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

PRDM5 Gene

protein-coding   GIFtS: 54
GCID: GC04M121613

PR Domain Containing 5

  See 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)
About This Section

Aliases
PR Domain Containing 51 2
PFM22 3
BCS22
PR Domain Zinc Finger Protein 52
EC 2.1.1.-3
PR Domain-Containing Protein 53

External Ids:    HGNC: 93491   Entrez Gene: 111072   Ensembl: ENSG000001387387   OMIM: 6141615   UniProtKB: Q9NQX13   

Export aliases for PRDM5 gene to outside databases

Previous GC identifers: GC04M122540 GC04M121895 GC04M122009 GC04M122074 GC04M121973 GC04M117343


(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 PRDM5 Gene:
The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a
PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved
in cell differentiation and tumorigenesis. (provided by RefSeq, Jul 2008)

GeneCards Summary for PRDM5 Gene: 
PRDM5 (PR domain containing 5) is a protein-coding gene. Diseases associated with PRDM5 include brittle cornea syndrome 2, and type vi ehlers-danlos syndrome. GO annotations related to this gene include transcription regulatory region sequence-specific DNA binding and sequence-specific DNA binding.

UniProtKB/Swiss-Prot: PRDM5_HUMAN, Q9NQX1
Function: Sequence-specific DNA-binding transcription factor. Represses transcription at least in part by
recruitment of the histone methyltransferase EHMT2/G9A and histone deacetylases such as HDAC1. Regulates
hematopoiesis-associated protein-coding and microRNA (miRNA) genes. May regulate the expression of proteins
involved in extracellular matrix development and maintenance, including fibrillar collagens, such as COL4A1 and
COL11A1, connective tissue components, such as HAPLN1, and molecules regulating cell migration and adhesion,
including EDIL3 and TGFB2. May caused G2/M arrest and apoptosis in cancer cells




(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_000004.11  NT_016354.19  NC_018915.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PRDM5 gene promoter:
         LHX3b/Lhx3b   Pax-2   Pax-2a   NF-AT   NF-AT2   Pax-2b   NRF-2   LHX3a/Lhx3a   NF-AT1   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPRDM5 promoter sequence
   Search SABiosciences Chromatin IP Primers for PRDM5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PRDM5


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

Entrez Gene cytogenetic band: 4q25-q26   Ensembl cytogenetic band:  4q27   HGNC cytogenetic band: 4q25-q26

PRDM5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRDM5 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M121613:  view genomic region     (about GC identifiers)

Start:
121,606,074 bp from pter      End:
121,844,025 bp from pter
Size:
237,952 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: PRDM5_HUMAN, Q9NQX1 (See protein sequence)
Recommended Name: PR domain zinc finger protein 5  
Size: 630 amino acids; 73090 Da
Subunit: Interacts with EHMT2/G9A, GFI1 and HDAC1
Subcellular location: Nucleus
Secondary accessions: Q0VAJ0 Q6NXQ7
Alternative splicing: 3 isoforms:  Q9NQX1-1   Q9NQX1-2   Q9NQX1-3   

Explore the universe of human proteins at neXtProt for PRDM5: NX_Q9NQX1

Explore proteomics data for PRDM5 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NQX1

  • PRDM5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PRDM5 Protein Expression
    REFSEQ proteins: NP_061169.2  
    ENSEMBL proteins: 
     ENSP00000264808   ENSP00000404832   ENSP00000422309   ENSP00000424861   ENSP00000377955  

    Human Recombinant Protein Products for PRDM5: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PRDM5 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA17636019

    PRDM5 for ontologies           About GeneDecksing



    PRDM5 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for PRDM5 
    Cloud-Clone Corp. CLIAs for PRDM5


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ZNF: Zinc fingers, C2H2-type

    5/6 InterPro protein domains (see all 6):
     IPR001214 SET_dom
     IPR015880 Znf_C2H2-like
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR017125 Znf_PRDM5
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry Q9NQX1

