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Aliases for BTBD11 Gene

Aliases for BTBD11 Gene

  • BTB Domain Containing 11 2 3 5
  • Ankyrin Repeat And BTB/POZ Domain-Containing Protein BTBD11 3 4
  • BTB/POZ Domain-Containing Protein 11 3 4
  • BTB (POZ) Domain Containing 11 2 3
  • ANK-Repeat BTB Domain Containing Protein 3
  • ABTB2B 3

External Ids for BTBD11 Gene

Previous GeneCards Identifiers for BTBD11 Gene

  • GC12P106531
  • GC12P106216
  • GC12P106513
  • GC12P107712
  • GC12P104772

Summaries for BTBD11 Gene

GeneCards Summary for BTBD11 Gene

BTBD11 (BTB Domain Containing 11) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity. An important paralog of this gene is ABTB2.

Additional gene information for BTBD11 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BTBD11 Gene

Genomics for BTBD11 Gene

GeneHancer (GH) Regulatory Elements for BTBD11 Gene

Promoters and enhancers for BTBD11 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
GH12J107491 Enhancer 0.9 Ensembl ENCODE 27.8 +175.0 175033 6 ZNF384 RXRB ATF7 GABPA KLF9 ATF2 SAP130 FOXP1 FOXA1 HNF4A BTBD11 ENSG00000200897 RNA5SP371 ENSG00000257579
GH12J107467 Enhancer 0.8 Ensembl ENCODE 28.8 +150.9 150933 2.6 ZIC2 NFE2L2 FOXA2 FOXP1 FOXA1 ZFP3 RAD21 REST BTBD11 GC12M107479 GC12M107425
GH12J107336 Enhancer 0.8 Ensembl ENCODE 12.4 +20.2 20188 2.7 MAFK NFE2L2 ZNF140 SP1 NFE2 ATF3 MAFG FOSL2 SIN3A PWP1 BTBD11 ENSG00000200897 LOC101929162 PRDM4 CRY1 MTERF2 GC12M107333 GC12M107354
GH12J107671 Enhancer 1 Ensembl ENCODE 9.3 +353.0 353033 3.6 CTCF CEBPG SP1 RXRA ZIC2 CEBPA GATAD2A ZNF143 POLR2A TRIM22 BTBD11 PWP1 ENSG00000222160
GH12J108301 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 4.4 +988.5 988458 7.7 ELF3 CTCF EGR1 IKZF1 ZIC2 CTBP1 ZNF341 NR2C1 ZNF585B SOX13 CMKLR1 SART3 LINC01498 FICD ENSG00000257398 BTBD11 UNG CORO1C SELPLG GC12M108289
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BTBD11 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BTBD11 gene promoter:
  • AREB6
  • FOXI1
  • GR
  • GR-alpha
  • GR-beta
  • HFH-3
  • LCR-F1
  • MyoD
  • Pax-2
  • Pax-2a

Genomic Locations for BTBD11 Gene

Genomic Locations for BTBD11 Gene
chr12:107,317,168-107,659,642
(GRCh38/hg38)
Size:
342,475 bases
Orientation:
Plus strand
chr12:107,712,190-108,053,419
(GRCh37/hg19)
Size:
341,230 bases
Orientation:
Plus strand

Genomic View for BTBD11 Gene

Genes around BTBD11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BTBD11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BTBD11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BTBD11 Gene

Proteins for BTBD11 Gene

  • Protein details for BTBD11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6QL63-BTBDB_HUMAN
    Recommended name:
    Ankyrin repeat and BTB/POZ domain-containing protein BTBD11
    Protein Accession:
    A6QL63
    Secondary Accessions:
    • A4FU41
    • B3KXG3
    • C9J019
    • C9JK80
    • E9PHS4
    • Q3ZTQ4
    • Q52M89
    • Q6ZV99
    • Q8N245

    Protein attributes for BTBD11 Gene

    Size:
    1104 amino acids
    Molecular mass:
    120884 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI01562.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAI01564.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAI46825.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAR21078.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC85963.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=EAW97799.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for BTBD11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BTBD11 Gene

Post-translational modifications for BTBD11 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BTBD11 Gene

Domains & Families for BTBD11 Gene

Gene Families for BTBD11 Gene

Suggested Antigen Peptide Sequences for BTBD11 Gene

GenScript: Design optimal peptide antigens:
  • BTB/POZ domain-containing protein 11 (BTBDB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BTBD11: view

No data available for UniProtKB/Swiss-Prot for BTBD11 Gene

Function for BTBD11 Gene

Molecular function for BTBD11 Gene

UniProtKB/Swiss-Prot Induction:
By all-trans retinoic acid (ATRA).

Phenotypes From GWAS Catalog for BTBD11 Gene

Gene Ontology (GO) - Molecular Function for BTBD11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with BTBD11: view
genes like me logo Genes that share phenotypes with BTBD11: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BTBD11

Clone Products

  • Applied Biological Materials (abm): Clones for BTBD11 - Now 50% OFF >
  • * BTBD11 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * BTBD11 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for BTBD11 Gene

Localization for BTBD11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BTBD11 Gene

Membrane; Single-pass membrane protein.

