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Aliases for BTBD3 Gene

Aliases for BTBD3 Gene

  • BTB Domain Containing 3 2 3 5
  • BTB (POZ) Domain Containing 3 2 3
  • BTB/POZ Domain-Containing Protein 3 3
  • DJ742J24.1 3
  • KIAA0952 4

External Ids for BTBD3 Gene

Previous GeneCards Identifiers for BTBD3 Gene

  • GC20P011886
  • GC20P011819

Summaries for BTBD3 Gene

GeneCards Summary for BTBD3 Gene

BTBD3 (BTB Domain Containing 3) is a Protein Coding gene. An important paralog of this gene is BTBD6.

UniProtKB/Swiss-Prot for BTBD3 Gene

  • Acts as a key regulator of dendritic field orientation during development of sensory cortex. Also directs dendrites toward active axon terminals when ectopically expressed (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 BTBD3 Gene

Genomics for BTBD3 Gene

Regulatory Elements for BTBD3 Gene

Enhancers for BTBD3 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
GH20G011849 1.2 FANTOM5 ENCODE 23.3 -39.0 -39035 3.6 TBP KLF17 RAD21 ZNF366 ZSCAN5C ZNF143 PCBP1 CEBPB PRDM6 GLIS1 BTBD3 ENSG00000236526 GC20P011838 LINC00687
GH20G011809 1.1 Ensembl ENCODE 16.5 -80.1 -80131 1.4 KLF1 PKNOX1 ARNT TAF1 JUN KLF17 INSM2 ZNF384 ZIC2 HIC1 BTBD3 RN7SKP111 LOC105372530
GH20G011806 1.2 Ensembl ENCODE dbSUPER 14 -83.0 -82993 2.5 TBP JUN BHLHE40 CEBPB RAD21 EP300 NR2F2 JUND STAT3 FOS BTBD3 ENSG00000236526 RN7SKP111 LOC105372530
GH20G011890 1.3 Ensembl ENCODE 9.6 +3.0 2981 7.1 PKNOX1 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF766 ZNF143 ZNF263 SP5 BTBD3 ENSG00000236526
GH20G011917 0.6 ENCODE 12.3 +28.0 28043 3.1 TBP CTCF RFX1 TAF1 RAD21 RFX5 SMARCA4 POLR2A BTBD3 ENSG00000236526 PIR62959
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BTBD3 on UCSC Golden Path with GeneCards custom track

Promoters for BTBD3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000134767 778 2600 PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF766 GLIS2 ELK1

Genomic Location for BTBD3 Gene

Chromosome:
20
Start:
11,890,723 bp from pter
End:
11,926,609 bp from pter
Size:
35,887 bases
Orientation:
Plus strand

Genomic View for BTBD3 Gene

Genes around BTBD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BTBD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BTBD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BTBD3 Gene

Proteins for BTBD3 Gene

  • Protein details for BTBD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2F9-BTBD3_HUMAN
    Recommended name:
    BTB/POZ domain-containing protein 3
    Protein Accession:
    Q9Y2F9
    Secondary Accessions:
    • D3DW19
    • Q5JY73

    Protein attributes for BTBD3 Gene

    Size:
    522 amino acids
    Molecular mass:
    58420 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA76796.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for BTBD3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BTBD3 Gene

Post-translational modifications for BTBD3 Gene

  • Ubiquitination at posLast=315315
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BTBD3 Gene

Domains & Families for BTBD3 Gene

Gene Families for BTBD3 Gene

Protein Domains for BTBD3 Gene

Suggested Antigen Peptide Sequences for BTBD3 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BTBD3: view

No data available for UniProtKB/Swiss-Prot for BTBD3 Gene

Function for BTBD3 Gene

Molecular function for BTBD3 Gene

UniProtKB/Swiss-Prot Function:
Acts as a key regulator of dendritic field orientation during development of sensory cortex. Also directs dendrites toward active axon terminals when ectopically expressed (By similarity).

Gene Ontology (GO) - Molecular Function for BTBD3 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 BTBD3: view
genes like me logo Genes that share phenotypes with BTBD3: view

Animal Model Products

CRISPR Products

miRNA for BTBD3 Gene

miRTarBase miRNAs that target BTBD3

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BTBD3 Gene

Localization for BTBD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BTBD3 Gene

Cytoplasm, cytosol. Nucleus. Note=Translocates from the cytosol to the nucleus in response to neuronal activity. {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 BTBD3 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for BTBD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol ISS,IBA --
GO:0019005 SCF ubiquitin ligase complex IBA --
genes like me logo Genes that share ontologies with BTBD3: view

Pathways & Interactions for BTBD3 Gene

SuperPathways for BTBD3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BTBD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007399 nervous system development IEA --
GO:0021987 cerebral cortex development ISS,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 --
genes like me logo Genes that share ontologies with BTBD3: view