    ProtoNet protein and cluster: Q9NQX1

    UniProtKB/Swiss-Prot: PRDM5_HUMAN, Q9NQX1
    Similarity: Belongs to the class V-like SAM-binding methyltransferase superfamily
    Similarity: Contains 16 C2H2-type zinc fingers
    Similarity: Contains 1 SET domain


    PRDM5 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: PRDM5_HUMAN, Q9NQX1
    Function: Sequence-specific DNA-binding transcription factor. Represses transcription at least in part by
    recruitment of the histone methyltransferase EHMT2/G9A and histone deacetylases such as HDAC1. Regulates
    hematopoiesis-associated protein-coding and microRNA (miRNA) genes. May regulate the expression of proteins
    involved in extracellular matrix development and maintenance, including fibrillar collagens, such as COL4A1 and
    COL11A1, connective tissue components, such as HAPLN1, and molecules regulating cell migration and adhesion,
    including EDIL3 and TGFB2. May caused G2/M arrest and apoptosis in cancer cells

         Enzyme Number (IUBMB): EC 2.1.1.-1

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000976transcription regulatory region sequence-specific DNA binding IEA--
    GO:0005515protein binding IPI17636019
    GO:0008168methyltransferase activity IEA--
    GO:0008270zinc ion binding ----
    GO:0043565sequence-specific DNA binding IDA17636019
         
    PRDM5 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Prdm5):
     skeleton 

    PRDM5 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PRDM5 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PRDM5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PRDM5 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PRDM5 

    miRNA
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    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate PRDM5 (see all 9):
    hsa-miR-3934 hsa-miR-136 hsa-miR-125a-3p hsa-miR-1237 hsa-miR-764 hsa-miR-4314 hsa-miR-129-3p hsa-miR-450b-5p
    SwitchGear 3'UTR luciferase reporter plasmidPRDM5 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRDM5


    (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 PRDM5

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/9 Interacting proteins for PRDM5 (Q9NQX11, 3 ENSP000002648084) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206376Q96KQ71, 3EBI-4292031,EBI-744366 I2D: score=1 
    ENSG00000232045Q96KQ71, 3EBI-4292031,EBI-744366 I2D: score=1 
    ENSG00000236759Q96KQ71, 3EBI-4292031,EBI-744366 I2D: score=1 
    ENSG00000238134Q96KQ71, 3EBI-4292031,EBI-744366 I2D: score=1 
    EHMT2Q96KQ71, 3, ENSP000003646874EBI-4292031,EBI-744366 I2D: score=1 STRING: ENSP00000364687
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle IMP17636019
    GO:0006351transcription, DNA-dependent IEA--
    GO:0016575histone deacetylation IMP17636019
    GO:0045892negative regulation of transcription, DNA-dependent IDA17636019
    GO:0051567histone H3-K9 methylation IDA17636019

    PRDM5 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 PRDM5

    Search CenterWatch for drugs/clinical trials and news about PRDM5

    (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 PRDM5 gene: 
    NM_018699.2  

    Unigene Clusters for PRDM5:

    PR domain containing 5
    Hs.666782  [show with all ESTs], Hs.669312  [show with all ESTs]
    Unigene Representative Sequences: NM_018699, BC030136
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000513741 ENST00000264808(uc003idn.3 uc003ido.3 uc010ine.3)
    ENST00000428209 ENST00000515109 ENST00000505484 ENST00000506065 ENST00000503661
    ENST00000502409 ENST00000512845(uc010inf.3) ENST00000507611 ENST00000394435(uc003idp.1)
    ENST00000505033
    miRNA
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    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate PRDM5 (see all 9):
    hsa-miR-3934 hsa-miR-136 hsa-miR-125a-3p hsa-miR-1237 hsa-miR-764 hsa-miR-4314 hsa-miR-129-3p hsa-miR-450b-5p
    SwitchGear 3'UTR luciferase reporter plasmidPRDM5 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for PRDM5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PRDM5
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PRDM5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PRDM5
    Sirion Biotech Customized lentivirus for stable overexpression of PRDM5 
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    OriGene qSTAR qPCR primer pairs in human, mouse for PRDM5
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PRDM5

