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

    Gene ID: 222658, updated on 2-Nov-2024

    Summary

    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 located in membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in fat (RPKM 16.9), gall bladder (RPKM 16.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KCTD20 in Genome Data Viewer
    Location:
    6p21.31
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (36443000..36491141)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (36263677..36311805)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC14254

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in positive regulation of phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001286579.2NP_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:51214
      BTB_3; BTB/POZ domain
    2. NM_001286580.2NP_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:173
      BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily
      cl17171
      Location:135174
      PH-like; Pleckstrin homology-like domain
    3. NM_173562.5NP_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:119207
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam16017
      Location:151380
      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_2024_08

    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_011514398.4XP_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:119207
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam16017
      Location:151380
      BTB_3; BTB/POZ domain
    2. XM_047418380.1XP_047274336.1  BTB/POZ domain-containing protein KCTD20 isoform X3

    3. XM_005248940.6XP_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:119207
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam16017
      Location:151380
      BTB_3; BTB/POZ domain
    4. XM_047418381.1XP_047274337.1  BTB/POZ domain-containing protein KCTD20 isoform X3

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

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

    7. XM_006715023.3XP_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:119207
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam16017
      Location:151380
      BTB_3; BTB/POZ domain
    8. XM_047418377.1XP_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_054354655.1XP_054210630.1  BTB/POZ domain-containing protein KCTD20 isoform X1

      UniProtKB/Swiss-Prot
      B4DZD3, B4E2Q3, F5H3T3, Q5W105, Q69YQ7, Q7Z5Y7, Q8IZ55
    2. XM_054354660.1XP_054210635.1  BTB/POZ domain-containing protein KCTD20 isoform X3

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

      UniProtKB/Swiss-Prot
      B4DZD3, B4E2Q3, F5H3T3, Q5W105, Q69YQ7, Q7Z5Y7, Q8IZ55
    4. XM_054354661.1XP_054210636.1  BTB/POZ domain-containing protein KCTD20 isoform X3

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

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

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

      UniProtKB/Swiss-Prot
      B4DZD3, B4E2Q3, F5H3T3, Q5W105, Q69YQ7, Q7Z5Y7, Q8IZ55
    8. XM_054354657.1XP_054210632.1  BTB/POZ domain-containing protein KCTD20 isoform X1

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