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Aliases for PRDM16 Gene

Aliases for PRDM16 Gene

  • PR Domain Containing 16 2 3
  • Transcription Factor MEL1 2 3 4
  • MEL1 3 4 6
  • MDS1/EVI1-Like Gene 1 3 4
  • CMD1LL 3 6
  • LVNC8 3 6
  • PFM13 3 4
  • PR-Domain Zinc Finger Protein 16 2
  • PR Domain Zinc Finger Protein 16 3
  • PR Domain-Containing Protein 16 4
  • MDS1/EVI1-Like 2
  • KIAA1675 4

External Ids for PRDM16 Gene

Previous GeneCards Identifiers for PRDM16 Gene

  • GC01P002423
  • GC01P002942
  • GC01P002559
  • GC01P002768
  • GC01P003008
  • GC01P002280

Summaries for PRDM16 Gene

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 left ventricular noncompaction 8 and 1p36 deletion syndrome. GO annotations related to this gene include sequence-specific DNA binding and SMAD binding. An important paralog of this gene is MECOM.

UniProtKB/Swiss-Prot for PRDM16 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRDM16 Gene

Genomics for PRDM16 Gene

Regulatory Elements for PRDM16 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PRDM16 Gene

Start:
3,068,497 bp from pter
End:
3,438,621 bp from pter
Size:
370,125 bases
Orientation:
Plus strand

Genomic View for PRDM16 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PRDM16 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRDM16 Gene

Proteins for PRDM16 Gene

  • Protein details for PRDM16 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HAZ2-PRD16_HUMAN
    Recommended name:
    PR domain zinc finger protein 16
    Protein Accession:
    Q9HAZ2
    Secondary Accessions:
    • A6NHQ8
    • B1AJP7
    • B1AJP8
    • B1AJP9
    • B1WB48
    • Q8WYJ9
    • Q9C0I8

    Protein attributes for PRDM16 Gene

    Size:
    1276 amino acids
    Molecular mass:
    140251 Da
    Quaternary structure:
    • 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 (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 (PubMed:19049980). Interacts with ZNF516; the interaction is direct and may play a role in the transcription of brown adipose tissue-specific gene (PubMed:25578880).
    SequenceCaution:
    • Sequence=BAB21766.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for PRDM16 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRDM16 Gene

Proteomics data for PRDM16 Gene at MOPED

Post-translational modifications for PRDM16 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PRDM16 Gene

Antibody Products

No data available for DME Specific Peptides for PRDM16 Gene

Domains for PRDM16 Gene

Gene Families for PRDM16 Gene

HGNC:
  • ZNF :Zinc fingers, C2H2-type

Protein Domains for PRDM16 Gene

Suggested Antigen Peptide Sequences for PRDM16 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9HAZ2

UniProtKB/Swiss-Prot:

PRD16_HUMAN :
  • Q9HAZ2
Domain:
  • Contains 1 SET domain.
Similarity:
  • Contains 10 C2H2-type zinc fingers.
genes like me logo Genes that share domains with PRDM16: view

Function for PRDM16 Gene

Molecular function for PRDM16 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for PRDM16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding --
GO:0003677 DNA binding --
GO:0003713 transcription coactivator activity ISS --
GO:0005515 protein binding IPI 19049980
GO:0033613 activating transcription factor binding IPI 25578880
genes like me logo Genes that share ontologies with PRDM16: view
genes like me logo Genes that share phenotypes with PRDM16: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PRDM16

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for PRDM16 Gene

Localization for PRDM16 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRDM16 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PRDM16 Gene COMPARTMENTS Subcellular localization image for PRDM16 gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PRDM16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 19049980
GO:0005829 cytosol TAS --
GO:0017053 transcriptional repressor complex ISS --
genes like me logo Genes that share ontologies with PRDM16: view

Pathways for PRDM16 Gene

SuperPathways for PRDM16 Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for PRDM16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 19049980
GO:0006325 chromatin organization TAS --
GO:0006351 transcription, DNA-templated IEA --
GO:0022008 neurogenesis IEA --
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway IMP 19049980
genes like me logo Genes that share ontologies with PRDM16: view

No data available for Pathways by source for PRDM16 Gene

Compounds for PRDM16 Gene

(1) Novoseek inferred chemical compound relationships for PRDM16 Gene

Compound -log(P) Hits PubMed IDs
zinc 30 1
genes like me logo Genes that share compounds with PRDM16: view

Transcripts for PRDM16 Gene

Unigene Clusters for PRDM16 Gene

PR domain containing 16:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PRDM16

