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Aliases for KCTD20 Gene

Aliases for KCTD20 Gene

  • Potassium Channel Tetramerization Domain Containing 20 2 3 4 5
  • Potassium Channel Tetramerisation Domain Containing 20 2 3
  • C6orf69 3 4
  • BTB/POZ Domain-Containing Protein KCTD20 3
  • Chromosome 6 Open Reading Frame 69 2
  • DJ108K11.3 3

External Ids for KCTD20 Gene

Previous HGNC Symbols for KCTD20 Gene

  • C6orf69

Previous GeneCards Identifiers for KCTD20 Gene

  • GC06P036519
  • GC06P036410
  • GC06P036130
  • GC06P036921
  • GC06P036959
  • GC06P037785
  • GC06P038410
  • GC06P038999

Summaries for KCTD20 Gene

GeneCards Summary for KCTD20 Gene

KCTD20 (Potassium Channel Tetramerization Domain Containing 20) is a Protein Coding gene. Diseases associated with KCTD20 include Retinitis Pigmentosa 4, Autosomal Dominant Or Recessive. An important paralog of this gene is BTBD10.

UniProtKB/Swiss-Prot for KCTD20 Gene

  • Promotes the phosphorylation of AKT family members.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCTD20 Gene

Genomics for KCTD20 Gene

Regulatory Elements for KCTD20 Gene

Enhancers for KCTD20 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G036592 3 FANTOM5 Ensembl ENCODE dbSUPER 30.5 +154.7 154652 10.7 MLX CREB3L1 ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 SP3 KCTD20 CDKN1A RAB44 STK38 TBC1D22B ETV7 ENSG00000251864 LAP3P2 ENSG00000237719 CMTR1
GH06G036439 1.8 FANTOM5 ENCODE dbSUPER 30.7 +0.1 81 6.9 MLX CREB3L1 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC MEF2D ETV7 KCTD20 PXT1 LOC105375037 CDKN1A RPL10A PI16 MAPK14 SRSF3 BRPF3
GH06G036477 1.4 Ensembl ENCODE dbSUPER 27.7 +35.5 35493 0.6 ATF1 ARNT TCF12 ZNF766 GATA2 JUNB NCOA1 REST SMARCA4 NBN KCTD20 PXT1 STK38 PI16 LOC105375037 ETV7 RAB44 PIR61796 RN7SL502P
GH06G036422 1.9 FANTOM5 Ensembl ENCODE dbSUPER 15.6 -19.2 -19238 2.0 MLX CREB3L1 ARID4B SIN3A ZNF2 YY1 ZNF766 ZNF143 ZNF207 FOS ETV7 KCTD20 LOC105375037 C6orf222 STK38 PI16 MAPK13 PXT1 SRSF3 CDKN1A
GH06G036431 1.6 FANTOM5 Ensembl ENCODE dbSUPER 15 -10.5 -10471 1.4 PKNOX1 TBL1XR1 BACH1 BMI1 ARID3A EED SCRT2 RELB IKZF2 CREM KCTD20 PI16 ETV7
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KCTD20 on UCSC Golden Path with GeneCards custom track

Promoters for KCTD20 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000196208 533 1801 MLX CREB3L1 DMAP1 YY1 ZNF143 ZNF263 MEF2D SSRP1 ZNF610 NBN

Genomic Location for KCTD20 Gene

Chromosome:
6
Start:
36,442,767 bp from pter
End:
36,491,143 bp from pter
Size:
48,377 bases
Orientation:
Plus strand

Genomic View for KCTD20 Gene

Genes around KCTD20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCTD20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCTD20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCTD20 Gene

Proteins for KCTD20 Gene

  • Protein details for KCTD20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z5Y7-KCD20_HUMAN
    Recommended name:
    BTB/POZ domain-containing protein KCTD20
    Protein Accession:
    Q7Z5Y7
    Secondary Accessions:
    • B4DZD3
    • B4E2Q3
    • F5H3T3
    • Q5W105
    • Q69YQ7
    • Q8IZ55

    Protein attributes for KCTD20 Gene

    Size:
    419 amino acids
    Molecular mass:
    47480 Da
    Quaternary structure:
    • Interacts with AKT1; AKT2 and AKT3 (By similarity). Associates with PP2CA (By similarity). Part of a complex containing MARK4 (PubMed:14676191).
    SequenceCaution:
    • Sequence=CAH72192.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI19118.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for KCTD20 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCTD20 Gene

Post-translational modifications for KCTD20 Gene

  • Ubiquitination at isoforms=118
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KCTD20 Gene

Domains & Families for KCTD20 Gene

Protein Domains for KCTD20 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KCTD20: view

No data available for Gene Families and UniProtKB/Swiss-Prot for KCTD20 Gene

Function for KCTD20 Gene

Molecular function for KCTD20 Gene

UniProtKB/Swiss-Prot Function:
Promotes the phosphorylation of AKT family members.
genes like me logo Genes that share phenotypes with KCTD20: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KCTD20 Gene

Localization for KCTD20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCTD20 Gene

Cytoplasm. Note=Colocalizes with BTBD10 in filamentous structures. {ECO:0000250 UniProtKB:Q8CDD8}.

