Aliases for KCTD2 Gene

Aliases for KCTD2 Gene

  • Potassium Channel Tetramerization Domain Containing 2 2 3 5
  • Potassium Channel Tetramerization Domain-Containing Protein 2 3 4
  • Potassium Channel Tetramerisation Domain Containing 2 2 3
  • BTB/POZ Domain-Containing Protein KCTD2 3 4
  • KIAA0176 2 4
  • KCTD2 5

External Ids for KCTD2 Gene

Previous GeneCards Identifiers for KCTD2 Gene

  • GC17P073508
  • GC17P073640
  • GC17P070554
  • GC17P073043
  • GC17P068453
  • GC17P073029
  • GC17P073034
  • GC17P073051

Summaries for KCTD2 Gene

GeneCards Summary for KCTD2 Gene

KCTD2 (Potassium Channel Tetramerization Domain Containing 2) is a Protein Coding gene. Diseases associated with KCTD2 include Dystonia 11, Myoclonic. Among its related pathways are Activation of cAMP-Dependent PKA and Hepatic ABC Transporters. An important paralog of this gene is KCTD17.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCTD2 Gene

Genomics for KCTD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KCTD2 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 KCTD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCTD2

Top Transcription factor binding sites by QIAGEN in the KCTD2 gene promoter:
  • AREB6
  • ATF6
  • GATA-2
  • Ik-3
  • LUN-1
  • Pbx1a
  • PPAR-alpha
  • RORalpha1
  • STAT5A

Genomic Locations for KCTD2 Gene

Latest Assembly
chr17:75,032,571-75,065,889
(GRCh38/hg38)
Size:
33,319 bases
Orientation:
Plus strand

Previous Assembly
chr17:73,028,666-73,061,981
(GRCh37/hg19 by Entrez Gene)
Size:
33,316 bases
Orientation:
Plus strand

chr17:73,028,670-73,061,984
(GRCh37/hg19 by Ensembl)
Size:
33,315 bases
Orientation:
Plus strand

Genomic View for KCTD2 Gene

Genes around KCTD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCTD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCTD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCTD2 Gene

Proteins for KCTD2 Gene

  • Protein details for KCTD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14681-KCTD2_HUMAN
    Recommended name:
    BTB/POZ domain-containing protein KCTD2
    Protein Accession:
    Q14681

    Protein attributes for KCTD2 Gene

    Size:
    263 amino acids
    Molecular mass:
    28527 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA11493.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

neXtProt entry for KCTD2 Gene

Post-translational modifications for KCTD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCTD2 Gene

No data available for DME Specific Peptides for KCTD2 Gene

Domains & Families for KCTD2 Gene

Gene Families for KCTD2 Gene

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

Protein Domains for KCTD2 Gene

InterPro:
Blocks:
  • BTB/POZ domain
ProtoNet:

Suggested Antigen Peptide Sequences for KCTD2 Gene

GenScript: Design optimal peptide antigens:
  • Potassium channel tetramerization domain-containing protein 2 (KCTD2_HUMAN)
  • KCTD2 protein (Q8IYY2_HUMAN)
genes like me logo Genes that share domains with KCTD2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KCTD2 Gene

Function for KCTD2 Gene

Phenotypes From GWAS Catalog for KCTD2 Gene

Gene Ontology (GO) - Molecular Function for KCTD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0044877 protein-containing complex binding IDA 23209302
GO:0097602 cullin family protein binding IBA 21873635
genes like me logo Genes that share ontologies with KCTD2: view
genes like me logo Genes that share phenotypes with KCTD2: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCTD2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KCTD2 Gene

Localization for KCTD2 Gene

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 KCTD2 gene
Compartment Confidence
cytoskeleton 2
nucleus 2
plasma membrane 1
mitochondrion 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for KCTD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0031463 Cul3-RING ubiquitin ligase complex IBA 21873635
genes like me logo Genes that share ontologies with KCTD2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KCTD2 Gene

Pathways & Interactions for KCTD2 Gene

PathCards logo

SuperPathways for KCTD2 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 KCTD2: view

Pathways by source for KCTD2 Gene

13 Qiagen pathways for KCTD2 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 KCTD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IBA 21873635
GO:0051260 protein homooligomerization IEA --
genes like me logo Genes that share ontologies with KCTD2: view

No data available for SIGNOR curated interactions for KCTD2 Gene

Drugs & Compounds for KCTD2 Gene

No Compound Related Data Available

Transcripts for KCTD2 Gene

mRNA/cDNA for KCTD2 Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
9 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 KCTD2

Alternative Splicing Database (ASD) splice patterns (SP) for KCTD2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7
SP1:
SP2:

Relevant External Links for KCTD2 Gene

GeneLoc Exon Structure for
KCTD2

Expression for KCTD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KCTD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCTD2 Gene

This gene is overexpressed in Brain - Cerebellum (x4.6) and Brain - Cerebellar Hemisphere (x4.3).