No data available for Pathways by source and SIGNOR curated interactions for BTBD3 Gene

Drugs & Compounds for BTBD3 Gene

No Compound Related Data Available

Transcripts for BTBD3 Gene

Unigene Clusters for BTBD3 Gene

BTB (POZ) domain containing 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for BTBD3 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d · 9e
SP1: - - - - - -
SP2: - -
SP3: -
SP4: - - - - - - - -
SP5: - -
SP6: - - - -
SP7: -
SP8: - -
SP9:

Relevant External Links for BTBD3 Gene

GeneLoc Exon Structure for
BTBD3
ECgene alternative splicing isoforms for
BTBD3

Expression for BTBD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BTBD3 Gene

mRNA differential expression in normal tissues according to GTEx for BTBD3 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x4.1).

Protein differential expression in normal tissues from HIPED for BTBD3 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for BTBD3 Gene



Protein tissue co-expression partners for BTBD3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BTBD3 Gene:

BTBD3

SOURCE GeneReport for Unigene cluster for BTBD3 Gene:

Hs.709366

Evidence on tissue expression from TISSUES for BTBD3 Gene

  • Nervous system(5)
genes like me logo Genes that share expression patterns with BTBD3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BTBD3 Gene

Orthologs for BTBD3 Gene

This gene was present in the common ancestor of animals.

Orthologs for BTBD3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BTBD3 34 35
  • 99.93 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 97 (a)
OneToMany
-- 35
  • 88 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia BTBD3 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BTBD3 34 35
  • 93.9 (n)
rat
(Rattus norvegicus)
Mammalia Btbd3 34
  • 91.57 (n)
mouse
(Mus musculus)
Mammalia Btbd3 34 35
  • 90.68 (n)
cow
(Bos Taurus)
Mammalia BTBD3 34 35
  • 87.99 (n)
chicken
(Gallus gallus)
Aves BTBD3 34 35
  • 84.91 (n)
lizard
(Anolis carolinensis)
Reptilia BTBD3 35
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia btbd3 34
  • 79.75 (n)
zebrafish
(Danio rerio)
Actinopterygii btbd3b 34 35
  • 74.61 (n)
sbcb776 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7701 34
fruit fly
(Drosophila melanogaster)
Insecta CG5319 36
  • 68 (a)
lute 34 35
  • 64.24 (n)
CG17068 36
  • 38 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004234 34
  • 64.16 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 68 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9981 34
Species where no ortholog for BTBD3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • 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 BTBD3 Gene

ENSEMBL:
Gene Tree for BTBD3 (if available)
TreeFam:
Gene Tree for BTBD3 (if available)

Paralogs for BTBD3 Gene

Paralogs for BTBD3 Gene

genes like me logo Genes that share paralogs with BTBD3: view

Variants for BTBD3 Gene

Sequence variations from dbSNP and Humsavar for BTBD3 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1000034732 -- 11,894,546(+) TCTCT(C/T)TTCTG intron-variant
rs1000040497 -- 11,891,420(+) CGCGC(A/G)GTGGG intron-variant, upstream-variant-2KB
rs1000092227 -- 11,897,974(+) CCAAC(A/G)TGGTG intron-variant
rs1000116236 -- 11,916,141(+) AAGCC(-/AG)ATACT intron-variant, upstream-variant-2KB
rs1000273896 -- 11,916,428(+) GTGTT(C/T)TGCTG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for BTBD3 Gene

Variant ID Type Subtype PubMed ID
dgv168e55 CNV gain 17911159
esv2758782 CNV gain 17122850
esv3410659 CNV insertion 20981092
esv3645231 CNV gain 21293372
esv3645232 CNV gain 21293372
nsv7339 OTHER inversion 18451855
nsv833921 CNV gain 17160897

Variation tolerance for BTBD3 Gene

Residual Variation Intolerance Score: 49.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.84; 34.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BTBD3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BTBD3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BTBD3 Gene

Disorders for BTBD3 Gene

Relevant External Links for BTBD3

Genetic Association Database (GAD)
BTBD3
Human Genome Epidemiology (HuGE) Navigator
BTBD3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BTBD3

No disorders were found for BTBD3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BTBD3 Gene

Publications for BTBD3 Gene

  1. Genome-wide examination of genetic variants associated with response to platinum-based chemotherapy in patients with small-cell lung cancer. (PMID: 20463552) Wu C. … Lin D. (Pharmacogenet. Genomics 2010) 3 46 64
  2. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4 64
  3. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T. … Ohara O. (DNA Res. 1999) 3 4 64
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64
  5. Salt-inducible kinase 3, SIK3, is a new gene associated with hearing. (PMID: 25060954) Wolber L.E. … Williams F.M. (Hum. Mol. Genet. 2014) 3 64

Products for BTBD3 Gene

Sources for BTBD3 Gene

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