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

PRDM16 Gene

protein-coding   GIFtS: 54
GCID: GC01P003008

PR Domain Containing 16

  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 161 2     PR-Domain Zinc Finger Protein 161
Transcription Factor MEL11 2 3     CMD1LL2
MEL12 3 5     LVNC82
PFM132 3     PR Domain Zinc Finger Protein 162
MDS1/EVI1-Like Gene 12 3     KIAA16753
MDS1/EVI1-like1     PR Domain-Containing Protein 163

External Ids:    HGNC: 140001   Entrez Gene: 639762   Ensembl: ENSG000001426117   OMIM: 6055575   UniProtKB: Q9HAZ23   

Export aliases for PRDM16 gene to outside databases

Previous GC identifers: GC01P002423 GC01P002942 GC01P002559 GC01P002768 GC01P002280


(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 PRDM16 Gene:
The reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute
myeloid leukemia (AML). This gene is located near the 1p36.3 breakpoint and has been shown to be specifically
expressed in the t(1:3)(p36,q21)-positive MDS/AML. The protein encoded by this gene is a zinc finger
transcription factor and contains an N-terminal PR domain. The translocation results in the overexpression of a
truncated version of this protein that lacks the PR domain, which may play an important role in the pathogenesis
of MDS and AML. Alternatively spliced transcript variants encoding distinct isoforms have been reported.
(provided by RefSeq, Jul 2008)

GeneCards Summary for PRDM16 Gene: 
PRDM16 (PR domain containing 16) is a protein-coding gene. Diseases associated with PRDM16 include myelodysplastic syndromes, and dentin dysplasia. GO annotations related to this gene include sequence-specific DNA binding and SMAD binding. An important paralog of this gene is PRDM13.

UniProtKB/Swiss-Prot: PRD16_HUMAN, Q9HAZ2
Function: Binds DNA and functions as a transcriptional regulator. Functions in the differentiation of brown
adipose tissue (BAT) which is specialized in dissipating chemical energy in the form of heat in response to cold
or excess feeding while white adipose tissue (WAT) is specialized in the storage of excess energy and the control
of systemic metabolism. Together with CEBPB, regulates the differentiation of myoblastic precursors into brown
adipose cells. Functions also as a repressor of TGF-beta signaling. Isoform 4 may regulate granulocytes
differentiation

Gene Wiki entry for PRDM16 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004350.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PRDM16 gene promoter:
         E2F-3a   E2F-4   E2F-5   AP-4   IRF-1   E2F-2   MEF-2A   E2F-1   E2F   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPRDM16 promoter sequence
   Search SABiosciences Chromatin IP Primers for PRDM16

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PRDM16


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

Entrez Gene cytogenetic band: 1p36.23-p33   Ensembl cytogenetic band:  1p36.32   HGNC cytogenetic band: 1p36.23-p33

PRDM16 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRDM16 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P003008:  view genomic region     (about GC identifiers)

Start:
2,985,732 bp from pter      End:
3,355,185 bp from pter
Size:
369,454 bases      Orientation:
plus 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: PRD16_HUMAN, Q9HAZ2 (See protein sequence)
Recommended Name: PR domain zinc finger protein 16  
Size: 1276 amino acids; 140251 Da
Subunit: Interacts with CEBPA, CEBPB and CEBPD; the interaction is direct. Interacts with PPARG and PPARA;
controls brown adipocytes differentiation. Interacts with CTBP1 and CTBP2; represses the expression of
WAT-specific genes. Interacts with PPARGC1A and PPARGC1B; interaction with PPARGC1A or PPARGC1B activates the
transcription of BAT-specific gene. Interacts with SMAD3 (By similarity). Interacts with HDAC1, SKI, SMAD2 and
SMAD3; the interaction with SKI promotes the recruitment of SMAD3-HDAC1 complex on the promoter of TGF-beta
target genes
Subcellular location: Nucleus
Sequence caution: Sequence=BAB21766.2; Type=Erroneous initiation;
Secondary accessions: A6NHQ8 B1AJP7 B1AJP8 B1AJP9 B1WB48 Q8WYJ9 Q9C0I8
Alternative promoter usage, Alternative splicing: 4 isoforms:  Q9HAZ2-1   Q9HAZ2-2   Q9HAZ2-3   Q9HAZ2-4   (Produced by alternative promoter usage)

Explore the universe of human proteins at neXtProt for PRDM16: NX_Q9HAZ2

Explore proteomics data for PRDM16 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9HAZ2

