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Aliases for BTBD3 Gene

Aliases for BTBD3 Gene

  • BTB Domain Containing 3 2 3
  • BTB (POZ) Domain Containing 3 2 3 5
  • 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 BTBD9.

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 , 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around BTBD3 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for BTBD3 Gene at MOPED

Post-translational modifications for BTBD3 Gene

  • Ubiquitination at Lys 315
  • 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

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for BTBD3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y2F9

UniProtKB/Swiss-Prot:

BTBD3_HUMAN :
  • Contains 1 BACK (BTB/Kelch associated) domain.
Domain:
  • Contains 1 BACK (BTB/Kelch associated) domain.
  • Contains 1 BTB (POZ) domain.
genes like me logo Genes that share domains with BTBD3: view

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).
genes like me logo Genes that share phenotypes with BTBD3: view

Animal Model Products

miRNA for BTBD3 Gene

miRTarBase miRNAs that target BTBD3

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for BTBD3 Gene COMPARTMENTS Subcellular localization image for BTBD3 gene
Compartment Confidence
cytosol 5
nucleus 5
extracellular 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for BTBD3 Gene

Pathways & Interactions for BTBD3 Gene

SuperPathways for BTBD3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BTBD3 Gene

None

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:

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 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



SOURCE GeneReport for Unigene cluster for BTBD3 Gene Hs.709366

genes like me logo Genes that share expression patterns with BTBD3: view

Protein tissue co-expression partners for BTBD3 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia BTBD3 35
  • 87.99 (n)
  • 97.7 (a)
BTBD3 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BTBD3 35
  • 93.9 (n)
  • 98.21 (a)
BTBD3 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Btbd3 35
  • 90.68 (n)
  • 97.7 (a)
Btbd3 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BTBD3 35
  • 99.93 (n)
  • 99.8 (a)
BTBD3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Btbd3 35
  • 91.57 (n)
  • 97.7 (a)
oppossum
(Monodelphis domestica)
Mammalia BTBD3 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 88 (a)
OneToMany
-- 36
  • 97 (a)
OneToMany
chicken
(Gallus gallus)
Aves BTBD3 35
  • 84.91 (n)
  • 96.15 (a)
BTBD3 36
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BTBD3 36
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia btbd3 35
  • 79.75 (n)
  • 91.49 (a)
zebrafish
(Danio rerio)
Actinopterygii btbd3b 35
  • 74.61 (n)
  • 88.95 (a)
sbcb776 35
btbd3b 36
  • 86 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7701 35
fruit fly
(Drosophila melanogaster)
Insecta CG17068 37
  • 38 (a)
CG5319 37
  • 68 (a)
lute 35
  • 64.24 (n)
  • 69.25 (a)
lute 36
  • 43 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004234 35
  • 64.16 (n)
  • 72.07 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9981 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 68 (a)
OneToMany
Species with no ortholog for BTBD3:
  • 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
rs1625 -- 11,888,961(+) aaggt(A/T)acttt upstream-variant-2KB
rs6660 -- 11,926,410(+) TGTAG(C/T)CACTT utr-variant-3-prime
rs1043926 -- 11,925,532(+) ACAAC(A/G)TTCTA utr-variant-3-prime
rs1883792 -- 11,915,737(-) AAAGA(A/G)GGGCA intron-variant
rs1883793 -- 11,911,583(-) TTTTT(C/T)TTTTC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv7339 OTHER Inversion 18451855
dgv1307e1 CNV Complex 17122850
dgv1308e1 CNV Complex 17122850
dgv168e55 CNV Gain 17911159
nsv833921 CNV Gain 17160897
esv271822 CNV Insertion 20981092

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links 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 48 67
  2. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  3. 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
  4. Target gene repression mediated by miRNAs miR-181c and miR-9 both of which are down-regulated by amyloid-I^. (PMID: 21720722) Schonrock N. … GAPtz J. (J. Mol. Neurosci. 2012) 3
  5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie A.G. … Butte N.F. (PLoS ONE 2012) 3

Products for BTBD3 Gene

Sources for BTBD3 Gene

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