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GFI1B Gene

protein-coding   GIFtS: 57
GCID: GC09P135821

Growth Factor Independent 1B Transcription Repressor

(Previous names: growth factor independent 1B (potential regulator of CDKN1A,...)
  See GFI1B-related diseases
at  

(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
Growth Factor Independent 1B Transcription Repressor1 2
Growth Factor Independent 1B (Potential Regulator Of CDKN1A, Translocated
In CML)1 2
Growth Factor Independent Protein 1B2 3
Potential Regulator Of CDKN1A Translocated In CML2 3
BDPLT172 5
Zinc Finger Protein Gfi-1b2

External Ids:    HGNC: 42381   Entrez Gene: 83282   Ensembl: ENSG000001657027   OMIM: 6043835   UniProtKB: Q5VTD93   

Export aliases for GFI1B gene to outside databases

Previous GC identifers: GC09P126886 GC09P127418 GC09P129174 GC09P131096 GC09P131130 GC09P132850 GC09P134810 GC09P105347


(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 GFI1B Gene:
GFI1B (growth factor independent 1B transcription repressor) is a protein-coding gene. Diseases associated with GFI1B include bleeding disorder, platelet-type, 17, and gray platelet syndrome. GO annotations related to this gene include RNA polymerase II transcription factor binding. An important paralog of this gene is GFI1.

UniProtKB/Swiss-Prot: GFI1B_HUMAN, Q5VTD9
Function: Essential proto-oncogenic transcriptional regulator necessary for development and differentiation of
erythroid and megakaryocytic lineages. Component of a RCOR-GFI-KDM1A-HDAC complex that suppresses, via histone
deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development and controls
hematopoietic differentiation. Transcriptional repressor or activator depending on both promoter and cell type
context; represses promoter activity of SOCS1 and SOCS3 and thus, may regulate cytokine signaling pathways.
Cooperates with GATA1 to repress target gene transcription, such as the apoptosis regulator BCL2L1; GFI1B
silencing in leukemic cell lines markedly increase apoptosis rate. Inhibits down-regulation of MYC and MYB as
well as the cyclin-dependent kinase inhibitor CDKN1A/P21WAF1 in IL6-treated myelomonocytic cells. Represses
expression of GATA3 in T-cell lymphomas and inhibits GATA1-mediated transcription; as GATA1 also mediates
erythroid GFI1B transcription, both GATA1 and GFI1B participate in a feedback regulatory pathway controlling the
expression of GFI1B gene in erythroid cells. Suppresses GATA1-mediated stimulation of GFI1B promoter through
protein interaction. Binds to gamma-satellite DNA and to its own promoter, auto-repressing its own expression.
Alters histone methylation by recruiting histone methyltransferase to target genes promoters. Plays a role in
heterochromatin formation

Gene Wiki entry for GFI1B 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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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GFI1B gene promoter:
         Oct-B1   MZF-1   oct-B3   GATA-3   FOXD3   GATA-1   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): GFI1B promoter sequence
   Search Chromatin IP Primers for GFI1B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GFI1B


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

Entrez Gene cytogenetic band: 9q34.13   Ensembl cytogenetic band:  9q34.13   HGNC cytogenetic band: 9q34.13

GFI1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GFI1B gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P135821:  view genomic region     (about GC identifiers)

Start:
135,820,932 bp from pter      End:
135,867,084 bp from pter
Size:
46,153 bases      Orientation:
plus strand

(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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GFI1B_HUMAN, Q5VTD9 (See protein sequence)
Recommended Name: Zinc finger protein Gfi-1b  
Size: 330 amino acids; 37492 Da
Subunit: Component of a RCOR-GFI-KDM1A-HDAC complex. Interacts directly with RCOR1, KDM1A and HDAC2 (By
similarity). Forms a complex with GATA1. Interacts with histone methyltransferases EHMT2 and SUV39H1. Interacts
with ARIH2 (via RING-type 2). Interacts with RUNX1T1
Secondary accessions: O95270 Q5VTD8 Q6FHZ2 Q6T888
Alternative splicing: 2 isoforms:  Q5VTD9-1   Q5VTD9-2   (Essential for erythroid differentiation. Binds to target gene promoters and associates with the LSD1-CoREST repressor complex more efficiently than the major isoform 1)