  • PRDM16 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PRDM16 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_071397.3  NP_955533.2  

    ENSEMBL proteins: 
     ENSP00000426975   ENSP00000367643   ENSP00000421400   ENSP00000270722   ENSP00000476002  
     ENSP00000425796   ENSP00000367651   ENSP00000407968   ENSP00000405253  

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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PRDM16 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA19049980
    GO:0017053transcriptional repressor complex ISS--

    PRDM16 for ontologies           About GeneDecksing



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

    4 InterPro protein domains:
     IPR001214 SET_dom
     IPR015880 Znf_C2H2-like
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry Q9HAZ2

    ProtoNet protein and cluster: Q9HAZ2

    UniProtKB/Swiss-Prot: PRD16_HUMAN, Q9HAZ2
    Similarity: Contains 10 C2H2-type zinc fingers
    Similarity: Contains 1 SET domain


    PRDM16 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: PRD16_HUMAN, Q9HAZ2
    Function: Binds DNA and functions as a transcriptional regulator. Functions in the differentiation of brown
    adipose tissue (BAT) which is specialized in dissipating chemical energy in the form of heat in response to cold
    or excess feeding while white adipose tissue (WAT) is specialized in the storage of excess energy and the control
    of systemic metabolism. Together with CEBPB, regulates the differentiation of myoblastic precursors into brown
    adipose cells. Functions also as a repressor of TGF-beta signaling. Isoform 4 may regulate granulocytes
    differentiation

         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:0003676nucleic acid binding ----
    GO:0003677DNA binding ----
    GO:0003713transcription coactivator activity ISS--
    GO:0005515protein binding IPI19049980
    GO:0008270zinc ion binding ----
         
    PRDM16 for ontologies           About GeneDecksing


    Phenotypes:
         12 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Prdm16):
     cardiovascular system  craniofacial  digestive/alimentary  endocrine/exocrine gland  growth/size 
     hematopoietic system  immune system  mortality/aging  nervous system  respiratory system 
     skeleton  vision/eye 

    PRDM16 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PRDM16 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PRDM16

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PRDM16 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PRDM16 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRDM16


    (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 PRDM16

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/7 Interacting proteins for PRDM16 (Q9HAZ21, 3 ENSP000003676514) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SKIP127553, ENSP000003677974I2D: score=2 STRING: ENSP00000367797
    SMAD2Q157963, ENSP000002621604I2D: score=2 STRING: ENSP00000262160
    SMAD3P840223, ENSP000003329734I2D: score=2 STRING: ENSP00000332973
    MDM2Q009873, ENSP000004172814I2D: score=1 STRING: ENSP00000417281
    SUMO1ENSP000003760764STRING: ENSP00000376076
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA19049980
    GO:0006351transcription, DNA-dependent IEA--
    GO:0022008neurogenesis IEA--
    GO:0030512negative regulation of transforming growth factor beta receptor signaling pathway IMP19049980
    GO:0030853negative regulation of granulocyte differentiation IDA12816872

    PRDM16 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

    PRDM16 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PRDM16 (PRD16)

    1 Novoseek inferred chemical compound relationship for PRDM16 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 30 1 14656887 (1)

    Search CenterWatch for drugs/clinical trials and news about PRDM16 / PRD16

    (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 PRDM16 gene (2 alternative transcripts): 
    NM_022114.3  NM_199454.2  

    Unigene Cluster for PRDM16:

    PR domain containing 16
    Hs.99500  [show with all ESTs]
    Unigene Representative Sequence: NM_022114
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000511072 ENST00000607632 ENST00000378391 ENST00000514189 ENST00000270722
    ENST00000512462 ENST00000463591 ENST00000509860 ENST00000378389 ENST00000606170
    ENST00000378398 ENST00000441472(uc001akf.3 uc009vlh.3) ENST00000442529(uc001ake.3 uc001akc.3)

    miRNA
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    8/135 QIAGEN miScript miRNA Assays for microRNAs that regulate PRDM16 (see all 135):
    hsa-miR-411* hsa-miR-26a-2* hsa-miR-520f hsa-miR-199a-3p hsa-miR-128 hsa-miR-519a hsa-miR-200b hsa-miR-92b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PRDM16
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PRDM16

    Additional mRNA sequence: 

    AB051462.2 AB078876.1 AF294278.1 AK093853.1 AK094178.1 AK309078.1 BC110593.2 BC161614.1 

    2 DOTS entries:

    DT.70104838  DT.100745661 

    24/29 AceView cDNA sequences (see all 29):

