Aliases for KCTD8 Gene

Aliases for KCTD8 Gene

  • Potassium Channel Tetramerization Domain Containing 8 2 3 5
  • Potassium Channel Tetramerisation Domain Containing 8 2 3
  • BTB/POZ Domain-Containing Protein KCTD8 3 4
  • KCTD8 5

External Ids for KCTD8 Gene

Previous GeneCards Identifiers for KCTD8 Gene

  • GC04U900183
  • GC04M044091
  • GC04M044017
  • GC04M043870
  • GC04M043497

Summaries for KCTD8 Gene

GeneCards Summary for KCTD8 Gene

KCTD8 (Potassium Channel Tetramerization Domain Containing 8) is a Protein Coding gene. Diseases associated with KCTD8 include Progressive Myoclonus Epilepsy 3. Among its related pathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Sweet Taste Signaling. An important paralog of this gene is KCTD16.

UniProtKB/Swiss-Prot Summary for KCTD8 Gene

  • Auxiliary subunit of GABA-B receptors that determine the pharmacology and kinetics of the receptor response. Increases agonist potency and markedly alter the G-protein signaling of the receptors by accelerating onset and promoting desensitization (By similarity).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCTD8 Gene

Genomics for KCTD8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KCTD8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J044447 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +1.8 1791 4 ATF2 POLR2A CTCF SIN3A KLF9 SP2 SMC3 GABPB1 MBD1 BHLHE40 KCTD8 RF02093 piR-57460-519
GH04J044725 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 2.7 -276.3 -276309 2.6 MYC KLF9 POLR2A ZIC2 SMAD5 TBP ZNF341 ZFP64 HOMEZ NR2C1 GNPDA2 LOC105374439 lnc-YIPF7-3 lnc-GUF1-9 YIPF7 GUF1 KCTD8 ENSG00000272936
GH04J044414 Enhancer 0.3 Ensembl ENCODE 11.1 +34.5 34491 1.4 KCTD8 piR-57460-519 RF02093
GH04J044522 Enhancer 0.2 ENCODE 15.8 -73.6 -73627 2.4 KCTD8 GNPDA2 GUF1 HSALNG0034157 lnc-GUF1-6
GH04J044424 Enhancer 0.2 Ensembl 11.4 +25.5 25491 0.2 KCTD8 piR-57460-519 RF02093
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCTD8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCTD8

Top Transcription factor binding sites by QIAGEN in the KCTD8 gene promoter:
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2
  • Nkx3-1
  • Nkx3-1 v1
  • NRSF form 1
  • NRSF form 2
  • POU6F1 (c2)

Genomic Locations for KCTD8 Gene

Latest Assembly
chr4:44,173,903-44,449,792
(GRCh38/hg38)
Size:
275,890 bases
Orientation:
Minus strand

Previous Assembly
chr4:44,175,920-44,450,826
(GRCh37/hg19 by Entrez Gene)
Size:
274,907 bases
Orientation:
Minus strand

chr4:44,175,926-44,450,824
(GRCh37/hg19 by Ensembl)
Size:
274,899 bases
Orientation:
Minus strand

Genomic View for KCTD8 Gene

Genes around KCTD8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCTD8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCTD8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCTD8 Gene

Proteins for KCTD8 Gene

  • Protein details for KCTD8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZWB6-KCTD8_HUMAN
    Recommended name:
    BTB/POZ domain-containing protein KCTD8
    Protein Accession:
    Q6ZWB6
    Secondary Accessions:
    • A2RU39

    Protein attributes for KCTD8 Gene

    Size:
    473 amino acids
    Molecular mass:
    52440 Da
    Quaternary structure:
    • Interacts as a tetramer with GABRB1 and GABRB2.

    Three dimensional structures from OCA and Proteopedia for KCTD8 Gene

neXtProt entry for KCTD8 Gene

Post-translational modifications for KCTD8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCTD8 Gene

No data available for DME Specific Peptides for KCTD8 Gene

Domains & Families for KCTD8 Gene

Gene Families for KCTD8 Gene

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

Protein Domains for KCTD8 Gene

InterPro:
Blocks:
  • BTB/POZ domain

Suggested Antigen Peptide Sequences for KCTD8 Gene

GenScript: Design optimal peptide antigens:
  • BTB/POZ domain-containing protein KCTD8 (KCTD8_HUMAN)
genes like me logo Genes that share domains with KCTD8: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KCTD8 Gene

Function for KCTD8 Gene

Molecular function for KCTD8 Gene

UniProtKB/Swiss-Prot Function:
Auxiliary subunit of GABA-B receptors that determine the pharmacology and kinetics of the receptor response. Increases agonist potency and markedly alter the G-protein signaling of the receptors by accelerating onset and promoting desensitization (By similarity).

Phenotypes From GWAS Catalog for KCTD8 Gene

Gene Ontology (GO) - Molecular Function for KCTD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with KCTD8: view
genes like me logo Genes that share phenotypes with KCTD8: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCTD8

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KCTD8 Gene

Localization for KCTD8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCTD8 Gene

Cell junction, synapse, presynaptic cell membrane. Cell junction, synapse, postsynaptic cell membrane.

