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    KCTD7 potassium channel tetramerization domain containing 7 [ Homo sapiens (human) ]

    Gene ID: 154881, updated on 17-Jun-2024

    Summary

    Official Symbol
    KCTD7provided by HGNC
    Official Full Name
    potassium channel tetramerization domain containing 7provided by HGNC
    Primary source
    HGNC:HGNC:21957
    See related
    Ensembl:ENSG00000243335 MIM:611725; AllianceGenome:HGNC:21957
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EPM3; CLN14
    Summary
    This gene encodes a member of the potassium channel tetramerization domain-containing protein family. Family members are identified on a structural basis and contain an amino-terminal domain similar to the T1 domain present in the voltage-gated potassium channel. Mutations in this gene have been associated with progressive myoclonic epilepsy-3. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]
    Expression
    Ubiquitous expression in testis (RPKM 11.8), brain (RPKM 8.8) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KCTD7 in Genome Data Viewer
    Location:
    7q11.21
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (66628881..66643229)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (67848529..67862889)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (66093868..66108216)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RABGEF1 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:66022503-66023318 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:66023319-66024134 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:66024161-66024393 Neighboring gene suppressor APC domain containing 2 pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:66054213-66054714 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18207 Neighboring gene Sharpr-MPRA regulatory region 7945 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:66057822-66057993 Neighboring gene ribosomal protein L35 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18210 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26084 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26085 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:66118787-66119392 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:66119393-66119998 Neighboring gene uncharacterized LOC100996437 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:66119999-66120604 Neighboring gene MPRA-validated peak6548 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:66131083-66131823 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:66131824-66132563 Neighboring gene RAB guanine nucleotide exchange factor 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:66146939-66147678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:66157983-66158483 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:66161889-66162390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:66192681-66193181 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26086 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:66205397-66206063 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26087 Neighboring gene uncharacterized LOC107986707

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Progressive myoclonic epilepsy type 3
    MedGen: C2673257 OMIM: 611726 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study.
    EBI GWAS Catalog
    The Contribution of Common Genetic Variation to Nicotine and Cotinine Glucuronidation in Multiple Ethnic/Racial Populations.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human potassium channel tetramerisation domain containing 7 (KCTD7) at amino acid residues 510-511 by the HIV-1 protease PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ32069, FLJ45891

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in intracellular glutamate homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intracellular potassium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in membrane hyperpolarization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein homooligomerization IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    BTB/POZ domain-containing protein KCTD7
    Names
    potassium channel tetramerisation domain containing 7

    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.

    Genomic

    1. NG_028110.2 RefSeqGene

      Range
      5001..19167
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_835

    mRNA and Protein(s)

    1. NM_001167961.2NP_001161433.1  BTB/POZ domain-containing protein KCTD7 isoform 2

      See identical proteins and their annotated locations for NP_001161433.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate segment in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) is 1-aa shorter at the C-terminus, compared to isoform 1.
      Source sequence(s)
      AC006001, AK055201, BC042482, BU682845, BY795857, DA493191
      Consensus CDS
      CCDS55117.1
      UniProtKB/Swiss-Prot
      Q96MP8
      Related
      ENSP00000411624.1, ENST00000443322.1
      Conserved Domains (1) summary
      cl02518
      Location:53138
      BTB; BTB/POZ domain
    2. NM_153033.5NP_694578.1  BTB/POZ domain-containing protein KCTD7 isoform 1

      See identical proteins and their annotated locations for NP_694578.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC006001, AK056631
      Consensus CDS
      CCDS5534.1
      UniProtKB/Swiss-Prot
      A4D2M4, Q8IVR0, Q96MP8
      Related
      ENSP00000492240.1, ENST00000639828.2
      Conserved Domains (1) summary
      cd18366
      Location:48139
      BTB_POZ_KCTD7; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 7 (KCTD7)

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      66628881..66643229
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      67848529..67862889
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)