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

ZBBX Gene

protein-coding   GIFtS: 41
GCID: GC03M166958

Zinc Finger, B-Box Domain Containing

  See related disease
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
Zinc Finger, B-Box Domain Containing1 2
Zinc Finger B-Box Domain-Containing Protein 12

External Ids:    HGNC: 262451   Entrez Gene: 797402   Ensembl: ENSG000001690647   UniProtKB: A8MT703   

Export aliases for ZBBX gene to outside databases

Previous GC identifers: GC03M168440 GC03M164328


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

GeneCards Summary for ZBBX Gene: 
ZBBX (zinc finger, B-box domain containing) is a protein-coding gene. Diseases associated with ZBBX include attention deficit hyperactivity disorder. GO annotations related to this gene include zinc ion binding.


(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_000003.11  NT_005612.16  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ZBBX gene promoter:
         HFH-3   TBP   CUTL1   NF-E2 p45   FOXL1   FOXI1   FAC1   TFIID   FOXO1a   NF-E2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidZBBX promoter sequence
   Search SABiosciences Chromatin IP Primers for ZBBX

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


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

Entrez Gene cytogenetic band: 3q26.1   Ensembl cytogenetic band:  3q26.1   HGNC cytogenetic band: 3q26.1

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

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M166958:  view genomic region     (about GC identifiers)

Start:
166,958,075 bp from pter      End:
167,099,134 bp from pter
Size:
141,060 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: ZBBX_HUMAN, A8MT70 (See protein sequence)
Recommended Name: Zinc finger B-box domain-containing protein 1  
Size: 800 amino acids; 91426 Da
Sequence caution: Sequence=BAB15532.1; Type=Erroneous initiation;
Secondary accessions: A8MV69 B3KSC1 B5MDJ6 Q9H5T8
Alternative splicing: 2 isoforms:  A8MT70-1   A8MT70-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ZBBX: NX_A8MT70

Explore proteomics data for ZBBX at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_A8MT70

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

    ZBBX Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001186130.1  NP_001186131.1  NP_078963.2  

    ENSEMBL proteins: 
     ENSP00000376519   ENSP00000390232   ENSP00000417678   ENSP00000418861   ENSP00000376517  
     ENSP00000419264   ENSP00000419307   ENSP00000417088   ENSP00000376520   ENSP00000305065  

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IEA--

    ZBBX 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
    1 InterPro protein domain:
     IPR000315 Znf_B-box

    Graphical View of Domain Structure for InterPro Entry A8MT70

    ProtoNet protein and cluster: A8MT70

    UniProtKB/Swiss-Prot: ZBBX_HUMAN, A8MT70
    Similarity: Contains 1 B box-type zinc finger


    ZBBX 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:0008270zinc ion binding IEA--
         
    ZBBX for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ZBBX:
     Increased gamma-H2AX phosphory 

    Animal Models:
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    Inhib. RNA
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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 ZBBX

    (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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ZBBX

    Search CenterWatch for drugs/clinical trials and news about ZBBX

    (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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ZBBX gene (3 alternative transcripts): 
    NM_001199201.1  NM_001199202.1  NM_024687.3  

    Unigene Cluster for ZBBX:

    Zinc finger, B-box domain containing
    Hs.478143  [show with all ESTs]
    Unigene Representative Sequence: NM_001199201
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392766(uc011bpc.2 uc003feq.3 uc003fep.3) ENST00000455345
    ENST00000494898 ENST00000492642 ENST00000392764 ENST00000464922 ENST00000465071
    ENST00000469220 ENST00000474464 ENST00000485651 ENST00000473888 ENST00000392767
    ENST00000307529
    miRNA
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    4 QIAGEN miScript miRNA Assays for microRNAs that regulate ZBBX:
    hsa-miR-3664-5p hsa-miR-3688-3p hsa-miR-34b hsa-miR-7
    SwitchGear 3'UTR luciferase reporter plasmidZBBX 3' UTR sequence
    Inhib. RNA
    Products:
         
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ZBBX
    Sirion Biotech Customized lentivirus for stable overexpression of ZBBX 
                         Customized lentivirus expression plasmids for stable overexpression of ZBBX 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ZBBX
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ZBBX

