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Aliases for PRDM16 Gene

Aliases for PRDM16 Gene

  • PR Domain 16 2 3
  • Transcription Factor MEL1 2 3 4
  • PR Domain Containing 16 2 3 5
  • MDS1/EVI1-Like Gene 1 3 4
  • PFM13 3 4
  • MEL1 3 4
  • PR-Domain Zinc Finger Protein 16 2
  • PR Domain-Containing Protein 16 4
  • MDS1/EVI1-Like 2
  • KIAA1675 4
  • CMD1LL 3
  • LVNC8 3

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 16) is a Protein Coding gene. Diseases associated with PRDM16 include left ventricular noncompaction 8 and left ventricular noncompaction. Among its related pathways are Chromatin organization and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. GO annotations related to this gene include nucleic acid binding and transcription coactivator activity. 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

Enhancers for PRDM16 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PRDM16 on UCSC Golden Path with GeneCards custom track

Promoters for PRDM16 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PRDM16 on UCSC Golden Path with GeneCards custom track

Genomic Location for PRDM16 Gene

Chromosome:
1
Start:
3,068,227 bp from pter
End:
3,438,621 bp from pter
Size:
370,395 bases
Orientation:
Plus strand

Genomic View for PRDM16 Gene

Genes around PRDM16 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRDM16 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 & Families for PRDM16 Gene

Gene Families for PRDM16 Gene

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 :
  • Contains 1 SET domain.
  • Contains 10 C2H2-type zinc fingers.
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:0005515 protein binding IEA,IPI 19049980
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PRDM16: view
genes like me logo Genes that share phenotypes with PRDM16: view

Human Phenotype Ontology for PRDM16 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for PRDM16

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
cytosol 5
nucleus 5
mitochondrion 2
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components for PRDM16 Gene

Pathways & Interactions for PRDM16 Gene

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

Pathways by source for PRDM16 Gene

SIGNOR curated interactions for PRDM16 Gene

Activates:
Is activated by:

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:0006355 regulation of transcription, DNA-templated IEA --
GO:0019827 stem cell population maintenance IEA --
GO:0030853 negative regulation of granulocyte differentiation IDA 12816872
GO:0034968 histone lysine methylation TAS --
genes like me logo Genes that share ontologies with PRDM16: view

Drugs & Compounds for PRDM16 Gene

(1) Drugs for PRDM16 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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:

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 (x7.2), Artery - Tibial (x5.8), and Artery - Coronary (x5.2).

Protein differential expression in normal tissues from HIPED for PRDM16 Gene

This gene is overexpressed in Monocytes (36.3), Islet of Langerhans (23.2), and Adipocyte (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with PRDM16: view

Protein tissue co-expression partners for PRDM16 Gene

Primer 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
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
chimpanzee
(Pan troglodytes)
Mammalia PRDM16 35
  • 98.86 (n)
  • 98.3 (a)
PRDM16 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prdm16 35
  • 86.48 (n)
  • 89.11 (a)
oppossum
(Monodelphis domestica)
Mammalia PRDM16 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRDM16 36
  • 82 (a)
OneToOne
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)
wufc09g08 35
prdm16 36
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10348 37
  • 51 (a)
CG10348 36
  • 32 (a)
ManyToMany
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
rs870124 - 3,411,794(-) CAGCG(A/C/G)TGTGG reference, missense
rs2493292 - 3,412,095(-) TGTCA(A/G)GGTCG reference, missense
VAR_070212 Cardiomyopathy, dilated 1LL (CMD1LL)
VAR_070213 Cardiomyopathy, dilated 1LL (CMD1LL)
VAR_070214 Left ventricular non-compaction 8 (LVNC8)

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

Variation tolerance for PRDM16 Gene

Residual Variation Intolerance Score: 15.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.70; 78.61% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(9) MalaCards diseases for PRDM16 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
left ventricular noncompaction 8
  • cardiomyopathy, dilated, 1ll
left ventricular noncompaction
  • left ventricular hypertrabeculation
familial isolated dilated cardiomyopathy
  • familial or idiopathic dilated cardiomyopathy
chromosome 1p36 deletion syndrome
  • 1p36 deletion syndrome
myelodysplastic syndrome
  • myelodysplastic syndrome, somatic
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PRD16_HUMAN
  • 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.
  • 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.
  • 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. {ECO:0000269 PubMed:11050005, ECO:0000269 PubMed:12557231}.

Relevant External Links for PRDM16

Genetic Association Database (GAD)
PRDM16
Human Genome Epidemiology (HuGE) Navigator
PRDM16
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRDM16
genes like me logo Genes that share disorders with PRDM16: view

No data available for Genatlas for PRDM16 Gene

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 67
  2. 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 23
  3. 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. (PMID: 14712237) Lahortiga I. … Odero M.D. (Oncogene 2004) 3 23
  4. 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 23
  5. 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 23

Products for PRDM16 Gene

Sources for PRDM16 Gene

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