Explore the universe of human proteins at neXtProt for GFI1B: NX_Q5VTD9

Explore proteomics data for GFI1B at MOPED

Post-translational modifications: 

  • Methylation at Lys-8 in the SNAG domain seems required for the recruitment of the corepressor complex1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GFI1B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001128503.1  NP_004179.3  

    ENSEMBL proteins: 
     ENSP00000344782   ENSP00000361196   ENSP00000361195   ENSP00000361197   ENSP00000409546  
     ENSP00000446134  

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    Cloud-Clone Corp. Proteins for GFI1B

     
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    GFI1B Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ZNF: Zinc fingers, C2H2-type

    3 InterPro protein domains:
     IPR015880 Znf_C2H2-like
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry Q5VTD9

    ProtoNet protein and cluster: Q5VTD9

    1 Blocks protein domain: IPB007086 C2H2-type zinc finger signature

    UniProtKB/Swiss-Prot: GFI1B_HUMAN, Q5VTD9
    Domain: The zinc finger domains are essential for erythroid expansion and acts as an activation domain whereas non
    finger domain serves as repression domain (By similarity)
    Domain: The SNAG domain of GFIs is required for nuclear location and for interaction with some corepressors (By
    similarity)
    Similarity: Contains 6 C2H2-type zinc fingers


    Find genes that share domains with GFI1B           About GenesLikeMe


    (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,
    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: GFI1B_HUMAN, Q5VTD9
    Function: Essential proto-oncogenic transcriptional regulator necessary for development and differentiation of
    erythroid and megakaryocytic lineages. Component of a RCOR-GFI-KDM1A-HDAC complex that suppresses, via histone
    deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development and controls
    hematopoietic differentiation. Transcriptional repressor or activator depending on both promoter and cell type
    context; represses promoter activity of SOCS1 and SOCS3 and thus, may regulate cytokine signaling pathways.
    Cooperates with GATA1 to repress target gene transcription, such as the apoptosis regulator BCL2L1; GFI1B
    silencing in leukemic cell lines markedly increase apoptosis rate. Inhibits down-regulation of MYC and MYB as
    well as the cyclin-dependent kinase inhibitor CDKN1A/P21WAF1 in IL6-treated myelomonocytic cells. Represses
    expression of GATA3 in T-cell lymphomas and inhibits GATA1-mediated transcription; as GATA1 also mediates
    erythroid GFI1B transcription, both GATA1 and GFI1B participate in a feedback regulatory pathway controlling the
    expression of GFI1B gene in erythroid cells. Suppresses GATA1-mediated stimulation of GFI1B promoter through
    protein interaction. Binds to gamma-satellite DNA and to its own promoter, auto-repressing its own expression.
    Alters histone methylation by recruiting histone methyltransferase to target genes promoters. Plays a role in
    heterochromatin formation
    Induction: By GATA1 which binds to GFI1B promoter in cooperation with the transcription factor NFYA. Target gene
    of transcription factor E2-alpha/TCF3 that promotes growth arrest and apoptosis in lymphomas

         Genatlas biochemistry entry for GFI1B:
    growth factor independence 1B,highly expressed in bone marrow and fetal liver,putative transcriptional
    repression,part of the TSC1 locus,translocated along with ABL1 in chronic myeloid leukemia with translocation
    t(9;22)

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001085RNA polymerase II transcription factor binding IPI15920471
    GO:0003677DNA binding IEA--
    GO:0005515protein binding IPI12874834
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with GFI1B           About GenesLikeMe


