Property Summary

NCBI Gene PubMed Count 51
PubMed Score 197.83
PubTator Score 96.25

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
osteosarcoma -2.175 1.3e-02
group 4 medulloblastoma -2.400 1.1e-04
medulloblastoma, large-cell -2.700 6.4e-04
non-small cell lung cancer -1.680 2.1e-18
atypical teratoid/rhabdoid tumor 1.600 7.6e-03
pilocytic astrocytoma -1.300 1.2e-02
posterior fossa group A ependymoma -1.900 9.8e-05
lung adenocarcinoma -1.400 2.3e-03

Gene RIF (35)

PMID Text
26701852 High PRDM16 expression is associated with astrocytoma.
26684393 Results show that PRDM16 overexpression was highly recurrent in de novo paediatric AML and is associated with adverse outcome
26559765 Our results suggest that K568 SUMOylation of sPRDM16 plays an important role in the progression of acute myeloid leukemia.
25662275 PRDM16 might contribute to maintain adipose tissue "white fat" gene expression profile and systemic metabolic homeostasis.
25644605 MED1 is required for optimal PRDM16-induced Ucp1 expression
25567132 EVI1 and MEL1 are homolog genes whose transcriptional activations by chromosomal translocations have roles in Japanese pediatric acute myeloid leukemia
25035420 Three novel loci were identified in East Asians with cardiac arrhythmias: rs2483280 (PRDM16 locus) and rs335206 (PRDM6 locus) were associated with QRS duration; and rs17026156 (SLC8A1 locus) correlated with PR interval.
24966940 PRDM2, PRDM5, PRDM16 promoters are methylated and their expression is suppressed in lung cancer cells.
24863034 Genetic analyses uncovered the importance of the PRDM16 gene in the regulation of lean body mass.
24717670 Mutations in gene encoding the transcriptional co-activator PRDM16 may be a cause of left-ventricular noncompaction and dilated cardiomyopathy.
24674449 An association between PRDM16 rs2651899 SNP and migraine in a Swedish case-control study.
24327154 No association between the four polymorphisms of the PRDM16 gene with essential hypertension.
24021092 The rs2651899 variant in PRDM16 plays a role in Chinese common migraine susceptibility.
23768516 Mutation of PRDM16 causes the cardiomyopathy in 1p36 deletion syndrome as well as a proportion of nonsyndromic left ventricular noncompaction cardiomyopathy and dilated cardiomyopathy.
23524569 Single nucleotide polymorphism Rs2236518 is associated with body mass index in the young Chinese males (using QTDT), and the older Chinese males (using GLM-ANOVA).
23454374 High PRDM16 expression is associated with pheochromocytoma.
22939622 Data identify Prdm3 and Prdm16 as H3K9me1 methyltransferases and expose a functional framework in which anchoring to the nuclear periphery helps maintain the integrity of mammalian heterochromatin.
22383139 genetic association studies in a Chinese Xinjiang Uygur population: Studies suggest that commonly occurring SNP in PRDM16 (rs2236518) shows a significant negative association with metabolic syndrome in a multivariable logistic regression analysis.
22072275 genome-wide association studies have successfully identified four new genetic variants associated with migraine in the LRP1, TRPM8, and PRDM16 genes
22050763 Survival data suggest that patients with AML/MDS and PRDM16 translocations have a poor prognosis despite a simple karyotype and a median age of 65 years.
22039459 Fluorescence in situ hybridization was performed to characterize 81 cases of myeloid and lymphoid malignancies with cytogenetic 1p36 alterations not affecting the PRDM16 locus
20634891 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19641492 data indicate that the PRDM16-C/EBP-beta complex initiates brown fat formation from myoblastic precursors
19567523 PRDM16 and PGC-1 alpha expression was 2-fold greater in epicardial than sc fat.
19285866 PRDM16 controls a bidirectional cell fate switch between skeletal myoblasts and brown adipocytes.
19240061 Observational study of gene-disease association. (HuGE Navigator)
19049980 SKI and MEL1 knockdown synergistically restored TGF-beta responsiveness in MKN28 cells and reduced tumor growth in vivo
18767145 array CGH performed on CD34(+) cells revealed cryptic partial deletions of PRDM16.
18202228 RUNX1 DNA-binding mutations and RUNX1-PRDM16 cryptic fusions in BCR-ABL+ leukemias are frequently associated with secondary trisomy 21 and may contribute to clonal evolution and imatinib resistance
16598304 A 3' RACE experiments followed by sequence-specific RT-PCR resulted in the identification of the PRDM16 gene as a novel fusion partner of the RUNX1 gene in a patient with rare t(1;21)(p36;q22).
16582916 Correction opf X-linked chronic granulomatous disease by gene therapy was augmented by insertional activation of PRDM16.
14656887 Aberrant gene expression associated with DNA hypomethylation is implicated in leukemogenesis of adult T-cell leukemia.
12816872 structure, expression pattern, and function of MEL1 in leukemia cells; overexpression of the zinc finger protein lacking the PR domain (EVI1 and MEL1S)is likely one of the causative factors in the pathogenesis of myeloid leukemia.
12557231 Breakpoints occurring in the first intron and in the 5' region of the MEL1 gene associated with the t(1;3)(p36;q21) translocation have been found in three myelodysplastic syndrome/acute myelogenous leukemia patients.

