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

MIS18BP1 Gene

protein-coding   GIFtS: 45
GCID: GC14M045673

MIS18 binding protein 1

(Previous name: chromosome 14 open reading frame 106 )
(Previous symbol: C14orf106)
  Search for MIS18BP1
in our new
 Human Malady Compendium 
Biological research products
for MIS18BP1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
MIS18 Binding Protein 11 2     Chromosome 14 Open Reading Frame 1061
C14orf1061 2 3     HSA2429772
KNL21 2 3     HsKNL-23
M18BP11 2 3     Kinetochore Null 2 Homolog2
KIAA19031 3     Mis18-Binding Protein 12
Kinetochore-Associated Protein KNL-2 Homolog2 3     Putative Protein P243 Which Interacts With Transcription Factor Sp12
P2432 3     HsKNL-23
FLJ111861     

External Ids:    HGNC: 201901   Entrez Gene: 553202   Ensembl: ENSG000001295347   UniProtKB: Q6P0N03   

Export aliases for MIS18BP1 gene to outside databases


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

UniProtKB/Swiss-Prot: M18BP_HUMAN, Q6P0N0
Function: Required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis

Gene Wiki entry for MIS18BP1 (C14orf106)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for MIS18BP1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMIS18BP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for MIS18BP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MIS18BP1


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

Entrez Gene cytogenetic band: 14q21.2   Ensembl cytogenetic band:  14q21.2   HGNC cytogenetic band: 14q21.1

MIS18BP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MIS18BP1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M045673:  view genomic region     (about GC identifiers)

Start:
45,672,393 bp from pter      End:
45,722,743 bp from pter
Size:
50,351 bases      Orientation:
minus strand

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

UniProtKB/Swiss-Prot: M18BP_HUMAN, Q6P0N0 (See protein sequence)
Recommended Name: Mis18-binding protein 1  
Size: 1132 amino acids; 129085 Da
Subunit: Interacts (via N-terminus) with FLNA (via N-terminus) (By similarity). Interacts with SP1 (Probable).
Interacts with MIS18A. Identified in a complex containing MIS18A, MIS18B, MIS18BP1, RBBP7 and RBBP4
Subcellular location: Nucleus. Chromosome. Chromosome, centromere. Note=Associated with centromeres in interphase
cells, from late anaphase to the G1 phase. Not detected on centromeres during earlier phases of mitosis. Associated
with chromatin
Sequence caution: Sequence=AK002048; Type=Frameshift; Positions=157; Sequence=BAB67796.1; Type=Frameshift;
Positions=154;
1 PDB 3D structure from and Proteopedia for MIS18BP1:
1WGX (3D)    
Secondary accessions: D3DSA7 Q86V14 Q96PY4 Q9NUR5 Q9Y4X9
Alternative splicing: 2 isoforms:  Q6P0N0-1   Q6P0N0-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MIS18BP1: NX_Q6P0N0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6P0N0

  • MIS18BP1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_060823.3  
    ENSEMBL proteins: 
     ENSP00000309790   ENSP00000451783   ENSP00000398902   ENSP00000402011   ENSP00000397184  
    Reactome Protein details: Q6P0N0
    Human Recombinant Protein Products: 
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    Novus Biologicals MIS18BP1 Lysate
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MIS18BP1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000775chromosome, centromeric region IEA--
    GO:0005654nucleoplasm TAS--


    MIS18BP1 for ontologies           About GeneDecksing



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

    MIS18BP1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR017884 SANT_dom
     IPR001005 SANT/Myb
     IPR015216 SANTA
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry Q6P0N0

    ProtoNet protein and cluster: Q6P0N0

    UniProtKB/Swiss-Prot: M18BP_HUMAN, Q6P0N0
    Similarity: Contains 1 SANT domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: M18BP_HUMAN, Q6P0N0
    Function: Required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis

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    SwitchGear 3'UTR luciferase reporter plasmidMIS18BP1 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003682chromatin binding IEA--
    GO:0005515protein binding ----


    MIS18BP1 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1RSF Complex Binds the Centromere.
    RSF Complex Binds the Centromere.1.00
    Deposition of New CENPA-containing Nucleosomes at the Centromere1.00
    Nucleosome assembly1.00
    Deposition of New CENPA-containing Nucleosomes at the Centromere.0.96
    2Cell Cycle
    Cell Cycle1.00
    3Meiotic Synapsis
    Chromosome Maintenance0.56

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/6        Reactome Pathways for MIS18BP1 (see all 6)
        Deposition of New CENPA-containing Nucleosomes at the Centromere.
    Nucleosome assembly
    Cell Cycle
    RSF Complex Binds the Centromere.
    Deposition of New CENPA-containing Nucleosomes at the Centromere



    MIS18BP1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MIS18BP1

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

    5/25 Interacting proteins for MIS18BP1 (Q6P0N03 ENSP000003097904) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SP1P080473, ENSP000003293574I2D: score=1 STRING: ENSP00000329357
    PCBD1P614573, ENSP000002992994I2D: score=1 STRING: ENSP00000299299
    CASC5ENSP000003354634STRING: ENSP00000335463
    CENPAENSP000003368684STRING: ENSP00000336868
    CENPHENSP000002830064STRING: ENSP00000283006
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006334nucleosome assembly TAS--
    GO:0007067mitosis IEA--
    GO:0034080CENP-A containing nucleosome assembly at centromere TAS--
    GO:0051301cell division IEA--


