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

POU5F1B Gene

protein-coding   GIFtS: 40
GCID: GC08P128426

POU class 5 homeobox 1B

(Previous names: POU domain class 5, transcription factor 1 pseudogene 1,...)
(Previous symbols: OTF3P1, POU5F1P1)
 Explore 13 diseases affiliated with
POU5F1B via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for POU5F1B    

Aliases
for POU5F1B gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
POU Class 5 Homeobox 1B1 2     POU5F1P42
OTF3C1 2 3     Octamer Binding Protein 3_like Sequence2
OTF3P11 2 3     POU 5 Domain Protein2
POU5F1P11 2 3     POU Domain Transcription Factor Oct-42
POU Class 5 Homeobox 1 Pseudogene 11 2     POU Domain Transcription Factor OCT4-Pg12
POU5FLC202 3     POU Domain, Class 5, Transcription Factor 1 Pseudogene 12
POU5FLC82 3     Putative POU Domain, Class 5, Transcription Factor 1B2
POU Domain Class 5, Transcription Factor 1 Pseudogene 11     Octamer-Binding Protein 3-Like3
OCT4-PG12     Octamer-Binding Transcription Factor 3-Like3

External Ids:    HGNC: 92231   Entrez Gene: 54622   Ensembl: ENSG000002129937   UniProtKB: Q064163   

Export aliases for POU5F1B gene to outside databases

Previous GC identifers: GC08P128499 GC08P123746


Summaries
for POU5F1B gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for POU5F1B:
This intronless gene was thought to be a transcribed pseudogene of POU class 5 homeobox 1, however, it has been
reported that this gene can encode a functional protein. The encoded protein is nearly the same length as and highly
similar to the POU class 5 homeobox 1 transcription factor, has been shown to be a weak transcriptional activator and
may play a role in carcinogenesis and eye development. (provided by RefSeq, Apr 2009)

UniProtKB/Swiss-Prot: P5F1B_HUMAN, Q06416
Function: Shows weak transcriptional activator activity




Genomic Views
for POU5F1B 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_008046.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the POU5F1B gene promoter:
         STAT5B   AML1a   Pbx1a   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   CUTL1   Cdc5   POU3F2   Gfi-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for POU5F1B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat POU5F1B


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

Entrez Gene cytogenetic band: 8q24.21   Ensembl cytogenetic band:  8q24.21   HGNC cytogenetic band: 8q24.21

POU5F1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POU5F1B gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P128426:  view genomic region     (about GC identifiers)

Start:
 128,426,535 bp from pter      End:
 128,432,311 bp from pter
Size:
 5,777 bases      Orientation:
 plus strand

Proteins
for POU5F1B gene

(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: P5F1B_HUMAN, Q06416 (See protein sequence)
Recommended Name: Putative POU domain, class 5, transcription factor 1B  
Size: 359 amino acids; 38588 Da
Subcellular location: Nucleus
Caution: Could be the product of a pseudogene. Several pseudogenes of POU5F1 have been described on chromosomes 1, 3,
8, 10 and 12. Two of them, localized on chromosomes 8 and 10 have been shown to be preferentially transcribed in
cancer tissues and may be involved in the regulation of POU5F1 gene activity in carcinogenesis
Secondary accessions: D5K9V4 Q2VIK6 Q9BZV7 Q9BZV9

Explore the universe of human proteins at neXtProt for POU5F1B: NX_Q06416

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q06416

    • POU5F1B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001153014.1  
    ENSEMBL proteins: 
     ENSP00000419298   ENSP00000375557  

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    Browse Proteins at Uscn

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

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


    POU5F1B for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for POU5F1B gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    POU5F1B for domains           About GeneDecksing

    7 InterPro domains/families (see first 5):
     IPR010982 Lambda_DNA-bd_dom
     IPR013847 POU
     IPR000327 POU_specific
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like
     IPR015585 POU_dom_5

    Graphical View of Domain Structure for InterPro Entry Q06416

    ProtoNet protein and cluster: Q06416

    2 Blocks protein families:
    IPB000327 POU domain
    IPB013847 POU


    UniProtKB/Swiss-Prot: P5F1B_HUMAN, Q06416
    Similarity: Belongs to the POU transcription factor family. Class-5 subfamily
    Similarity: Contains 1 homeobox DNA-binding domain
    Similarity: Contains 1 POU-specific domain


