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 m... See more...

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
  • BTB/POZ Domain-Containing Protein KCTD7 3 4
  • CLN14 2 3
  • EPM3 2 3
  • FLJ32069 2
  • KCTD7 5

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 Sweet Taste Signaling and Hepatic ABC Transporters. An important paralog of this gene is KCTD14.

UniProtKB/Swiss-Prot Summary for KCTD7 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCTD7 Gene

Genomics for KCTD7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KCTD7 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCTD7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCTD7

Top Transcription factor binding sites by QIAGEN in the KCTD7 gene promoter:
  • Gfi-1
  • HEN1
  • Ik-1
  • Lmo2
  • Max
  • NRF-2
  • Olf-1
  • RP58
  • YY1

Genomic Locations for KCTD7 Gene

Genomic Locations for KCTD7 Gene
chr7:66,628,767-66,649,067
(GRCh38/hg38)
Size:
20,301 bases
Orientation:
Plus strand
chr7:66,093,868-66,276,446
(GRCh37/hg19)
Size:
182,579 bases
Orientation:
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:
    Q96MP8-KCTD7_HUMAN
    Recommended name:
    BTB/POZ domain-containing protein KCTD7
    Protein Accession:
    Q96MP8
    Secondary Accessions:
    • A4D2M4
    • Q8IVR0

    Protein attributes for KCTD7 Gene

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

    Alternative splice isoforms for KCTD7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCTD7 Gene

Post-translational modifications for KCTD7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KCTD7 Gene

Domains & Families for KCTD7 Gene

Gene Families for KCTD7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for KCTD7 Gene

Suggested Antigen Peptide Sequences for KCTD7 Gene

GenScript: Design optimal peptide antigens:
  • BTB/POZ domain-containing protein KCTD7 (KCTD7_HUMAN)
genes like me logo Genes that share domains with KCTD7: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for KCTD7 Gene

Gene Ontology (GO) - Molecular Function for KCTD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 22748208
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCTD7

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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCTD7 gene
Compartment Confidence
plasma membrane 5
cytosol 5
lysosome 2
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for KCTD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005737 cytoplasm IEA,IDA 22748208
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA,IDA 22748208
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with KCTD7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCTD7 Gene

Pathways & Interactions for KCTD7 Gene

PathCards logo

SuperPathways for KCTD7 Gene

SuperPathway Contained pathways
1 Sweet Taste Signaling
.72
.72
.46
.44
.37
2 Activation of cAMP-Dependent PKA
.77
.77
.56
3 Neuropathic Pain-Signaling in Dorsal Horn Neurons
.47
.47
.40
4 Class I MHC mediated antigen processing and presentation
5 Hepatic ABC Transporters
.41
.41
genes like me logo Genes that share pathways with KCTD7: view

Pathways by source for KCTD7 Gene

13 Qiagen pathways for KCTD7 Gene
  • Activation of cAMP-Dependent PKA
  • Aldosterone Signaling in Epithelial Cells
  • Bitter Taste Signaling
  • cAMP Pathway
  • Cellular Effects of Sildenafil

Gene Ontology (GO) - Biological Process for KCTD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030007 cellular potassium ion homeostasis IEA --
GO:0032411 positive regulation of transporter activity IEA,IBA 21873635
GO:0043687 post-translational protein modification TAS --
GO:0051260 protein homooligomerization IEA --
GO:0060081 membrane hyperpolarization IEA,IBA 21873635
genes like me logo Genes that share ontologies with KCTD7: view

No data available for SIGNOR curated interactions for KCTD7 Gene

Drugs & Compounds for KCTD7 Gene

No Compound Related Data Available

Transcripts for KCTD7 Gene

mRNA/cDNA for KCTD7 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCTD7

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

No ASD Table

Relevant External Links for KCTD7 Gene

GeneLoc Exon Structure for
KCTD7

Expression for KCTD7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for KCTD7 Gene



Protein tissue co-expression partners for KCTD7 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KCTD7

