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Aliases for BTBD6 Gene

Aliases for BTBD6 Gene

  • BTB Domain Containing 6 2 3 5
  • BTB (POZ) Domain Containing 6 2 3
  • Lens BTB Domain Protein 3 4
  • BDPL 3 4
  • Glucocorticoid Receptor AF-1 Coactivator-1 3
  • BTB/POZ Domain-Containing Protein 6 3
  • BTB Domain Protein BDPL 3

External Ids for BTBD6 Gene

Previous GeneCards Identifiers for BTBD6 Gene

  • GC14U900160
  • GC14P103686
  • GC14P104786
  • GC14P105715
  • GC14P085912

Summaries for BTBD6 Gene

GeneCards Summary for BTBD6 Gene

BTBD6 (BTB Domain Containing 6) is a Protein Coding gene. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System. An important paralog of this gene is BTBD3.

UniProtKB/Swiss-Prot for BTBD6 Gene

  • Adapter protein for the CUL3 E3 ubiquitin-protein ligase complex. Involved in late neuronal development and muscle formation (By similarity).

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BTBD6 Gene

Genomics for BTBD6 Gene

Regulatory Elements for BTBD6 Gene

Enhancers for BTBD6 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
GH14G105192 1.7 FANTOM5 Ensembl ENCODE dbSUPER 19.2 -52.1 -52105 7.2 PKNOX1 ATF1 SIN3A ZNF2 ZBTB7B GLIS2 GATA2 ZNF207 FOS ZNF263 BTBD6 TMEM121 PACS2 NUDT14 IGHA2 CRIP2 JAG2 PIR42636
GH14G105200 1.4 Ensembl ENCODE dbSUPER 20.7 -46.1 -46056 3.0 RB1 KLF17 RAD21 GLIS2 EGR1 ZNF143 ZNF207 PCBP1 DEK EGR2 BTBD6 PIR42636 NUDT14
GH14G105292 1.7 FANTOM5 Ensembl ENCODE dbSUPER 13.3 +45.3 45318 2.9 HDGF MXI1 SIN3A MAX BMI1 EBF1 ZIC2 POLR2A EED SCRT2 BRF1 BTBD6 C14orf80 GPR132 PACS2 GC14P105252
GH14G105204 1 ENCODE dbSUPER 20.7 -43.6 -43637 1.0 AGO1 MAX HIC1 ZFHX2 ZNF157 POLR2A DEK EGR2 SP2 USF2 BTBD6 NUDT14 PIR42636
GH14G105220 0.8 dbSUPER 22.1 -27.5 -27495 1.3 HDGF PKNOX1 ZSCAN4 ZBTB40 ZEB1 SCRT2 ZNF207 FOS RCOR1 IKZF2 BTBD6 ENSG00000257270 LINC00638 PIR42636
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BTBD6 on UCSC Golden Path with GeneCards custom track

Promoters for BTBD6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000073786 410 1401 ZNF76 KLF17 SIN3A ZNF2 RFX5 ZNF121 GLIS2 EGR1 CREM EGR2

Genomic Location for BTBD6 Gene

Chromosome:
14
Start:
105,248,490 bp from pter
End:
105,251,093 bp from pter
Size:
2,604 bases
Orientation:
Plus strand

Genomic View for BTBD6 Gene

Genes around BTBD6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BTBD6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BTBD6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BTBD6 Gene

Proteins for BTBD6 Gene

  • Protein details for BTBD6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96KE9-BTBD6_HUMAN
    Recommended name:
    BTB/POZ domain-containing protein 6
    Protein Accession:
    Q96KE9
    Secondary Accessions:
    • Q8IVQ7
    • Q9BR94

    Protein attributes for BTBD6 Gene

    Size:
    485 amino acids
    Molecular mass:
    53411 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAK39520.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BTBD6 Gene

    Alternative splice isoforms for BTBD6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BTBD6 Gene

Post-translational modifications for BTBD6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BTBD6 Gene

No data available for DME Specific Peptides for BTBD6 Gene

Domains & Families for BTBD6 Gene

Gene Families for BTBD6 Gene

Protein Domains for BTBD6 Gene

Suggested Antigen Peptide Sequences for BTBD6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BTBD6: view

No data available for UniProtKB/Swiss-Prot for BTBD6 Gene

Function for BTBD6 Gene

Molecular function for BTBD6 Gene

UniProtKB/Swiss-Prot Function:
Adapter protein for the CUL3 E3 ubiquitin-protein ligase complex. Involved in late neuronal development and muscle formation (By similarity).

Gene Ontology (GO) - Molecular Function for BTBD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031625 ubiquitin protein ligase binding IBA --
genes like me logo Genes that share ontologies with BTBD6: view

Phenotypes for BTBD6 Gene

GenomeRNAi human phenotypes for BTBD6:
genes like me logo Genes that share phenotypes with BTBD6: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for BTBD6

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for BTBD6 Gene

Localization for BTBD6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BTBD6 Gene

Cytoplasm, P-body. Note=Cytoplasmic bodies. {ECO:0000250}.

