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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
    mouse all
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    Genomic context

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    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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