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for PRDM16
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PRDM16 Gene

No ASD Table

Relevant External Links for PRDM16 Gene

GeneLoc Exon Structure for
PRDM16
ECgene alternative splicing isoforms for
PRDM16

Expression for PRDM16 Gene

mRNA expression in normal human tissues for PRDM16 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PRDM16 Gene

This gene is overexpressed in Artery - Aorta (7.2), Artery - Tibial (5.8), and Artery - Coronary (5.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PRDM16 Gene

SOURCE GeneReport for Unigene cluster for PRDM16 Gene Hs.99500

mRNA Expression by UniProt/SwissProt for PRDM16 Gene

Q9HAZ2-PRD16_HUMAN
Tissue specificity: Expressed in uterus and kidney. Expressed in both cardiomyocytes and interstitial cells.
genes like me logo Genes that share expressions with PRDM16: view

In Situ Assay Products

Orthologs for PRDM16 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PRDM16 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PRDM16 35
  • 98.86 (n)
  • 98.3 (a)
PRDM16 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PRDM16 35
  • 88.17 (n)
  • 88.25 (a)
PRDM16 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRDM16 35
  • 89.11 (n)
  • 88.37 (a)
PRDM16 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prdm16 35
  • 86.78 (n)
  • 88.53 (a)
Prdm16 16
Prdm16 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PRDM16 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRDM16 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prdm16 35
  • 86.48 (n)
  • 89.11 (a)
chicken
(Gallus gallus)
Aves PRDM16 35
  • 80.65 (n)
  • 82.46 (a)
PRDM16 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRDM16 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prdm16 35
  • 71.74 (n)
  • 75.81 (a)
zebrafish
(Danio rerio)
Actinopterygii prdm16 35
  • 68.97 (n)
  • 68.28 (a)
prdm16 36
  • 65 (a)
OneToOne
wufc09g08 35
fruit fly
(Drosophila melanogaster)
Insecta CG10348 36
  • 32 (a)
ManyToMany
CG10348 37
  • 51 (a)
worm
(Caenorhabditis elegans)
Secernentea egl-43 36
  • 30 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSN2 36
  • 16 (a)
ManyToMany
MSN4 36
  • 15 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToMany
Species with no ortholog for PRDM16:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PRDM16 Gene

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

Paralogs for PRDM16 Gene

Paralogs for PRDM16 Gene

genes like me logo Genes that share paralogs with PRDM16: view

Variants for PRDM16 Gene

Sequence variations from dbSNP and Humsavar for PRDM16 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs188258 -- 3,155,197(-) GAGAT(G/T)CCTCT intron-variant
rs207192 -- 3,150,680(+) GCACA(C/T)CTGCC intron-variant
rs207193 -- 3,150,858(+) TGGAG(A/G)CCGGG intron-variant
rs207194 -- 3,151,122(+) GTGCC(C/T)CCTGC intron-variant
rs207195 -- 3,154,070(-) GGGCC(C/G)CAGAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PRDM16 Gene

