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    KCTD20 potassium channel tetramerization domain containing 20 [ Homo sapiens (human) ]

    Gene ID: 222658, updated on 5-Mar-2024

    Summary

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    Official Symbol
    KCTD20provided by HGNC
    Official Full Name
    potassium channel tetramerization domain containing 20provided by HGNC
    Primary source
    HGNC:HGNC:21052
    See related
    Ensembl:ENSG00000112078 MIM:615932; AllianceGenome:HGNC:21052
    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
    C6orf69; dJ108K11.3
    Summary
    Predicted to enable identical protein binding activity. Predicted to be involved in positive regulation of phosphorylation. Predicted to be integral component of membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in fat (RPKM 16.9), gall bladder (RPKM 16.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    6p21.31
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (36443000..36491141)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (36263677..36311805)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (36410777..36458918)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24424 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24425 Neighboring gene ETS variant transcription factor 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36343773-36344272 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36354517-36355340 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17113 Neighboring gene ETV7 and PTX1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17114 Neighboring gene peroxisomal testis enriched protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24427 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24426 Neighboring gene PXT1 intron CAGE-defined low expression enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17116 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24428 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24429 Neighboring gene RNA, 7SL, cytoplasmic 502, pseudogene Neighboring gene uncharacterized LOC124901558 Neighboring gene serine/threonine kinase 38 Neighboring gene RNA, 7SL, cytoplasmic 748, pseudogene

    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. Cocaine'omics: Genome-wide and transcriptome-wide analyses provide biological insight into cocaine use and dependence. Huggett SB, et al. Addict Biol, 2020 Mar. PMID 30734435
    2. Long non‑coding RNA NEAT1 regulates glioma cell proliferation and apoptosis by competitively binding to microRNA‑324‑5p and upregulating KCTD20 expression. Zhang J, et al. Oncol Rep, 2021 Jul. PMID 33982764, Free PMC Article
    3. Kctd20 promotes the development of non-small cell lung cancer through activating Fak/AKT pathway and predicts poor overall survival of patients. Zhang X, et al. Mol Carcinog, 2017 Sep. PMID 28398603
    4. KCTD20, a relative of BTBD10, is a positive regulator of Akt. Nawa M, et al. BMC Biochem, 2013 Oct 24. PMID 24156551, Free PMC Article
    5. Novel CUL3 Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity. Chatrathi HE, et al. Hypertension, 2022 Jan. PMID 34878901, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Long noncoding RNA NEAT1 regulates glioma cell proliferation and apoptosis by competitively binding to microRNA3245p and upregulating KCTD20 expression.
      Title: Long non‑coding RNA NEAT1 regulates glioma cell proliferation and apoptosis by competitively binding to microRNA‑324‑5p and upregulating KCTD20 expression.
    2. Cocaine'omics: Genome-wide and transcriptome-wide analyses provide biological insight into cocaine use and dependence.
      Title: Cocaine'omics: Genome-wide and transcriptome-wide analyses provide biological insight into cocaine use and dependence.
    3. results suggest that Kctd20 impacts proliferation and invasion of non-small cell lung cancer through enhancing Fak and Akt phosphorylation
      Title: Kctd20 promotes the development of non-small cell lung cancer through activating Fak/AKT pathway and predicts poor overall survival of patients.
    4. KCTD20 is a positive regulator of Akt and may play an important role in regulating the death and growth of some non-nervous and nervous cells.
      Title: KCTD20, a relative of BTBD10, is a positive regulator of Akt.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    Clone Names

    • MGC14254

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in positive regulation of phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    BTB/POZ domain-containing protein KCTD20
    Names
    potassium channel tetramerisation domain containing 20

    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_001286579.2 → NP_001273508.1  BTB/POZ domain-containing protein KCTD20 isoform b

      See identical proteins and their annotated locations for NP_001273508.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks three alternate exons, resulting in the loss of an in-frame segment in the 5' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AY305862, BC023525, BI493539, CX872315
      Consensus CDS
      CCDS69096.1
      UniProtKB/Swiss-Prot
      Q7Z5Y7
      Related
      ENSP00000412205.2, ENST00000449081.6
      Conserved Domains (1) summary
      pfam16017
      Location:51 → 214
      BTB_3; BTB/POZ domain

    2. NM_001286580.2 → NP_001273509.1  BTB/POZ domain-containing protein KCTD20 isoform c

      See identical proteins and their annotated locations for NP_001273509.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon, resulting in translation initiation at at alternate start codon and a frameshifted 5' coding region, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      AK302861, AY305862, BC023525, BI493539, CX872315
      Consensus CDS
      CCDS69097.1
      UniProtKB/Swiss-Prot
      Q7Z5Y7
      Related
      ENSP00000439118.1, ENST00000536244.5
      Conserved Domains (2) summary
      cl38908
      Location:1 → 73
      BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily
      cl17171
      Location:135 → 174
      PH-like; Pleckstrin homology-like domain