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Gfi1b):
     cardiovascular system  cellular  embryogenesis  hematopoietic system  homeostasis/metabolism 
     immune system  integument  mortality/aging 

    Find genes that share phenotypes with GFI1B           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Gfi1btm1Sho for GFI1B

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GFI1B
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GFI1B
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GFI1B

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  AAATCACTGC 

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    SwitchGear 3'UTR luciferase reporter plasmidGFI1B 3' UTR sequence
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    (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
    GFI1B_HUMAN, Q5VTD9: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA12874834
    GO:0005667transcription factor complex IDA15920471
    GO:0016363nuclear matrix IDA12874834

    Find genes that share ontologies with GFI1B           About GenesLikeMe


    (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).
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    SuperPaths for GFI1B About    
    See pathways by source

    SuperPathContained pathways About
    1Lymphocyte Signaling
    Lymphocyte Signaling


    Find genes that share SuperPaths with GFI1B           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for GFI1B
        Lymphocyte Signaling


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GFI1B
    Interactions:

        GeneGlobe Interaction Network for GFI1B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GFI1B (Q5VTD91, 2, 3 ENSP000003447824) via UniProtKB, MINT, STRING, and/or I2D (see all 130)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    JAG2Q9Y2191, 2, 3, ENSP000003281694EBI-946212,EBI-946223 MINT-2860155 MINT-2856213 I2D: score=3 STRING: ENSP00000328169
    ENSG00000237071P143732, 3, ENSP000004052294MINT-2862673 I2D: score=3 STRING: ENSP00000405229
    ENSG00000215641P143732, 3MINT-2862673 I2D: score=3 
    ENSG00000229006P143732, 3MINT-2862673 I2D: score=3 
    ENSG00000234495P143732, 3MINT-2862673 I2D: score=3 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter TAS9566867
    GO:0006366transcription from RNA polymerase II promoter TAS9566867
    GO:0007275multicellular organismal development IEA--
    GO:0008283cell proliferation TAS9566867
    GO:0016568chromatin modification IEA--

    Find genes that share ontologies with GFI1B           About GenesLikeMe



    (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)
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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 GFI1B



    (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 GFI1B gene (2 alternative transcripts): 
    NM_001135031.1  NM_004188.4  

    Unigene Cluster for GFI1B:

    Growth factor independent 1B transcription repressor
    Hs.553160  [show with all ESTs]
    Unigene Representative Sequence: BC043371
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000339463(uc004ccg.3 uc010mzy.3) ENST00000372123 ENST00000372122
    ENST00000372124 ENST00000450530 ENST00000534944
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    Additional mRNA sequence: 

    AF081946.1 AY428733.1 BC035626.2 BC043371.1 BC048254.1 CR536546.1 

    2 DOTS entries:

    DT.439163  DT.121198671 

    8 AceView cDNA sequences:

    BC048254 AF081946 BC035626 AY428733 NM_004188 CR536546 BC043371 BX405771 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for GFI1B    About this scheme

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


    ECgene alternative splicing isoforms for GFI1B

    (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)
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    GFI1B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATTGCTGT
    GFI1B Expression
    About this image


    GFI1B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Liver (Hepatobiliary System)
             Mesothelial Cells Hepatic Mesenchyme
     
     Endothelium (Cardiovascular System)
             Mature Endothelial Cells Blood Brain Barrier
     
     Blood (Cardiovascular System)
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
     
     Brain (Nervous System)
             Mature Endothelial Cells Blood Brain Barrier
    GFI1B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GFI1B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.553160

    UniProtKB/Swiss-Prot: GFI1B_HUMAN, Q5VTD9
    Tissue specificity: Expressed in bone marrow and fetal liver, but also detectable in fetal spleen, fetal thymus,
    and testes. Detected in hematopoietic stem cells, erythroblasts, and megakaryocytes. Overexpressed in bone marrow
    of patients with erythroleukemia and megakaryocytic leukemia as well as in their corresponding leukemic cell
    lines, and markedly repressed in severe aplastic anemia (SAA)

