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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
  • KCASH3 Protein 4
  • KCASH3 3

External Ids for KCTD6 Gene

Previous GeneCards Identifiers for KCTD6 Gene

  • GC03P058435
  • GC03P058440

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 Innate Immune System and Neuropathic Pain-Signaling in Dorsal Horn Neurons. Gene Ontology (GO) annotations related to this gene include ankyrin binding. An important paralog of this gene is KCTD21.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for KCTD6 Gene

Genomics for KCTD6 Gene

GeneHancer (GH) Regulatory Elements for KCTD6 Gene

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
GH03I058490 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.8 +0.0 38 2.4 PKNOX1 ARNT ZFP64 SIN3A DMAP1 ZNF48 GLIS2 ZNF143 RUNX3 DEK ENSG00000272360 KCTD6 PXK ACOX2 RPL27P9
GH03I058332 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 33.9 -157.6 -157637 4.6 FOXA2 ARNT ARID4B SIN3A FEZF1 ZNF2 ZNF766 CBX5 ZNF416 ZNF207 PXK DENND6A FLNB-AS1 FLNB KCTD6 RPP14 PDE12 HTD2 FAM107A ABHD6
GH03I058462 Enhancer 1.1 Ensembl ENCODE 24.3 -28.5 -28457 1.6 PKNOX1 FOXA2 SMAD1 ARID4B ZNF207 ZNF143 ATF7 RUNX3 DEK RXRA KCTD6 PDHB RPP14 PXK DENND6A ACOX2 HTD2 ENSG00000243384 FAM107A FLNB-AS1
GH03I058469 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 14.3 -20.5 -20471 3.4 PKNOX1 CLOCK FOXA2 ARID4B NEUROD1 SIN3A FEZF1 ZNF2 YY1 SLC30A9 RPP14 PXK PDHB KCTD6 ACOX2 HTD2 FAM107A ENSG00000243384 ENSG00000272182 ENSG00000272360
GH03I058064 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.4 -425.5 -425488 5 FOXA2 ARID4B FEZF1 RAD21 ZNF48 RARA YY1 ZNF335 ZNF23 GATA2 KCTD6 FLNB RPP14 FLNB-AS1 ARF4 GC03P058010
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KCTD6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KCTD6 gene promoter:

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)

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

No Post-translational modifications

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

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KCTD6 Gene

Suggested Antigen Peptide Sequences for KCTD6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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 25416956
GO:0030506 ankyrin binding IDA 22573887
GO:0042802 identical protein binding IPI 25416956
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

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 5
nucleus 3
mitochondrion 2
extracellular 1

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

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

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

Unigene Clusters for KCTD6 Gene

Potassium channel tetramerisation domain containing 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for KCTD6 Gene

GeneLoc Exon Structure for
KCTD6
ECgene alternative splicing isoforms for
KCTD6

Expression for KCTD6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for KCTD6 Gene



Protein tissue co-expression partners for KCTD6 Gene

NURSA nuclear receptor signaling pathways regulating expression of KCTD6 Gene:

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

Primer Products

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 33 34
  • 100 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KCTD6 34
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCTD6 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCTD6 33 34
  • 95.22 (n)
cow
(Bos Taurus)
Mammalia KCTD6 33 34
  • 92.97 (n)
rat
(Rattus norvegicus)
Mammalia Kctd6 33
  • 89.03 (n)
mouse
(Mus musculus)
Mammalia Kctd6 33 16 34
  • 88.75 (n)
chicken
(Gallus gallus)
Aves KCTD6 33 34
  • 82.98 (n)
lizard
(Anolis carolinensis)
Reptilia KCTD6 34
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kctd6 33
  • 80.31 (n)
zebrafish
(Danio rerio)
Actinopterygii kctd6b 34
  • 90 (a)
OneToMany
kctd6a 33 34
  • 75.39 (n)
Dr.19982 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12176 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 26 (a)
OneToMany
Species where no ortholog for KCTD6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for KCTD6 Gene

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

Pseudogenes.org Pseudogenes for KCTD6 Gene

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

Variants for KCTD6 Gene

Sequence variations from dbSNP and Humsavar for KCTD6 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000175041 -- 58,492,811(+) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000204706 -- 58,492,591(+) G/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000331495 -- 58,500,818(+) A/T intron_variant
rs1000333753 -- 58,501,545(+) G/C coding_sequence_variant, synonymous_variant
rs1000540148 -- 58,493,926(+) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant

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

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCTD6 Gene

Disorders for KCTD6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KCTD6 Gene - From: HGMD, 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

Additional Disease Information for KCTD6

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 58
  2. Structural Insights into KCTD Protein Assembly and Cullin3 Recognition. (PMID: 26334369) Ji AX … Privé GG (Journal of molecular biology 2016) 3 4 58
  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 58
  4. The centrosomal deubiquitylase USP21 regulates Gli1 transcriptional activity and stability. (PMID: 27621083) Heride C … Urbé S (Journal of cell science 2016) 3 4 58
  5. Cullin 3 Recognition Is Not a Universal Property among KCTD Proteins. (PMID: 25974686) Smaldone G … Vitagliano L (PloS one 2015) 3 4 58

Products for KCTD6 Gene

Sources for KCTD6 Gene

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