    CB243404 BQ897896 AF294278 AB078876 AA992586 BX092842 NM_022114 NM_199454 
    AK093853 CD511819 AI278689 AX748338 AA969262 AI419259 AI623202 AB051462 
    BQ881704 BM193856 BF982577 BI554270 AK094178 AI655380 BU680328 BX499424 

    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

    PRDM16 expression in normal human tissues (normalized intensities)      PRDM16 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGATTGATAT
    PRDM16 Expression
    About this image


    PRDM16 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/9 selected tissues (see all 9) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 13 entries
             Sacral Brown Adipocyte Cells Sacral Brown Adipose Depot
             Spheres ( Directed differentiation of human pluripotent stem cells into brown adipocytes...
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             GABAergic Amacrine Cells Inner Nuclear Layer
             Human Retinal Pigment Epithelial Cells (HRPEpiC)   
             lens   
     
     Bone (Muscoskeletal System)
             HyStem+BMP4-induced E15 cells
     
     Cartilage (Muscoskeletal System)
             HyStem+BMP4-induced E15 cells
     
     Uncategorized (Uncategorized)
             PureStem Progenitor SM22

    See PRDM16 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PRDM16

    SOURCE GeneReport for Unigene cluster: Hs.99500

    UniProtKB/Swiss-Prot: PRD16_HUMAN, Q9HAZ2
    Tissue specificity: Expressed in uterus and kidney

        SABiosciences Expression via Pathway-Focused PCR Array including PRDM16: 
              Adipogenesis in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for PRDM16 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 Prdm161 , 5 PR domain containing 161, 5 86.78(n)1
    88.53(a)1
      4 (83.96 cM)5
    706731  NM_027504.31  NP_081780.31 
     1543161255 
    chicken
    (Gallus gallus)
    Aves PRDM161 PR domain containing 16 80.73(n)
    82.78(a)
      419388  XM_417551.3  XP_417551.3 
    lizard
    (Anolis carolinensis)
    Reptilia PRDM166
    --
    Uncharacterized protein
    89(a)
    78(a)
    1 ↔ 1
    possible ortholog
    AAWZ02041204(2890-4640)
    GL343629.1(93907-108254)
    zebrafish
    (Danio rerio)
    Actinopterygii wufc09g082 Transcribed sequence with strong similarity to protein more 83.49(n)    57046277 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG103483   -- 51(a)   37A1   --
    worm
    (Caenorhabditis elegans)
    Secernentea egl-436
    Protein EGL-43, isoform a
    25(a)
    1 → many
    II(9955186-9962244)


    ENSEMBL Gene Tree for PRDM16 (if available)
    TreeFam Gene Tree for PRDM16 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PRDM16 gene
    PRDM132  MECOM2  
    18/80 SIMAP similar genes for PRDM16 using alignment to 7 protein entries:     PRD16_HUMAN (see all proteins) (see all similar genes):
    kr-znf3    ZFS-5    ZNF72    DKFZp686N0199    ZFS-4    ZSCAN31
    EVI1    ZNF55    ZNF78L1    MECOM    GZF1    KLF1
    ZFP64    ZIC1    ZNF75A    DKFZp686O1631    zf30    ZNF

    PRDM16 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

    10/9681 SNPs in PRDM16 are shown (see all 9681)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1456320081,2
    Cuntested13348198(+) CCACCA/C/TCTTCA 4 P L mis10--------
    rs3724081021,2
    C--2989653(+) CGACA-/TCCT  
      GGCCCC
    TCCTG
    2 -- int10--------
    rs1147526591,2
    F--2997354(+) GGTGGG/ATAAAG 2 -- us2k11Minor allele frequency- A:0.02WA 118
    rs27426901,2
    C,F--3000809(-) AAACCG/TCCGCG 2 -- int12Minor allele frequency- T:0.23NA 122
    rs1145264611,2
    F--3001165(+) GTGTGC/TACCGC 2 -- int11Minor allele frequency- T:0.09WA 118
    rs125634581,2
    C,F,H--3001364(+) TCCGCC/TGGCTC 2 -- int11Minor allele frequency- T:0.16EA 120
    rs9095101,2
    C,F,H--3001424(-) CACCAG/CTTCTG 2 -- int118Minor allele frequency- C:0.35NA EA WA MN CSA 1227
    rs1498076141,2
    C--3001426(+) GAAGTA/GGTGCC 2 -- int10--------
    rs1457435551,2
    --3001442(+) GCCATC/GTGGCC 2 -- int10--------
    rs1901509111,2
    --3001895(+) GCTGGA/GCACAG 2 -- int10--------

