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Aliases for KCTD7 Gene

Aliases for KCTD7 Gene

  • Potassium Channel Tetramerization Domain Containing 7 2 3 5
  • Potassium Channel Tetramerisation Domain Containing 7 2 3
  • CLN14 3
  • EPM3 3

External Ids for KCTD7 Gene

Previous GeneCards Identifiers for KCTD7 Gene

  • GC07P065505
  • GC07P065538
  • GC07P065731
  • GC07P066093
  • GC07P062278

Summaries for KCTD7 Gene

Entrez Gene Summary for KCTD7 Gene

  • 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]

GeneCards Summary for KCTD7 Gene

KCTD7 (Potassium Channel Tetramerization Domain Containing 7) is a Protein Coding gene. Diseases associated with KCTD7 include Epilepsy, Progressive Myoclonic 3, With Or Without Intracellular Inclusions and Epilepsy Progressive Myoclonic Type 3. Among its related pathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Activation of cAMP-Dependent PKA. An important paralog of this gene is KCTD14.

UniProtKB/Swiss-Prot for KCTD7 Gene

  • May be involved in the control of excitability of cortical neurons.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCTD7 Gene

Genomics for KCTD7 Gene

Regulatory Elements for KCTD7 Gene

Enhancers for KCTD7 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KCTD7 on UCSC Golden Path with GeneCards custom track

Promoters for KCTD7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KCTD7 on UCSC Golden Path with GeneCards custom track

Genomic Location for KCTD7 Gene

66,628,881 bp from pter
66,811,187 bp from pter
182,307 bases
Plus strand

Genomic View for KCTD7 Gene

Genes around KCTD7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCTD7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCTD7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCTD7 Gene

Proteins for KCTD7 Gene

  • Protein details for KCTD7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    BTB/POZ domain-containing protein KCTD7
    Protein Accession:
    Secondary Accessions:
    • A4D2M4
    • Q8IVR0

    Protein attributes for KCTD7 Gene

    289 amino acids
    Molecular mass:
    33132 Da
    Quaternary structure:
    • Interacts with CUL3.

    Alternative splice isoforms for KCTD7 Gene


neXtProt entry for KCTD7 Gene

Proteomics data for KCTD7 Gene at MOPED

Post-translational modifications for KCTD7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCTD7 Gene

Antibody Products

  • Abcam antibodies for KCTD7
  • Santa Cruz Biotechnology (SCBT) Antibodies for KCTD7

No data available for DME Specific Peptides for KCTD7 Gene

Domains & Families for KCTD7 Gene

Protein Domains for KCTD7 Gene

Suggested Antigen Peptide Sequences for KCTD7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 BTB (POZ) domain.
  • Contains 1 BTB (POZ) domain.
genes like me logo Genes that share domains with KCTD7: view

No data available for Gene Families for KCTD7 Gene

Function for KCTD7 Gene

Molecular function for KCTD7 Gene

UniProtKB/Swiss-Prot Function:
May be involved in the control of excitability of cortical neurons.

Gene Ontology (GO) - Molecular Function for KCTD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with KCTD7: view
genes like me logo Genes that share phenotypes with KCTD7: view

Human Phenotype Ontology for KCTD7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for KCTD7 Gene

Localization for KCTD7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCTD7 Gene

Cell membrane. Cytoplasm, cytosol.

Subcellular locations from

Jensen Localization Image for KCTD7 Gene COMPARTMENTS Subcellular localization image for KCTD7 gene
Compartment Confidence
cytosol 5
endosome 5
plasma membrane 5
lysosome 2
vacuole 2

No data available for Gene Ontology (GO) - Cellular Components for KCTD7 Gene

Pathways & Interactions for KCTD7 Gene

genes like me logo Genes that share pathways with KCTD7: view

Interacting Proteins for KCTD7 Gene

Gene Ontology (GO) - Biological Process for KCTD7 Gene


No data available for SIGNOR curated interactions for KCTD7 Gene

Drugs & Compounds for KCTD7 Gene

No Compound Related Data Available

Transcripts for KCTD7 Gene

Unigene Clusters for KCTD7 Gene

Potassium channel tetramerisation domain containing 7:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KCTD7 Gene

No ASD Table

Relevant External Links for KCTD7 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KCTD7 Gene

mRNA expression in normal human tissues for KCTD7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KCTD7 Gene

This gene is overexpressed in Bone (62.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for KCTD7 Gene