    MIS18BP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 MIS18BP1
    Search CenterWatch for drugs/clinical trials and news about MIS18BP1 / M18BP 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MIS18BP1 gene: 
    NM_018353.4  

    Unigene Cluster for MIS18BP1:

    MIS18 binding protein 1
    Hs.732769  [show with all ESTs]
    Unigene Representative Sequence: NM_018353
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000310806(uc001wwf.3 uc010anh.2) ENST00000470424 ENST00000496413
    ENST00000469020 ENST00000554093 ENST00000454990 ENST00000555653 ENST00000453142
    ENST00000494512 ENST00000492652 ENST00000451174

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    Inhib. RNA
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    Additional cDNA sequence: 

    AB067490.1 AJ242977.1 AK002048.1 BC051885.1 BC065544.1 

    11 DOTS entries:

    DT.211326  DT.211327  DT.100020070  DT.100015696  DT.423380  DT.100662867  DT.100741378  DT.75116113 
    DT.97809369  DT.100708831  DT.91746048 

    24/128 AceView cDNA sequences (see all 128):

    AA743026 AI088021 BE301756 AI285670 BP364906 AI635730 AB067490 AA504111 
    AA897296 AA732375 BX110655 AA992666 AI990563 AU137930 BE018278 AA687275 
    BQ006520 BX505810 BG940341 BC065544 BI917322 AA250749 NM_018353 AA284210 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for MIS18BP1 (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b ^
    SP1:        -                                   -                                                                                                               
    SP2:                                                                                                                                -     -                 -   
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 19
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for MIS18BP1

    (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

    MIS18BP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See MIS18BP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MIS18BP1

    SOURCE GeneReport for Unigene cluster: Hs.732769
        SABiosciences Custom PCR Arrays for MIS18BP1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MIS18BP1

    (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 MIS18BP1 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mis18bp11 , 5 MIS18 binding protein 11, 5 71.78(n)1
    56.4(a)1
      12 (27.21 cM)5
    2176531  NM_172578.21  NP_766166.21 
     651327345 
    chicken
    (Gallus gallus)
    Aves MIS18BP16
    Uncharacterized protein
    30(a)
    1 ↔ 1
    5(61306559-61324205)
    lizard
    (Anolis carolinensis)
    Reptilia MIS18BP16
    --
    31(a)
    1 ↔ 1
    GL343274.1(219-17781)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.158852 Transcribed sequences 74.34(n)    AL873597.2 
    zebrafish
    (Danio rerio)
    Actinopterygii si:busm1-142b24.11 si:busm1-142b24.1 43.3(n)
    28.67(a)
      368727  NM_001006661.1  NP_001006662.1 


    ENSEMBL Gene Tree for MIS18BP1 (if available)
    TreeFam Gene Tree for MIS18BP1 (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, UniProtKB, 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

    10/811 NCBI SNPs in MIS18BP1 are shown (see all 811    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2008478181,2
    --45671899(+) CGGCA-/TTTTTT 1 -- int10--------
    rs1179663231,2
    C,F,--45671944(+) ATTCTA/GTNNNN 1 -- int11Minor allele frequency- G:0.04NA 120
    rs1900195831,2
    --45671972(+) CAGAAA/GTAATC 1 -- int10--------
    rs1489074681,2
    --45671981(+) TCATGA/GTAGTT 1 -- int10--------
    rs1426028571,2
    --45672001(+) AATTAC/TCTTAG 1 -- int10--------
    rs2010880211,2
    C,--45672039(+) TTCCG-/TTAAGT 1 -- int10--------
    rs781864451,2
    F,--45672112(+) GAGTCT/GCTGTT 1 -- int12Minor allele frequency- G:0.04WA NA 238
    rs2022055431,2
    --45672333(+) CAGTC-/ATGATTTG 1 -- int10--------
    rs1146051531,2
    F,--45672336(+) TCATGA/TTTTGT 1 -- int11Minor allele frequency- T:0.06WA 118
    rs1814460181,2
    --45672358(+) TCATCC/GAGTAA 1 -- int10--------

    HapMap Linkage Disequilibrium report for MIS18BP1 (45672393 - 45722743 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for MIS18BP1: --

    SABiosciences Cancer Mutation PCR Assays
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    (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
      --

    (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 MIS18BP1 gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with MIS18BP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Functional genomics identifies a Myb domain-containing protein family required for assembly of CENP-A chromatin. (PubMed id 17339379)1, 2, 3 Maddox P.S.... Desai A. (2007)
    2. Priming of centromere for CENP-A recruitment by human hMis18alpha, hMis18beta, and M18BP1. (PubMed id 17199038)1, 2, 3 Fujita Y....Yanagida M. (2007)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PubMed id 11572484)1, 2 Nagase T....Ohara O. (2001)
    6. A set of proteins interacting with transcription factor Sp1 identified in a two-hybrid screening. (PubMed id 10976766)1, 2 Gunther M....Brison O. (2000)
    7. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    8. CENP-C facilitates the recruitment of M18BP1 to centro meric chromatin. (PubMed id 22540025)1 Dambacher S....Schotta G. (2012)
    9. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    10. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55320 HGNC: 20190 AceView: C14orf106 Ensembl:ENSG00000129534 euGenes: HUgn55320
    ECgene: MIS18BP1 H-InvDB: MIS18BP1

    (According to HUGE)
    About This Section
    HUGE: KIAA1903

    (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 MIS18BP1 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 MIS18BP1 gene:
    Search GeneIP for patents involving MIS18BP1

    GeneCards and IP:
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