Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KCTD12 Gene

Aliases for KCTD12 Gene

  • Potassium Channel Tetramerization Domain Containing 12 2 3 5
  • Predominantly Fetal Expressed T1 Domain 2 3 4
  • Potassium Channel Tetramerisation Domain Containing 12 2 3
  • C13orf2 3 4
  • PFETIN 3 4
  • PFET1 3 4
  • Chromosome 13 Open Reading Frame 2 2
  • Testicular Tissue Protein Li 100 3
  • KIAA1778 4

External Ids for KCTD12 Gene

Previous HGNC Symbols for KCTD12 Gene

  • C13orf2

Previous GeneCards Identifiers for KCTD12 Gene

  • GC13M075255
  • GC13M075252
  • GC13M076352
  • GC13M077454
  • GC13M058151

Summaries for KCTD12 Gene

GeneCards Summary for KCTD12 Gene

KCTD12 (Potassium Channel Tetramerization Domain Containing 12) is a Protein Coding gene. Diseases associated with KCTD12 include Gastrointestinal Stromal Tumor. Among its related pathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Activation of cAMP-Dependent PKA. GO annotations related to this gene include poly(A) RNA binding. An important paralog of this gene is KCTD11.

UniProtKB/Swiss-Prot for KCTD12 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).

Gene Wiki entry for KCTD12 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCTD12 Gene

Genomics for KCTD12 Gene

Regulatory Elements for KCTD12 Gene

Enhancers for KCTD12 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 KCTD12 on UCSC Golden Path with GeneCards custom track

Promoters for KCTD12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KCTD12 on UCSC Golden Path with GeneCards custom track

Genomic Location for KCTD12 Gene

76,880,166 bp from pter
76,886,405 bp from pter
6,240 bases
Minus strand

Genomic View for KCTD12 Gene

Genes around KCTD12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCTD12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCTD12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCTD12 Gene

Proteins for KCTD12 Gene

  • Protein details for KCTD12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    BTB/POZ domain-containing protein KCTD12
    Protein Accession:

    Protein attributes for KCTD12 Gene

    325 amino acids
    Molecular mass:
    35701 Da
    Quaternary structure:
    • Interacts as a tetramer with GABRB1 and GABRB2.

neXtProt entry for KCTD12 Gene

Proteomics data for KCTD12 Gene at MOPED

Post-translational modifications for KCTD12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCTD12 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCTD12 Gene

Domains & Families for KCTD12 Gene

Protein Domains for KCTD12 Gene

Suggested Antigen Peptide Sequences for KCTD12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KCTD12: view

No data available for Gene Families and UniProtKB/Swiss-Prot for KCTD12 Gene

Function for KCTD12 Gene

Molecular function for KCTD12 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).
genes like me logo Genes that share phenotypes with KCTD12: view

Animal Models for KCTD12 Gene

MGI Knock Outs for KCTD12:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KCTD12 Gene

Localization for KCTD12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCTD12 Gene

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

Subcellular locations from

Jensen Localization Image for KCTD12 Gene COMPARTMENTS Subcellular localization image for KCTD12 gene
Compartment Confidence
extracellular 5
nucleus 3
plasma membrane 3
cytosol 2

Gene Ontology (GO) - Cellular Components for KCTD12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045211 postsynaptic membrane IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with KCTD12: view

Pathways & Interactions for KCTD12 Gene

genes like me logo Genes that share pathways with KCTD12: view

Pathways by source for KCTD12 Gene

Interacting Proteins for KCTD12 Gene

Gene Ontology (GO) - Biological Process for KCTD12 Gene


No data available for SIGNOR curated interactions for KCTD12 Gene

Drugs & Compounds for KCTD12 Gene

No Compound Related Data Available

Transcripts for KCTD12 Gene

mRNA/cDNA for KCTD12 Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(129) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCTD12 Gene

Potassium channel tetramerisation domain containing 12:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KCTD12 Gene

No ASD Table

Relevant External Links for KCTD12 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KCTD12 Gene

mRNA expression in normal human tissues for KCTD12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KCTD12 Gene

This gene is overexpressed in Bone marrow stromal cell (6.4) and Fetal Brain (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for KCTD12 Gene

