PMID: 26334369) Ji AX … Privé GG (Journal of molecular biology 2016) 3 4
  3. The BTB domains of the potassium channel tetramerization domain proteins prevalently assume pentameric states. (PMID: 27152988) Smaldone G … Ciccarelli L (FEBS letters 2016) 3 4
  4. The centrosomal deubiquitylase USP21 regulates Gli1 transcriptional activity and stability. (PMID: 27621083) Heride C … Urbé S (Journal of cell science 2016) 3 4
  5. Cullin 3 Recognition Is Not a Universal Property among KCTD Proteins. (PMID: 25974686) Smaldone G … Vitagliano L (PloS one 2015) 3 4

Products for KCTD6 Gene

Sources for KCTD6 Gene