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Aliases for KCTD12 Gene

Aliases for KCTD12 Gene

  • Potassium Channel Tetramerization Domain Containing 12 2 3
  • Predominantly Fetal Expressed T1 Domain 2 3 4
  • C13orf2 3 4 6
  • PFET1 3 4 6
  • Potassium Channel Tetramerisation Domain Containing 12 2 3
  • KIAA1778 4 6
  • PFETIN 3 4
  • BTB/POZ Domain-Containing Protein KCTD12 3
  • Chromosome 13 Open Reading Frame 2 2

External Ids for KCTD12 Gene

Previous Symbols for KCTD12 Gene

  • C13orf2

Summaries for KCTD12 Gene

GeneCards Summary for KCTD12 Gene

KCTD12 (Potassium Channel Tetramerization Domain Containing 12) is a Protein Coding gene. Among its related pathways are Activation of cAMP-Dependent PKA and Activation of cAMP-Dependent PKA. 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

Genomic Location for KCTD12 Gene

Start:
76,880,166 bp from pter
End:
76,886,405 bp from pter
Size:
6,240 bases
Orientation:
Minus strand

Genomic View for KCTD12 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KCTD12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCTD12 Gene

Regulatory Elements for KCTD12 Gene

Proteins for KCTD12 Gene

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

    Protein Symbol:
    Q96CX2-KCD12_HUMAN
    Recommended name:
    BTB/POZ domain-containing protein KCTD12
    Protein Accession:
    Q96CX2
    Secondary Accessions:

    Protein attributes for KCTD12 Gene

    Size:
    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 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).

Gene Ontology (GO) - Molecular Function for KCTD12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0044822 poly(A) RNA binding IDA 22681889
genes like me logo Genes that share ontologies with KCTD12: view

Phenotypes for KCTD12 Gene

GenomeRNAi human phenotypes for KCTD12:
genes like me logo Genes that share phenotypes with KCTD12: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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

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

Gene Ontology (GO) - Cellular Components for KCTD12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030054 cell junction IEA --
GO:0042734 presynaptic membrane IEA --
GO:0043235 receptor complex IEA --
GO:0045211 postsynaptic membrane IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with KCTD12: view

Pathways for KCTD12 Gene

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

Interacting Proteins for KCTD12 Gene

Gene Ontology (GO) - Biological Process for KCTD12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008277 regulation of G-protein coupled receptor protein signaling pathway IEA --
GO:0051260 protein homooligomerization IEA --
genes like me logo Genes that share ontologies with KCTD12: view

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
KCTD12
ECgene alternative splicing isoforms for
KCTD12

Expression for KCTD12 Gene

mRNA expression in normal human tissues for KCTD12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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

Q96CX2-KCD12_HUMAN
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 expressions with KCTD12: view

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
chimpanzee
(Pan troglodytes)
Mammalia KCTD12 35
  • 99.79 (n)
  • 99.69 (a)
KCTD12 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCTD12 35
  • 94.86 (n)
  • 97.53 (a)
KCTD12 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCTD12 35
  • 96 (n)
  • 98.77 (a)
KCTD12 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kctd12 35
  • 94.46 (n)
  • 99.08 (a)
Kctd12 16
KCTD12 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCTD12 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCTD12 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kctd12 35
  • 94.26 (n)
  • 98.77 (a)
chicken
(Gallus gallus)
Aves KCTD12 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCTD12 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kctd12 35
  • 67.1 (n)
  • 79.29 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
kctd12.2 35
  • 69.07 (n)
  • 74.62 (a)
kctd12.2 36
  • 72 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG10830 36
  • 49 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F32B4.5 36
  • 19 (a)
OneToMany
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

ENSEMBL:
Gene Tree for KCTD12 (if available)
TreeFam:
Gene Tree for KCTD12 (if available)

Paralogs for KCTD12 Gene

Paralogs for KCTD12 Gene

Selected 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 MAF
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

Relevant External Links for KCTD12 Gene

HapMap Linkage Disequilibrium report
KCTD12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCTD12 Gene

Disorders for KCTD12 Gene

(1) University of Copenhagen DISEASES for KCTD12 Gene

Relevant External Links for KCTD12

Genetic Association Database (GAD)
KCTD12
Human Genome Epidemiology (HuGE) Navigator
KCTD12
genes like me logo Genes that share disorders with KCTD12: view

No data available for UniProtKB/Swiss-Prot 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
  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. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Analysis of novel risk loci for type 2 diabetes in a general French population: the D.E.S.I.R. study. (PMID: 18210030) Cauchi S. … Froguel P. (J. Mol. Med. 2008) 3 48
  5. Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk. (PMID: 19336475) Drenos F. … Hingorani A.D. (Hum. Mol. Genet. 2009) 3 48

Products for KCTD12 Gene

Sources for KCTD12 Gene

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