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Aliases for KBTBD12 Gene

Aliases for KBTBD12 Gene

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

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 KBTBD8.

No data available for Entrez Gene 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 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 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

Proteomics data for KBTBD12 Gene at MOPED

Post-translational modifications for KBTBD12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KBTBD12 Gene

No data available for DME Specific Peptides for KBTBD12 Gene

Domains & Families for KBTBD12 Gene

Gene Families for KBTBD12 Gene

Protein Domains for KBTBD12 Gene

Suggested Antigen Peptide Sequences for KBTBD12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q3ZCT8

UniProtKB/Swiss-Prot:

KBTBC_HUMAN :
  • Contains 1 BACK (BTB/Kelch associated) domain.
  • Contains 4 Kelch repeats.
Domain:
  • Contains 1 BACK (BTB/Kelch associated) domain.
  • Contains 1 BTB (POZ) domain.
Similarity:
  • Contains 4 Kelch repeats.
genes like me logo Genes that share domains with KBTBD12: view

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

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
Jensen Localization Image for KBTBD12 Gene COMPARTMENTS Subcellular localization image for KBTBD12 gene
Compartment Confidence
cytosol 2
nucleus 2
golgi apparatus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components 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

None

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:

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 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



SOURCE GeneReport for Unigene cluster for KBTBD12 Gene Hs.132087

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

Protein tissue co-expression partners for KBTBD12 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia KBTBD12 35
  • 81.43 (n)
  • 88.57 (a)
KBTBD12 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KBTBD12 35
  • 91.87 (n)
  • 94.06 (a)
KBTBD12 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kbtbd12 35
  • 87.22 (n)
  • 92.11 (a)
Kbtbd12 16
Kbtbd12 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KBTBD12 35
  • 99.73 (n)
  • 99.36 (a)
KBTBD12 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kbtbd12 35
  • 86.55 (n)
  • 90.84 (a)
oppossum
(Monodelphis domestica)
Mammalia KBTBD12 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 80 (a)
OneToMany
-- 36
  • 87 (a)
OneToMany
chicken
(Gallus gallus)
Aves KBTBD12 35
  • 75.28 (n)
  • 75.44 (a)
KBTBD12 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KBTBD12 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kbtbd12 35
  • 68.36 (n)
  • 68.41 (a)
zebrafish
(Danio rerio)
Actinopterygii kbtbd12 35
  • 60 (n)
  • 57.38 (a)
kbtbd12 36
  • 56 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 26 (a)
OneToMany
Species with no ortholog for KBTBD12:
  • 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

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
rs4141499 - 127,923,125(-) GTTCT(G/T)AATTT reference, missense
rs1864889 -- 127,972,439(-) AAAAC(A/C)CAACA intron-variant
rs7613218 -- 127,986,956(+) ACCAT(C/T)GCCCG intron-variant, utr-variant-3-prime
rs4558707 -- 127,922,945(+) TTTCC(C/T)TTAGA intron-variant, upstream-variant-2KB
rs6763861 -- 127,916,130(+) ATAAA(C/G/T)CACTG intron-variant

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Relevant External Links 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 48 67
  2. The LIFEdb database in 2006. (PMID: 16381901) Mehrle A. … Wiemann S. (Nucleic Acids Res. 2006) 3
  3. From ORFeome to biology: a functional genomics pipeline. (PMID: 15489336) Wiemann S. … Poustka A. (Genome Res. 2004) 3
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  5. DNA cloning using in vitro site-specific recombination. (PMID: 11076863) Hartley J.L. … Brasch M.A. (Genome Res. 2000) 3

Products for KBTBD12 Gene

Sources for KBTBD12 Gene

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