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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BTBD17 Gene

protein-coding   GIFtS: 39
GCID: GC17M072352

BTB (POZ) Domain Containing 17

Microbiology & Infectious Diseases Congress
  Search for BTBD17
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
BTB (POZ) Domain Containing 171 2     BTB/POZ And BACK Domain-Containing Protein LOC3884192
Transport And Golgi Organization 10 Homolog A (Drosophila)1     BTB/POZ Domain-Containing Protein 172
BTBD17A2     Transport And Golgi Organization 10 Homolog A2
LGALS3BPL2     Galectin-3-Binding Protein-Like3
TANGO10A2     

External Ids:    HGNC: 337581   Entrez Gene: 3884192   Ensembl: ENSG000002043477   UniProtKB: A6NE023   

Export aliases for BTBD17 gene to outside databases

Previous GC identifers: GC17M069865 GC17M067762


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for BTBD17 Gene: 
BTBD17 (BTB (POZ) domain containing 17) is a protein-coding gene. An important paralog of this gene is LGALS3BP.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.2  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BTBD17 gene promoter:
         RFX1   NF-1/L   NF-1   FOXO3   NF-kappaB   c-Ets-1   AREB6   Max   NF-kappaB1   c-Myc   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for BTBD17

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BTBD17


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

Entrez Gene cytogenetic band: 17q25.1   Ensembl cytogenetic band:  17q25.1   HGNC cytogenetic band: 17q25.1

BTBD17 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BTBD17 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M072352:  view genomic region     (about GC identifiers)

Start:
72,352,555 bp from pter      End:
72,358,085 bp from pter
Size:
5,531 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: BTBDH_HUMAN, A6NE02 (See protein sequence)
Recommended Name: BTB/POZ domain-containing protein 17 precursor  
Size: 478 amino acids; 52471 Da
Subcellular location: Secreted (Potential)

Explore the universe of human proteins at neXtProt for BTBD17: NX_A6NE02

Explore proteomics data for BTBD17 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_A6NE02

  • BTBD17 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BTBD17 Protein Expression
    REFSEQ proteins: NP_001073935.1  
    ENSEMBL proteins: 
     ENSP00000364515  

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    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005737colocalizes with cytoplasm ISS--
    GO:0005886plasma membrane ISS--

    BTBD17 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    BTBD: BTB/POZ domain containing

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

    Graphical View of Domain Structure for InterPro Entry A6NE02

    ProtoNet protein and cluster: A6NE02

    UniProtKB/Swiss-Prot: BTBDH_HUMAN, A6NE02
    Similarity: Contains 1 BACK (BTB/Kelch associated) domain
    Similarity: Contains 1 BTB (POZ) domain


    BTBD17 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    BTBD17 for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BTBD17

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009615response to virus ISS--
    GO:0045071negative regulation of viral genome replication ISS--

    BTBD17 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for BTBD17 (BTBDH)

    Search CenterWatch for drugs/clinical trials and news about BTBD17 / BTBDH

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for BTBD17 gene: 
    NM_001080466.1  

    Unigene Cluster for BTBD17:

    BTB (POZ) domain containing 17
    Hs.211870  [show with all ESTs]
    Unigene Representative Sequence: NM_001080466
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000375366(uc002jkn.2)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Inhib. RNA
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    1 DOTS entry:

    DT.120995993 

    24/30 AceView cDNA sequences (see all 30):

    AI569728 BE858105 AI199676 BF116017 CA430895 AI590084 AI088747 AW135964 
    BF513472 BF115458 AW007054 AI828151 AI885663 BE223011 BG394808 AI569769 
    AI939616 AW014243 BF347984 BG470892 AI475044 BI714844 AI554692 AI498970 

    GeneLoc Exon Structure


    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BTBD17 expression in normal human tissues (normalized intensities)      BTBD17 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATCCCACCGG
    BTBD17 Expression
    About this image


    BTBD17 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 14 entries
             Thalamus
             Fetal Neuronal Stem Cells (NSC)   
             Septum   
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             retinal progenitor cell e12.5   
     
     Inner Cell Mass (Early Embryonic Tissues)
             ESI-049   
     
     Spinal Cord (Nervous System)
             Ventral Horn   

    See BTBD17 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BTBD17

    SOURCE GeneReport for Unigene cluster: Hs.211870
        SABiosciences Custom PCR Arrays for BTBD17
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTBD17

    (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

    This gene was present in the common ancestor of animals.