    Function
    for POU5F1B gene

    (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: P5F1B_HUMAN, Q06416
    Function: Shows weak transcriptional activator activity

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity TAS1408763
    GO:0043565sequence-specific DNA binding IEA--


    POU5F1B for ontologies           About GeneDecksing



    Pathways & Interactions
    for POU5F1B gene

    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for POU5F1B

    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 NAS1408763


    POU5F1B for ontologies           About GeneDecksing



    Drugs & Compounds
    for POU5F1B gene

    (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 POU5F1B
    Search CenterWatch for drugs/clinical trials and news about POU5F1B / P5F1B 

    Transcripts
    for POU5F1B gene

    (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 POU5F1B gene: 
    NM_001159542.1  

    Unigene Cluster for POU5F1B:

    POU class 5 homeobox 1B
    Hs.450254  [show with all ESTs]
    Unigene Representative Sequence: DQ486513
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000465342 ENST00000391675(uc003ysf.3)

    miRNA
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    Inhib. RNA
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    OriGene siRNA: POU5F1B
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AF268615.1 AF268618.1 DQ486513.1 FM177969.1 FM177970.1 FM177971.1 FM177972.1 FM177973.1 
    FM177974.1 FM177975.1 FM177976.1 FM177977.1 FM177978.1 FM177979.1 FM177980.1 FM177981.1 
    FM177982.1 

    2 DOTS entries:

    DT.100791937  DT.75142423 

    24/32 AceView cDNA sequences (see all 32):

    AF268615 BM796771 AF268618 BX108223 BM817496 CB144537 BV207915 BV207913 
    BV199595 BV207917 BV207916 BV199596 CD049748 AA196616 CD247012 BM830060 
    AA232432 AA480280 CD048739 BM857157 BV199667 BG656494 CD049560 AA216743 

    GeneLoc Exon Structure


    Expression
    for POU5F1B gene

    (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

    POU5F1B 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

    POU5F1B expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 4 LifeMap Cells 
    NameCategory
    CyT49 (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Mesenchymal Progenitor Cells - Passage 2 (Differentiation of ...)
    Mesendoderm-like cells (Generation of mesend...)
    Matrigel embedded cells (Derivation of cardio...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See POU5F1B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for POU5F1B

    SOURCE GeneReport for Unigene cluster: Hs.450254
        SABiosciences Custom PCR Arrays for POU5F1B
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POU5F1B

    Orthologs
    for POU5F1B gene

    (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 POU5F1B gene from 2/6 species (see all 6)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 --
    		 54(a)
    		 1 → many
    		 GL343623.1(305954-310934)
    zebrafish
    (Danio rerio)    		 Actinopterygii pou5f16
    		 POU domain, class 5, transcription factor 1
    		 25(a)
    		 1 → many
    		 21(11887950-11892809)


    ENSEMBL Gene Tree for POU5F1B (if available)
    TreeFam Gene Tree for POU5F1B (if available) 

    Paralogs
    for POU5F1B gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for POU5F1B gene
    POU5F22  POU6F22  POU4F22  POU2F32  POU3F42  POU3F12  POU1F12  POU4F32  
    POU3F32  POU3F22  POU2F22  POU2F12  POU4F12  POU5F12  POU6F12  
    13 SIMAP similar genes for POU5F1B using alignment to 1 protein entry:     P5F1B_HUMAN:
    POU5F1P1    POU5F1    POU5F1P3    POU5F1P4    POU6F1    POU3F4
    POU5F2    POU1F1    POU2F2    POU2F1    POU3F2    POU3F1
    POU2F3

