Aliases for KCTD9 Gene

Aliases for KCTD9 Gene

  • Potassium Channel Tetramerization Domain Containing 9 2 3 5
  • Potassium Channel Tetramerisation Domain Containing 9 2 3
  • BTB/POZ Domain-Containing Protein KCTD9 3 4
  • BTBD27 2 3
  • FLJ20038 2
  • KCTD9 5

External Ids for KCTD9 Gene

Previous GeneCards Identifiers for KCTD9 Gene

  • GC08M025307
  • GC08M025341
  • GC08M023830
  • GC08M025285

Summaries for KCTD9 Gene

GeneCards Summary for KCTD9 Gene

KCTD9 (Potassium Channel Tetramerization Domain Containing 9) is a Protein Coding gene. Diseases associated with KCTD9 include Hypogonadotropic Hypogonadism 12 With Or Without Anosmia. Among its related pathways are Sweet Taste Signaling and Hepatic ABC Transporters. An important paralog of this gene is KCTD2.

UniProtKB/Swiss-Prot Summary for KCTD9 Gene

  • Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex, which mediates the ubiquitination of target proteins, leading to their degradation by the proteasome.

Additional gene information for KCTD9 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCTD9 Gene

Genomics for KCTD9 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KCTD9 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
GH08J025453 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 610.7 +1.0 1024 7.1 SP1 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 TFE3 LEF1 IKZF1 NFKBIZ KCTD9 CDCA2 lnc-GNRH1-3 GNRH1 NEFM ENSG00000253476 RF00017-6897
GH08J025183 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.6 +271.9 271933 6.7 CEBPG GATAD2A CTCF PRDM10 ZNF629 TFE3 SOX13 ZNF692 RCOR2 PRDM1 DOCK5 CDCA2 KCTD9 ENSG00000287185 RF00994-1057 GNRH1
GH08J025392 Enhancer 1 Ensembl ENCODE dbSUPER 19.1 +65.4 65375 1.4 GATAD2A SOX13 RCOR2 CEBPA TCF7 FOXA2 MAFF TEAD1 SAP130 FOSL2 KCTD9 GNRH1 CDCA2 piR-46847-263 lnc-CDCA2-4 DOCK5 RF00017-6897
GH08J025478 Enhancer 0.9 Ensembl ENCODE 21.6 -22.2 -22153 5 ZNF629 ZIC2 POLR2A CEBPA CEBPB ZNF639 FOXA2 OSR2 FOS ZBTB17 KCTD9 CDCA2 lnc-DOCK5-2 lnc-DOCK5-3 RF00017-6897 EBF2
GH08J025239 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 10.1 +219.0 218970 1.3 GATAD2A ATF7 TFE3 ZSCAN4 RXRB GABPA CEBPA FOXK2 SOX13 CEBPB DOCK5 CDCA2 KCTD9 RF00994-1057 ENSG00000284858 GNRH1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCTD9 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCTD9

Top Transcription factor binding sites by QIAGEN in the KCTD9 gene promoter:
  • C/EBPalpha
  • FOXO3
  • FOXO3a
  • FOXO3b
  • NF-kappaB
  • Pax-4a
  • Sp1
  • TBP

Genomic Locations for KCTD9 Gene

Genomic Locations for KCTD9 Gene
chr8:25,424,357-25,458,476
(GRCh38/hg38)
Size:
34,120 bases
Orientation:
Minus strand
chr8:25,285,363-25,315,992
(GRCh37/hg19)
Size:
30,630 bases
Orientation:
Minus strand

Genomic View for KCTD9 Gene

Genes around KCTD9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCTD9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCTD9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCTD9 Gene

Proteins for KCTD9 Gene

  • Protein details for KCTD9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7L273-KCTD9_HUMAN
    Recommended name:
    BTB/POZ domain-containing protein KCTD9
    Protein Accession:
    Q7L273
    Secondary Accessions:
    • Q6NUM8
    • Q9NXV4

    Protein attributes for KCTD9 Gene

    Size:
    389 amino acids
    Molecular mass:
    42567 Da
    Quaternary structure:
    • Forms pentamers. Component of a complex composed of 5 subunits of KCTD9 and 5 CUL3.
    SequenceCaution:
    • Sequence=BAA90904.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KCTD9 Gene

neXtProt entry for KCTD9 Gene

Post-translational modifications for KCTD9 Gene

  • Ubiquitination at Lys371
  • Modification sites at PhosphoSitePlus

Other Protein References for KCTD9 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCTD9 Gene

Domains & Families for KCTD9 Gene

Gene Families for KCTD9 Gene

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

Protein Domains for KCTD9 Gene

InterPro:
Blocks:
  • BTB/POZ domain
  • Pentapeptide repeat
ProtoNet:

Suggested Antigen Peptide Sequences for KCTD9 Gene

GenScript: Design optimal peptide antigens:
  • BTB/POZ domain-containing protein KCTD9 (KCTD9_HUMAN)
genes like me logo Genes that share domains with KCTD9: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KCTD9 Gene

Function for KCTD9 Gene

Molecular function for KCTD9 Gene

UniProtKB/Swiss-Prot Function:
Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex, which mediates the ubiquitination of target proteins, leading to their degradation by the proteasome.

