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BTBD3 Gene

protein-coding   GIFtS: 50
GCID: GC20P011866

BTB (POZ) Domain Containing 3

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Aliases
for BTBD3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
BTB (POZ) Domain Containing 31 2
KIAA09523 5
BTB/POZ Domain-Containing Protein 32
dJ742J24.12

External Ids:    HGNC: 158541   Entrez Gene: 229032   Ensembl: ENSG000001326407   OMIM: 6155665   UniProtKB: Q9Y2F93   

Export aliases for BTBD3 gene to outside databases

Previous GC identifers: GC20P011886 GC20P011819


Summaries
for BTBD3 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for BTBD3 Gene:
BTBD3 (BTB (POZ) domain containing 3) is a protein-coding gene. An important paralog of this gene is BTBD2.

UniProtKB/Swiss-Prot: BTBD3_HUMAN, Q9Y2F9
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)




Genomic Views
for BTBD3 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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TryGeneCards Plus		 Regulatory elements:
   Regulatory transcription factor binding sites in the BTBD3 gene promoter:
         E2F-4   E2F-3a   E2F-5   FOXD3   E2F-2   E2F   E2F-1   POU2F1   POU2F1a   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: BTBD3 promoter sequence
   Search Chromatin IP Primers for BTBD3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BTBD3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p12.2   Ensembl cytogenetic band:  20p12.2   HGNC cytogenetic band: 20p12.2

BTBD3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BTBD3 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P011866:  view genomic region     (about GC identifiers)

Start:
 11,871,371 bp from pter      End:
 11,907,257 bp from pter
Size:
 35,887 bases      Orientation:
 plus strand

Proteins
for BTBD3 gene

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: BTBD3_HUMAN, Q9Y2F9 (See protein sequence)
Recommended Name: BTB/POZ domain-containing protein 3  
Size: 522 amino acids; 58420 Da
Sequence caution: Sequence=BAA76796.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: D3DW19 Q5JY73
Alternative splicing: 2 isoforms:  Q9Y2F9-1   Q9Y2F9-2   

Explore the universe of human proteins at neXtProt for BTBD3: NX_Q9Y2F9

Explore proteomics data for BTBD3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys315
  • Modification sites at PhosphoSitePlus

    • See BTBD3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001269479.1  NP_001269480.1  NP_001269481.1  NP_001269483.1  NP_055777.1  NP_852108.2  

    ENSEMBL proteins: 
     ENSP00000254977   ENSP00000381971   ENSP00000384545   ENSP00000410502   ENSP00000404268  
     ENSP00000397809   ENSP00000408817   ENSP00000404582   ENSP00000367471  

    BTBD3 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein for BTBD3
    OriGene Protein Over-expression Lysate for BTBD3
    OriGene Custom MassSpec
    OriGene Custom Protein Services for BTBD3
    GenScript Custom Purified and Recombinant Proteins Services for BTBD3
    Novus Biologicals BTBD3 Protein
    Novus Biologicals BTBD3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for BTBD3

         		 Search eBioscience for Proteins for BTBD3 

         		antibodies-online proteins for BTBD3 (3 products) 

         		antibodies-online peptides for BTBD3

    BTBD3 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for BTBD3
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    antibodies-online antibodies for BTBD3 (22 products) 

    BTBD3 Assay Products:

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    Cloud-Clone Corp. ELISAs for BTBD3
    Cloud-Clone Corp. CLIAs for BTBD3
    Search eBioscience for ELISAs for BTBD3 
    antibodies-online kits for BTBD3 (4 products) 

    Domains /
    Families
    for BTBD3 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus    		 HGNC Gene Families:
    BTBD: BTB/POZ domain containing

    5 InterPro protein domains:
     IPR012983 PHR
     IPR000210 BTB/POZ-like
     IPR011333 BTB/POZ_fold
     IPR013069 BTB_POZ
     IPR011705 BACK

    Graphical View of Domain Structure for InterPro Entry Q9Y2F9

    ProtoNet protein and cluster: Q9Y2F9

    2 Blocks protein domains:
    IPB000210 BTB/POZ domain
    IPB012983 PHR


    UniProtKB/Swiss-Prot: BTBD3_HUMAN, Q9Y2F9
    Similarity: Contains 1 BACK (BTB/Kelch associated) domain
    Similarity: Contains 1 BTB (POZ) domain


    Find genes that share domains with BTBD3           About GenesLikeMe


    Function
    for BTBD3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BTBD3_HUMAN, Q9Y2F9
    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): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with BTBD3           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for BTBD3

    miRNA
    Products:            		miRTarBase miRNAs that target BTBD3:
    hsa-mir-148b-3p (MIRT019498), hsa-mir-181c-5p (MIRT006896), hsa-mir-148a-3p (MIRT026014), hsa-mir-130b-3p (MIRT020331), hsa-mir-125b-5p (MIRT046061), hsa-mir-19b-3p (MIRT031218), hsa-mir-26a-5p (MIRT050122), hsa-mir-181a-5p (MIRT025154), hsa-mir-21-5p (MIRT030995), hsa-mir-1227-3p (MIRT036405), hsa-mir-98-5p (MIRT027774), hsa-mir-24-3p (MIRT030584)

