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Aliases for KBTBD6 Gene

Aliases for KBTBD6 Gene

  • Kelch Repeat And BTB Domain Containing 6 2 3 5
  • Kelch Repeat And BTB (POZ) Domain Containing 6 2

External Ids for KBTBD6 Gene

Previous GeneCards Identifiers for KBTBD6 Gene

  • GC13M039501
  • GC13M040599
  • GC13M041701
  • GC13M022501

Summaries for KBTBD6 Gene

GeneCards Summary for KBTBD6 Gene

KBTBD6 (Kelch Repeat And BTB Domain Containing 6) is a Protein Coding gene. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. An important paralog of this gene is KBTBD7.

Additional gene information for KBTBD6 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 KBTBD6 Gene

Genomics for KBTBD6 Gene

GeneHancer (GH) Regulatory Elements for KBTBD6 Gene

Promoters and enhancers for KBTBD6 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
GH13I041131 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 -0.2 -160 2.4 HDGF ARNT ARID4B SIN3A DMAP1 IRF4 YY1 SLC30A9 ZNF766 CBX5 KBTBD6 LOC101929140 NAA16 LINC00548 KBTBD7 GC13P041139
GH13I040770 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 23.5 +361.7 361703 1.9 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC MRPS31 KBTBD6 LINC00548 ELF1 FOXO1 SUGT1P3 NAA16 SLC25A15 ENSG00000277794
GH13I040788 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.7 +342.9 342938 2.7 PKNOX1 FOXA2 ARNT ZFP64 SIN3A ETS1 ELK1 ZNF207 ZNF143 ATF7 SLC25A15 KBTBD6 MRPS31 PIR45478
GH13I040679 Enhancer 0.6 ENCODE 10.7 +452.8 452839 0.8 ZFP64 ZNF140 ZC3H11A ZBTB8A ZNF781 ZNF518A ZNF697 PRDM12 ZNF548 NAA16 TPTE2P5 KBTBD6 CYCSP34 SLC25A15 GC13P040667 GC13P040698
GH13I041188 Enhancer 0.4 ENCODE 13.2 -56.0 -55974 1.1 FOXA2 FOS KBTBD6 WBP4 ELF1 MTRF1 KBTBD7 CALM2P3 LOC101929140
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KBTBD6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KBTBD6 gene promoter:

Genomic Locations for KBTBD6 Gene

Genomic Locations for KBTBD6 Gene
chr13:41,127,569-41,132,800
(GRCh38/hg38)
Size:
5,232 bases
Orientation:
Minus strand
chr13:41,701,705-41,706,936
(GRCh37/hg19)

Genomic View for KBTBD6 Gene

Genes around KBTBD6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KBTBD6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KBTBD6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KBTBD6 Gene

Proteins for KBTBD6 Gene

  • Protein details for KBTBD6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86V97-KBTB6_HUMAN
    Recommended name:
    Kelch repeat and BTB domain-containing protein 6
    Protein Accession:
    Q86V97
    Secondary Accessions:
    • Q5T6Y8
    • Q8N8L0
    • Q8NDM5
    • Q96MP6

    Protein attributes for KBTBD6 Gene

    Size:
    674 amino acids
    Molecular mass:
    76138 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC04826.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KBTBD6 Gene

neXtProt entry for KBTBD6 Gene

Post-translational modifications for KBTBD6 Gene

No Post-translational modifications

Other Protein References for KBTBD6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KBTBD6 Gene

Domains & Families for KBTBD6 Gene

Gene Families for KBTBD6 Gene

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

Suggested Antigen Peptide Sequences for KBTBD6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KBTBD6: view

No data available for UniProtKB/Swiss-Prot for KBTBD6 Gene

Function for KBTBD6 Gene

Phenotypes From GWAS Catalog for KBTBD6 Gene

Gene Ontology (GO) - Molecular Function for KBTBD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0004842 contributes_to ubiquitin-protein transferase activity IBA --
GO:0005515 protein binding IPI 20562859
genes like me logo Genes that share ontologies with KBTBD6: view