Variant ID Type Subtype PubMed ID
nsv870655 CNV Loss 21882294
nsv428399 CNV Gain 18775914
nsv870889 CNV Loss 21882294
dgv87n71 CNV Loss 21882294
nsv871683 CNV Loss 21882294
dgv89n71 CNV Loss 21882294
nsv871581 CNV Loss 21882294
nsv829759 CNV Loss 17160897
dgv91n71 CNV Loss 21882294
nsv871668 CNV Loss 21882294
nsv871200 CNV Loss 21882294
nsv824697 CNV Gain 20364138
esv2724583 CNV Deletion 23290073
dgv92n71 CNV Loss 21882294
nsv871578 CNV Loss 21882294
nsv457884 CNV Loss 19166990
esv2724694 CNV Deletion 23290073
esv2664338 CNV Deletion 23128226
esv2676112 CNV Deletion 23128226
esv2724805 CNV Deletion 23290073
esv2724916 CNV Deletion 23290073
esv2665020 CNV Deletion 23128226
esv2725029 CNV Deletion 23290073
nsv871691 CNV Loss 21882294
esv2725140 CNV Deletion 23290073
esv2725251 CNV Deletion 23290073
esv22935 CNV Gain 19812545
esv2725362 CNV Deletion 23290073
esv2662377 CNV Deletion 23128226
nsv458995 CNV Loss 19166990
esv25107 CNV Gain 19812545
esv1279453 CNV Deletion 17803354
esv1001450 CNV Loss 20482838
esv26942 CNV Gain 19812545
esv2447933 CNV Deletion 19546169
esv2725473 CNV Deletion 23290073
nsv160334 CNV Insertion 16902084
esv2725584 CNV Deletion 23290073
esv2657185 CNV Deletion 23128226
nsv871860 CNV Loss 21882294
nsv829870 CNV Loss 17160897
esv272780 CNV Insertion 20981092
nsv870780 CNV Loss 21882294
nsv527875 CNV Loss 19592680
nsv829981 CNV Loss 17160897
nsv870698 CNV Loss 21882294
esv2639320 CNV Insertion 19546169
nsv870992 CNV Loss 21882294
dgv93n71 CNV Loss 21882294
dgv94n71 CNV Loss 21882294
nsv871025 CNV Loss 21882294
esv2725695 CNV Deletion 23290073
esv2725806 CNV Deletion 23290073
esv2725917 CNV Deletion 23290073
dgv6n67 CNV Loss 20364138
esv2670143 CNV Deletion 23128226
nsv7645 CNV Insertion 18451855
nsv161030 CNV Insertion 16902084
esv2582992 CNV Deletion 19546169
esv2000244 CNV Deletion 18987734
nsv511673 CNV Loss 21212237
esv1917341 CNV Deletion 18987734
esv22281 CNV Loss 19812545
esv2726028 CNV Deletion 23290073
esv2726140 CNV Deletion 23290073
nsv830092 CNV Gain+Loss 17160897
nsv522146 CNV Loss 19592680
dgv95n71 CNV Loss 21882294
esv2662201 CNV Deletion 23128226
esv2726251 CNV Deletion 23290073
esv2726362 CNV Deletion 23290073
esv998521 CNV Deletion 20482838
esv1330141 CNV Deletion 17803354
esv2726473 CNV Deletion 23290073
nsv526836 CNV Loss 19592680
nsv870990 CNV Loss 21882294
dgv96n71 CNV Loss 21882294
esv2726584 CNV Deletion 23290073
nsv871228 CNV Loss 21882294
dgv97n71 CNV Loss 21882294
nsv470687 CNV Loss 18288195
dgv12e1 CNV Complex 17122850
nsv459950 CNV Loss 19166990
dgv98n71 CNV Loss 21882294
dgv99n71 CNV Loss 21882294
nsv522900 CNV Loss 19592680
dgv100n71 CNV Loss 21882294
nsv524467 CNV Loss 19592680
dgv1n21 CNV Gain 19592680
dgv101n71 CNV Loss 21882294
esv2726695 CNV Deletion 23290073
esv2658512 CNV Deletion 23128226
esv1000452 CNV Deletion 20482838
esv2726806 CNV Deletion 23290073
esv4712 CNV Deletion 18987735
esv2726917 CNV Deletion 23290073

Relevant External Links for PRDM16 Gene

HapMap Linkage Disequilibrium report
PRDM16
Human Gene Mutation Database (HGMD)
PRDM16

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRDM16 Gene

Disorders for PRDM16 Gene

(1) OMIM Diseases for PRDM16 Gene (605557)

UniProtKB/Swiss-Prot

PRD16_HUMAN
  • 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. {ECO:0000269 PubMed:23768516}. 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. {ECO:0000269 PubMed:23768516}. 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.

(4) Novoseek inferred disease relationships for PRDM16 Gene

Disease -log(P) Hits PubMed IDs
myelodysplastic syndromes 73.2 1
leukemogenesis 65.7 1
leukemia 45.2 7
chromosomal aberrations 39.8 1

Relevant External Links for PRDM16

Genetic Association Database (GAD)
PRDM16
Human Genome Epidemiology (HuGE) Navigator
PRDM16
genes like me logo Genes that share disorders with PRDM16: view

Publications for PRDM16 Gene

  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. (PMID: 11050005) Mochizuki N. … Morishita K. (Blood 2000) 2 3 4 23
  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. (PMID: 12557231) Xinh P.T. … Sato Y. (Genes Chromosomes Cancer 2003) 3 4 23
  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. (PMID: 12816872) Nishikata I. … Morishita K. (Blood 2003) 3 4 23
  4. Aberrant expression of the MEL1S gene identified in association with hypomethylation in adult T-cell leukemia cells. (PMID: 14656887) Yoshida M. … Matsuoka M. (Blood 2004) 3 4 23
  5. 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. (PMID: 11214970) Nagase T. … Ohara O. (DNA Res. 2000) 3 4

Products for PRDM16 Gene

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Sources for PRDM16 Gene

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