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

ZBTB44 Gene

protein-coding   GIFtS: 45
GCID: GC11M130096

Zinc Finger And BTB Domain Containing 44

(Previous name: BTB (POZ) domain containing 15)
(Previous symbol: BTBD15)
  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 And BTB Domain Containing 441 2     ZNF8512 3
BTBD151 2 3     BTB/POZ Domain-Containing Protein 152 3
BTB (POZ) Domain Containing 151 2     HSPC0632
Zinc Finger Protein 8512 3     Zinc Finger And BTB Domain-Containing Protein 442

External Ids:    HGNC: 250011   Entrez Gene: 290682   Ensembl: ENSG000001963237   UniProtKB: Q8NCP53   

Export aliases for ZBTB44 gene to outside databases

Previous GC identifers: GC11M129603 GC11M126049


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

GeneCards Summary for ZBTB44 Gene: 
ZBTB44 (zinc finger and BTB domain containing 44) is a protein-coding gene. Diseases associated with ZBTB44 include retinitis. GO annotations related to this gene include DNA binding and zinc ion binding. An important paralog of this gene is ZBTB18.

UniProtKB/Swiss-Prot: ZBT44_HUMAN, Q8NCP5
Function: May be involved in transcriptional regulation (By similarity)




(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_000011.9  NT_033899.8  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ZBTB44 gene promoter:
         Spz1   LHX3b/Lhx3b   FOXL1   AREB6   MEF-2A   HSF2   LHX3a/Lhx3a   aMEF-2   LyF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidZBTB44 promoter sequence
   Search SABiosciences Chromatin IP Primers for ZBTB44

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ZBTB44


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

Entrez Gene cytogenetic band: 11q24.3   Ensembl cytogenetic band:  11q24.3   HGNC cytogenetic band: 11q24.3

ZBTB44 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZBTB44 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M130096:  view genomic region     (about GC identifiers)

Start:
130,096,572 bp from pter      End:
130,184,607 bp from pter
Size:
88,036 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: ZBT44_HUMAN, Q8NCP5 (See protein sequence)
Recommended Name: Zinc finger and BTB domain-containing protein 44  
Size: 570 amino acids; 63848 Da
Subcellular location: Nucleus (By similarity)
Secondary accessions: Q6IPT8 Q86VJ7 Q86XX5
Alternative splicing: 4 isoforms:  Q8NCP5-1   Q8NCP5-2   Q8NCP5-3   Q8NCP5-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ZBTB44: NX_Q8NCP5

Explore proteomics data for ZBTB44 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NCP5

  • ZBTB44 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ZBTB44 Protein Expression
    REFSEQ proteins: NP_054874.3  
    ENSEMBL proteins: 
     ENSP00000408079   ENSP00000433457   ENSP00000350574   ENSP00000434177   ENSP00000432558  
     ENSP00000436187   ENSP00000435413   ENSP00000380861  

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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ZBTB44 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    ZBTB44 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
    ZNF: Zinc fingers, C2H2-type

    5/6 InterPro protein domains (see all 6):
     IPR015880 Znf_C2H2-like
     IPR011333 BTB/POZ_fold
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR013069 BTB_POZ
     IPR000210 BTB/POZ-like

    Graphical View of Domain Structure for InterPro Entry Q8NCP5

    ProtoNet protein and cluster: Q8NCP5

    1 Blocks protein domain: IPB000210 BTB/POZ domain

    UniProtKB/Swiss-Prot: ZBT44_HUMAN, Q8NCP5
    Similarity: Contains 1 BTB (POZ) domain
    Similarity: Contains 4 C2H2-type zinc fingers


    ZBTB44 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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ZBT44_HUMAN, Q8NCP5
    Function: May be involved in transcriptional regulation (By similarity)

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0005515protein binding ----
    GO:0008270zinc ion binding ----
    GO:0046872metal ion binding IEA--
         
    ZBTB44 for ontologies           About GeneDecksing


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    SwitchGear 3'UTR luciferase reporter plasmidZBTB44 3' UTR sequence
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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 ZBTB44

    3 Interacting proteins for ZBTB44 (Q8NCP53) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD1Q157973I2D: score=1 
    SMAD7O151053I2D: score=1 
    SMURF2Q9HAU43I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--

    ZBTB44 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ZBTB44 (ZBT44)

    Search CenterWatch for drugs/clinical trials and news about ZBTB44 / ZBT44

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 ZBTB44 gene: 
    NM_014155.4  

    Unigene Cluster for ZBTB44:

    Zinc finger and BTB domain containing 44
    Hs.721470  [show with all ESTs]
    Unigene Representative Sequence: NM_014155
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000445008(uc001qfx.3) ENST00000525842(uc001qgb.4) ENST00000357899(uc001qfz.3 uc001qga.3)
    ENST00000530205 ENST00000529982 ENST00000527478 ENST00000525623 ENST00000528448
    ENST00000529348(uc001qgc.1) ENST00000397753
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidZBTB44 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF161548.1 AK023933.1 AK024659.1 AK026770.1 AK096676.1 AK130071.1 AK314701.1 BC017675.2 
    BC040658.1 BC071729.1 

    13 DOTS entries:

    DT.453369  DT.95328396  DT.100646532  DT.100748982  DT.115092  DT.92070124  DT.40127822  DT.91699219 
    DT.95270526  DT.120736652  DT.120779902  DT.102844137  DT.40131694 

    24/270 AceView cDNA sequences (see all 270):