Protein differential expression in normal tissues from HIPED for KCTD2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (48.6) and Testis (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KCTD2 Gene



Protein tissue co-expression partners for KCTD2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KCTD2

SOURCE GeneReport for Unigene cluster for KCTD2 Gene:

Hs.514468

Evidence on tissue expression from TISSUES for KCTD2 Gene

  • Nervous system(4.3)
  • Bone marrow(4.2)
genes like me logo Genes that share expression patterns with KCTD2: 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 KCTD2 Gene

Orthologs for KCTD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCTD2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KCTD2 30 31
  • 99.62 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KCTD2 31
  • 98 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia KCTD2 30 31
  • 92.37 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KCTD2 30 31
  • 91.63 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Kctd2 30 17 31
  • 90.11 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KCTD2 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KCTD2 30 31
  • 83.85 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KCTD2 31
  • 87 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kctd2 30
  • 75.15 (n)
Zebrafish
(Danio rerio)
Actinopterygii kctd2 30 31
  • 78.07 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta inc 31
  • 57 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea tag-303 30
  • 57.69 (n)
inso-1 31
  • 43 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8310 31
  • 65 (a)
OneToMany
Species where no ortholog for KCTD2 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)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • 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 KCTD2 Gene

ENSEMBL:
Gene Tree for KCTD2 (if available)
TreeFam:
Gene Tree for KCTD2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KCTD2: view image

Paralogs for KCTD2 Gene

Paralogs for KCTD2 Gene

(2) SIMAP similar genes for KCTD2 Gene using alignment to 4 proteins:

  • KCTD2_HUMAN
  • H0Y3B9_HUMAN
  • J3QSC8_HUMAN
  • Q8IYY2_HUMAN
genes like me logo Genes that share paralogs with KCTD2: view

Variants for KCTD2 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KCTD2 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 KCTD2 Gene

Variant ID Type Subtype PubMed ID
esv1720628 CNV deletion 17803354
esv2566082 CNV deletion 19546169
esv2716235 CNV deletion 23290073
esv3554781 CNV deletion 23714750
esv3641253 CNV gain 21293372
esv3641254 CNV loss 21293372
esv3893044 CNV loss 25118596
nsv112456 CNV deletion 16902084

Variation tolerance for KCTD2 Gene

Residual Variation Intolerance Score: 25.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.27; 85.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCTD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCTD2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCTD2 Gene

Disorders for KCTD2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KCTD2 Gene - From: COP

Disorder Aliases PubMed IDs
dystonia 11, myoclonic
  • dyt11
- elite association - COSMIC cancer census association via MalaCards
Search KCTD2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KCTD2

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with KCTD2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCTD2 Gene

Publications for KCTD2 Gene

  1. Whole genome association scan for genetic polymorphisms influencing information processing speed. (PMID: 21130836) Luciano M … Deary IJ (Biological psychology 2011) 3 41
  2. Radiation hybrid map, physical map, and low-pass genomic sequence of the canine prcd region on CFA9 and comparative mapping with the syntenic region on human chromosome 17. (PMID: 12620391) Sidjanin DJ … Aguirre G (Genomics 2003) 2 3
  3. Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 8724849) Nagase T … Nomura N (DNA research : an international journal for rapid publication of reports on genes and genomes 1996) 3 4
  4. TRIM6 promotes colorectal cancer cells proliferation and response to thiostrepton by TIS21/FoxM1. (PMID: 31992359) Zheng S … Shen Z (Journal of experimental & clinical cancer research : CR 2020) 3
  5. Identification of a USP9X Substrate NFX1-123 by SILAC-Based Quantitative Proteomics. (PMID: 31059266) Chen X … Zhou H (Journal of proteome research 2019) 3

Products for KCTD2 Gene

Sources for KCTD2 Gene