SOURCE GeneReport for Unigene cluster for KCTD7 Gene Hs.546627

genes like me logo Genes that share expression patterns with KCTD7: view

Protein tissue co-expression partners for KCTD7 Gene

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for KCTD7 Gene

Orthologs for KCTD7 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for KCTD7 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia KCTD7 35
  • 92.16 (n)
  • 97.92 (a)
  • 97 (a)
(Mus musculus)
Mammalia Kctd7 35
  • 91.46 (n)
  • 97.58 (a)
Kctd7 16
Rabgef1 36
  • 96 (a)
(Pan troglodytes)
Mammalia KCTD7 35
  • 99.31 (n)
  • 100 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Kctd7 35
  • 91.23 (n)
  • 97.23 (a)
(Canis familiaris)
Mammalia -- 36
  • 63 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 92 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 89 (a)
(Gallus gallus)
Aves KCTD7 35
  • 75.32 (n)
  • 87.89 (a)
-- 36
  • 89 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia kctd7 35
  • 71.63 (n)
  • 78.89 (a)
(Danio rerio)
Actinopterygii kctd7 35
  • 71.28 (n)
  • 74.39 (a)
rabgef1 36
  • 71 (a)
rabgef1l 36
  • 53 (a)
fruit fly
(Drosophila melanogaster)
Insecta Rabex-5 36
  • 20 (a)
(Caenorhabditis elegans)
Secernentea rabx-5 36
  • 25 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS9 36
  • 19 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1840 36
  • 34 (a)
Species with no ortholog for KCTD7:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KCTD7 Gene

Gene Tree for KCTD7 (if available)
Gene Tree for KCTD7 (if available)

Paralogs for KCTD7 Gene

Paralogs for KCTD7 Gene

(12) SIMAP similar genes for KCTD7 Gene using alignment to 4 proteins: Pseudogenes for KCTD7 Gene

genes like me logo Genes that share paralogs with KCTD7: view

Variants for KCTD7 Gene

Sequence variations from dbSNP and Humsavar for KCTD7 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_068775 -
VAR_068776 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3)
VAR_068777 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3)
VAR_068778 -
VAR_068779 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3)

Structural Variations from Database of Genomic Variants (DGV) for KCTD7 Gene

Variant ID Type Subtype PubMed ID
esv2734599 CNV Deletion 23290073
esv2665862 CNV Deletion 23128226

Variation tolerance for KCTD7 Gene

Residual Variation Intolerance Score: 26.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.24; 24.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCTD7 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCTD7 Gene

Disorders for KCTD7 Gene

MalaCards: The human disease database

(7) MalaCards diseases for KCTD7 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epilepsy, progressive myoclonic 3, with or without intracellular inclusions
  • progressive myoclonic epilepsy 3
epilepsy progressive myoclonic type 3
  • epm 3
cln14 disease
  • kctd7-related neuronal ceroid-lipofuscinosis
neuronal ceroid lipofuscinosis
  • neuronal ceroid-lipofuscinoses
progressive myoclonus epilepsy
  • unverricht-lundborg syndrome
- elite association - COSMIC cancer census association via MalaCards
Search KCTD7 in MalaCards View complete list of genes associated with diseases


  • Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3) [MIM:611726]: An autosomal recessive, severe, progressive myoclonic epilepsy with early onset. Multifocal myoclonic seizures begin between 16 and 24 months of age after normal initial development. Neurodegeneration and regression occur with seizure onset. Other features include mental retardation, dysarthria, truncal ataxia, and loss of fine finger movements. EEG shows slow dysrhythmia, multifocal and occasionally generalized epileptiform discharges. In some patients, ultrastructural findings on skin biopsies identify intracellular accumulation of autofluorescent lipopigment storage material, consistent with neuronal ceroid lipofuscinosis. {ECO:0000269 PubMed:17455289, ECO:0000269 PubMed:22606975, ECO:0000269 PubMed:22612257, ECO:0000269 PubMed:22693283, ECO:0000269 PubMed:22748208}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in KCTD7 are a cause of opsoclonus-myoclonus ataxia-like syndrome. Opsoclonus myoclonus ataxia syndrome (OMS) is a rare pervasive and frequently permanent disorder that usually develops in previously healthy children with normal premorbid psychomotor development and characterized by association of abnormal eye movements (opsoclonus), severe dyskinesia (myoclonus), cerebellar ataxia, functional regression, and behavioral problems. The syndrome is considered to be an immune-mediated disorder and may be tumor-associated or idiopathic. OMS is one of a few steroid responsive disorders of childhood. KCTD7 mutations have been found in a patient with an atypical clinical presentation characterized by non-epileptic myoclonus and ataxia commencing in early infancy, abnormal opsoclonus-like eye movements, improvement of clinical symptoms under steroid treatment, and subsequent development of generalized epilepsy (PubMed:22638565). {ECO:0000269 PubMed:22638565}.

Relevant External Links for KCTD7

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with KCTD7: view

No data available for Genatlas for KCTD7 Gene

Publications for KCTD7 Gene

  1. A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. (PMID: 22748208) Staropoli J.F. … Cotman S.L. (Am. J. Hum. Genet. 2012) 3 4 67
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  3. The contribution of common genetic variation to nicotine and cotinine glucuronidation in multiple ethnic/racial populations. (PMID: 25293881) Patel Y.M. … Murphy S.E. (Cancer Epidemiol. Biomarkers Prev. 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia. (PMID: 25060828) Farhan S.M. … Hegele R.A. (Epilepsia 2014) 3

Products for KCTD7 Gene

Sources for KCTD7 Gene