AA Sequence

MRSKARARKLAKSDGDVVNNMYEPNRDLLASHSAEDEAEDSAMSPIPVGPPSPFPTSEDFTPKEGSPYEA      1 - 70
PVYIPEDIPIPADFELRESSIPGAGLGVWAKRKMEAGERLGPCVVVPRAAAKETDFGWEQILTDVEVSPQ     71 - 140
EGCITKISEDLGSEKFCVDANQAGAGSWLKYIRVACSCDDQNLTMCQISEQIYYKVIKDIEPGEELLVHV    141 - 210
KEGVYPLGTVPPGLDEEPTFRCDECDELFQSKLDLRRHKKYTCGSVGAALYEGLAEELKPEGLGGGSGQA    211 - 280
HECKDCERMFPNKYSLEQHMVIHTEEREYKCDQCPKAFNWKSNLIRHQMSHDSGKRFECENCVKVFTDPS    281 - 350
NLQRHIRSQHVGARAHACPDCGKTFATSSGLKQHKHIHSTVKPFICEVCHKSYTQFSNLCRHKRMHADCR    351 - 420
TQIKCKDCGQMFSTTSSLNKHRRFCEGKNHYTPGGIFAPGLPLTPSPMMDKAKPSPSLNHASLGFNEYFP    421 - 490
SRPHPGSLPFSTAPPTFPALTPGFPGIFPPSLYPRPPLLPPTSLLKSPLNHTQDAKLPSPLGNPALPLVS    491 - 560
AVSNSSQGTTAAAGPEEKFESRLEDSCVEKLKTRSSDMSDGSDFEDVNTTTGTDLDTTTGTGSDLDSDVD    561 - 630
SDPDKDKGKGKSAEGQPKFGGGLAPPGAPNSVAEVPVFYSQHSFFPPPDEQLLTATGAAGDSIKAIASIA    631 - 700
EKYFGPGFMGMQEKKLGSLPYHSAFPFQFLPNFPHSLYPFTDRALAHNLLVKAEPKSPRDALKVGGPSAE    701 - 770
CPFDLTTKPKDVKPILPMPKGPSAPASGEEQPLDLSIGSRARASQNGGGREPRKNHVYGERKLGAGEGLP    771 - 840
QVCPARMPQQPPLHYAKPSPFFMDPIYSRVEKRKVTDPVGALKEKYLRPSPLLFHPQMSAIETMTEKLES    841 - 910
FAAMKADSGSSLQPLPHHPFNFRSPPPTLSDPILRKGKERYTCRYCGKIFPRSANLTRHLRTHTGEQPYR    911 - 980
CKYCDRSFSISSNLQRHVRNIHNKEKPFKCHLCNRCFGQQTNLDRHLKKHEHENAPVSQHPGVLTNHLGT    981 - 1050
SASSPTSESDNHALLDEKEDSYFSEIRNFIANSEMNQASTRTEKRADMQIVDGSAQCPGLASEKQEDVEE   1051 - 1120
EDDDDLEEDDEDSLAGKSQDDTVSPAPEPQAAYEDEEDEEPAASLAVGFDHTRRCAEDHEGGLLALEPMP   1121 - 1190
TFGKGLDLRRAAEEAFEVKDVLNSTLDSEALKHTLCRQAKNQAYAMMLSLSEDTPLHTPSQGSLDAWLKV   1191 - 1260
TGATSESGAFHPINHL                                                         1261 - 1276
//

Text Mined References (53)

