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Aliases for KCTD7 Gene

Aliases for KCTD7 Gene

  • Potassium Channel Tetramerization Domain Containing 7 2 3
  • Potassium Channel Tetramerisation Domain Containing 7 2 3
  • CLN14 3 6
  • EPM3 3 6
  • BTB/POZ Domain-Containing Protein KCTD7 3

External Ids for KCTD7 Gene

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 Activation of cAMP-Dependent PKA and Activation of cAMP-Dependent PKA. An important paralog of this gene is GAPVD1.

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

Genomic Location for KCTD7 Gene

Start:
66,628,881 bp from pter
End:
66,811,187 bp from pter
Size:
182,307 bases
Orientation:
Plus strand

Genomic View for KCTD7 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KCTD7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCTD7 Gene

Regulatory Elements 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

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

No data available for DME Specific Peptides for KCTD7 Gene

Domains for KCTD7 Gene

Protein Domains for KCTD7 Gene

UniProtKB/Swiss-Prot:

KCTD7_HUMAN
Domain:
  • Contains 1 BTB (POZ) domain.:
    • Q96MP8
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:0003677 DNA binding --
GO:0005515 protein binding --
GO:0008270 zinc ion binding --
genes like me logo Genes that share ontologies with KCTD7: view

miRNA for KCTD7 Gene

miRTarBase miRNAs that target KCTD7

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for KCTD7 Gene COMPARTMENTS Subcellular localization image for KCTD7 gene
Compartment Confidence
endosome 5
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for KCTD7 Gene

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

Pathways 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0008219 cell death --
GO:0051260 protein homooligomerization IEA --
genes like me logo Genes that share ontologies with KCTD7: view

Transcripts for KCTD7 Gene

mRNA/cDNA 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
KCTD7
ECgene alternative splicing isoforms for
KCTD7

Expression for KCTD7 Gene

mRNA expression in normal human tissues for KCTD7 Gene

Integrated Proteomics: protein expression 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 expressions with KCTD7: view

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 KCTD7 36
  • 99.31 (n)
  • 100 (a)
RABGEF1 37
  • 100 (a)
OneToMany
cow
(Bos Taurus)
Mammalia KCTD7 36
  • 92.16 (n)
  • 97.92 (a)
RABGEF1 37
  • 97 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 37
  • 63 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Kctd7 36
  • 91.46 (n)
  • 97.58 (a)
Kctd7 16
Rabgef1 37
  • 96 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 92 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 89 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Kctd7 36
  • 91.23 (n)
  • 97.23 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 89 (a)
OneToMany
KCTD7 36
  • 75.32 (n)
  • 87.89 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia kctd7 36
  • 71.63 (n)
  • 78.89 (a)
zebrafish
(Danio rerio)
Actinopterygii kctd7 36
  • 71.28 (n)
  • 74.39 (a)
rabgef1 37
  • 71 (a)
ManyToMany
rabgef1l 37
  • 53 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Rabex-5 37
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rabx-5 37
  • 25 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS9 37
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1840 37
  • 34 (a)
OneToMany
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

ENSEMBL:
Gene Tree for KCTD7 (if available)
TreeFam:
Gene Tree for KCTD7 (if available)

Paralogs for KCTD7 Gene

Paralogs for KCTD7 Gene

Selected SIMAP similar genes for KCTD7 Gene using alignment to 4 proteins:

Pseudogenes.org 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 MAF
rs1267818 -- 66,642,037(-) GGCCC(A/G)TCTCA utr-variant-3-prime
rs1610759 -- 66,636,760(+) agaac(A/G)agatc intron-variant
rs1618893 -- 66,631,132(-) TTCAC(C/T)GAATG intron-variant
rs1638732 -- 66,637,231(-) gtggg(C/T)gtctg intron-variant
rs1638734 -- 66,632,552(-) TTCAC(G/T)GCATA intron-variant

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

Relevant External Links for KCTD7 Gene

HapMap Linkage Disequilibrium report
KCTD7
Human Gene Mutation Database (HGMD)
KCTD7

Disorders for KCTD7 Gene

(1) OMIM Diseases for KCTD7 Gene (611725)

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}.

Relevant External Links for KCTD7

Genetic Association Database (GAD)
KCTD7
Human Genome Epidemiology (HuGE) Navigator
KCTD7
genes like me logo Genes that share disorders with KCTD7: view

Publications for KCTD7 Gene

  1. 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
  2. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. Mutation of a potassium channel-related gene in progressive myoclonic epilepsy. (PMID: 17455289) Van Bogaert P. … Abramowicz M.J. (Ann. Neurol. 2007) 3 4
  5. Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study. (PMID: 21223598) Wineinger N.E. … Tiwari H.K. (BMC Med Genomics 2011) 3 49

Products for KCTD7 Gene

Sources for KCTD7 Gene

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