    Additional mRNA sequence: BC030136.2 

    10 DOTS entries:

    DT.303732  DT.75161413  DT.121228895  DT.75125435  DT.121228891  DT.100681756  DT.101966241  DT.40296482 
    DT.97832230  DT.40129404 

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

    AI521783 CB852042 NM_018699 AI810960 AA424447 BX498792 BX504031 BX498497 
    CA394675 AL710704 BX646150 BQ899370 AI684820 AK056352 BX955944 BG717199 
    AA917968 CD300170 BX504012 AV710759 BC066942 AA884744 AF272897 AW341546 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PRDM5 expression in normal human tissues (normalized intensities)      PRDM5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCAGCATTT
    PRDM5 Expression
    About this image


    PRDM5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/33 selected tissues (see all 33) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Adult Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             cd49a+ cells   

    See PRDM5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PRDM5

    SOURCE GeneReport for Unigene clusters: Hs.666782 Hs.669312

    UniProtKB/Swiss-Prot: PRDM5_HUMAN, Q9NQX1
    Tissue specificity: Widely expressed with highest levels in colon and ovary. Tends to be silenced in breast,
    colorectal, gastric and liver cancer tissues

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRDM5

    (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 animals.

    Orthologs for PRDM5 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Prdm51 , 5 PR domain containing 51, 5 87.76(n)1
    92.65(a)1
      6 (30.32 cM)5
    707791  NM_027547.21  NP_081823.21 
     657789885 
    chicken
    (Gallus gallus)
    Aves PRDM51 PR domain containing 5 81.69(n)
    85.71(a)
      422673  XM_420628.3  XP_420628.3 
    lizard
    (Anolis carolinensis)
    Reptilia PRDM56
    Uncharacterized protein
    80(a)
    1 ↔ 1
    5(139479766-139576718)
    zebrafish
    (Danio rerio)
    Actinopterygii prdm51 PR domain containing 5 70.29(n)
    78.59(a)
      432371  NM_001002301.1  NP_001002301.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta su(Hw)3 DNA binding 33(a)
    (best of 5)
      3 88B3   --
    worm
    (Caenorhabditis elegans)
    Secernentea C27A2.76
    Protein C27A2.7
    23(a)
    1 ↔ 1
    II(5069764-5071367)


    ENSEMBL Gene Tree for PRDM5 (if available)
    TreeFam Gene Tree for PRDM5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PRDM5 gene
    18/357 SIMAP similar genes for PRDM5 using alignment to 4 protein entries:     PRDM5_HUMAN (see all proteins) (see all similar genes):
    A-328A3.4    ZNF55    kr-znf3    ZFS-2    ZFS-5    ZNF72
    ZNF663    ZNF    DKFZp686M04222    ZNF184    ZNF22    ZNF239
    ZNF502    HZF16    ZNF844    DKFZp547L155    DKFZp666C237    ZNF16

    PRDM5 for paralogs           About GeneDecksing



    (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

    10/4899 SNPs in PRDM5 are shown (see all 4899)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0663934
    Brittle cornea syndrome 2 (BCS2)4--see VAR_0663932 Y C mis40--------
    rs1414917961,2
    Cuntested1121603219(+) GTATAC/G/TGGACA 1 -- int10--------
    rs343817791,2
    C--117346071(+) ATGTG-/A/GAGCTA 1 -- int10--------
    rs757970371,2
    C--117348635(-) ACGATA/GGTGTT 1 -- int10--------
    rs358981121,2
    --117349751(+) CTATGC/TAGCTA 1 -- int10--------
    rs58614841,2
    C--117354342(+) AGATC-/TTTTTT 1 -- int1 trp30--------
    rs351560871,2
    --117354348(+) TTTTTC/TTTTTT 1 -- int10--------
    rs715970921,2
    C--117355584(+) AAGGG-/AAAAAA 1 -- int11Minor allele frequency- A:0.50NA 2
    rs715970931,2
    C--117358482(+) CACAG-/AT/TA 
            