PMID Year Title
27151440 2016 PRDM16 Suppresses MLL1r Leukemia via Intrinsic Histone Methyltransferase Activity.
26701852 2016 miR-101 reverses hypomethylation of the PRDM16 promoter to disrupt mitochondrial function in astrocytoma cells.
26684393 2016 High PRDM16 expression identifies a prognostic subgroup of pediatric acute myeloid leukaemia correlated to FLT3-ITD, KMT2A-PTD, and NUP98-NSD1: the results of the Japanese Paediatric Leukaemia/Lymphoma Study Group AML-05 trial.
26559765 2015 SUMOylation of sPRDM16 promotes the progression of acute myeloid leukemia.
25662275 2015 PRDM16 sustains white fat gene expression profile in human adipocytes in direct relation with insulin action.
25644605 2015 PRDM16 enhances nuclear receptor-dependent transcription of the brown fat-specific Ucp1 gene through interactions with Mediator subunit MED1.
25578880 2015 Cold-inducible Zfp516 activates UCP1 transcription to promote browning of white fat and development of brown fat.
25567132 2015 High expression of EVI1 and MEL1 is a compelling poor prognostic marker of pediatric AML.
25085501 2014 Integrated genome-wide association, coexpression network, and expression single nucleotide polymorphism analysis identifies novel pathway in allergic rhinitis.
25035420 2014 Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.
24966940 2014 Methylation of PRDM2, PRDM5 and PRDM16 genes in lung cancer cells.
24863034 2014 Large-scale analysis reveals a functional single-nucleotide polymorphism in the 5'-flanking region of PRDM16 gene associated with lean body mass.
24717670 2014 Genetic testing in cardiovascular diseases.
24674449 2014 A replication study of GWAS findings in migraine identifies association in a Swedish case-control sample.
24327154 2013 [Association study of PRDM16 gene polymorphisms with essential hypertension in Xinjiang Uygur population].
24021092 PRDM16 rs2651899 variant is a risk factor for Chinese common migraine patients.
23793025 2013 Genome-wide meta-analysis identifies new susceptibility loci for migraine.
23768516 2013 Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.
23524569 2013 Association of single nucleotide polymorphism Rs2236518 in PRDM16 gene with BMI in Chinese males.
23454374 2013 White-to-brown transdifferentiation of omental adipocytes in patients affected by pheochromocytoma.
22939622 2012 Prdm3 and Prdm16 are H3K9me1 methyltransferases required for mammalian heterochromatin integrity.
22383139 2012 Association of genetic variations of PRDM16 with metabolic syndrome in a general Xinjiang Uygur population.
22072275 2012 Genetics of migraine in the age of genome-wide association studies.
22050763 2012 PRDM16 (1p36) translocations define a distinct entity of myeloid malignancies with poor prognosis but may also occur in lymphoid malignancies.
22039459 2011 Refinement of 1p36 alterations not involving PRDM16 in myeloid and lymphoid malignancies.
21666692 2011 Genome-wide association study reveals three susceptibility loci for common migraine in the general population.
21516122 2011 Sumoylation of MEL1S at lysine 568 and its interaction with CtBP facilitates its repressor activity and the blockade of G-CSF-induced myeloid differentiation.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20339536 2010 Genome-wide association of lipid-lowering response to statins in combined study populations.
20101261 2010 Human fetal mesenchymal stem cells differentiate into brown and white adipocytes: a role for ERRalpha in human UCP1 expression.
19641492 2009 Initiation of myoblast to brown fat switch by a PRDM16-C/EBP-beta transcriptional complex.
19567523 2009 Uncoupling protein-1 and related messenger ribonucleic acids in human epicardial and other adipose tissues: epicardial fat functioning as brown fat.
19285866 2009 PRDM16: the interconvertible adipo-myocyte switch.
19240061 2009 Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
19049980 2009 SKI and MEL1 cooperate to inhibit transforming growth factor-beta signal in gastric cancer cells.
18767145 2008 Cryptic and partial deletions of PRDM16 and RUNX1 without t(1;21)(p36;q22) and/or RUNX1-PRDM16 fusion in a case of progressive chronic myeloid leukemia: a complex chromosomal rearrangement of underestimated frequency in disease progression?
18202228 2008 RUNX1 DNA-binding mutations and RUNX1-PRDM16 cryptic fusions in BCR-ABL+ leukemias are frequently associated with secondary trisomy 21 and may contribute to clonal evolution and imatinib resistance.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16598304 2006 Identification of truncated RUNX1 and RUNX1-PRDM16 fusion transcripts in a case of t(1;21)(p36;q22)-positive therapy-related AML.
16582916 2006 Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14712237 2004 Molecular characterization of a t(1;3)(p36;q21) in a patient with MDS. MEL1 is widely expressed in normal tissues, including bone marrow, and it is not overexpressed in the t(1;3) cells.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14656887 2004 Aberrant expression of the MEL1S gene identified in association with hypomethylation in adult T-cell leukemia cells.
12816872 2003 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.
12557231 2003 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.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12168954 2002 Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.
11214970 2000 Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
11050005 2000 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.
8547101 1995 Abnormalities of 3q21 and 3q26 in myeloid malignancy: a United Kingdom Cancer Cytogenetic Group study.
4063527 1985 t(1;3)(p36;q21) in acute nonlymphocytic leukemia: a new cytogenetic-clinicopathologic association.