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

Aliases for KBTBD12 Gene

Aliases for KBTBD12 Gene

  • Kelch Repeat And BTB Domain Containing 12 2 3 5
  • Kelch Repeat And BTB (POZ) Domain Containing 12 2 3
  • Kelch Domain-Containing Protein 6 3 4
  • Kelch Domain Containing 6 2 3
  • KLHDC6 3 4
  • Kelch Repeat And BTB Domain-Containing Protein 12 3

External Ids for KBTBD12 Gene

Previous HGNC Symbols for KBTBD12 Gene

  • KLHDC6

Previous GeneCards Identifiers for KBTBD12 Gene

  • GC03P129124
  • GC03P127635
  • GC03P125022

Summaries for KBTBD12 Gene

GeneCards Summary for KBTBD12 Gene

KBTBD12 (Kelch Repeat And BTB Domain Containing 12) is a Protein Coding gene. An important paralog of this gene is KBTBD7.

Additional gene information for KBTBD12 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KBTBD12 Gene

Genomics for KBTBD12 Gene

GeneHancer (GH) Regulatory Elements for KBTBD12 Gene

Promoters and enhancers for KBTBD12 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
GH03I127914 Enhancer 0.6 Ensembl ENCODE 563.3 +0.3 345 2.3 NRF1 MAX EZH2 KBTBD12 GC03P127964
GH03I127913 Enhancer 0.5 FANTOM5 560 -1.2 -1176 0.3 ZNF316 NFATC3 NFYB NFYC ASH1L KBTBD12 GC03P127895
GH03I127888 Enhancer 1.4 FANTOM5 Ensembl ENCODE 11.9 -25.3 -25346 3.2 PKNOX1 FEZF1 IRF4 ZNF280A E2F8 ZNF143 FOS ATF7 RUNX3 SP3 TPRA1 KBTBD12 PODXL2 GC03P127885 GC03P127895
GH03I127952 Enhancer 0.4 ENCODE 12.8 +38.6 38615 2.5 ZSCAN21 ZBTB21 JUN KBTBD12 GC03P127964
GH03I127813 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 1.5 -96.2 -96222 10.3 HDGF PKNOX1 CLOCK ZNF133 NEUROD1 SIN3A GLI4 ZNF2 ZBTB7B BRCA1 MGLL RUVBL1 TPRA1 KBTBD12 GC03M127760 ABTB1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KBTBD12 on UCSC Golden Path with GeneCards custom track

Genomic Locations for KBTBD12 Gene

Genomic Locations for KBTBD12 Gene
chr3:127,915,232-127,987,685
(GRCh38/hg38)
Size:
72,454 bases
Orientation:
Plus strand
chr3:127,634,075-127,706,514
(GRCh37/hg19)

Genomic View for KBTBD12 Gene

Genes around KBTBD12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KBTBD12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KBTBD12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KBTBD12 Gene

Proteins for KBTBD12 Gene

  • Protein details for KBTBD12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3ZCT8-KBTBC_HUMAN
    Recommended name:
    Kelch repeat and BTB domain-containing protein 12
    Protein Accession:
    Q3ZCT8
    Secondary Accessions:
    • B5MCC6
    • Q6ZRK1

    Protein attributes for KBTBD12 Gene

    Size:
    623 amino acids
    Molecular mass:
    71096 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for KBTBD12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KBTBD12 Gene

Post-translational modifications for KBTBD12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KBTBD12 Gene

Domains & Families for KBTBD12 Gene

Gene Families for KBTBD12 Gene

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

Suggested Antigen Peptide Sequences for KBTBD12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KBTBD12: view

No data available for UniProtKB/Swiss-Prot for KBTBD12 Gene

Function for KBTBD12 Gene

Phenotypes From GWAS Catalog for KBTBD12 Gene

Gene Ontology (GO) - Molecular Function for KBTBD12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 contributes_to ubiquitin-protein transferase activity IBA --
genes like me logo Genes that share ontologies with KBTBD12: view
genes like me logo Genes that share phenotypes with KBTBD12: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KBTBD12 Gene

Localization for KBTBD12 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 KBTBD12 gene
Compartment Confidence
nucleus 2
cytosol 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for KBTBD12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031463 Cul3-RING ubiquitin ligase complex IBA --
genes like me logo Genes that share ontologies with KBTBD12: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KBTBD12 Gene

