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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 Innate Immune System and Class I MHC mediated antigen processing and presentation. An important paralog of this gene is BTBD3.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies 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
Score
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 2.1 EPDnew Ensembl ENCODE dbSUPER 614.2 +0.5 500 2.8 NKRF ZNF121 ZSCAN21 MYC ZBTB7A YY1 SP7 POLR2A CREM ZNF560 BTBD6 GC14P105251 GC14P105252 PIR36562 BRF1
GH14J105192 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 19.2 -52.1 -52105 7.2 CBFA2T2 ZBTB7A TRIM24 EGR1 CREB1 GLIS2 ZBTB8A ZNF600 PRDM10 ZIC2 BTBD6 NUDT14 IGHA2 CRIP2 TMEM121 JAG2 PIR42636
GH14J105204 Enhancer 0.9 ENCODE dbSUPER 20.8 -43.6 -43637 1 ZBTB7A SP1 RXRA POLR2A FOXA2 MNT SP2 ZNF157 MAX JUND BTBD6 NUDT14 PIR42636
GH14J105292 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 13.3 +45.3 45317 2.9 IKZF1 ZNF600 ZIC2 RFX1 SCRT2 ZXDB EED BMI1 HDGF RCOR1 BRF1 BTBD6 TEDC1 GPR132 PACS2 GC14P105252
GH14J105212 Enhancer 0.6 Ensembl ENCODE 21.6 -35.2 -35231 1.9 ZIC2 POLR2A GLIS1 BTBD6 BRF1 PIR42636
- 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
  • TFIID

Genomic Locations for BTBD6 Gene

Genomic Locations for BTBD6 Gene
chr14:105,248,490-105,251,093
(GRCh38/hg38)
Size:
2,604 bases
Orientation:
Plus strand
chr14:105,714,827-105,717,430
(GRCh37/hg19)
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

HGNC:
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)

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 (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

  • Applied Biological Materials (abm): Clones for BTBD6 - Now 50% OFF >
  • * BTBD6 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * BTBD6 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • 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

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 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

Unigene Clusters for BTBD6 Gene

BTB (POZ) domain containing 6:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for BTBD6 - Now 50% OFF >
  • * BTBD6 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * BTBD6 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • 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

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 35 34
  • 88.78 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BTBD6 35 34
  • 88.21 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Btbd6 17 35 34
  • 86.65 (n)
rat
(Rattus norvegicus)
Mammalia Btbd6 34
  • 86.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BTBD6 35
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BTBD6 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves BTBD6 35 34
  • 83.14 (n)
OneToOne
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 35 34
  • 76.04 (n)
OneToMany
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)
Aminode:
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:

  • BTBD6_HUMAN
  • F8VPC8_HUMAN

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 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
BTBD6

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 58
  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 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. FTH1 binds to Daxx and inhibits Daxx-mediated cell apoptosis. (PMID: 21573799) Liu F … Wang YX (Molecular biology reports 2012) 3 58
  5. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A … Hentze MW (Cell 2012) 3 58

Products for BTBD6 Gene

Sources for BTBD6 Gene

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