    AI431859 AK024659 BM721219 AI866261 AA286951 CR615509 AI925598 AK130071 
    AW673191 AI245892 AI140524 BG565590 AA352857 BC017675 AA480979 BM352602 
    BF224133 BQ953305 BQ221653 AI989464 BI492109 BM718607 BQ130575 AA765505 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for ZBTB44 (see all 9)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b
    SP1:                                            -                             -                 -           -     -               
    SP2:                                            -                                   -           -           -     -               
    SP3:                                            -                             -     -                                             
    SP4:                                            -                             -     -     -     -           -     -               
    SP5:                                            -                             -     -     -     -                                 


    ECgene alternative splicing isoforms for ZBTB44

    (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

    ZBTB44 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGACTAAGGT
    ZBTB44 Expression
    About this image


    See ZBTB44 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ZBTB44

    SOURCE GeneReport for Unigene cluster: Hs.721470
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    (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 ZBTB44 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Zbtb441 , 5 zinc finger and BTB domain containing 441, 5 91.72(n)1
    96.32(a)1
      9 (16.56 cM)5
    2351321  NM_172765.31  NP_766353.21 
     310306445 
    chicken
    (Gallus gallus)
    Aves ZBTB441 zinc finger and BTB domain containing 44 83.48(n)
    92.22(a)
      419732  XM_417873.3  XP_417873.3 
    lizard
    (Anolis carolinensis)
    Reptilia ZBTB446
    Uncharacterized protein
    66(a)
    1 ↔ 1
    GL343197.1(343815-352447)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.151522 Xenopus laevis transcribed sequence with weak similarity more 77.61(n)    BJ072977.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zbtb441 zinc finger and BTB domain containing 44 65.08(n)
    69.91(a)
      569656  NM_001144798.1  NP_001138270.1 


    ENSEMBL Gene Tree for ZBTB44 (if available)
    TreeFam Gene Tree for ZBTB44 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ZBTB44 gene
    ZBTB182  ZBTB212  ZBTB32  ZBTB142  ZBTB7B2  ENSG000002545532  ZBTB462  ZBTB7C2  
    ZBTB8B2  ZBTB102  ZBTB8A2  ZBTB7A2  ZBTB52  ZBTB492  ZBTB242  ZBTB422  
    MYNN2  
    18/58 SIMAP similar genes for ZBTB44 using alignment to 4 protein entries:     ZBT44_HUMAN (see all proteins) (see all similar genes):
    ZBTB7C    KLHL28    KLHL18    BACH2    KLHL32    ZBTB20
    KLHL2    KLHL26    ZBTB3    KBTBD3    ZBTB22    ZNF410
    ZNF    HZF40    MYNN    kr-znf3    BCL6    ZBTB38

    ZBTB44 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for ZBTB44
    PGOHUM00000257956 PGOHUM00000247561


    (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

    10/1851 SNPs in ZBTB44 are shown (see all 1851)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs797238851,2
    C,F--130096176(+) ACTCCT/CTGGTT 1 -- int13Minor allele frequency- C:0.23CSA WA 121
    rs171391111,2
    C,F,H--130096197(+) ATTGAA/TATGGC 1 -- int19Minor allele frequency- T:0.08NA NS EA CSA WA 677
    rs1141776831,2
    F--130096223(+) GTCAAT/CAAAAT 1 -- int11Minor allele frequency- C:0.01WA 118
    rs1814628801,2
    --130096266(+) AGATGC/TAACCC 1 -- int10--------
    rs753450511,2
    F--130096379(+) TATGGT/CGTTTG 1 -- int12Minor allele frequency- C:0.03CSA WA 120
    rs1864362561,2
    --130096388(+) TGTGAC/GATCTT 1 -- int10--------
    rs1508702741,2
    --130096396(+) CTTTGC/TACTTA 1 -- int10--------
    rs1383359531,2
    --130096471(+) AAGTAA/GATAAT 1 -- int10--------
    rs6178731,2
    C,F,A,H--130096524(+) TGACCT/GCAGGC 1 -- int123Minor allele frequency- G:0.46NS EA NA WA CSA 2337
    rs1908456671,2
    --130096610(+) GAAAAC/TGAAAA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ZBTB44 (130096572 - 130184607 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for ZBTB44:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv33203CNV Loss17666407
    nsv468896CNV Loss19166990
    nsv39016CNV Loss16902084
    nsv818872CNV Loss17921354
    esv34550CNV Loss17911159
    nsv832295CNV Gain17160897
    essv12346CNV CNV17122850
    essv506CNV CNV17122850
    dgv446e1CNV Complex17122850

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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
    2 diseases for ZBTB44:    About MalaCards
    retinitis    


    ZBTB44 for disorders           About GeneDecksing


    Export disorders for ZBTB44 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 ZBTB44 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with ZBTB44)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    2. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 3 Zhang Q.-H.... Chen Z. (2000)
    3. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    4. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    5. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
    6. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    7. ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. (PubMed id 17525332)2 Matsuoka S.... Elledge S.J. (2007)
    8. Functional proteomics mapping of a human signaling pathway. (PubMed id 15231748)1 Colland F....Gauthier J.M. (2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    10. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    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: 29068 HGNC: 25001 AceView: HSPC063 Ensembl:ENSG00000196323 euGenes: HUgn29068
    ECgene: ZBTB44 H-InvDB: ZBTB44

    (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 ZBTB44 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 ZBTB44 gene:
    Search GeneIP for patents involving ZBTB44

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



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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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