    3. NM_173562.5 → NP_775833.2  BTB/POZ domain-containing protein KCTD20 isoform a

      See identical proteins and their annotated locations for NP_775833.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AY305862, BC023525, BI493539, CX872315
      Consensus CDS
      CCDS4821.1
      UniProtKB/Swiss-Prot
      B4DZD3, B4E2Q3, F5H3T3, Q5W105, Q69YQ7, Q7Z5Y7, Q8IZ55
      Related
      ENSP00000362836.2, ENST00000373731.7
      Conserved Domains (2) summary
      smart00225
      Location:119 → 207
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam16017
      Location:151 → 380
      BTB_3; BTB/POZ domain

    RNA

    1. NR_104480.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks two alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK316456, AY305862, BC023525, BI493539, CX872315

    2. NR_104481.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks four internal exons, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AK295717, AY305862, BC023525, BI493539, CX872315

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      36443000..36491141
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514398.4 → XP_011512700.1  BTB/POZ domain-containing protein KCTD20 isoform X1

      See identical proteins and their annotated locations for XP_011512700.1

      UniProtKB/Swiss-Prot
      B4DZD3, B4E2Q3, F5H3T3, Q5W105, Q69YQ7, Q7Z5Y7, Q8IZ55
      Conserved Domains (2) summary
      smart00225
      Location:119 → 207
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam16017
      Location:151 → 380
      BTB_3; BTB/POZ domain

    2. XM_047418380.1 → XP_047274336.1  BTB/POZ domain-containing protein KCTD20 isoform X3

    3. XM_005248940.6 → XP_005248997.1  BTB/POZ domain-containing protein KCTD20 isoform X1

      See identical proteins and their annotated locations for XP_005248997.1

      UniProtKB/Swiss-Prot
      B4DZD3, B4E2Q3, F5H3T3, Q5W105, Q69YQ7, Q7Z5Y7, Q8IZ55
      Conserved Domains (2) summary
      smart00225
      Location:119 → 207
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam16017
      Location:151 → 380
      BTB_3; BTB/POZ domain

    4. XM_047418381.1 → XP_047274337.1  BTB/POZ domain-containing protein KCTD20 isoform X3

    5. XM_047418379.1 → XP_047274335.1  BTB/POZ domain-containing protein KCTD20 isoform X3

    6. XM_047418378.1 → XP_047274334.1  BTB/POZ domain-containing protein KCTD20 isoform X2

    7. XM_006715023.3 → XP_006715086.1  BTB/POZ domain-containing protein KCTD20 isoform X1

      See identical proteins and their annotated locations for XP_006715086.1

      UniProtKB/Swiss-Prot
      B4DZD3, B4E2Q3, F5H3T3, Q5W105, Q69YQ7, Q7Z5Y7, Q8IZ55
      Conserved Domains (2) summary
      smart00225
      Location:119 → 207
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam16017
      Location:151 → 380
      BTB_3; BTB/POZ domain

    8. XM_047418377.1 → XP_047274333.1  BTB/POZ domain-containing protein KCTD20 isoform X1

      UniProtKB/Swiss-Prot
      B4DZD3, B4E2Q3, F5H3T3, Q5W105, Q69YQ7, Q7Z5Y7, Q8IZ55

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      36263677..36311805
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354655.1 → XP_054210630.1  BTB/POZ domain-containing protein KCTD20 isoform X1

      UniProtKB/Swiss-Prot
      B4DZD3, B4E2Q3, F5H3T3, Q5W105, Q69YQ7, Q7Z5Y7, Q8IZ55

    2. XM_054354660.1 → XP_054210635.1  BTB/POZ domain-containing protein KCTD20 isoform X3

    3. XM_054354654.1 → XP_054210629.1  BTB/POZ domain-containing protein KCTD20 isoform X1

      UniProtKB/Swiss-Prot
      B4DZD3, B4E2Q3, F5H3T3, Q5W105, Q69YQ7, Q7Z5Y7, Q8IZ55

    4. XM_054354661.1 → XP_054210636.1  BTB/POZ domain-containing protein KCTD20 isoform X3

    5. XM_054354659.1 → XP_054210634.1  BTB/POZ domain-containing protein KCTD20 isoform X3

    6. XM_054354658.1 → XP_054210633.1  BTB/POZ domain-containing protein KCTD20 isoform X2

    7. XM_054354656.1 → XP_054210631.1  BTB/POZ domain-containing protein KCTD20 isoform X1

      UniProtKB/Swiss-Prot
      B4DZD3, B4E2Q3, F5H3T3, Q5W105, Q69YQ7, Q7Z5Y7, Q8IZ55

    8. XM_054354657.1 → XP_054210632.1  BTB/POZ domain-containing protein KCTD20 isoform X1

      UniProtKB/Swiss-Prot
      B4DZD3, B4E2Q3, F5H3T3, Q5W105, Q69YQ7, Q7Z5Y7, Q8IZ55
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z5Y7.1 GenPept UniProtKB/Swiss-Prot:Q7Z5Y7

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