    HapMap Linkage Disequilibrium report for PRDM16 (2985732 - 3235732 bp, first 250kb of PRDM16)

    Structural Variations
         Database of Genomic Variants (DGV) 10/96 variations for PRDM16 (see all 96):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2724805CNV Deletion23290073
    esv2657185CNV Deletion23128226
    esv2725473CNV Deletion23290073
    esv2665020CNV Deletion23128226
    esv2726695CNV Deletion23290073
    esv2726140CNV Deletion23290073
    esv2725917CNV Deletion23290073
    esv2724916CNV Deletion23290073
    esv2726806CNV Deletion23290073
    esv2582992CNV Deletion19546169

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605557    OMIM disorders: --

    UniProtKB/Swiss-Prot: PRD16_HUMAN, Q9HAZ2
  • Note=A chromosomal aberration involving PRDM16 is found in myelodysplastic syndrome (MDS) and acute
    myeloid leukemia (AML). Reciprocal translocation t(1;3)(p36;q21). Isoform 4 is specifically expressed in adult
    T-cell leukemia

  • 14 diseases for PRDM16:    About MalaCards
    myelodysplastic syndromes    dentin dysplasia    myeloid leukemia    acute myeloid leukemia
    chronic myelomonocytic leukemia    chronic granulomatous disease    leukemia    adult t-cell leukemia
    migraine    chronic myeloid leukemia    t-cell leukemia    non-hodgkin lymphoma
    hodgkin's lymphoma    gastric cancer


    PRDM16 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for PRDM16 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myelodysplastic syndromes 73.2 1 14585371 (1)
    leukemogenesis 65.7 1 16015645 (1)
    leukemia 45.2 9 12816872 (2), 11050005 (2), 16015645 (1), 14712237 (1) (see all 5)
    chromosomal aberrations 39.8 1 14704036 (1)

    Genetic Association Database (GAD): PRDM16
    Human Genome Epidemiology (HuGE) Navigator: PRDM16 (4 documents)

    Export disorders for PRDM16 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 PRDM16 gene, integrated from 9 sources (see all 49):
    (articles sorted by number of sources associating them with PRDM16)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel gene, MEL1, mapped to 1p36.3 is highly homologous to the MDS1/EVI1 gene and is transcriptionally activated in t(1;3)(p36;q21)- positive leukemia cells. (PubMed id 11050005)1, 2, 3, 9 Mochizuki N.... Morishita K. (2000)
    2. Breakpoints at 1p36.3 in three MDS/AML(M4) patients with t(1;3)(p36;q21) occur in the first intron and in the 5' region of MEL1. (PubMed id 12557231)1, 2, 9 Xinh P.T.... Sato Y. (2003)
    3. A novel EVI1 gene family, MEL1, lacking a PR domain (MEL1S) is expressed mainly in t(1;3)(p36;q21)-positive AML and blocks G-CSF- induced myeloid differentiation. (PubMed id 12816872)1, 2, 9 Nishikata I.... Morishita K. (2003)
    4. Aberrant expression of the MEL1S gene identified in association with hypomethylation in adult T-cell leukemia cells. (PubMed id 14656887)1, 2, 9 Yoshida M....Matsuoka M. (2004)
    5. Genome-wide association study reveals three susceptib ility loci for common migraine in the general population. (PubMed id 21666692)1, 4 Chasman D.I....Kurth T. (2011)
    6. 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)
    7. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (2010)
    8. Genome-wide association of lipid-lowering response to statins in combined study populations. (PubMed id 20339536)1, 4 Barber M.J....Krauss R.M. (2010)
    9. Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (2009)
    10. SKI and MEL1 cooperate to inhibit transforming growth factor-beta signal in gastric cancer cells. (PubMed id 19049980)1, 2 Takahata M....Imamura T. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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)
    About This Section
    Entrez Gene: 63976 HGNC: 14000 AceView: PRDM16 Ensembl:ENSG00000142611 euGenes: HUgn63976
    ECgene: PRDM16 H-InvDB: PRDM16

    (According to HUGE)
    About This Section
    HUGE: KIAA1675

    (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 PRDM16 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PRDM16 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 PRDM16 gene:
    Search GeneIP for patents involving PRDM16

    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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