SOURCE GeneReport for Unigene cluster for KCTD7 Gene:

Hs.546627

Evidence on tissue expression from TISSUES for KCTD7 Gene

  • Nervous system(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KCTD7 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • head
genes like me logo Genes that share expression patterns with KCTD7: view

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
Chimpanzee
(Pan troglodytes)
Mammalia RABGEF1 31
  • 100 (a)
OneToMany
KCTD7 30
  • 99.31 (n)
Cow
(Bos Taurus)
Mammalia RABGEF1 31
  • 97 (a)
OneToMany
KCTD7 30
  • 92.16 (n)
Mouse
(Mus musculus)
Mammalia Rabgef1 31
  • 96 (a)
OneToMany
Kctd7 30 17
  • 91.46 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 92 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Kctd7 30
  • 91.23 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 89 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia -- 31
  • 63 (a)
OneToMany
Chicken
(Gallus gallus)
Aves -- 31
  • 89 (a)
OneToMany
KCTD7 30
  • 75.32 (n)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kctd7 30
  • 71.63 (n)
Zebrafish
(Danio rerio)
Actinopterygii kctd7 30
  • 71.28 (n)
rabgef1 31
  • 71 (a)
ManyToMany
rabgef1l 31
  • 53 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Rabex-5 31
  • 20 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea rabx-5 31
  • 25 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS9 31
  • 19 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1840 31
  • 34 (a)
OneToMany
Species where no ortholog for KCTD7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

ENSEMBL:
Gene Tree for KCTD7 (if available)
TreeFam:
Gene Tree for KCTD7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KCTD7: view image

Paralogs for KCTD7 Gene

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

  • KCTD7_HUMAN
  • C9JTB6_HUMAN
  • E7ERJ8_HUMAN
  • E9PHB8_HUMAN

Pseudogenes.org Pseudogenes for KCTD7 Gene

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

Variants for KCTD7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCTD7 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
641399 Uncertain Significance: Epilepsy, progressive myoclonic 3 66,638,378(+) T/C MISSENSE_VARIANT
656995 Uncertain Significance: Epilepsy, progressive myoclonic 3 66,629,212(+) C/A INTRON_VARIANT
658212 Uncertain Significance: Epilepsy, progressive myoclonic 3 66,638,338(+) A/G MISSENSE_VARIANT
662720 Uncertain Significance: Epilepsy, progressive myoclonic 3 66,639,072(+) C/G MISSENSE_VARIANT
664309 Uncertain Significance: Epilepsy, progressive myoclonic 3 66,629,086(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for KCTD7 Gene

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

Variant ID Type Subtype PubMed ID
esv2665862 CNV deletion 23128226
esv2761151 CNV gain 21179565
esv3571890 CNV loss 25503493
esv3613515 CNV gain 21293372
esv3613516 CNV gain 21293372
esv3891135 CNV gain 25118596

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)

Additional Variant Information for KCTD7 Gene

Human Gene Mutation Database (HGMD)
KCTD7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCTD7

SNP Genotyping and Copy Number Assay Products

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

Disorders for KCTD7 Gene

MalaCards: The human disease database

(30) MalaCards diseases for KCTD7 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search KCTD7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KCTD7_HUMAN
  • 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}.

Additional Disease Information for KCTD7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 JF … Cotman SL (American journal of human genetics 2012) 2 3 4
  2. Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy. (PMID: 22606975) Krabichler B … Haberlandt E (Annals of human genetics 2012) 2 3 4
  3. Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene. (PMID: 22693283) Kousi M … Lehesjoki AE (Journal of medical genetics 2012) 3 4
  4. Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study. (PMID: 21223598) Wineinger NE … Tiwari HK (BMC medical genomics 2011) 3 41
  5. Mutation of a potassium channel-related gene in progressive myoclonic epilepsy. (PMID: 17455289) Van Bogaert P … Abramowicz MJ (Annals of neurology 2007) 3 4

Products for KCTD7 Gene

Sources for KCTD7 Gene