Aliases for BTBD6 Gene

Aliases for BTBD6 Gene

  • BTB Domain Containing 6 2 3 5
  • BTB/POZ Domain-Containing Protein 6 3 4
  • BTB (POZ) Domain Containing 6 2 3
  • Lens BTB Domain Protein 3 4
  • BDPL 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • Glucocorticoid Receptor AF-1 Coactivator-1 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 Summary for BTBD6 Gene

  • Adapter protein for the cul3 E3 ubiquitin-protein ligase complex (By similarity). Involved in late neuronal development and muscle formation (By similarity).

Additional gene information for BTBD6 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BTBD6 Gene

Genomics for BTBD6 Gene

GeneHancer (GH) Regulatory Elements for BTBD6 Gene

Promoters and enhancers for BTBD6 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J105247 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 764.2 +0.5 500 2.8 ZNF785 CTCF POLR2A ZNF121 MNT ZNF280D NKRF SP7 MYC ZSCAN21 BTBD6 lnc-BTBD6-2 piR-43563 BRF1
GH14J105192 Enhancer 1.3 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 19.2 -52.1 -52105 7.2 MYC MAX MNT CBFA2T2 TRIM24 EGR1 GLIS2 CREB1 ZIC2 ZBTB8A BTBD6 MTA1 NUDT14 BRF1 IGHA2 CRIP2 TMEM121 JAG2 AB372644-003 piR-49637
GH14J105203 Enhancer 1.1 ENCODE CraniofacialAtlas dbSUPER 20.7 -45.4 -45426 0.4 CTCF RAD21 GLIS2 CREB1 ZIC2 REST ZBTB8A TARDBP TRIM22 ZNF143 BTBD6 piR-49637 AB372644-003
GH14J105204 Enhancer 0.8 ENCODE dbSUPER 20.7 -43.6 -43637 1 FOXA1 USF2 MNT SP1 RXRA FOXA2 SP2 POLR2A MAX JUND BTBD6 CDCA4 NUDT14 piR-49637 AB372644-003
GH14J105292 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 13.3 +45.3 45317 2.9 ZBTB6 MAX IKZF1 ZIC2 RFX1 SCRT2 ZXDB EED HDGF BMI1 BRF1 BTBD6 TEDC1 GPR132 piR-33614-087 lnc-NUDT14-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BTBD6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BTBD6 gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • C/EBPbeta
  • ISGF-3
  • TBP

Genomic Locations for BTBD6 Gene

Genomic Locations for BTBD6 Gene
2,604 bases
Plus strand
2,604 bases
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:
    Recommended name:
    BTB/POZ domain-containing protein 6
    Protein Accession:
    Secondary Accessions:
    • Q8IVQ7
    • Q9BR94

    Protein attributes for BTBD6 Gene

    485 amino acids
    Molecular mass:
    53411 Da
    Quaternary structure:
    No Data Available
    • 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


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

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BTBD6 Gene

Suggested Antigen Peptide Sequences for BTBD6 Gene

GenScript: Design optimal peptide antigens:
  • Lens BTB domain protein (BTBD6_HUMAN)
genes like me logo Genes that share domains with BTBD6: view

No data available for Graphical View of Domain Structure and 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 (By similarity). Involved in late neuronal development and muscle formation (By similarity).

Phenotypes From GWAS Catalog for BTBD6 Gene

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

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for BTBD6

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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. Note=Found in punctated bodies in the cytoplasm. {ECO:0000250 UniProtKB:Q2LE78}.

Subcellular locations from

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 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BTBD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
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 21873635
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

mRNA/cDNA for BTBD6 Gene

CRISPR 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
ECgene alternative splicing isoforms for

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:


SOURCE GeneReport for Unigene cluster for BTBD6 Gene:


mRNA Expression by UniProt/SwissProt for BTBD6 Gene:

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

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
(Canis familiaris)
Mammalia BTBD6 33 32
  • 88.78 (n)
(Bos Taurus)
Mammalia BTBD6 33 32
  • 88.21 (n)
(Mus musculus)
Mammalia Btbd6 17 33 32
  • 86.65 (n)
(Rattus norvegicus)
Mammalia Btbd6 32
  • 86.65 (n)
(Ornithorhynchus anatinus)
Mammalia BTBD6 33
  • 83 (a)
(Monodelphis domestica)
Mammalia BTBD6 33
  • 83 (a)
(Gallus gallus)
Aves BTBD6 33 32
  • 83.14 (n)
(Anolis carolinensis)
Reptilia BTBD6 33
  • 86 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia btbd6 32
  • 77.01 (n)
(Danio rerio)
Actinopterygii btbd6b 33 32
  • 76.04 (n)
btbd6a 33
  • 71 (a)
fruit fly
(Drosophila melanogaster)
Insecta lute 33
  • 41 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 66 (a)
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

Gene Tree for BTBD6 (if available)
Gene Tree for BTBD6 (if available)
Evolutionary constrained regions (ECRs) for BTBD6: view image

Paralogs for BTBD6 Gene

Paralogs for BTBD6 Gene

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

  • F8VPC8_HUMAN 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 Variation AA Info Type
rs1000250251 -- 105,246,703(+) C/A upstream_transcript_variant
rs1001319076 -- 105,248,632(+) T/C 5_prime_UTR_variant, intron_variant
rs1001380786 -- 105,248,824(+) C/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs1003041611 -- 105,247,993(+) C/A upstream_transcript_variant
rs1003271366 -- 105,251,329(+) G/A downstream_transcript_variant

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)

Additional Variant Information for BTBD6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for BTBD6 Gene

Additional Disease Information for 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 DS … MGC Project Team (Genome research 2004) 3 4 56
  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 (Molecular vision 2002) 3 4 56
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  4. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A … Hentze MW (Cell 2012) 3 56
  5. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PMID: 22990118) Woods NT … Monteiro AN (Science signaling 2012) 3 56

Products for BTBD6 Gene

Sources for BTBD6 Gene