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KCTD3 Gene(Protein Coding)

Potassium Channel Tetramerization Domain Containing 3

GCID:
GC01P215567
GIFtS:
49
Genes Participants
UDN Logo

Aliases for KCTD3 Gene

Aliases for KCTD3 Gene

  • Potassium Channel Tetramerization Domain Containing 3 2 3 5
  • Potassium Channel Tetramerisation Domain Containing 3 2 3
  • Renal Carcinoma Antigen NY-REN-45 3 4
  • NY-REN-45 Antigen 3
  • NY-REN-45 3

External Ids for KCTD3 Gene

Previous GeneCards Identifiers for KCTD3 Gene

  • GC01P212357
  • GC01P212797
  • GC01P212129
  • GC01P213807
  • GC01P215740
  • GC01P186414

Summaries for KCTD3 Gene

Entrez Gene Summary for KCTD3 Gene

  • This gene encodes a member of the potassium channel tetramerization-domain containing (KCTD) protein family. Members of this protein family regulate the biophysical characteristics of ion channels. In mouse, this protein interacts with hyperpolarization-activated cyclic nucleotide-gated channel complex 3 and enhances its cell surface expression and current density. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

GeneCards Summary for KCTD3 Gene

KCTD3 (Potassium Channel Tetramerization Domain Containing 3) is a Protein Coding gene. Diseases associated with KCTD3 include Tic Disorder and Autism Spectrum Disorder. 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 KCTD5.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCTD3 Gene

Genomics for KCTD3 Gene

Products:

  1. Regulatory Element

Regulatory Elements for KCTD3 Gene

Enhancers for KCTD3 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 KCTD3 on UCSC Golden Path with GeneCards custom track

Promoters for KCTD3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KCTD3 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the KCTD3 gene promoter:

Genomic Location for KCTD3 Gene

Chromosome:
1
Start:
215,567,185 bp from pter
End:
215,621,807 bp from pter
Size:
54,623 bases
Orientation:
Plus strand

Genomic View for KCTD3 Gene

Genes around KCTD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCTD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCTD3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for KCTD3 Gene

Proteins for KCTD3 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for KCTD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y597-KCTD3_HUMAN
    Recommended name:
    BTB/POZ domain-containing protein KCTD3
    Protein Accession:
    Q9Y597
    Secondary Accessions:
    • A0AV15
    • D3DTA6
    • Q49AG7
    • Q504Q9
    • Q6PJN6
    • Q8ND58
    • Q8NDJ0
    • Q8WX16

    Protein attributes for KCTD3 Gene

    Size:
    815 amino acids
    Molecular mass:
    88984 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Reacts with sera from 5-25 per cent of cancer patients but not with sera from normal donors. Seventy per cent of renal cancer patients have antibodies against one or a panel of these antigens.
    SequenceCaution:
    • Sequence=AAH13868.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for KCTD3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCTD3 Gene

Proteomics data for KCTD3 Gene at MOPED

Protein Expression for KCTD3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for KCTD3 Gene

  • Ubiquitination at Lys 503 and Lys 510
  • Modification sites at PhosphoSitePlus

Other Protein References for KCTD3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCTD3 Gene

Domains & Families for KCTD3 Gene

Protein Domains for KCTD3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for KCTD3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y597

UniProtKB/Swiss-Prot:

KCTD3_HUMAN :
  • Contains 1 BTB (POZ) domain.
  • Belongs to the KCTD3 family.
  • Contains 8 WD repeats.
Domain:
  • Contains 1 BTB (POZ) domain.
Family:
  • Belongs to the KCTD3 family.
Similarity:
  • Contains 8 WD repeats.
genes like me logo Genes that share domains with KCTD3: view

No data available for Gene Families for KCTD3 Gene

Function for KCTD3 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Phenotypes for KCTD3 Gene

GenomeRNAi human phenotypes for KCTD3:
genes like me logo Genes that share phenotypes with KCTD3: view

Animal Model Products

miRNA for KCTD3 Gene

miRTarBase miRNAs that target KCTD3

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KCTD3 Gene

Localization for KCTD3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCTD3 Gene COMPARTMENTS Subcellular localization image for KCTD3 gene
Compartment Confidence
cytosol 3
endoplasmic reticulum 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for KCTD3 Gene

Pathways & Interactions for KCTD3 Gene

genes like me logo Genes that share pathways with KCTD3: view

Gene Ontology (GO) - Biological Process for KCTD3 Gene

None

No data available for SIGNOR curated interactions for KCTD3 Gene

Drugs & Compounds for KCTD3 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for KCTD3 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for KCTD3 Gene

