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KCTD21 potassium channel tetramerization domain containing 21 [ Homo sapiens (human) ]

Gene ID: 283219, updated on 5-Mar-2024

Summary

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Official Symbol
KCTD21provided by HGNC
Official Full Name
potassium channel tetramerization domain containing 21provided by HGNC
Primary source
HGNC:HGNC:27452
See related
Ensembl:ENSG00000188997 MIM:618790; AllianceGenome:HGNC:27452
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KCASH2
Summary
Enables cullin family protein binding activity; histone deacetylase binding activity; and identical protein binding activity. Involved in negative regulation of smoothened signaling pathway and ubiquitin-dependent protein catabolic process. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 3.5), brain (RPKM 3.4) and 25 other tissues See more
Orthologs
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Genomic context

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See KCTD21 in Genome Data Viewer
Location:
11q14.1
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (78171249..78188626, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (78104491..78121889, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (77882295..77899672, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369401 Neighboring gene Sharpr-MPRA regulatory region 11448 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:77840054-77840872 Neighboring gene ALG8 alpha-1,3-glucosyltransferase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5314 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5315 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5316 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:77851405-77852115 Neighboring gene RNA, U6 small nuclear 126, pseudogene Neighboring gene KCTD21 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:77884885-77885386 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:77890493-77890992 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3808 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3809 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:77921405-77922031 Neighboring gene ubiquitin specific peptidase 35 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5317 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5318 Neighboring gene GRB2 associated binding protein 2 Neighboring gene Sharpr-MPRA regulatory region 2371 Neighboring gene uncharacterized LOC105369402

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Identification and characterization of KCASH2 and KCASH3, 2 novel Cullin3 adaptors suppressing histone deacetylase and Hedgehog activity in medulloblastoma. De Smaele E, et al. Neoplasia, 2011 Apr. PMID 21472142, Free PMC Article
  2. KCTD15 inhibits the Hedgehog pathway in Medulloblastoma cells by increasing protein levels of the oncosuppressor KCASH2. Spiombi E, et al. Oncogenesis, 2019 Nov 4. PMID 31685809, Free PMC Article
  3. Cullin-3-KCTD10-mediated CEP97 degradation promotes primary cilium formation. Nagai T, et al. J Cell Sci, 2018 Dec 12. PMID 30404837
  4. Competitive binding of E3 ligases TRIM26 and WWP2 controls SOX2 in glioblastoma. Mahlokozera T, et al. Nat Commun, 2021 Nov 3. PMID 34732716, Free PMC Article
  5. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Rescuing KCASHs expression reduces the Hedgehog-dependent medulloblastoma growth, suggesting that loss of members of this novel family of native HDAC inhibitors is crucial in sustaining Hh pathway-mediated tumorigenesis.
    Title: Identification and characterization of KCASH2 and KCASH3, 2 novel Cullin3 adaptors suppressing histone deacetylase and Hedgehog activity in medulloblastoma.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cullin family protein binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cullin family protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables histone deacetylase binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables histone deacetylase binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of smoothened signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein homooligomerization IEA
Inferred from Electronic Annotation
more info
  
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
involved_in ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
BTB/POZ domain-containing protein KCTD21
Names
potassium channel tetramerisation domain containing 21
potassium channel tetramerization domain-containing protein 21

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001029859.3 → NP_001025030.1  BTB/POZ domain-containing protein KCTD21

    See identical proteins and their annotated locations for NP_001025030.1

    Status: VALIDATED

    Source sequence(s)
    AK095233, DC342183
    Consensus CDS
    CCDS31645.1
    UniProtKB/Swiss-Prot
    B4DTR0, Q4G0X4
    Related
    ENSP00000339340.3, ENST00000340067.4
    Conserved Domains (1) summary
    cd18395
    Location:3 → 100
    BTB_POZ_KCTD21; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 21 (KCTD21)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    78171249..78188626 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718517.3 → XP_006718580.1  BTB/POZ domain-containing protein KCTD21 isoform X1

    See identical proteins and their annotated locations for XP_006718580.1

    UniProtKB/Swiss-Prot
    B4DTR0, Q4G0X4
    Conserved Domains (1) summary
    cd18395
    Location:3 → 100
    BTB_POZ_KCTD21; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 21 (KCTD21)

  2. XM_047426803.1 → XP_047282759.1  BTB/POZ domain-containing protein KCTD21 isoform X2

  3. XM_006718518.4 → XP_006718581.1  BTB/POZ domain-containing protein KCTD21 isoform X1

    See identical proteins and their annotated locations for XP_006718581.1

    UniProtKB/Swiss-Prot
    B4DTR0, Q4G0X4
    Conserved Domains (1) summary
    cd18395
    Location:3 → 100
    BTB_POZ_KCTD21; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 21 (KCTD21)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    78104491..78121889 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368483.1 → XP_054224458.1  BTB/POZ domain-containing protein KCTD21 isoform X1

    UniProtKB/Swiss-Prot
    B4DTR0, Q4G0X4

  2. XM_054368482.1 → XP_054224457.1  BTB/POZ domain-containing protein KCTD21 isoform X2

  3. XM_054368481.1 → XP_054224456.1  BTB/POZ domain-containing protein KCTD21 isoform X1

    UniProtKB/Swiss-Prot
    B4DTR0, Q4G0X4
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q4G0X4.1 GenPept UniProtKB/Swiss-Prot:Q4G0X4

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