    POU5F1B for paralogs           About GeneDecksing



    Genomic Variants
    for POU5F1B gene

    (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

    10/105 NCBI SNPs in POU5F1B are shown (see all 105)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 8 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs796112401,2
    		C,--128425906(+) AAGCAG/AAGCAT 1 -- us2k11Minor allele frequency- A:0.01MN 156
    rs1419396211,2
    		--128425919(+) CCTCAA/GACGAT 1 -- us2k10--------
    rs800553061,2
    		F,--128426003(+) ACTTTT/ACTGCT 1 -- us2k11Minor allele frequency- A:0.04EA 120
    rs2017539801,2
    		--128426100(+) AGGTG-/GTGTACA 1 -- us2k10--------
    rs1488252941,2
    		C,--128426102(+) GTGGT-/ACAC  
                ACACA     		1 -- us2k10--------
    rs751701461,2
    		C,--128426103(+) GTGGTA/GCACAC 1 -- us2k10--------
    rs780982571,2
    		C,F,--128426196(+) GAAGTT/GAATGA 1 -- us2k12Minor allele frequency- G:0.05MN NA 246
    rs1507041771,2
    		--128426369(+) TATCTA/GTCTTA 1 -- us2k10--------
    rs8711351,2
    		C,F,A,H,--128426393(+) AGAACT/GTCAAA 1 -- us2k118Minor allele frequency- G:0.43NS EA NA WA MN CSA 1190
    rs1842002931,2
    		--128426433(+) GAGAAC/TGTTTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for POU5F1B (128426535 - 128432311 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for POU5F1B
         1 Inversion: 37296
    Human Gene Mutation Database (HGMD): POU5F1B

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for POU5F1B

    Disorders / Diseases
    for POU5F1B gene

    (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
    POU5F1B for disorders           About GeneDecksing

    13 diseases for POU5F1B:    About MalaCards
    gonadoblastoma    chronic lymphocytic leukemia    lymphocytic leukemia    teratoma
    embryonal carcinoma    colorectal cancer    prostate carcinoma    leukemia
    prostatitis    prostate cancer    carcinoma    neuronitis
    colorectal cancer 8

    1 disease from the University of Copenhagen DISEASES database for POU5F1B:
    Teratoma
    Human Genome Epidemiology (HuGE) Navigator: POU5F1B (1 document)

    Export disorders for POU5F1B gene to outside databases

    Publications
    for POU5F1B gene

    (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 POU5F1B gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with POU5F1B)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Human Oct3 gene family: cDNA sequences, alternative splicing, gene organization, chromosomal location, and expression at low levels in adult tissues. (PubMed id 1408763)1, 2, 3 Takeda J.... Bell G.I. (1992)
    2. The POU5F1P1 pseudogene encodes a putative protein similar to POU5F1 isoform 1. (PubMed id 18949397)1, 2 Panagopoulos I....Mertens F. (2008)
    3. Emergence of young human genes after a burst of retroposition in primates. (PubMed id 16201836)1, 2 Marques A.C.... Kaessmann H. (2005)
    4. Pharmacogenomic study of side-effects for antidepressa nt treatment options in STAR*D. (PubMed id 22041458)1 Clark S.L....van den Oord E.J. (2012)
    5. POU5F1P1, a putative cancer susceptibility gene, is o verexpressed in prostatic carcinoma. (PubMed id 20017164)1 Kastler S....Assum G. (2010)
    6. Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24 .1 influence chronic lymphocytic leukemia risk. (PubMed id 20062064)1 Crowther-Swanepoel D....Houlston R.S. (2010)
    7. Variation at 8q24 and 9p24 and risk of epithelial ova rian cancer. (PubMed id 20158306)1 White K.L....Goode E.L. (2010)
    8. Common variants in 8q24 are associated with risk for prostate cancer and tumor aggressiveness in men of European ancestry. (PubMed id 19562729)1 Pal P....Deka R. (2009)
    9. [Identification of the OCT4-pg1 retrogene and NANOG gene expression in the human embryonic eye] (PubMed id 18946985)1 Firsova N.V....Mitashov V.I. (2008)
    10. Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. (PubMed id 18372901)1 Tenesa A....Dunlop M.G. (2008)

    External Searches for POU5F1B gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing POU5F1B gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5462 HGNC: 9223 AceView: POU5F1P1 Ensembl:ENSG00000212993 euGenes: HUgn5462
    ECgene: POU5F1B H-InvDB: POU5F1B

    Other Databases showing POU5F1B gene

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    Specialized Databases showing POU5F1B gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    NameDescription
    PharmGKB entry for POU5F1B Pharmacogenomics, SNPs, Pathways

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