Pathways & Interactions for KBTBD12 Gene

SuperPathways for KBTBD12 Gene

No Data Available

Interacting Proteins for KBTBD12 Gene

Gene Ontology (GO) - Biological Process for KBTBD12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with KBTBD12: view

No data available for Pathways by source and SIGNOR curated interactions for KBTBD12 Gene

Drugs & Compounds for KBTBD12 Gene

No Compound Related Data Available

Transcripts for KBTBD12 Gene

mRNA/cDNA for KBTBD12 Gene

Unigene Clusters for KBTBD12 Gene

Kelch repeat and BTB (POZ) domain containing 12:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KBTBD12 Gene

No ASD Table

Relevant External Links for KBTBD12 Gene

GeneLoc Exon Structure for
KBTBD12
ECgene alternative splicing isoforms for
KBTBD12

Expression for KBTBD12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KBTBD12 Gene

mRNA differential expression in normal tissues according to GTEx for KBTBD12 Gene

This gene is overexpressed in Muscle - Skeletal (x12.7) and Heart - Left Ventricle (x8.8).

Protein differential expression in normal tissues from HIPED for KBTBD12 Gene

This gene is overexpressed in Lung (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KBTBD12 Gene



Protein tissue co-expression partners for KBTBD12 Gene

NURSA nuclear receptor signaling pathways regulating expression of KBTBD12 Gene:

KBTBD12

SOURCE GeneReport for Unigene cluster for KBTBD12 Gene:

Hs.132087
genes like me logo Genes that share expression patterns with KBTBD12: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for KBTBD12 Gene

Orthologs for KBTBD12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KBTBD12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KBTBD12 33 34
  • 99.73 (n)
dog
(Canis familiaris)
Mammalia KBTBD12 33 34
  • 91.87 (n)
mouse
(Mus musculus)
Mammalia Kbtbd12 33 16 34
  • 87.22 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 87 (a)
OneToMany
-- 34
  • 80 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Kbtbd12 33
  • 86.55 (n)
oppossum
(Monodelphis domestica)
Mammalia KBTBD12 34
  • 85 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KBTBD12 33 34
  • 81.43 (n)
chicken
(Gallus gallus)
Aves KBTBD12 33 34
  • 75.28 (n)
lizard
(Anolis carolinensis)
Reptilia KBTBD12 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kbtbd12 33
  • 68.36 (n)
zebrafish
(Danio rerio)
Actinopterygii kbtbd12 33 34
  • 60 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 26 (a)
OneToMany
Species where no ortholog for KBTBD12 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for KBTBD12 Gene

ENSEMBL:
Gene Tree for KBTBD12 (if available)
TreeFam:
Gene Tree for KBTBD12 (if available)

Paralogs for KBTBD12 Gene

(2) SIMAP similar genes for KBTBD12 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with KBTBD12: view

Variants for KBTBD12 Gene

Sequence variations from dbSNP and Humsavar for KBTBD12 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000001390 -- 127,932,233(+) T/A intron_variant
rs1000067220 -- 127,948,855(+) A/G intron_variant
rs1000140105 -- 127,947,942(+) A/G intron_variant
rs1000212187 -- 127,919,882(+) T/A/C genic_upstream_transcript_variant, intron_variant
rs1000225778 -- 127,969,176(+) T/C genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for KBTBD12 Gene

Variant ID Type Subtype PubMed ID
dgv4853n100 CNV loss 25217958
dgv4854n100 CNV loss 25217958
nsv1001879 CNV gain 25217958
nsv1002685 CNV gain 25217958

Variation tolerance for KBTBD12 Gene

Residual Variation Intolerance Score: 81.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.95; 36.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KBTBD12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KBTBD12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KBTBD12 Gene

Disorders for KBTBD12 Gene

Additional Disease Information for KBTBD12

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for KBTBD12 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KBTBD12 Gene

Publications for KBTBD12 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  2. The LIFEdb database in 2006. (PMID: 16381901) Mehrle A … Wiemann S (Nucleic acids research 2006) 3 58
  3. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny DM … Gibbs RA (Nature 2006) 4 58
  4. From ORFeome to biology: a functional genomics pipeline. (PMID: 15489336) Wiemann S … Poustka A (Genome research 2004) 3 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4 58

Products for KBTBD12 Gene

Sources for KBTBD12 Gene

Content
Loading form....