(5) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(227) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCTD3 Gene

Potassium channel tetramerisation domain containing 3:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCTD3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ·
SP1: - -
SP2: - -
SP3: - - - -
SP4: - -
SP5:
SP6:

ExUns: 18c · 18d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for KCTD3 Gene

GeneLoc Exon Structure for
KCTD3
ECgene alternative splicing isoforms for
KCTD3

Expression for KCTD3 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for KCTD3 Gene

mRNA expression in normal human tissues for KCTD3 Gene
mRNA expression by BioGPS for KCTD3 GenemRNA expression by GTEx for KCTD3 Gene

Protein differential expression in normal tissues from HIPED for KCTD3 Gene

This gene is overexpressed in Lung (62.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for KCTD3 Gene



SOURCE GeneReport for Unigene cluster for KCTD3 Gene Hs.335139

mRNA Expression by UniProt/SwissProt for KCTD3 Gene

Q9Y597-KCTD3_HUMAN
Tissue specificity: Broadly expressed in normal tissues.
genes like me logo Genes that share expression patterns with KCTD3: view

Protein tissue co-expression partners for KCTD3 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for KCTD3 Gene

Orthologs for KCTD3 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCTD3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia KCTD3 35
  • 91.38 (n)
  • 96.82 (a)
KCTD3 36
  • 96 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia KCTD3 35
  • 91.66 (n)
  • 97.2 (a)
KCTD3 36
  • 97 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Kctd3 35
  • 83.91 (n)
  • 93.73 (a)
Kctd3 16
Kctd3 36
  • 93 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia KCTD3 35
  • 99.71 (n)
  • 100 (a)
KCTD3 36
  • 100 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Kctd3 35
  • 83.13 (n)
  • 93.73 (a)
oppossum
(Monodelphis domestica)
 Mammalia KCTD3 36
  • 92 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia KCTD3 36
  • 88 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves KCTD3 35
  • 78.18 (n)
  • 86.63 (a)
KCTD3 36
  • 85 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia KCTD3 36
  • 86 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia kctd3 35
  • 74.12 (n)
  • 83.59 (a)
zebrafish
(Danio rerio)
 Actinopterygii kctd3 35
  • 68.58 (n)
  • 76.78 (a)
kctd3 36
  • 74 (a)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP004087 35
  • 60.2 (n)
  • 68.11 (a)
fruit fly
(Drosophila melanogaster)
 Insecta CG9467 35
  • 55.54 (n)
  • 60.34 (a)
CG9467 36
  • 51 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea T23B12.6 35
  • 55.33 (n)
  • 51.78 (a)
T23B12.6 36
  • 45 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 36
  • 65 (a)
 OneToMany
Species with no ortholog for KCTD3:
  • A. gosspyii yeast (Ashbya 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)
  • 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 KCTD3 Gene

ENSEMBL:
Gene Tree for KCTD3 (if available)
TreeFam:
Gene Tree for KCTD3 (if available)

Paralogs for KCTD3 Gene

Paralogs for KCTD3 Gene

(3) SIMAP similar genes for KCTD3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with KCTD3: view

Variants for KCTD3 Gene

Sequence variations from dbSNP and Humsavar for KCTD3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_027156 -
rs14137 -- 215,620,492(-) GATGA(C/T)GCCAG reference, synonymous-codon
rs908480 -- 215,590,774(+) TTTGT(C/T)TGCTA intron-variant
rs1074255 -- 215,590,080(-) attag(C/G)atgtg intron-variant
rs1342802 -- 215,606,876(+) TTGAC(A/G)TAATT intron-variant

Variation tolerance for KCTD3 Gene

Residual Variation Intolerance Score: 8.51% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.02; 84.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCTD3 Gene

Human Gene Mutation Database (HGMD)
KCTD3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for KCTD3 Gene

Disorders for KCTD3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for KCTD3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
tic disorder
autism spectrum disorder
  • pervasive development disorder
- elite association - COSMIC cancer census association via MalaCards
Search KCTD3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KCTD3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCTD3
genes like me logo Genes that share disorders with KCTD3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCTD3 Gene

Publications for KCTD3 Gene

  1. Antigens recognized by autologous antibody in patients with renal- cell carcinoma. (PMID: 10508479) Scanlan M.J. … Old L.J. (Int. J. Cancer 1999) 2 3 4 67
  2. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. (PMID: 25558065) Alazami A.M. … Alkuraya F.S. (Cell Rep 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 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. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) KA+rlA+ K. … GAPrlich D. (Elife 2015) 3

Products for KCTD3 Gene

Sources for KCTD3 Gene

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