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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
  • PFET1 3 4
  • BTB/POZ Domain-Containing Protein KCTD12 3
  • Chromosome 13 Open Reading Frame 2 2
  • Testicular Tissue Protein Li 100 3
  • KIAA1778 4
  • PFETIN 3
  • Pfetin 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 Hepatic ABC Transporters and Activation of cAMP-Dependent PKA. An important paralog of this gene is KCTD8.

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

Additional gene information for KCTD12 Gene

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

Genomics for KCTD12 Gene

GeneHancer (GH) Regulatory Elements for KCTD12 Gene

Promoters and enhancers for KCTD12 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
GH13J076881 Promoter/Enhancer 1.4 Ensembl ENCODE 655.8 +1.5 1534 5.9 ZNF2 RAD21 ZEB1 ZNF335 ZNF121 GLIS2 EGR1 SCRT2 KLF7 BCLAF1 KCTD12 CLN5 ENSG00000278727 ENSG00000284809
GH13J076709 Enhancer 0.7 Ensembl ENCODE 21.1 +175.0 175038 3.5 SP1 JUND ATF3 POLR2A JUN FOS NR2F2 KCTD12 LOC105370266 GC13M076675 LOC105370265
GH13J076722 Enhancer 0.9 FANTOM5 Ensembl ENCODE 11.3 +161.9 161927 3.5 POLR2A JUN FOS GABPA KCTD12 GC13M076675 LOC105370266 LOC105370265
GH13J076792 Enhancer 0.6 Ensembl ENCODE 15.8 +93.2 93216 1.5 RXRA RAD21 KCTD12 LOC105370265 GC13P076773
GH13J076799 Enhancer 0.6 Ensembl ENCODE 11.6 +86.7 86727 0.6 PKNOX1 JUN KCTD12 LOC105370265 GC13P076773
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCTD12 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KCTD12 gene promoter:
  • Pax-5
  • Pbx1a
  • CREB
  • deltaCREB
  • MIF-1
  • AP-4
  • IRF-7A
  • AML1a
  • POU6F1 (c2)

Genomic Locations for KCTD12 Gene

Genomic Locations for KCTD12 Gene
chr13:76,880,166-76,886,405
(GRCh38/hg38)
Size:
6,240 bases
Orientation:
Minus strand
chr13:77,454,304-77,460,540
(GRCh37/hg19)
Size:
6,237 bases
Orientation:
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:
    Q96CX2-KCD12_HUMAN
    Recommended name:
    BTB/POZ domain-containing protein KCTD12
    Protein Accession:
    Q96CX2

    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

Post-translational modifications for KCTD12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCTD12 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Boster Bio Antibodies for KCTD12
  • Santa Cruz Biotechnology (SCBT) Antibodies for KCTD12

No data available for DME Specific Peptides for KCTD12 Gene

Domains & Families for KCTD12 Gene

Gene Families for KCTD12 Gene

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

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 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).

Phenotypes From GWAS Catalog for KCTD12 Gene

Gene Ontology (GO) - Molecular Function for KCTD12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22681889
GO:0005515 protein binding IEA --
GO:0042802 identical protein binding IPI 27152988
genes like me logo Genes that share ontologies with KCTD12: view
genes like me logo Genes that share phenotypes with KCTD12: view

Animal Models for KCTD12 Gene

MGI Knock Outs for KCTD12:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

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 KCTD12 gene
Compartment Confidence
extracellular 5
plasma membrane 3
nucleus 3
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KCTD12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0030054 cell junction IEA --
GO:0042734 presynaptic membrane IEA --
GO:0045202 synapse IEA --
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

GO ID Qualified GO term Evidence PubMed IDs
GO:0051260 protein homooligomerization IEA --
genes like me logo Genes that share ontologies with KCTD12: view

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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for KCTD12 Gene



Protein tissue co-expression partners for KCTD12 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KCTD12 Gene:

KCTD12

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.

Evidence on tissue expression from TISSUES for KCTD12 Gene

  • Liver(4.2)
  • Nervous system(4.2)
  • Intestine(2)
genes like me logo Genes that share expression patterns with KCTD12: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 33
  • 99.79 (n)
OneToOne
mouse
(Mus musculus)
Mammalia KCTD12 34
  • 99 (a)
OneToOne
Kctd12 16 33
  • 94.46 (n)
dog
(Canis familiaris)
Mammalia KCTD12 34 33
  • 96 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCTD12 34
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCTD12 34 33
  • 94.86 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kctd12 33
  • 94.26 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KCTD12 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCTD12 34
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCTD12 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kctd12 33
  • 67.1 (n)
zebrafish
(Danio rerio)
Actinopterygii kctd12.2 34 33
  • 69.07 (n)
OneToMany
-- 33
fruit fly
(Drosophila melanogaster)
Insecta CG10830 34
  • 49 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F32B4.5 34
  • 19 (a)
OneToMany
Species where no ortholog for KCTD12 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for KCTD12: view image

Paralogs for KCTD12 Gene

Paralogs for KCTD12 Gene

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

  • KCD12_HUMAN
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 Variation AA Info Type
rs1000006898 -- 76,887,386(-) G/A upstream_transcript_variant
rs1000036717 -- 76,887,175(-) T/C upstream_transcript_variant
rs1000082362 -- 76,886,950(-) G/A/C upstream_transcript_variant
rs1000123359 -- 76,886,755(-) C/T upstream_transcript_variant
rs1000268193 -- 76,881,793(-) A/G 3_prime_UTR_variant

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

Variant ID Type Subtype PubMed ID
dgv3261n54 CNV gain 21841781
esv24441 CNV loss 19812545
nsv562371 CNV gain+loss 21841781
nsv562373 CNV loss 21841781
nsv832651 CNV gain 17160897
nsv832652 CNV gain 17160897
nsv951898 CNV duplication 24416366

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)

Additional Variant Information for KCTD12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCTD12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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
  • gist
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KCTD12

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 BL … Morton CC (Journal of the Association for Research in Otolaryngology : JARO 2004) 2 3 4 22 58
  2. Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk. (PMID: 19336475) Drenos F … Hingorani AD (Human molecular genetics 2009) 3 44 58
  3. Pfetin as a prognostic biomarker of gastrointestinal stromal tumors revealed by proteomics. (PMID: 18347171) Suehara Y … Hirohashi S (Clinical cancer research : an official journal of the American Association for Cancer Research 2008) 3 22 58
  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 … D.E.S.I.R. Study Group (Journal of molecular medicine (Berlin, Germany) 2008) 3 44 58
  5. 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 58

Products for KCTD12 Gene

Sources for KCTD12 Gene

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