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 KCTD8 gene
Compartment Confidence
plasma membrane 3
nucleus 3
cytosol 2
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KCTD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
GO:0042734 presynaptic membrane IEA --
genes like me logo Genes that share ontologies with KCTD8: view

Pathways & Interactions for KCTD8 Gene

PathCards logo

SuperPathways for KCTD8 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 Hepatic ABC Transporters
.41
.41
genes like me logo Genes that share pathways with KCTD8: view

Pathways by source for KCTD8 Gene

13 Qiagen pathways for KCTD8 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 KCTD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008277 regulation of G protein-coupled receptor signaling pathway IBA 21873635
GO:0051260 protein homooligomerization IEA --
genes like me logo Genes that share ontologies with KCTD8: view

No data available for SIGNOR curated interactions for KCTD8 Gene

Drugs & Compounds for KCTD8 Gene

No Compound Related Data Available

Transcripts for KCTD8 Gene

mRNA/cDNA for KCTD8 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCTD8

Alternative Splicing Database (ASD) splice patterns (SP) for KCTD8 Gene

No ASD Table

Relevant External Links for KCTD8 Gene

GeneLoc Exon Structure for
KCTD8

Expression for KCTD8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KCTD8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCTD8 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x6.5), Brain - Cerebellum (x6.1), and Brain - Nucleus accumbens (basal ganglia) (x4.8).

Protein differential expression in normal tissues from HIPED for KCTD8 Gene

This gene is overexpressed in Frontal cortex (27.1), Brain (26.2), and Fetal Brain (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KCTD8 Gene



Protein tissue co-expression partners for KCTD8 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KCTD8

SOURCE GeneReport for Unigene cluster for KCTD8 Gene:

Hs.479644

Evidence on tissue expression from TISSUES for KCTD8 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with KCTD8: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KCTD8 Gene

Orthologs for KCTD8 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCTD8 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KCTD8 29 30
  • 99.51 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KCTD8 29 30
  • 93.83 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KCTD8 30
  • 93 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Kctd8 29 16 30
  • 88.58 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Kctd8 29
  • 88.02 (n)
Dog
(Canis familiaris)
Mammalia KCTD8 29 30
  • 86.52 (n)
OneToOne
Chicken
(Gallus gallus)
Aves KCTD8 29 30
  • 83.18 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KCTD8 30
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kctd8 29
  • 72.08 (n)
Zebrafish
(Danio rerio)
Actinopterygii kctd8 29 30
  • 69.78 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000805 29
  • 61.34 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG10830 29 30
  • 59.7 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea VM106R.1 29
  • 50.55 (n)
F32B4.5 30
  • 21 (a)
OneToMany
Species where no ortholog for KCTD8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • 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 Squirt (Ciona savignyi)
  • 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 KCTD8 Gene

ENSEMBL:
Gene Tree for KCTD8 (if available)
TreeFam:
Gene Tree for KCTD8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KCTD8: view image
Alliance of Genome Resources:
Additional Orthologs for KCTD8

Paralogs for KCTD8 Gene

(2) SIMAP similar genes for KCTD8 Gene using alignment to 2 proteins:

  • KCTD8_HUMAN
  • H0Y9S2_HUMAN
genes like me logo Genes that share paralogs with KCTD8: view

Variants for KCTD8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCTD8 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs13115990 -- p.Pro329Leu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KCTD8 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for KCTD8 Gene

Variant ID Type Subtype PubMed ID
dgv117e203 CNV loss 21179565
dgv1479e212 CNV loss 25503493
esv1503360 CNV insertion 17803354
esv2157507 CNV deletion 18987734
esv23034 CNV loss 19812545
esv2467772 CNV deletion 19546169
esv2518487 CNV deletion 19546169
esv2665137 CNV deletion 23128226
esv2668101 CNV deletion 23128226
esv2676713 CNV deletion 23128226
esv2727505 CNV deletion 23290073
esv2727506 CNV deletion 23290073
esv2763358 CNV loss 21179565
esv28915 CNV loss 19812545
esv3304943 CNV mobile element insertion 20981092
esv3321960 CNV insertion 20981092
esv3340656 CNV insertion 20981092
esv3381891 CNV insertion 20981092
esv3433049 CNV insertion 20981092
esv3563794 CNV deletion 23714750
esv3569412 CNV loss 25503493
esv3600391 CNV loss 21293372
esv3600392 CNV loss 21293372
esv4811 CNV loss 18987735
nsv1002150 CNV gain 25217958
nsv1009916 CNV loss 25217958
nsv1133581 CNV deletion 24896259
nsv1135938 CNV deletion 24896259
nsv1141457 CNV duplication 24896259
nsv292914 CNV deletion 16902084
nsv4317 CNV deletion 18451855
nsv4318 CNV insertion 18451855
nsv441874 CNV loss 18776908
nsv474286 CNV novel sequence insertion 20440878
nsv512825 CNV insertion 21212237
nsv514212 CNV loss 21397061
nsv517413 CNV loss 19592680
nsv520405 CNV loss 19592680
nsv526878 CNV gain 19592680
nsv594096 CNV gain 21841781
nsv956922 CNV deletion 24416366

Variation tolerance for KCTD8 Gene

Residual Variation Intolerance Score: 21.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.43; 54.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCTD8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCTD8
Leiden Open Variation Database (LOVD)
KCTD8

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCTD8 Gene

Disorders for KCTD8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KCTD8 Gene - From: COP

Disorder Aliases PubMed IDs
progressive myoclonus epilepsy 3
  • cln14 disease
- elite association - COSMIC cancer census association via MalaCards
Search KCTD8 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KCTD8

genes like me logo Genes that share disorders with KCTD8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCTD8 Gene

Publications for KCTD8 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  2. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  4. Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). (PMID: 22952603) Hart AB … Palmer AA (PloS one 2012) 3
  5. Quantitative analysis of HSP90-client interactions reveals principles of substrate recognition. (PMID: 22939624) Taipale M … Lindquist S (Cell 2012) 3

Products for KCTD8 Gene

Sources for KCTD8 Gene