Phenotypes for KBTBD6 Gene

GenomeRNAi human phenotypes for KBTBD6:
genes like me logo Genes that share phenotypes with KBTBD6: view

miRNA for KBTBD6 Gene

miRTarBase miRNAs that target KBTBD6

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KBTBD6 Gene

Localization for KBTBD6 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 KBTBD6 gene
Compartment Confidence
cytosol 5
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for KBTBD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005829 cytosol TAS --
GO:0031463 Cul3-RING ubiquitin ligase complex IBA --
genes like me logo Genes that share ontologies with KBTBD6: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KBTBD6 Gene

Pathways & Interactions for KBTBD6 Gene

genes like me logo Genes that share pathways with KBTBD6: view

Gene Ontology (GO) - Biological Process for KBTBD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0016567 protein ubiquitination IEA --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with KBTBD6: view

No data available for SIGNOR curated interactions for KBTBD6 Gene

Drugs & Compounds for KBTBD6 Gene

No Compound Related Data Available

Transcripts for KBTBD6 Gene

mRNA/cDNA for KBTBD6 Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(105) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KBTBD6 Gene

Kelch repeat and BTB (POZ) domain containing 6:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KBTBD6 Gene

No ASD Table

Relevant External Links for KBTBD6 Gene

GeneLoc Exon Structure for
KBTBD6
ECgene alternative splicing isoforms for
KBTBD6

Expression for KBTBD6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KBTBD6 Gene

Protein differential expression in normal tissues from HIPED for KBTBD6 Gene

This gene is overexpressed in Urinary Bladder (62.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KBTBD6 Gene



NURSA nuclear receptor signaling pathways regulating expression of KBTBD6 Gene:

KBTBD6

SOURCE GeneReport for Unigene cluster for KBTBD6 Gene:

Hs.534040

Evidence on tissue expression from TISSUES for KBTBD6 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with KBTBD6: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KBTBD6 Gene

Orthologs for KBTBD6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KBTBD6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KBTBD6 33 34
  • 99.7 (n)
dog
(Canis familiaris)
Mammalia KBTBD6 33 34
  • 86.75 (n)
cow
(Bos Taurus)
Mammalia KBTBD6 33 34
  • 85.86 (n)
mouse
(Mus musculus)
Mammalia Zbtbd6 33 34
  • 82.74 (n)
Kbtbd6 16
rat
(Rattus norvegicus)
Mammalia Kbtbd6 33
  • 82.53 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 71 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 70 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii kbtbd7 34
  • 49 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 25 (a)
OneToMany
Species where no ortholog for KBTBD6 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KBTBD6 Gene

ENSEMBL:
Gene Tree for KBTBD6 (if available)
TreeFam:
Gene Tree for KBTBD6 (if available)

Paralogs for KBTBD6 Gene

(6) SIMAP similar genes for KBTBD6 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with KBTBD6: view

Variants for KBTBD6 Gene

Sequence variations from dbSNP and Humsavar for KBTBD6 Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs1000478238 -- 41,132,525(-) A/G 5_prime_UTR_variant
rs1001045150 -- 41,129,122(-) G/A 3_prime_UTR_variant
rs1001494249 -- 41,129,449(-) C/T 3_prime_UTR_variant
rs1001729070 -- 41,132,896(-) A/G upstream_transcript_variant
rs1002281097 -- 41,133,311(-) C/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for KBTBD6 Gene

Variant ID Type Subtype PubMed ID
nsv974084 CNV duplication 23825009
nsv832587 CNV gain 17160897
esv2747299 CNV deletion 23290073

Variation tolerance for KBTBD6 Gene

Residual Variation Intolerance Score: 12.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.32; 26.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KBTBD6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KBTBD6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KBTBD6 Gene

Disorders for KBTBD6 Gene

Additional Disease Information for KBTBD6

No disorders were found for KBTBD6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KBTBD6 Gene

Publications for KBTBD6 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. 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
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert JP … Gingras AC (Journal of proteomics 2015) 3 58

Products for KBTBD6 Gene

Sources for KBTBD6 Gene

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