    ACACA
    1 -- int11NA 2
    rs2014679201,2
    C--117365329(+) AAAAA-/AACAAAAA 1 -- cds10--------

    HapMap Linkage Disequilibrium report for PRDM5 (121606074 - 121844025 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/12 variations for PRDM5 (see all 12):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2728247CNV Deletion23290073
    esv2728248CNV Deletion23290073
    esv1970766CNV Deletion18987734
    esv2472537CNV Deletion19546169
    esv2728246CNV Deletion23290073
    nsv4491CNV Insertion18451855
    nsv507192CNV Insertion20534489
    dgv5701n71CNV Loss21882294
    nsv292623CNV Loss16902084
    nsv4490CNV Loss18451855


    Human Gene Mutation Database (HGMD): PRDM5
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PRDM5
    DNA2.0 Custom Variant and Variant Library Synthesis for PRDM5

    (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
    OMIM gene information: 614161    OMIM disorders: --

    UniProtKB/Swiss-Prot: PRDM5_HUMAN, Q9NQX1
  • Brittle cornea syndrome 2 (BCS2) [MIM:614170]: A disorder characterized by extreme corneal thinning
    resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of
    the skin, and hypermobile joints. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 9 diseases for PRDM5:    About MalaCards
    brittle cornea syndrome 2    type vi ehlers-danlos syndrome    ehlers-danlos syndrome    keratoconus
    myopia    alcohol dependence    alcoholism    gastric cancer
    cervicitis

    1 disease from the University of Copenhagen DISEASES database for PRDM5:
    Ehlers-Danlos syndrome

    PRDM5 for disorders           About GeneDecksing

    Genetic Association Database (GAD): PRDM5
    Human Genome Epidemiology (HuGE) Navigator: PRDM5 (2 documents)

    Export disorders for PRDM5 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 PRDM5 gene, integrated from 9 sources (see all 19):
    (articles sorted by number of sources associating them with PRDM5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PRDM5 is silenced in human cancers and has growth suppressive activities. (PubMed id 15077163)1, 2, 9 Deng Q. and Huang S. (2004)
    2. Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. (PubMed id 21664999)1, 2 Burkitt Wright E.M....Black G.C. (2011)
    3. A systematic gene-based screen of chr4q22-q32 identif ies association of a novel susceptibility gene, DKK2, with the quantitative tra it of alcohol dependence symptom counts. (PubMed id 20332099)1, 4 Kalsi G....Riley B.P. (2010)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. Genome-wide association with diabetes-related traits in the Framingham Heart Study. (PubMed id 17903298)1, 4 Meigs J.B....Dupuis J. (2007)
    6. Epigenetic regulation of protein-coding and microRNA genes by the Gfi1-interacting tumor suppressor PRDM5. (PubMed id 17636019)1, 2 Duan Z....Horwitz M.S. (2007)
    7. PRDM5 identified as a target of epigenetic silencing in colorectal and gastric cancer. (PubMed id 17699856)1, 2 Watanabe Y....Tokino T. (2007)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (2012)
    10. The epigenetic modifier PRDM5 functions as a tumor sup pressor through modulating WNT/b-catenin signaling and is frequently silenced in multiple tumors. (PubMed id 22087297)1 Shu X.S....Tao Q. (2011)

    (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: 11107 HGNC: 9349 AceView: PRDM5 Ensembl:ENSG00000138738 euGenes: HUgn11107
    ECgene: PRDM5 H-InvDB: PRDM5

    (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 PRDM5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PRDM5 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
    Patent Information for PRDM5 gene:
    Search GeneIP for patents involving PRDM5

    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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