Phenotypes From GWAS Catalog for KCTD9 Gene

Gene Ontology (GO) - Molecular Function for KCTD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21145461
GO:0042802 identical protein binding IPI 21516116
GO:0043621 protein self-association IDA 26334369
GO:0097602 cullin family protein binding IDA 26334369
genes like me logo Genes that share ontologies with KCTD9: view
genes like me logo Genes that share phenotypes with KCTD9: view

Animal Model Products

CRISPR Products

miRNA for KCTD9 Gene

miRTarBase miRNAs that target KCTD9

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCTD9

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KCTD9 Gene

Localization for KCTD9 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 KCTD9 gene
Compartment Confidence
nucleus 3
cytoskeleton 2
mitochondrion 2
cytosol 2
plasma membrane 1
extracellular 0
peroxisome 0
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (2)
  • Intermediate filaments (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for KCTD9 Gene

Pathways & Interactions for KCTD9 Gene

PathCards logo

SuperPathways for KCTD9 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 KCTD9: view

Pathways by source for KCTD9 Gene

13 Qiagen pathways for KCTD9 Gene
  • Activation of cAMP-Dependent PKA
  • Aldosterone Signaling in Epithelial Cells
  • Bitter Taste Signaling
  • cAMP Pathway
  • Cellular Effects of Sildenafil

UniProtKB/Swiss-Prot Q7L273-KCTD9_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for KCTD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
GO:0035556 intracellular signal transduction IEA --
GO:0051260 protein homooligomerization IEA --
genes like me logo Genes that share ontologies with KCTD9: view

No data available for SIGNOR curated interactions for KCTD9 Gene

Drugs & Compounds for KCTD9 Gene

No Compound Related Data Available

Transcripts for KCTD9 Gene

mRNA/cDNA for KCTD9 Gene

1 REFSEQ mRNAs :
11 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 KCTD9

Alternative Splicing Database (ASD) splice patterns (SP) for KCTD9 Gene

No ASD Table

Relevant External Links for KCTD9 Gene

GeneLoc Exon Structure for
KCTD9

Expression for KCTD9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KCTD9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KCTD9 Gene

This gene is overexpressed in Testis (36.4) and Seminal vesicle (31.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KCTD9 Gene



Protein tissue co-expression partners for KCTD9 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KCTD9

SOURCE GeneReport for Unigene cluster for KCTD9 Gene:

Hs.72071

Evidence on tissue expression from TISSUES for KCTD9 Gene

  • Intestine(4.2)
genes like me logo Genes that share expression patterns with KCTD9: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KCTD9 Gene

Orthologs for KCTD9 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for KCTD9 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KCTD9 30 31
  • 99.91 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KCTD9 31
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia KCTD9 30 31
  • 96.25 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KCTD9 31
  • 93 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KCTD9 31
  • 92 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Kctd9 30 17 31
  • 91.43 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Kctd9 30
  • 91.43 (n)
Chicken
(Gallus gallus)
Aves KCTD9 30 31
  • 82.43 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KCTD9 31
  • 89 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kctd9 30
  • 73.26 (n)
Str.3830 30
Zebrafish
(Danio rerio)
Actinopterygii KCTD9 (2 of 2) 31
  • 87 (a)
OneToMany
kctd9 31
  • 85 (a)
OneToMany
zgc:113115 30
  • 74.04 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG14647 30 31
  • 56.05 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000478 30
  • 51.64 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons FIP2 30
  • 47.24 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10153 31
  • 56 (a)
OneToOne
Species where no ortholog for KCTD9 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)
  • 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)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for KCTD9 Gene

ENSEMBL:
Gene Tree for KCTD9 (if available)
TreeFam:
Gene Tree for KCTD9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KCTD9: view image

Paralogs for KCTD9 Gene

Paralogs for KCTD9 Gene

(1) SIMAP similar genes for KCTD9 Gene using alignment to 3 proteins:

  • KCTD9_HUMAN
  • K7ENB5_HUMAN
  • K7EQN1_HUMAN
genes like me logo Genes that share paralogs with KCTD9: view

Variants for KCTD9 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCTD9 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
908880 Uncertain Significance: Hypogonadotropic hypogonadism 12 with or without anosmia 25,424,540(-) C/T FIVE_PRIME_UTR_VARIANT
909738 Uncertain Significance: Hypogonadotropic hypogonadism 12 with or without anosmia 25,424,658(-) G/A FIVE_PRIME_UTR_VARIANT
909739 Uncertain Significance: Hypogonadotropic hypogonadism 12 with or without anosmia 25,424,966(-) C/T FIVE_PRIME_UTR_VARIANT
rs71551806 Likely Benign: Isolated GnRH Deficiency. Uncertain Significance: Isolated GnRH Deficiency 25,424,356(-) C/CTCT/C FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for KCTD9 Gene

Structural Variations from Database of Genomic Variants (DGV) for KCTD9 Gene

Variant ID Type Subtype PubMed ID
dgv7148n100 CNV gain 25217958
esv2759606 CNV loss 17122850
esv3616666 OTHER inversion 21293372
nsv1031153 CNV gain 25217958
nsv1076073 CNV deletion 25765185
nsv1112960 CNV deletion 24896259
nsv1126851 CNV deletion 24896259
nsv6125 CNV insertion 18451855
nsv967571 CNV duplication 23825009
nsv981920 CNV duplication 23825009

Variation tolerance for KCTD9 Gene

Residual Variation Intolerance Score: 26.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.44; 9.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCTD9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCTD9

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCTD9 Gene

Disorders for KCTD9 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KCTD9 Gene - From: GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search KCTD9 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with KCTD9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCTD9 Gene

Publications for KCTD9 Gene

  1. Structural Insights into KCTD Protein Assembly and Cullin3 Recognition. (PMID: 26334369) Ji AX … Privé GG (Journal of molecular biology 2016) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Gene expression profiling in human fetal liver and identification of tissue- and developmental-stage-specific genes through compiled expression profiles and efficient cloning of full-length cDNAs. (PMID: 11483580) Yu Y … He F (Genome research 2001) 2 3
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for KCTD9 Gene

Sources for KCTD9 Gene