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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for GFI1B gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gfi1b1 , 5 growth factor independent 1B1, 5 84.75(n)1
    85.15(a)1
      2 (19.38 cM)5
    145821  NM_008114.31  NP_032140.11 
     286094555 
    chicken
    (Gallus gallus)
    Aves GFI1B1 growth factor independent 1B transcription repressor 73.65(n)
    75(a)
      395977  NM_205091.1  NP_990422.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    77(a)
    many ↔ many
    GL344213.1(45723-49913)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gfi1b1 growth factor independent 1B transcription repressor 66.98(n)
    68.99(a)
      100489910  XM_002936177.1  XP_002936223.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gfi1b1 growth factor independent 1B transcription repressor 64.59(n)
    65.42(a)
      100151531  NM_001271841.1  NP_001258770.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ly3 photoreceptor morphogenesis (sensu
    Drosophila) more
    86(a)   3 70A8   --
    worm
    (Caenorhabditis elegans)
    Secernentea pag-33 Zinc finger, C2H2 type (5 domains) 76(a)   X(14986422-14989743)   --


    ENSEMBL Gene Tree for GFI1B (if available)
    TreeFam Gene Tree for GFI1B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GFI1B gene
    GFI12  ZNF82  FEZF12  FEZF22  
    Selected SIMAP similar genes for GFI1B using alignment to 1 protein entry:     GFI1B_HUMAN(see all similar genes):
    GFI1    ZNF235    ZNF836    ZNF253    DKFZp451F083    DKFZp686O111
    ZNF493    ZNF595    ZNF667    ZNF675    ZNF681    ZNF75D
    ZNF91    DKFZp686H10254    FEZF2    HZF14    ZNF107    ZNF22

    Find genes that share paralogs with GFI1B           About GenesLikeMe



    (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)
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    Selected SNPs for GFI1B (see all 455)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0355564
    A colorectal cancer sample4--see VAR_0355562 R H mis40--------
    rs1821703171,2
    --135852099(+) TGAGAA/GCTTCT 2 -- us2k10--------
    rs780111571,2
    F--135852127(+) AATGAT/ATTAGA 2 -- us2k11Minor allele frequency- A:0.07WA 118
    rs1487526271,2
    --135852158(+) AGACCC/TCATCT 2 -- us2k10--------
    rs132983271,2
    C,F--135852167(+) CTCTAA/CAAAAA 2 -- us2k16Minor allele frequency- C:0.17NA WA EA 364
    rs1870424701,2
    --135852175(+) AAAATA/TAAAAA 2 -- us2k10--------
    rs1169661151,2
    C,F--135852186(+) ATTAAC/TCAGGC 2 -- us2k11Minor allele frequency- T:0.03NA 120
    rs1423203381,2
    C--135852261(+) GAGGTC/TGAGGC 2 -- us2k10--------
    rs1509895221,2
    --135852387(+) TTGCCC/TAGGCT 2 -- us2k10--------
    rs132980801,2
    C--135852420(+) ACTCAC/TCGCAA 2 -- us2k14Minor allele frequency- T:0.18NA WA EA 360

    HapMap Linkage Disequilibrium report for GFI1B (135820932 - 135867084 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for GFI1B:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2739138CNV Deletion23290073
    nsv894026CNV Loss21882294
    nsv894025CNV Loss21882294
    nsv831743CNV Loss17160897
    nsv894027CNV Gain21882294
    nsv831744CNV Gain+Loss17160897

    Human Gene Mutation Database (HGMD): GFI1B
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GFI1B
    DNA2.0 Custom Variant and Variant Library Synthesis for GFI1B

