Aliases for KCTD21 Gene

Aliases for KCTD21 Gene

  • Potassium Channel Tetramerization Domain Containing 21 2 3 5
  • Potassium Channel Tetramerization Domain-Containing Protein 21 3 4
  • Potassium Channel Tetramerisation Domain Containing 21 2 3
  • BTB/POZ Domain-Containing Protein KCTD21 3 4
  • KCASH2 Protein 4
  • KCASH2 3

External Ids for KCTD21 Gene

Previous GeneCards Identifiers for KCTD21 Gene

  • GC11M077560
  • GC11M077882
  • GC11M074180

Summaries for KCTD21 Gene

GeneCards Summary for KCTD21 Gene

KCTD21 (Potassium Channel Tetramerization Domain Containing 21) is a Protein Coding gene. Diseases associated with KCTD21 include Medulloblastoma. An important paralog of this gene is KCTD11.

UniProtKB/Swiss-Prot Summary for KCTD21 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. 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).

Additional gene information for KCTD21 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCTD21 Gene

Genomics for KCTD21 Gene

GeneHancer (GH) Regulatory Elements for KCTD21 Gene

Promoters and enhancers for KCTD21 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCTD21 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCTD21

Top Transcription factor binding sites by QIAGEN in the KCTD21 gene promoter:
  • C/EBPalpha
  • Egr-4
  • LCR-F1
  • NF-1
  • NF-1/L
  • p53
  • Pax-4a
  • POU6F1 (c2)
  • SEF-1 (1)

Genomic Locations for KCTD21 Gene

Genomic Locations for KCTD21 Gene
chr11:78,171,243-78,188,817
(GRCh38/hg38)
Size:
17,575 bases
Orientation:
Minus strand
chr11:77,882,295-77,899,868
(GRCh37/hg19)
Size:
17,574 bases
Orientation:
Minus strand

Genomic View for KCTD21 Gene

Genes around KCTD21 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCTD21 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCTD21 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCTD21 Gene

Proteins for KCTD21 Gene

  • Protein details for KCTD21 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q4G0X4-KCD21_HUMAN
    Recommended name:
    BTB/POZ domain-containing protein KCTD21
    Protein Accession:
    Q4G0X4
    Secondary Accessions:
    • B4DTR0

    Protein attributes for KCTD21 Gene

    Size:
    260 amino acids
    Molecular mass:
    29643 Da
    Quaternary structure:
    • Homopentamer (By similarity). Interacts with KCTD11; KCTD21 and KCTD11 may associate in pentameric assemblies. Interacts (via BTB domain) with CUL3; indicative for a participation in a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex (PubMed:21472142).

neXtProt entry for KCTD21 Gene

Post-translational modifications for KCTD21 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KCTD21 Gene

Domains & Families for KCTD21 Gene

Gene Families for KCTD21 Gene

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

Protein Domains for KCTD21 Gene

Suggested Antigen Peptide Sequences for KCTD21 Gene

GenScript: Design optimal peptide antigens:
  • BTB/POZ domain-containing protein KCTD21 (KCD21_HUMAN)
genes like me logo Genes that share domains with KCTD21: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KCTD21 Gene

Function for KCTD21 Gene

Molecular function for KCTD21 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. 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).

Phenotypes From GWAS Catalog for KCTD21 Gene

Gene Ontology (GO) - Molecular Function for KCTD21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042802 identical protein binding IPI 21472142
GO:0042826 histone deacetylase binding IDA 21472142
GO:0097602 cullin family protein binding IDA 21472142
genes like me logo Genes that share ontologies with KCTD21: view
genes like me logo Genes that share phenotypes with KCTD21: view

Animal Model Products

CRISPR Products

miRNA for KCTD21 Gene

miRTarBase miRNAs that target KCTD21

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KCTD21 Gene

Localization for KCTD21 Gene

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 KCTD21 gene
Compartment Confidence
cytosol 3
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for KCTD21 Gene

