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KCTD2 potassium channel tetramerization domain containing 2 [ Homo sapiens (human) ]

Gene ID: 23510, updated on 5-Mar-2024

Summary

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Official Symbol
KCTD2provided by HGNC
Official Full Name
potassium channel tetramerization domain containing 2provided by HGNC
Primary source
HGNC:HGNC:21294
See related
Ensembl:ENSG00000180901 MIM:613422; AllianceGenome:HGNC:21294
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
Summary
Predicted to enable cullin family protein binding activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Predicted to be part of Cul3-RING ubiquitin ligase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 22.9), brain (RPKM 16.4) and 24 other tissues See more
Orthologs
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Genomic context

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See KCTD2 in Genome Data Viewer
Location:
17q25.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (75032571..75065886)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (75924318..75957335)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73028666..73061981)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:73008409-73009092 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:73009093-73009775 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:73015923-73017122 Neighboring gene mitochondrial ribosomal protein L58 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:73021286-73021443 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73029803-73030784 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12730 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8952 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:73031872-73032031 Neighboring gene RNA, U6 small nuclear 362, pseudogene Neighboring gene tRNA-Arg (anticodon CCT) 1-1 Neighboring gene tRNA-Arg (anticodon CCT) 2-1 Neighboring gene tRNA-Arg (anticodon TCG) 3-1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73037362-73037932 Neighboring gene Sharpr-MPRA regulatory region 3986 Neighboring gene RNA, 7SL, cytoplasmic 573, pseudogene Neighboring gene ATP synthase peripheral stalk subunit d Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12732 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:73074528-73075727 Neighboring gene tripartite motif containing 80, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8954 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73089299-73089872 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73089873-73090445 Neighboring gene solute carrier family 16 member 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73100784-73101284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73101285-73101785 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8955 Neighboring gene armadillo repeat containing 7

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. ATP5H/KCTD2 locus is associated with Alzheimer's disease risk. Boada M, et al. Mol Psychiatry, 2014 Jun. PMID 23857120, Free PMC Article
  2. Radiation hybrid map, physical map, and low-pass genomic sequence of the canine prcd region on CFA9 and comparative mapping with the syntenic region on human chromosome 17. Sidjanin DJ, et al. Genomics, 2003 Feb. PMID 12620391
  3. KCTD2, an adaptor of Cullin3 E3 ubiquitin ligase, suppresses gliomagenesis by destabilizing c-Myc. Kim EJ, et al. Cell Death Differ, 2017 Apr. PMID 28060381, Free PMC Article
  4. Human Multisubunit E3 Ubiquitin Ligase Required for Heterotrimeric G-Protein β-Subunit Ubiquitination and Downstream Signaling. Young BD, et al. J Proteome Res, 2021 Sep 3. PMID 34342229
  5. Whole genome association scan for genetic polymorphisms influencing information processing speed. Luciano M, et al. Biol Psychol, 2011 Mar. PMID 21130836, Free PMC Article

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

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

EBI GWAS Catalog

Description
Whole genome association scan for genetic polymorphisms influencing information processing speed.
EBI GWAS Catalog

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

  • FLJ18320, KIAA0176

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cullin family protein binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein-containing complex binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein homooligomerization IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of Cul3-RING ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
BTB/POZ domain-containing protein KCTD2
Names
potassium channel tetramerisation domain containing 2
potassium channel tetramerization domain-containing protein 2

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_015353.3 → NP_056168.1  BTB/POZ domain-containing protein KCTD2

    See identical proteins and their annotated locations for NP_056168.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the protein.
    Source sequence(s)
    BC033329, CD742648, D79998, DB460074
    Consensus CDS
    CCDS32728.1
    UniProtKB/Swiss-Prot
    Q14681
    Related
    ENSP00000312814.6, ENST00000322444.7
    Conserved Domains (1) summary
    cd18389
    Location:72 → 177
    BTB_POZ_KCTD2; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 2 (KCTD2)

RNA

  1. NR_110834.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate segment in the 5' region, compared to variant 1. This variant is represented as non-coding because the in-frame ORF does not meet RefSeq quality criteria.
    Source sequence(s)
    AC087651, BC033329, CD742648
    Related
    ENST00000375286.7

  2. NR_110835.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an exon and contains three alternate 5' exons, compared to variant 1. This variant is represented as non-coding because the in-frame ORF does not meet RefSeq quality criteria.
    Source sequence(s)
    AK307083, BC033329, CD742648, DA408645

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    75032571..75065886
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    75924318..75957335
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14681.3 GenPept UniProtKB/Swiss-Prot:Q14681

Gene LinkOut

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

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