    (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.)
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    OMIM gene information: 604383   
    OMIM disorders: 187900  
    UniProtKB/Swiss-Prot: GFI1B_HUMAN, Q5VTD9
  • Bleeding disorder, platelet-type 17 (BDPLT17) [MIM:187900]: An autosomal dominant disorder characterized
    by increased bleeding tendency due to platelet dysfunction, and associated with macrothrombocytopenia and red
    cell anisopoikilocytosis. Platelets appear abnormal on light microscopy, while electron microscopy shows a
    heterogeneous decrease of alpha granules within platelets. Bone marrow biopsy shows increased numbers of abnormal
    megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The severity of bleeding is
    variable with some affected individuals experiencing spontaneous bleeding while other exhibit only abnormal
    bleeding with surgery. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 6 diseases for GFI1B:    
    About MalaCards
    bleeding disorder, platelet-type, 17    gray platelet syndrome    reticular dysgenesis    cataract 6, multiple types
    megakaryocytic leukemia    aplastic anemia

    1 disease from the University of Copenhagen DISEASES database for GFI1B:
    Reticular dysgenesis

    Find genes that share disorders with GFI1B           About GenesLikeMe

    Human Genome Epidemiology (HuGE) Navigator: GFI1B (1 document)

    Export disorders for GFI1B 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)
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    PubMed articles for GFI1B gene, integrated from 10 sources (see all 36):
    (articles sorted by number of sources associating them with GFI1B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human homologue (GFI1B) of the chicken GFI gene maps to chromosome 9q34.13-A locus frequently altered in hematopoietic diseases. (PubMed id 9878267)1, 2, 3 Roedel B.... Moeroey T. (Genomics 1998)
    2. GATA-1 mediates auto-regulation of Gfi-1B transcription in K562 cells. (PubMed id 16177182)1, 2, 9 Huang D.-Y.... Chang Z.-F. (Nucleic Acids Res. 2005)
    3. GATA-1 and Gfi-1B interplay to regulate Bcl-xL transcription. (PubMed id 17420275)1, 2, 9 Kuo Y.-Y. and Chang Z.-F. (Mol. Cell. Biol. 2007)
    4. GATA-1 and NF-Y cooperate to mediate erythroid-specific transcription of Gfi-1B gene. (PubMed id 15280509)1, 2, 9 Huang D.Y.... Chang Z.F. (Nucleic Acids Res. 2004)
    5. Growth factor independent 1B (Gfi1b) is an E2A target gene that modulates Gata3 in T-cell lymphomas. (PubMed id 17272506)1, 2, 9 Wei X. and Kee B.L. (Blood 2007)
    6. Erythroid expansion mediated by the Gfi-1B zinc finger protein: role in normal hematopoiesis. (PubMed id 12351384)1, 2, 9 Osawa M.... Iwama A. (Blood 2002)
    7. A dominant-negative GFI1B mutation in the gray platelet syndrome. (PubMed id 24325358)1, 2 Monteferrario D....Van der Reijden B.A. (N. Engl. J. Med. 2014)
    8. GFI1B mutation causes a bleeding disorder with abnormal platelet function. (PubMed id 23927492)1, 2 Stevenson W.S.... Ward C.M. (J. Thromb. Haemost. 2013)
    9. A short Gfi-1B isoform controls erythroid differentiation by recruiting the LSD1-CoREST complex through the dimethylation of its SNAG domain. (PubMed id 22399799)1, 2 Laurent B.... Dumenil D. (J. Cell Sci. 2012)
    10. Gfi1b alters histone methylation at target gene promoters and sites of gamma-satellite containing heterochromatin. (PubMed id 16688220)1, 2 Vassen L.... Moeroey T. (EMBO J. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 8328 HGNC: 4238 AceView: GFI1B Ensembl:ENSG00000165702 euGenes: HUgn8328
    ECgene: GFI1B H-InvDB: GFI1B

    (According to HUGE)
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      --

    (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

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    NameDescription
    PharmGKB entry for GFI1B Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GFI1B Genetics and Cytogenetics in Oncology and Haematology

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

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    Patent Information for GFI1B gene:
    Search GeneIP for patents involving GFI1B

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



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