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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.

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

Regulatory Elements for KBTBD12 Gene

Enhancers for KBTBD12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G127888 1.6 FANTOM5 Ensembl ENCODE 11.9 -25.3 -25347 3.2 PKNOX1 E2F7 FEZF1 CBX5 ZNF143 FOS SP3 YY2 JUNB TSHZ1 KBTBD12 PODXL2 GC03P127885 GC03P127895
GH03G127952 1 ENCODE 12.8 +38.6 38615 2.5 ATF1 FOXA2 AGO1 ARID4B SIN3A GLIS2 ZNF207 SP3 KAT8 MBD2 KBTBD12 EEFSEC RUVBL1 GC03P127964
GH03G127914 0.9 Ensembl ENCODE 13.2 +0.3 346 2.3 RNF2 SUZ12 NRF1 MAX RBBP5 FOSL1 JUND PRDM10 FOS KBTBD12 GC03P127964
GH03G127910 1.1 Ensembl ENCODE 10 -3.8 -3818 1.4 ZSCAN4 SIN3A ZNF2 ZNF335 GLIS2 ELK1 ZNF416 EGR2 ZBTB11 REST MCM2 TPRA1 KBTBD12 PODXL2 GC03P127895
GH03G127913 0.6 FANTOM5 10 -1.2 -1177 0.3 NFIC ZNF316 NFIB NFYB NFYC KBTBD12 GC03P127895
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KBTBD12 on UCSC Golden Path with GeneCards custom track

Genomic Location for KBTBD12 Gene

Chromosome:
3
Start:
127,915,232 bp from pter
End:
127,987,685 bp from pter
Size:
72,454 bases
Orientation:
Plus strand

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

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

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

CRISPR Products

Inhibitory RNA 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 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:

CRISPR Products

Inhibitory RNA 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

Primer Products

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 34 35
  • 99.73 (n)
dog
(Canis familiaris)
Mammalia KBTBD12 34 35
  • 91.87 (n)
mouse
(Mus musculus)
Mammalia Kbtbd12 34 16 35
  • 87.22 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 87 (a)
OneToMany
-- 35
  • 80 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Kbtbd12 34
  • 86.55 (n)
oppossum
(Monodelphis domestica)
Mammalia KBTBD12 35
  • 85 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KBTBD12 34 35
  • 81.43 (n)
chicken
(Gallus gallus)
Aves KBTBD12 34 35
  • 75.28 (n)
lizard
(Anolis carolinensis)
Reptilia KBTBD12 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kbtbd12 34
  • 68.36 (n)
zebrafish
(Danio rerio)
Actinopterygii kbtbd12 34 35
  • 60 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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 Sequence Context AA Info Type
rs1000001390 -- 127,932,233(+) TCATC(A/T)TCCTC intron-variant
rs1000067220 -- 127,948,855(+) AAGCA(A/G)AGACA intron-variant
rs1000140105 -- 127,947,942(+) TCAAC(A/G)TATGA intron-variant
rs1000212187 -- 127,919,882(+) TGCAG(A/C/T)TTTTT intron-variant
rs1000225778 -- 127,969,176(+) GAAAA(C/T)CTTAA 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)

Relevant External Links 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

Relevant External Links for KBTBD12

Genetic Association Database (GAD)
KBTBD12
Human Genome Epidemiology (HuGE) Navigator
KBTBD12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KBTBD12

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 J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  2. The LIFEdb database in 2006. (PMID: 16381901) Mehrle A. … Wiemann S. (Nucleic Acids Res. 2006) 3 64
  3. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny D.M. … Gibbs R.A. (Nature 2006) 4 64
  4. From ORFeome to biology: a functional genomics pipeline. (PMID: 15489336) Wiemann S. … Poustka A. (Genome Res. 2004) 3 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 4 64

Products for KBTBD12 Gene

Sources for KBTBD12 Gene

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