    Orthologs for BTBD17 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Btbd171 , 5 BTB (POZ) domain containing 171, 5 87.49(n)1
    92.87(a)1
      11 (80.54 cM)5
    720141  NM_028055.41  NP_082331.11 
     1147912175 
    chicken
    (Gallus gallus)
    Aves BTBD171 BTB (POZ) domain containing 17 75.3(n)
    68.95(a)
      427813  XM_425385.3  XP_425385.2 
    lizard
    (Anolis carolinensis)
    Reptilia BTBD176
    BTB (POZ) domain containing 17
    61(a)
    1 ↔ 1
    2(98345804-98358105)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.107092 Transcribed sequence with weak similarity to protein more 73.83(n)    142012844 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5636721 BTB/POZ domain-containing protein 17-like 63.88(n)
    59.78(a)
      563672  XM_687031.1  XP_692123.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Tango101 Transport and Golgi organization 10 45.19(n)
    29.33(a)
      32125  NM_167302.2  NP_727555.1 
    worm
    (Caenorhabditis elegans)
    Secernentea W07A12.46
    Protein W07A12.4
    18(a)
    1 → many
    II(9148356-9152311)


    ENSEMBL Gene Tree for BTBD17 (if available)
    TreeFam Gene Tree for BTBD17 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BTBD17 gene
    LGALS3BP2  

    BTBD17 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/192 SNPs in BTBD17 are shown (see all 192)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1838397941,2
    --72352527(+) TTTTAC/TCCAGA 1 -- ds50010--------
    rs1892031121,2
    --72352593(+) AAGAAC/TGTTCC 1 -- ut310--------
    rs1119723171,2
    C,F--72352636(+) CAGGCG/ATCTTG 1 -- ut311Minor allele frequency- A:0.50CSA 2
    rs1411721041,2
    C--72352638(+) GCATC-/TTTGTC 1 -- ut310--------
    rs556906601,2
    C,F--72352686(+) TGGCCG/AGCGCC 1 -- ut315Minor allele frequency- A:0.23NA WA EA 362
    rs1821709941,2
    C--72352782(+) TTATTC/TCCAGA 1 -- ut310--------
    rs2018802571,2
    --72352833(+) CGGGCC/TTGACG 2 K R mis10--------
    rs1402553091,2
    C,F--72352891(+) CCGCTG/ACAGGT 2 /Q /* stg12Minor allele frequency- A:0.00NA EU 5739
    rs2010865201,2
    C--72352988(+) GCCCCC/GACCAG 2 V syn10--------
    rs1449832321,2
    --72353191(+) GTCGTG/TGCCAC 2 N H mis10--------

    HapMap Linkage Disequilibrium report for BTBD17 (72352555 - 72358085 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for BTBD17:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv12e196CNV Duplication17116639
    nsv509673CNV Insertion20534489
    esv33995CNV Loss17666407
    nsv833539CNV Loss17160897
    nsv908742CNV Loss21882294
    nsv908741CNV Loss21882294
    esv2751770CNV Gain17911159
    nsv833538CNV Gain17160897
    dgv372n27CNV Gain19166990
    nsv517569CNV Gain+Loss19592680

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

    (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

    PubMed article for BTBD17 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with BTBD17)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)1, 2 Zody M.C.... Nusbaum C. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 388419 HGNC: 33758 AceView: LOC388419 Ensembl:ENSG00000204347 euGenes: HUgn388419
    ECgene: BTBD17 H-InvDB: BTBD17

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BTBD17 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BTBD17 gene:
    Search GeneIP for patents involving BTBD17

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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