    Additional mRNA sequence: 

    AK026702.1 AK093296.1 BC034229.1 BC144444.1 

    10 DOTS entries:

    DT.109670  DT.120897114  DT.100752081  DT.100752082  DT.120897125  DT.95257285  DT.95313234  DT.100022036 
    DT.100022037  DT.91730265 

    24/53 AceView cDNA sequences (see all 53):

    BU674688 CD103788 AW663441 AA348419 AA922191 CB321707 BM979266 CA312790 
    BM927090 AA398571 CB243818 AI023584 AA393499 AA890166 CA314860 AW079902 
    AW628213 BC034229 BI462608 CN478675 AX748039 AA725496 AK093296 BX956295 

    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

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


    ZBBX 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
     
     Epithelium (Respiratory System)    fully expand to see all 2 entries
             bronchial epithelia   
     
     Pancreas (Endocrine System)
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...
     
     Nose (Sensory Organs)
             nasal epithelium   
     
     Testis (Reproductive System)

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

    SOURCE GeneReport for Unigene cluster: Hs.478143
        SABiosciences Custom PCR Arrays for ZBBX
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZBBX

    (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 chordates.

    Orthologs for ZBBX gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Zbbx1 , 5 zinc finger, B-box domain containing1, 5 73.64(n)1
    56.86(a)1
      3 (33.72 cM)5
    2132341  NM_172515.21  NP_766103.21 
     750379075 
    chicken
    (Gallus gallus)
    Aves ZBBX6
    zinc finger, B-box domain containing
    31(a)
    1 ↔ 1
    9(20136892-20151401)
    lizard
    (Anolis carolinensis)
    Reptilia ZBBX6
    Uncharacterized protein
    32(a)
    1 ↔ 1
    3(9586933-9660643)
    zebrafish
    (Danio rerio)
    Actinopterygii zbbx1 zinc finger, B-box domain containing 52.66(n)
    44.3(a)
      100001442  XM_003200417.1  XP_003200465.1 


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

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

    (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

    10/2807 SNPs in ZBBX are shown (see all 2807)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1162563961,2
    C,F--166957586(+) GTGTAT/CTAGTC 3 -- int11Minor allele frequency- C:0.01NA 120
    rs1828662101,2
    --166957592(+) TAGTCC/TGTTCT 3 -- int10--------
    rs1112663771,2
    C--166957658(+) TAATTG/TACTCA 3 -- int10--------
    rs1381420731,2
    C--166957696(+) GGAAAC/TCATGG 3 -- int10--------
    rs559898361,2
    C,F--166957734(+) TCAAGT/CGGAGC 3 -- int12Minor allele frequency- C:0.12WA 120
    rs1404867161,2
    --166957780(+) CCCTTA/GTAAAA 3 -- int10--------
    rs1504350121,2
    --166957781(+) CCTTAA/TAAAAC 3 -- int10--------
    rs601462341,2
    C,F--166957814(+) TTATCA/GCGAGA 3 -- int12Minor allele frequency- G:0.13WA EA 238
    rs754905211,2
    C--166957828(+) GCAGCA/CCGGGG 3 -- int12Minor allele frequency- C:0.25NA 4
    rs1161187161,2
    F--166957866(+) CCCACC/AAGGTC 3 -- int11Minor allele frequency- A:0.01WA 118

    HapMap Linkage Disequilibrium report for ZBBX (166958075 - 167099134 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ZBBX: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ZBBX
    DNA2.0 Custom Variant and Variant Library Synthesis for ZBBX

    (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
    2 diseases for ZBBX:    About MalaCards
    attention deficit hyperactivity disorder    

    1 disease from the University of Copenhagen DISEASES database for ZBBX:
    Attention deficit hyperactivity disorder

    ZBBX for disorders           About GeneDecksing


    Export disorders for ZBBX gene to outside databases

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

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    4. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (2006)
    5. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)

    (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: 79740 HGNC: 26245 AceView: FLJ23049 Ensembl:ENSG00000169064 euGenes: HUgn79740
    ECgene: ZBBX H-InvDB: ZBBX

    (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 ZBBX 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 ZBBX gene:
    Search GeneIP for patents involving ZBBX

    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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