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 KCTD20 gene
Compartment Confidence
nucleus 3
endoplasmic reticulum 3
cytosol 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for KCTD20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KCTD20: view

Pathways & Interactions for KCTD20 Gene

SuperPathways for KCTD20 Gene

No Data Available

Interacting Proteins for KCTD20 Gene

Gene Ontology (GO) - Biological Process for KCTD20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042327 positive regulation of phosphorylation ISS --
genes like me logo Genes that share ontologies with KCTD20: view

No data available for Pathways by source and SIGNOR curated interactions for KCTD20 Gene

Drugs & Compounds for KCTD20 Gene

No Compound Related Data Available

Transcripts for KCTD20 Gene

Unigene Clusters for KCTD20 Gene

Potassium channel tetramerisation domain containing 20:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCTD20 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b · 11c · 11d · 11e ^ 12 ^ 13a · 13b
SP1: - - - - -
SP2: -
SP3: - -
SP4: - - - - - - -
SP5: -
SP6: -
SP7: - - - - - - - - - - -
SP8: - - - - - - - -
SP9:
SP10:

Relevant External Links for KCTD20 Gene

GeneLoc Exon Structure for
KCTD20
ECgene alternative splicing isoforms for
KCTD20

Expression for KCTD20 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCTD20 Gene

Protein differential expression in normal tissues from HIPED for KCTD20 Gene

This gene is overexpressed in Fetal gut (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KCTD20 Gene



Protein tissue co-expression partners for KCTD20 Gene

NURSA nuclear receptor signaling pathways regulating expression of KCTD20 Gene:

KCTD20

SOURCE GeneReport for Unigene cluster for KCTD20 Gene:

Hs.188757

Evidence on tissue expression from TISSUES for KCTD20 Gene

  • Nervous system(4.6)
  • Liver(4.2)
  • Muscle(4.2)
genes like me logo Genes that share expression patterns with KCTD20: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KCTD20 Gene

Orthologs for KCTD20 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCTD20 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCTD20 34 35
  • 99.68 (n)
cow
(Bos Taurus)
Mammalia KCTD20 34 35
  • 90.21 (n)
dog
(Canis familiaris)
Mammalia KCTD20 34 35
  • 90.14 (n)
oppossum
(Monodelphis domestica)
Mammalia KCTD20 35
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kctd20 34 16 35
  • 85.12 (n)
rat
(Rattus norvegicus)
Mammalia Kctd20 34
  • 83.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KCTD20 35
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCTD20 34 35
  • 74.39 (n)
lizard
(Anolis carolinensis)
Reptilia KCTD20 35
  • 82 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii KCTD20 35
  • 64 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta mri 35
  • 42 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea snpc-1.4 35
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5266 35
  • 42 (a)
OneToMany
Species where no ortholog for KCTD20 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for KCTD20 Gene

ENSEMBL:
Gene Tree for KCTD20 (if available)
TreeFam:
Gene Tree for KCTD20 (if available)

Paralogs for KCTD20 Gene

Paralogs for KCTD20 Gene

(1) SIMAP similar genes for KCTD20 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with KCTD20: view

Variants for KCTD20 Gene

Sequence variations from dbSNP and Humsavar for KCTD20 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000003914 -- 36,467,933(+) TGTGT(A/T)TTTTA intron-variant
rs1000063300 -- 36,447,099(+) ATTTC(A/G)TTGGG intron-variant
rs1000094038 -- 36,453,410(+) GCCCT(G/T)ATTTC intron-variant
rs1000257306 -- 36,459,081(+) TGGGT(A/G)GATCA intron-variant
rs1000393935 -- 36,460,455(+) CCCAC(A/C)ATCAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCTD20 Gene

Variant ID Type Subtype PubMed ID
dgv1761e212 CNV loss 25503493
esv2665343 CNV deletion 23128226
esv3608704 CNV loss 21293372
nsv1131954 CNV deletion 24896259
nsv350047 CNV deletion 16902084

Variation tolerance for KCTD20 Gene

Residual Variation Intolerance Score: 35.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.26; 94.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCTD20 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCTD20

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCTD20 Gene

Disorders for KCTD20 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KCTD20 Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 4, autosomal dominant or recessive
  • retinitis pigmentosa 4
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for KCTD20

Genetic Association Database (GAD)
KCTD20
Human Genome Epidemiology (HuGE) Navigator
KCTD20
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCTD20
genes like me logo Genes that share disorders with KCTD20: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCTD20 Gene

Publications for KCTD20 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  2. Comprehensive proteomic analysis of human Par protein complexes reveals an interconnected protein network. (PMID: 14676191) Brajenovic M. … Drewes G. (J. Biol. Chem. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for KCTD20 Gene

Sources for KCTD20 Gene

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