    Block miRNA regulation of human, mouse, rat BTBD3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BTBD3 (see all 85):
    hsa-miR-323-3p hsa-miR-4272 hsa-miR-877* hsa-miR-4274 hsa-miR-3909 hsa-miR-130b hsa-miR-490-5p hsa-miR-4324
    SwitchGear 3'UTR luciferase reporter plasmid: BTBD3 3' UTR sequence
    Inhib. RNA
    Products:            		OriGene RNAi products in human, mouse, rat for BTBD3
    Predesigned siRNA for gene silencing in human, mouse, rat BTBD3

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for BTBD3

    Clone
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    OriGene ORF clones in mouse, rat for BTBD3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): BTBD3 (NM_181443)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BTBD3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BTBD3

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for BTBD3
    Browse ESI BIO Cell Lines and PureStem Progenitors for BTBD3 
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTBD3


    Localization
    for BTBD3 gene

    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BTBD3_HUMAN, Q9Y2F9: Cytoplasm, cytosol (By similarity). Nucleus (By similarity). Note=Translocates from the
    cytosol to the nucleus in response to neuronal activity (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus2
    extracellular1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005829cytosol ISS--

    Find genes that share ontologies with BTBD3           About GenesLikeMe


    Pathways & Interactions
    for BTBD3 gene

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BTBD3
    Interactions:

        Search GeneGlobe Interaction Network for BTBD3

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for BTBD3 (Q9Y2F93 ENSP000003674714) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLXNB3Q9ULL43, ENSP000003553784I2D: score=2 STRING: ENSP00000355378
    UBCENSP000003448184STRING: ENSP00000344818
    ZBTB16ENSP000003381574STRING: ENSP00000338157
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0021987cerebral cortex development ISS--
    GO:0048813dendrite morphogenesis ISS--

    Find genes that share ontologies with BTBD3           About GenesLikeMe



    Drugs & Compounds
    for BTBD3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BTBD3



    Transcripts
    for BTBD3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for BTBD3 gene (6 alternative transcripts): 
    NM_001282550.1  NM_001282551.1  NM_001282552.2  NM_001282554.1  NM_014962.3  NM_181443.3  

    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000254977(uc002wny.3 uc010zrg.2 uc010zrh.2) ENST00000399006(uc002woa.3 uc010zrf.2)
    ENST00000405977 ENST00000449299 ENST00000450368 ENST00000422390 ENST00000455911
    ENST00000430557 ENST00000488503 ENST00000471120 ENST00000473416 ENST00000473180
    ENST00000378226(uc002wnz.3)
    miRNA
    Products:             		 Block miRNA regulation of human, mouse, rat BTBD3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BTBD3 (see all 85):
    hsa-miR-323-3p hsa-miR-4272 hsa-miR-877* hsa-miR-4274 hsa-miR-3909 hsa-miR-130b hsa-miR-490-5p hsa-miR-4324
    SwitchGear 3'UTR luciferase reporter plasmid: BTBD3 3' UTR sequence
    Inhib. RNA
    Products:             		OriGene RNAi products in human, mouse, rat for BTBD3
    Predesigned siRNA for gene silencing in human, mouse, rat BTBD3
    Clone
    Products:             		 OriGene clones in human, mouse for BTBD3 (see all 11)
    OriGene ORF clones in mouse, rat for BTBD3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): BTBD3 (NM_181443)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BTBD3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BTBD3
    Primer
    Products:            		OriGene qSTAR qPCR primer pairs in human, mouse for BTBD3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BTBD3
      QuantiTect SYBR Green Assays in human, mouse, rat BTBD3
      QuantiFast Probe-based Assays in human, mouse, rat BTBD3

    Selected AceView cDNA sequences (see all 226):

    BM785237 AW190294 AI082210 BP351808 AU132761 CK903919 NM_014962 BQ953571 
    BQ439776 AI032765 CR614620 AU137245 AA322020 BX472195 CF993989 CB961606 
    AA234077 BX645338 CB960524 AU137316 AA969489 AI834229 AA349342 BI759690 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for BTBD3 (see all 9)    About this scheme

    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:                    -                       -                                                                     


    ECgene alternative splicing isoforms for BTBD3

    Expression
    for BTBD3 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    BTBD3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAAATGCAA
    BTBD3 Expression
    About this image


    BTBD3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Limb (Muscoskeletal System)    fully expand to see all 5 entries
             Interzone Cells Stylopod Synovial Joint
             Zeugopod
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Chondrocytes Tracheal Cartilage
             Tracheal Cartilage
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Interzone Cells Stylopod Synovial Joint
             Tracheal Cartilage
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Medulla Oblongata
    BTBD3 Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    BTBD3 Protein Expression
        Custom PCR Arrays for BTBD3
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BTBD3
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTBD3

    Orthologs
    for BTBD3 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of animals.

