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    KCTD15 potassium channel tetramerisation domain containing 15 [ Homo sapiens (human) ]

    Gene ID: 79047, updated on 13-Jun-2013
    Official Symbol
    KCTD15provided by HGNC
    Official Full Name
    potassium channel tetramerisation domain containing 15provided by HGNC
    Primary source
    HGNC:23297
    See related
    Ensembl:ENSG00000153885; HPRD:13765; MIM:615240; Vega:OTTHUMG00000180475
    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
    Location :
    19q13.11
    Sequence :
    Chromosome: 19; NC_000019.9 (34287751..34306666)
    See KCTD15 in Epigenomics, MapViewer

    Chromosome 19 - NC_000019.9Genomic Context describing neighboring genes Neighboring gene ribosomal protein L21 pseudogene 131 Neighboring gene carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 Neighboring gene uncharacterized LOC100288860 Neighboring gene ribosomal protein S4X pseudogene 20

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Inhibition of neural crest formation by Kctd15 involves regulation of transcription factor AP-2. Zarelli VE, et al. Proc Natl Acad Sci U S A, 2013 Feb 19. PMID 23382213.
    2. Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. GENDEP Investigators, et al. Am J Psychiatry, 2013 Feb 1. PMID 23377640.
    3. Development and application of a DNA microarray-based yeast two-hybrid system. Suter B, et al. Nucleic Acids Res, 2013 Feb 1. PMID 23275563.
    4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Comuzzie AG, et al. PLoS One, 2012. PMID 23251661.
    5. Comparative proteomic analysis identifies a role for SUMO in protein quality control. Tatham MH, et al. Sci Signal, 2011 Jun 21. PMID 21693764.

    See all (35) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. results indicate that Kctd15 acts in the embryo at least in part by specifically binding to the activation domain of AP-2alpha, thereby blocking the function of this critical factor in the neural crest induction hierarchy.
      Title: Inhibition of neural crest formation by Kctd15 involves regulation of transcription factor AP-2.
    2. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: MC4R variant is associated with BMI but not response to resistance training in young females.
    3. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Analyses of shared genetic factors between asthma and obesity in children.
    5. Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
    Submit: New GeneRIF Correction

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    Q96SI1 O43768 ENSA    HPRD  PubMed  
    Q96SI1 P00797 REN    HPRD  PubMed  
    Q96SI1 P14373 TRIM27    HPRD  PubMed  
    Q96SI1 Q5MNZ9 WIPI1    HPRD  PubMed  
    BioGRID:122506 BioGRID:112217 ATXN1    BioGRID  PubMed Two-hybrid 
    BioGRID:122506 BioGRID:111904 REN    BioGRID  PubMed Two-hybrid 
    BioGRID:122506 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:122506 BioGRID:112872 TERF1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:122506 BioGRID:112873 TERF2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:122506 BioGRID:120380 WIPI1    BioGRID  PubMed Two-hybrid 

    Markers

    Genotypes

    Homology

    Clone Names

    • MGC2628, MGC25497

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    protein homooligomerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    BTB/POZ domain-containing protein KCTD15
    Names
    BTB/POZ domain-containing protein KCTD15

    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_001129994.1 → NP_001123466.1  BTB/POZ domain-containing protein KCTD15 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses a different splice site in the 3' coding region, compared to variant 1, that results in a frameshift. The resulting protein (isoform 2) has a longer and distinct C-terminus compared to isoform 1. Variants 2 and 3 both encode the same protein.
      Source sequence(s)
      AI741557, AK025590, AK027901, AK225793, BP339379, CX752088
      Consensus CDS
      CCDS46039.1
      UniProtKB/Swiss-Prot
      Q96SI1
      Conserved Domains (1) summary
      cl02518
      Location:58 – 145
      Blast Score: 177
      BTB; BTB/POZ domain

    2. NM_001129995.1 → NP_001123467.1  BTB/POZ domain-containing protein KCTD15 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses a different splice site in the 5' UTR and in the 3' coding region, compared to variant 1, that results in a frameshift. The resulting protein (isoform 2) has a longer and distinct C-terminus compared to isoform 1. Variants 2 and 3 both encode the same protein.
      Source sequence(s)
      AC008556, AI741557, AK291465, BP339379
      Consensus CDS
      CCDS46039.1
      UniProtKB/Swiss-Prot
      Q96SI1
      Conserved Domains (1) summary
      cl02518
      Location:58 – 145
      Blast Score: 177
      BTB; BTB/POZ domain

    3. NM_024076.2 → NP_076981.2  BTB/POZ domain-containing protein KCTD15 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant represents the longest transcript yet it encodes the shorter protein (isoform 1).
      Source sequence(s)
      AC008556, AI741557, BP339379, CN301512
      Consensus CDS
      CCDS12434.1
      UniProtKB/Swiss-Prot
      Q96SI1
      Related
      ENSP00000284006, OTTHUMP00000264350, ENST00000284006, OTTHUMT00000451459
      Conserved Domains (1) summary
      cl02518
      Location:58 – 145
      Blast Score: 177
      BTB; BTB/POZ domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000019.9 Reference GRCh37.p10 Primary Assembly

      Range
      34287751..34306666
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000151.1 Alternate HuRef

      Range
      30786796..30805705
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018930.1 Alternate CHM1_1.0

      Range
      34445307..34464304
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01004317.1 None
    genomic AC005615.1 (41899..42619) None
    genomic AC008556.5 (119363..137474) None
    genomic AMYH01009707.1 (13087..14325) None
    genomic AMYH01009708.1 None
    mRNA AI741557.1 None
    mRNA AK025590.1 None
    mRNA AK027901.1 BAB55443.1
    mRNA AK096843.1 BAG53375.1
    mRNA AK225793.1 None
    mRNA AK291465.1 BAF84154.1
    mRNA AK294543.1 BAG57750.1
    mRNA BC001185.1 AAH01185.1
    mRNA BC009335.2 AAH09335.1
    mRNA BP339379.1 None
    mRNA CN301512.1 None
    mRNA CX752088.1 None
    other-genetic HQ448199.1 ADQ32680.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96SI1.1 GenPept UniProtKB/Swiss-Prot:Q96SI1

    Gene LinkOut

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

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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