Pathways & Interactions for KCTD21 Gene

PathCards logo

SuperPathways for KCTD21 Gene

No Data Available

UniProtKB/Swiss-Prot Q4G0X4-KCD21_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for KCTD21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006511 ubiquitin-dependent protein catabolic process IDA 21472142
GO:0016567 protein ubiquitination IEA --
GO:0040008 regulation of growth IEA --
GO:0045879 negative regulation of smoothened signaling pathway IDA 21472142
GO:0051260 protein homooligomerization IEA --
genes like me logo Genes that share ontologies with KCTD21: view

No data available for Pathways by source and SIGNOR curated interactions for KCTD21 Gene

Drugs & Compounds for KCTD21 Gene

No Compound Related Data Available

Transcripts for KCTD21 Gene

mRNA/cDNA for KCTD21 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCTD21 Gene

No ASD Table

Relevant External Links for KCTD21 Gene

GeneLoc Exon Structure for
KCTD21

Expression for KCTD21 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KCTD21 Gene

Protein differential expression in normal tissues from HIPED for KCTD21 Gene

This gene is overexpressed in Liver (12.3), Testis (7.3), and Frontal cortex (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KCTD21 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KCTD21

SOURCE GeneReport for Unigene cluster for KCTD21 Gene:

Hs.528439

mRNA Expression by UniProt/SwissProt for KCTD21 Gene:

Q4G0X4-KCD21_HUMAN
Tissue specificity: Highly expressed in cerebellum and brain. Expression is down-regulated in medulloblastoma.

Evidence on tissue expression from TISSUES for KCTD21 Gene

  • Nervous system(4.7)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with KCTD21: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KCTD21 Gene

Orthologs for KCTD21 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KCTD21 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCTD21 31 30
  • 99.62 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KCTD21 31 30
  • 94.62 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KCTD21 31 30
  • 94.62 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCTD21 31
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kctd21 17 31 30
  • 91.41 (n)
rat
(Rattus norvegicus)
Mammalia Kctd21 30
  • 91.03 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KCTD21 31
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCTD21 31 30
  • 79.36 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCTD21 31
  • 89 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii kctd7 31
  • 17 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 23 (a)
OneToMany
Species where no ortholog for KCTD21 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for KCTD21 Gene

ENSEMBL:
Gene Tree for KCTD21 (if available)
TreeFam:
Gene Tree for KCTD21 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KCTD21: view image

Paralogs for KCTD21 Gene

(10) SIMAP similar genes for KCTD21 Gene using alignment to 6 proteins:

  • KCD21_HUMAN
  • E9PJJ5_HUMAN
  • E9PK99_HUMAN
  • E9PM10_HUMAN
  • E9PMS5_HUMAN
  • E9PRT1_HUMAN
genes like me logo Genes that share paralogs with KCTD21: view

Variants for KCTD21 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCTD21 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
778440 Benign: not provided 78,173,865(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for KCTD21 Gene

Structural Variations from Database of Genomic Variants (DGV) for KCTD21 Gene

Variant ID Type Subtype PubMed ID
esv33345 CNV gain 17666407
nsv1122647 CNV deletion 24896259
nsv516503 CNV loss 19592680
nsv520740 CNV gain 19592680
nsv527066 CNV gain 19592680

Variation tolerance for KCTD21 Gene

Residual Variation Intolerance Score: 42.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.00; 20.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCTD21 Gene

Human Gene Mutation Database (HGMD)
KCTD21
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCTD21

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCTD21 Gene

Disorders for KCTD21 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KCTD21 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
medulloblastoma
  • mdb
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KCTD21

genes like me logo Genes that share disorders with KCTD21: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCTD21 Gene

Publications for KCTD21 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 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. Cullin-3-KCTD10-mediated CEP97 degradation promotes primary cilium formation. (PMID: 30404837) Nagai T … Mizuno K (Journal of cell science 2018) 3 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for KCTD21 Gene

Sources for KCTD21 Gene