SOURCE GeneReport for Unigene cluster for KCTD12 Gene Hs.644125

mRNA Expression by UniProt/SwissProt for KCTD12 Gene

Tissue specificity: Present in a variety of fetal organs, with highest expression levels in the cochlea and brain and, in stark contrast, is detected only at extremely low levels in adult organs, such as brain and lung.
genes like me logo Genes that share expression patterns with KCTD12: view

Protein tissue co-expression partners for KCTD12 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for KCTD12 Gene

Orthologs for KCTD12 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCTD12 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia KCTD12 35
  • 94.86 (n)
  • 97.53 (a)
KCTD12 36
  • 98 (a)
(Canis familiaris)
Mammalia KCTD12 35
  • 96 (n)
  • 98.77 (a)
KCTD12 36
  • 98 (a)
(Mus musculus)
Mammalia Kctd12 35
  • 94.46 (n)
  • 99.08 (a)
Kctd12 16
KCTD12 36
  • 99 (a)
(Pan troglodytes)
Mammalia KCTD12 35
  • 99.79 (n)
  • 99.69 (a)
KCTD12 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Kctd12 35
  • 94.26 (n)
  • 98.77 (a)
(Monodelphis domestica)
Mammalia KCTD12 36
  • 95 (a)
(Ornithorhynchus anatinus)
Mammalia KCTD12 36
  • 83 (a)
(Gallus gallus)
Aves KCTD12 36
  • 68 (a)
(Anolis carolinensis)
Reptilia KCTD12 36
  • 68 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia kctd12 35
  • 67.1 (n)
  • 79.29 (a)
(Danio rerio)
Actinopterygii -- 35
kctd12.2 35
  • 69.07 (n)
  • 74.62 (a)
kctd12.2 36
  • 72 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10830 36
  • 49 (a)
(Caenorhabditis elegans)
Secernentea F32B4.5 36
  • 19 (a)
Species with no ortholog for KCTD12:
  • 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)
  • 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 squirt (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 KCTD12 Gene

Gene Tree for KCTD12 (if available)
Gene Tree for KCTD12 (if available)

Paralogs for KCTD12 Gene

Paralogs for KCTD12 Gene

(2) SIMAP similar genes for KCTD12 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KCTD12: view

Variants for KCTD12 Gene

Sequence variations from dbSNP and Humsavar for KCTD12 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs6732 -- 76,881,991(-) AATTA(A/T)CACTG utr-variant-3-prime
rs6835 -- 76,880,346(-) GAATT(C/T)CTTCA utr-variant-3-prime
rs7705 -- 76,881,871(-) AAAAA(A/G)GTGTA utr-variant-3-prime
rs9320 -- 76,880,414(+) ATTTT(C/T)TTCTT utr-variant-3-prime
rs13337 -- 76,882,048(+) TTGGA(G/T)GGCTT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for KCTD12 Gene

Variant ID Type Subtype PubMed ID
nsv832651 CNV Gain 17160897
nsv832652 CNV Gain 17160897
esv24441 CNV Loss 19812545

Variation tolerance for KCTD12 Gene

Residual Variation Intolerance Score: 57.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.78; 16.49% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for KCTD12 Gene

Disorders for KCTD12 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KCTD12 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
gastrointestinal stromal tumor
  • paraganglioma and gastric stromal sarcoma
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for KCTD12

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with KCTD12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCTD12 Gene

Publications for KCTD12 Gene

  1. Isolation from cochlea of a novel human intronless gene with predominant fetal expression. (PMID: 15357420) Resendes B.L. … Morton C.C. (J. Assoc. Res. Otolaryngol. 2004) 2 3 4 23 67
  2. Pfetin as a prognostic biomarker of gastrointestinal stromal tumors revealed by proteomics. (PMID: 18347171) Suehara Y. … Hirohashi S. (Clin. Cancer Res. 2008) 3 23
  3. Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD. (PMID: 25158072) Yu D. … Pauls D.L. (Am J Psychiatry 2015) 3
  4. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3
  5. Proteomic Analysis of the EWS-Fli-1 Interactome Reveals the Role of the Lysosome in EWS-Fli-1 Turnover. (PMID: 24999758) Elzi D.J. … Shiio Y. (J. Proteome Res. 2014) 3

Products for KCTD12 Gene

Sources for KCTD12 Gene