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 BTBD11 gene
Compartment Confidence
nucleus 3
cytosol 3
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BTBD11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with BTBD11: view

Pathways & Interactions for BTBD11 Gene

PathCards logo

SuperPathways for BTBD11 Gene

No Data Available

Interacting Proteins for BTBD11 Gene

Gene Ontology (GO) - Biological Process for BTBD11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0060395 SMAD protein signal transduction IBA 21873635
genes like me logo Genes that share ontologies with BTBD11: view

No data available for Pathways by source and SIGNOR curated interactions for BTBD11 Gene

Drugs & Compounds for BTBD11 Gene

No Compound Related Data Available

Transcripts for BTBD11 Gene

Unigene Clusters for BTBD11 Gene

BTB (POZ) domain containing 11:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BTBD11

Clone Products

  • Applied Biological Materials (abm): Clones for BTBD11 - Now 50% OFF >
  • * BTBD11 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * BTBD11 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for BTBD11 Gene

No ASD Table

Relevant External Links for BTBD11 Gene

GeneLoc Exon Structure for
BTBD11
ECgene alternative splicing isoforms for
BTBD11

Expression for BTBD11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BTBD11 Gene

mRNA differential expression in normal tissues according to GTEx for BTBD11 Gene

This gene is overexpressed in Esophagus - Mucosa (x8.8).

Protein differential expression in normal tissues from HIPED for BTBD11 Gene

This gene is overexpressed in Bone marrow stromal cell (55.6) and Cerebrospinal fluid (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BTBD11 Gene



NURSA nuclear receptor signaling pathways regulating expression of BTBD11 Gene:

BTBD11

SOURCE GeneReport for Unigene cluster for BTBD11 Gene:

Hs.271272

Evidence on tissue expression from TISSUES for BTBD11 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with BTBD11: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BTBD11 Gene

Orthologs for BTBD11 Gene

This gene was present in the common ancestor of animals.

Orthologs for BTBD11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BTBD11 35 34
  • 98.91 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BTBD11 35 34
  • 94.81 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 94 (a)
OneToMany
-- 35
  • 93 (a)
OneToMany
-- 35
  • 78 (a)
OneToMany
cow
(Bos Taurus)
Mammalia BTBD11 35 34
  • 93.12 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Btbd11 34
  • 91.57 (n)
mouse
(Mus musculus)
Mammalia Btbd11 17 35 34
  • 89.86 (n)
oppossum
(Monodelphis domestica)
Mammalia BTBD11 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves BTBD11 35 34
  • 83.36 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BTBD11 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia btbd11 34
  • 76.86 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15727 34
zebrafish
(Danio rerio)
Actinopterygii btbd11a 35
  • 73 (a)
OneToMany
btbd11b 35 34
  • 71.31 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG43980 35
  • 23 (a)
OneToMany
Species where no ortholog for BTBD11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 BTBD11 Gene

ENSEMBL:
Gene Tree for BTBD11 (if available)
TreeFam:
Gene Tree for BTBD11 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BTBD11: view image

Paralogs for BTBD11 Gene

Paralogs for BTBD11 Gene

(1) SIMAP similar genes for BTBD11 Gene using alignment to 3 proteins:

  • BTBDB_HUMAN
  • C9JV03_HUMAN
  • H0YHR1_HUMAN
genes like me logo Genes that share paralogs with BTBD11: view

Variants for BTBD11 Gene

Sequence variations from dbSNP and Humsavar for BTBD11 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs200629571 uncertain-significance, Malignant tumor of prostate 107,319,088(+) A/G/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant
rs1000013886 -- 107,655,602(+) T/C intron_variant
rs1000020949 -- 107,372,099(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000024997 -- 107,583,841(+) CCC/CC intron_variant
rs1000046037 -- 107,563,627(+) A/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for BTBD11 Gene

Variant ID Type Subtype PubMed ID
dgv910e59 CNV duplication 20981092
esv1000854 CNV deletion 20482838
esv1332246 CNV deletion 17803354
esv2025373 CNV deletion 18987734
esv2746337 CNV deletion 23290073
esv2746338 CNV deletion 23290073
esv2746339 CNV deletion 23290073
esv32768 CNV gain 17666407
esv3630690 CNV loss 21293372
esv3630691 CNV loss 21293372
esv3630692 CNV gain 21293372
nsv1038935 CNV gain 25217958
nsv455705 CNV loss 19166990
nsv524699 CNV loss 19592680
nsv524835 CNV loss 19592680
nsv528273 CNV gain 19592680
nsv560091 CNV gain 21841781
nsv560092 CNV loss 21841781
nsv872 CNV insertion 18451855
nsv873 CNV deletion 18451855
nsv874 CNV insertion 18451855
nsv875 CNV deletion 18451855
nsv876 CNV insertion 18451855

Variation tolerance for BTBD11 Gene

Residual Variation Intolerance Score: 6.29% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.46; 98.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BTBD11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BTBD11
Human Gene Mutation Database (HGMD)
BTBD11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BTBD11 Gene

Disorders for BTBD11 Gene

Additional Disease Information for BTBD11

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

No disorders were found for BTBD11 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BTBD11 Gene

Publications for BTBD11 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 58
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta GD … Pelletier L (Cell 2015) 3 58
  5. Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases. (PMID: 24709693) Cobb J … Thomson W (The pharmacogenomics journal 2014) 3 58

Products for BTBD11 Gene

Sources for BTBD11 Gene

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