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PRDM16 Gene

protein-coding   GIFtS: 55
GCID: GC01P003008

PR Domain Containing 16

  See PRDM16-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
PR Domain Containing 161 2     LVNC82 5
Transcription Factor MEL11 2 3     MDS1/EVI1-like1
MEL12 3 5     PR-Domain Zinc Finger Protein 161
PFM132 3     PR Domain Zinc Finger Protein 162
MDS1/EVI1-Like Gene 12 3     KIAA16753
CMD1LL2 5     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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 cardiomyopathy, dilated, 1ll, and left ventricular noncompaction 8. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   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 Chromatin IP Primers for PRDM16

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: 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
Sequence caution: Sequence=BAB21766.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PRDM16 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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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    Cloud-Clone Corp. Proteins for PRDM16

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

    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


    Find genes that share domains with PRDM16           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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): Selected molecular function terms (see all 7):    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:0043565sequence-specific DNA binding IDA12816872
         
    Find genes that share ontologies with PRDM16           About GenesLikeMe


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

    Find genes that share phenotypes with PRDM16           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PRDM16
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PRDM16
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    miRTarBase miRNAs that target PRDM16:
    hsa-mir-133a-3p (MIRT007383), hsa-mir-346 (MIRT042704), hsa-mir-615-3p (MIRT040152), hsa-mir-133b (MIRT007382), hsa-mir-221-3p (MIRT046957), hsa-mir-96-5p (MIRT027926)

    Block miRNA regulation of human, mouse, rat PRDM16 using miScript Target Protectors
    Selected qRT-PCR 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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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PRDM16

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRDM16


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PRD16_HUMAN, Q9HAZ2: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    mitochondrion1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with PRDM16           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including PRDM16: 
              Adipogenesis in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PRDM16

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

    Selected 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): Selected biological process terms (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-templated IEA--
    GO:0022008neurogenesis IEA--
    GO:0030512negative regulation of transforming growth factor beta receptor signaling pathway IMP19049980
    GO:0030853negative regulation of granulocyte differentiation IDA12816872

    Find genes that share ontologies with PRDM16           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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)



    Find genes that share compounds with PRDM16           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for 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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    Selected qRT-PCR 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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    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 

    Selected AceView cDNA sequences (see all 29):

    NM_199454 AA992586 BX092842 CB243404 BQ897896 AF294278 AB078876 NM_022114 
    AK094178 BF982577 BQ881704 AI278689 BM193856 AK093853 AA969262 CD511819 
    AB051462 AI419259 BI554270 BU680328 AI655380 AI623202 AX748338 AW237076 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PRDM16 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 9) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 14 entries
             Sacral Brown Adipocyte Cells Sacral Brown Adipose Depot
             Brown adipocyte-like cells
     
     Bone (Muscoskeletal System)
             HyStem+BMP4-induced E15 cells
     
     Cartilage (Muscoskeletal System)
             HyStem+BMP4-induced E15 cells
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     NULL (Uncategorized)
             Spheres
    PRDM16 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PRDM16 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.99500

    UniProtKB/Swiss-Prot: PRD16_HUMAN, Q9HAZ2
    Tissue specificity: Expressed in uterus and kidney. Expressed in both cardiomyocytes and interstitial cells

        Pathway & Disease-focused RT2 Profiler PCR Array including PRDM16: 
              Adipogenesis in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRDM16

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PRDM16 gene from Selected species (see all 15)    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 80.65(n)
    82.46(a)
      419388  XM_417551.4  XP_417551.3 
    lizard
    (Anolis carolinensis)
    Reptilia PRDM166
    PR domain containing 16
    90(a)
    1 ↔ 1
    AAWZ02041204(2890-4640)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia prdm161 PR domain containing 16 71.74(n)
    75.81(a)
      100485690  XM_002938492.2  XP_002938538.1 
    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 (egl-43) mRNA, complete ...
    30(a)
    1 → many
    II(9955186-9962244) WBGene00001207
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MSN26
    MSN46
    Transcriptional activator related to Msn4p; activa...
    Transcriptional activator related to Msn2p; activa...
    16(a)
    15(a)
    many ↔ many
    many ↔ many
    XIII(344403-346517) YMR037C
    XI(323228-325120) YKL062W


    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)
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    Paralogs for PRDM16 gene
    PRDM132  MECOM2  
    Selected SIMAP similar genes for PRDM16 using alignment to 8 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

    Find genes that share paralogs with PRDM16           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PRDM16 (see all 9686)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0702124
    Cardiomyopathy, dilated 1LL (CMD1LL)4--see VAR_0702122 E K mis40--------
    VAR_0702144
    Left ventricular non-compaction 8 (LVNC8)4--see VAR_0702142 N S mis40--------
    VAR_0702154
    Cardiomyopathy, dilated 1LL (CMD1LL)4--see VAR_0702152 L P mis40--------
    VAR_0702164
    Cardiomyopathy, dilated 1LL (CMD1LL)4--see VAR_0702162 V M mis40--------
    VAR_0702134
    Cardiomyopathy, dilated 1LL (CMD1LL)4--see VAR_0702132 P L mis40--------
    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

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

    Structural Variations
         Database of Genomic Variants (DGV) Selected 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

    Human Gene Mutation Database (HGMD): PRDM16
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PRDM16
    DNA2.0 Custom Variant and Variant Library Synthesis for PRDM16

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605557   
    OMIM disorders: 615373  
    UniProtKB/Swiss-Prot: PRD16_HUMAN, Q9HAZ2
  • Left ventricular non-compaction 8 (LVNC8) [MIM:615373]: A disease due to an arrest of myocardial
    morphogenesis. It is characterized by a hypertrophic left ventricle with deep trabeculations and with poor
    systolic function, with or without associated left ventricular dilation. In some cases, it is associated with
    other congenital heart anomalies. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Cardiomyopathy, dilated 1LL (CMD1LL) [MIM:615373]: A disorder characterized by ventricular dilation and
    impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of
    premature death. Note=The disease is caused by mutations affecting the gene represented in this entry
  • 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

  • 7 diseases for PRDM16:    
    About MalaCards
    cardiomyopathy, dilated, 1ll    left ventricular noncompaction 8    left ventricular noncompaction 1, with or without congenital heart defects    1p36 deletion syndrome
    cardiomyopathy, dilated, 1w    myeloid leukemia    acute myeloid leukemia


    Find genes that share disorders with PRDM16           About GenesLikeMe

    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)
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    PubMed articles for PRDM16 gene, integrated from 10 sources (see all 52):
    (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. (Blood 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. (Genes Chromosomes Cancer 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. (Blood 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. (Blood 2004)
    5. Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. (PubMed id 23768516)1, 2 Arndt A.K....Klaassen S. (Am. J. Hum. Genet. 2013)
    6. Genome-wide association study reveals three susceptibility loci for common migraine in the general population. (PubMed id 21666692)1, 4 Chasman D.I....Kurth T. (Nat. Genet. 2011)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    8. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    9. Genome-wide association of lipid-lowering response to statins in combined study populations. (PubMed id 20339536)1, 4 Barber M.J....Krauss R.M. (PLoS ONE 2010)
    10. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (Gut 2009)

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

    (According to HUGE)
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    HUGE: KIAA1675

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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