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

Gene ID: 222658, updated on 15-Jun-2019

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
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
Expression
Ubiquitous expression in fat (RPKM 16.9), gall bladder (RPKM 16.8) and 25 other tissues See more
Orthologs

Genomic context

See KCTD20 in Genome Data Viewer
Location:
6p21.31
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (36442767..36491143)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (36410544..36458918)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ETS variant 7 Neighboring gene uncharacterized LOC105375037 Neighboring gene peroxisomal testis enriched protein 1 Neighboring gene PXT1 intron CAGE-defined low expression enhancer Neighboring gene RNA, 7SL, cytoplasmic 502, pseudogene Neighboring gene serine/threonine kinase 38 Neighboring gene RNA, 7SL, cytoplasmic 748, pseudogene Neighboring gene serine and arginine rich splicing factor 3

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 FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC14254

Gene Ontology Provided by GOA

Process Evidence Code Pubs
positive regulation of phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
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)

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_001286580.1NP_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
    pfam16017
    Location:178
    BTB_3; BTB/POZ domain
    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
    Q7Z5Y7
    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_104480.1 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_104481.1 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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    36442767..36491143
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514398.3XP_011512700.1  BTB/POZ domain-containing protein KCTD20 isoform X1

    See identical proteins and their annotated locations for XP_011512700.1

    UniProtKB/Swiss-Prot
    Q7Z5Y7
    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_005248940.5XP_005248997.1  BTB/POZ domain-containing protein KCTD20 isoform X1

    See identical proteins and their annotated locations for XP_005248997.1

    UniProtKB/Swiss-Prot
    Q7Z5Y7
    Conserved Domains (2) summary
    smart00225
    Location:119207
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam16017
    Location:151380
    BTB_3; BTB/POZ domain
  3. XM_006715023.2XP_006715086.1  BTB/POZ domain-containing protein KCTD20 isoform X1

    See identical proteins and their annotated locations for XP_006715086.1

    UniProtKB/Swiss-Prot
    Q7Z5Y7
    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. XR_001743256.1 RNA Sequence

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