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 BTBD6 gene
Compartment Confidence
cytosol 4
nucleus 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for BTBD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000932 P-body IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS,IBA --
GO:0019005 SCF ubiquitin ligase complex IBA --
genes like me logo Genes that share ontologies with BTBD6: view

Pathways & Interactions for BTBD6 Gene

genes like me logo Genes that share pathways with BTBD6: view

Gene Ontology (GO) - Biological Process for BTBD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0022008 neurogenesis IBA --
GO:0030162 regulation of proteolysis IBA --
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IBA --
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IBA --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with BTBD6: view

No data available for SIGNOR curated interactions for BTBD6 Gene

Drugs & Compounds for BTBD6 Gene

No Compound Related Data Available

Transcripts for BTBD6 Gene

Unigene Clusters for BTBD6 Gene

BTB (POZ) domain containing 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for BTBD6

Alternative Splicing Database (ASD) splice patterns (SP) for BTBD6 Gene

No ASD Table

Relevant External Links for BTBD6 Gene

GeneLoc Exon Structure for
BTBD6
ECgene alternative splicing isoforms for
BTBD6

Expression for BTBD6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BTBD6 Gene

NURSA nuclear receptor signaling pathways regulating expression of BTBD6 Gene:

BTBD6

SOURCE GeneReport for Unigene cluster for BTBD6 Gene:

Hs.7367

mRNA Expression by UniProt/SwissProt for BTBD6 Gene:

Q96KE9-BTBD6_HUMAN
Tissue specificity: Expressed in lens.

Evidence on tissue expression from TISSUES for BTBD6 Gene

  • Eye(4.2)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with BTBD6: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for BTBD6 Gene

Orthologs for BTBD6 Gene

This gene was present in the common ancestor of animals.

Orthologs for BTBD6 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia BTBD6 34 35
  • 88.78 (n)
cow
(Bos Taurus)
Mammalia BTBD6 34 35
  • 88.21 (n)
mouse
(Mus musculus)
Mammalia Btbd6 34 16 35
  • 86.65 (n)
rat
(Rattus norvegicus)
Mammalia Btbd6 34
  • 86.65 (n)
oppossum
(Monodelphis domestica)
Mammalia BTBD6 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BTBD6 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves BTBD6 34 35
  • 83.14 (n)
lizard
(Anolis carolinensis)
Reptilia BTBD6 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia btbd6 34
  • 77.01 (n)
zebrafish
(Danio rerio)
Actinopterygii btbd6b 34 35
  • 76.04 (n)
btbd6a 35
  • 71 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta lute 35
  • 41 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 66 (a)
OneToMany
Species where no ortholog for BTBD6 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)
  • chimpanzee (Pan troglodytes)
  • 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 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 BTBD6 Gene

ENSEMBL:
Gene Tree for BTBD6 (if available)
TreeFam:
Gene Tree for BTBD6 (if available)

Paralogs for BTBD6 Gene

Paralogs for BTBD6 Gene

(4) SIMAP similar genes for BTBD6 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for BTBD6 Gene

genes like me logo Genes that share paralogs with BTBD6: view

Variants for BTBD6 Gene

Sequence variations from dbSNP and Humsavar for BTBD6 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1000250251 -- 105,246,703(+) CCGCC(A/C)ACCTT intron-variant, upstream-variant-2KB
rs1001319076 -- 105,248,632(+) TAGGC(C/T)GGGCT intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1001380786 -- 105,248,824(+) GGGCG(C/T)GGCGT intron-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs1003041611 -- 105,247,993(+) TGGGG(A/C)CCAAG intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1003271366 -- 105,251,329(+) CACTA(A/G)CACCT intron-variant, downstream-variant-500B, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for BTBD6 Gene

Variant ID Type Subtype PubMed ID
dgv26n68 CNV loss 17160897
esv2760014 CNV loss 17122850
esv29986 CNV loss 17803354
nsv1052190 CNV gain 25217958
nsv1054190 CNV gain 25217958
nsv1054574 CNV loss 25217958
nsv1070669 CNV deletion 25765185
nsv1143763 CNV deletion 24896259
nsv470679 CNV loss 18288195
nsv510651 CNV deletion 20534489
nsv517055 CNV gain+loss 19592680
nsv566186 CNV loss 21841781

Variation tolerance for BTBD6 Gene

Residual Variation Intolerance Score: 16.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.41; 27.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BTBD6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BTBD6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BTBD6 Gene

Disorders for BTBD6 Gene

Relevant External Links for BTBD6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BTBD6

No disorders were found for BTBD6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BTBD6 Gene

Publications for BTBD6 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  2. Expressed sequence tag analysis of adult human lens for the NEIBank project: over 2000 non-redundant transcripts, novel genes and splice variants. (PMID: 12107413) Wistow G. … Peterson K. (Mol. Vis. 2002) 3 4 64
  3. FTH1 binds to Daxx and inhibits Daxx-mediated cell apoptosis. (PMID: 21573799) Liu F. … Wang Y.X. (Mol. Biol. Rep. 2012) 3 64
  4. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3 64
  5. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PMID: 22990118) Woods N.T. … Monteiro A.N. (Sci Signal 2012) 3 64

Products for BTBD6 Gene

  • Addgene plasmids for BTBD6

Sources for BTBD6 Gene

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