    Orthologs for BTBD3 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Btbd31 , 5 BTB (POZ) domain containing 31, 5 90.68(n)1
    97.7(a)1    		   2 (68.28 cM)5
    2286621  NM_145534.21  NP_663509.21 
     1382565655 
    chicken
    (Gallus gallus)    		 Aves BTBD31 BTB (POZ) domain containing 3 84.91(n)
    96.15(a)    		   427688  XM_004935234.1  XP_004935291.1 
    lizard
    (Anolis carolinensis)    		 Reptilia BTBD36
    		 BTB (POZ) domain containing 3
    		 96(a)
    		 1 ↔ 1
    		 1(133379751-133421120)
    African clawed frog
    (Xenopus laevis)    		 Amphibia 480560232   -- 82.65(n)    48056023 
    zebrafish
    (Danio rerio)    		 Actinopterygii sbcb7762 sbcb776 75.89(n)   373155  CK353599.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG53193
    lute1    		 lute1 68(a)
    (best of 2)3
    64.24(n)1
    69.25(a)1    		   90A43
    420891  NM_001260220.11  NP_001247149.11 


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

    Paralogs
    for BTBD3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BTBD3 gene
    BTBD22  BTBD12  BTBD62  BTBD192  BTBD92  
    Selected SIMAP similar genes for BTBD3 using alignment to 6 protein entries:     BTBD3_HUMAN (see all proteins) (see all similar genes):
    DKFZp434B055    BTBD6    BTBD2    BTBD1    SPOP    KLHL7
    KLHL3    KLHL2    KLHL28    KLHL38    KLHL22    LZTR1
    KLHL15    KLHL20    KLHL30    KLHL17    SPOPL    KLHL1

    Find genes that share paralogs with BTBD3           About GenesLikeMe



    Genomic Variants
    for BTBD3 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for BTBD3 (see all 765)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 20 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs16251,2
    		C,F,A--11821099(+) aaggtT/Aacttt 1 -- us2k1 tfbs310Minor allele frequency- A:0.30NA CSA WA EA 371
    rs1463216161,2
    		--11821110(+) TCTTCC/TACAGA 1 -- us2k10--------
    rs1881535671,2
    		--11821202(+) AATAAC/TGCAAG 1 -- us2k10--------
    rs1474576471,2
    		C--11821258(+) ACCTG-/CTGT  
                CTGTT     		1 -- us2k10--------
    rs2007973321,2
    		--11821263(+) CTGTC-/TGTT  
                TGTTT     		1 -- us2k10--------
    rs1809488981,2
    		--11821266(+) TCTGTC/TTGTTT 1 -- us2k10--------
    rs1396288301,2
    		--11821278(+) TTTGTC/TTGTTT 1 -- us2k10--------
    rs60332551,2
    		C,F--11821281(+) gtttgT/Cttgct 1 -- us2k1 tfbs310Minor allele frequency- C:0.29NA CSA WA EA 371
    rs1860898151,2
    		--11821332(+) AAGGTA/GTTGGC 1 -- us2k10--------
    rs1440712391,2
    		--11821350(+) GTTGTA/GGAGGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for BTBD3 (11871371 - 11907257 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for BTBD3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv271822CNV Insertion20981092
    dgv168e55CNV Gain17911159
    nsv833921CNV Gain17160897
    dgv1307e1CNV Complex17122850
    dgv1308e1CNV Complex17122850
    nsv7339OTHER Inversion18451855

    Site Specific Mutation Identification with PCR Assays
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    Disorders / Diseases
    for BTBD3 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus    		 OMIM gene information: 615566    OMIM disorders: --


    Find genes that share disorders with BTBD3           About GenesLikeMe

    Genetic Association Database (GAD): BTBD3
    Human Genome Epidemiology (HuGE) Navigator: BTBD3 (2 documents)

    Export disorders for BTBD3 gene to outside databases

    Publications
    for BTBD3 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus
    PubMed articles for BTBD3 gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with BTBD3)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Genome-wide examination of genetic variants associated with response to platinum-based chemotherapy in patients with small-cell lung cancer. (PubMed id 20463552)1, 4 Wu C....Lin D. (Pharmacogenet. Genomics 2010)
    2. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    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. (PubMed id 10231032)1, 2 Nagase T.... Ohara O. (DNA Res. 1999)
    4. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    5. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    6. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (PLoS ONE 2012)
    7. Target gene repression mediated by miRNAs miR-181c and miR-9 both of which are down-regulated by amyloid-I^. (PubMed id 21720722)1 Schonrock N....GAPtz J. (J. Mol. Neurosci. 2012)
    8. Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality. (PubMed id 21348951)1 Parsa A....Liggett S.B. (Clin Transl Sci 2011)
    9. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    10. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (J. Biol. Chem. 2011)

    External Searches for BTBD3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
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      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
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    Genome Databases showing BTBD3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 22903 HGNC: 15854 AceView: BTBD3 Ensembl:ENSG00000132640 euGenes: HUgn22903
    ECgene: BTBD3 H-InvDB: BTBD3

    Other Databases showing BTBD3 gene

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA0952

    Specialized Databases showing BTBD3 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for BTBD3 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for BTBD3 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus    		Patent Information for BTBD3 gene:
    Search GeneIP for patents involving BTBD3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
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