PRDM16 Gene (Protein Coding)

PR/SET Domain 16

GC01P003068
GIFtS:
45
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. Th... See more...

Aliases for PRDM16 Gene

Aliases for PRDM16 Gene

  • PR/SET Domain 16 2 3 5
  • Transcription Factor MEL1 2 3 4
  • PFM13 2 3 4
  • MEL1 2 3 4
  • Histone-Lysine N-Methyltransferase PRDM16 3 4
  • PR Domain Zinc Finger Protein 16 3 4
  • PR Domain Containing 16 2 3
  • MDS1/EVI1-Like Gene 1 3 4
  • PR Domain 16 2 3
  • KIAA1675 2 4
  • KMT8F 2 3
  • PR-Domain Zinc Finger Protein 16 2
  • PR Domain-Containing Protein 16 4
  • MDS1/EVI1-Like 2
  • EC 2.1.1.367 4
  • MGC166915 2
  • CMD1LL 3
  • PRDM16 5
  • 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/SET 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 Lysine degradation. Gene Ontology (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 Summary for PRDM16 Gene

  • Binds DNA and functions as a transcriptional regulator (PubMed:12816872). Displays histone methyltransferase activity and monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro (By similarity). Probably catalyzes the monomethylation of free histone H3 in the cytoplasm which is then transported to the nucleus and incorporated into nucleosomes where SUV39H methyltransferases use it as a substrate to catalyze histone H3 'Lys-9' trimethylation (By similarity). Likely to be one of the primary histone methyltransferases along with MECOM/PRDM3 that direct cytoplasmic H3K9me1 methylation (By similarity). 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 (By similarity). Together with CEBPB, regulates the differentiation of myoblastic precursors into brown adipose cells (By similarity). Functions as a repressor of TGF-beta signaling (PubMed:19049980).
  • [Isoform 4]: Binds DNA and functions as a transcriptional regulator (PubMed:12816872). Functions as a repressor of TGF-beta signaling (PubMed:14656887). May regulate granulocyte differentiation (PubMed:12816872).

Gene Wiki entry for PRDM16 Gene

Additional gene information for PRDM16 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PRDM16 Gene

Genomics for PRDM16 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PRDM16 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRDM16 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PRDM16

Top Transcription factor binding sites by QIAGEN in the PRDM16 gene promoter:
  • aMEF-2
  • AP-4
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • IRF-1
  • MEF-2A

Genomic Locations for PRDM16 Gene

Latest Assembly
chr1:3,069,168-3,438,621
(GRCh38/hg38)
Size:
369,454 bases
Orientation:
Plus strand

Previous Assembly
chr1:2,985,767-3,355,185
(GRCh37/hg19 by Entrez Gene)
Size:
369,419 bases
Orientation:
Plus strand

chr1:2,985,732-3,355,185
(GRCh37/hg19 by Ensembl)
Size:
369,454 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 Structure • Gene Density

RefSeq DNA sequence for PRDM16 Gene

Proteins for PRDM16 Gene

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

    Protein Symbol:
    Q9HAZ2-PRD16_HUMAN
    Recommended name:
    Histone-lysine N-methyltransferase PRDM16
    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=Extended N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 4]: Produced by alternative promoter usage.

    Three dimensional structures from OCA and Proteopedia for PRDM16 Gene

    Alternative splice isoforms for PRDM16 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRDM16 Gene

Protein Expression for PRDM16 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PRDM16 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PRDM16 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PRDM16 Gene

Domains & Families for PRDM16 Gene

Gene Families for PRDM16 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for PRDM16 Gene

InterPro:

Suggested Antigen Peptide Sequences for PRDM16 Gene

GenScript: Design optimal peptide antigens:
  • Transcription factor MEL1 (PRD16_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HAZ2

UniProtKB/Swiss-Prot:

PRD16_HUMAN :
  • Belongs to the PRDM16 family.
Family:
  • Belongs to the PRDM16 family.
genes like me logo Genes that share domains with PRDM16: view

Function for PRDM16 Gene

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Molecular function for PRDM16 Gene

UniProtKB/Swiss-Prot Function:
Binds DNA and functions as a transcriptional regulator (PubMed:12816872). Displays histone methyltransferase activity and monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro (By similarity). Probably catalyzes the monomethylation of free histone H3 in the cytoplasm which is then transported to the nucleus and incorporated into nucleosomes where SUV39H methyltransferases use it as a substrate to catalyze histone H3 'Lys-9' trimethylation (By similarity). Likely to be one of the primary histone methyltransferases along with MECOM/PRDM3 that direct cytoplasmic H3K9me1 methylation (By similarity). 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 (By similarity). Together with CEBPB, regulates the differentiation of myoblastic precursors into brown adipose cells (By similarity). Functions as a repressor of TGF-beta signaling (PubMed:19049980).
UniProtKB/Swiss-Prot Function:
[Isoform 4]: Binds DNA and functions as a transcriptional regulator (PubMed:12816872). Functions as a repressor of TGF-beta signaling (PubMed:14656887). May regulate granulocyte differentiation (PubMed:12816872).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-lysyl(9)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(9)-[histone H3] + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:60280, Rhea:RHEA-COMP:15542, Rhea:RHEA-COMP:15546, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61929; EC=2.1.1.367; Evidence={ECO:0000250|UniProtKB:A2A935};.

Enzyme Numbers (IUBMB) for PRDM16 Gene

Phenotypes From GWAS Catalog for PRDM16 Gene

Gene Ontology (GO) - Molecular Function for PRDM16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IDA 12816872
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 12816872
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IBA 21873635
GO:0003677 DNA 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 Models for research

  • Taconic Biosciences Mouse Models for PRDM16

Inhibitory RNAs for research

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No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PRDM16 Gene

Localization for PRDM16 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRDM16 Gene

Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRDM16 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 3
plasma membrane 2
extracellular 2
cytoskeleton 2
peroxisome 2
endoplasmic reticulum 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PRDM16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 19049980
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA,TAS --
GO:0016235 aggresome IDA --
genes like me logo Genes that share ontologies with PRDM16: view

Pathways & Interactions for PRDM16 Gene

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

Pathways by source for PRDM16 Gene

3 KEGG pathways 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 by RNA polymerase II IDA 19049980
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0030154 cell differentiation IEA --
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway IMP 19049980
GO:0032259 methylation IEA --
genes like me logo Genes that share ontologies with PRDM16: view

Drugs & Compounds for PRDM16 Gene

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(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

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mRNA/cDNA for PRDM16 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRDM16

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

No ASD Table

Relevant External Links for PRDM16 Gene

GeneLoc Exon Structure for
PRDM16

Expression for PRDM16 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PRDM16 Gene

mRNA expression in normal human tissues for PRDM16 Gene
mRNA expression by BioGPS for PRDM16 GenemRNA expression by GTEx 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 and MOPED for PRDM16 Gene



Protein tissue co-expression partners for PRDM16 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PRDM16

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.

Evidence on tissue expression from TISSUES for PRDM16 Gene

  • Nervous system(4.4)
  • Muscle(2.3)
  • Skin(2.2)
  • Heart(2.1)
  • Intestine(2.1)
  • Blood(2)
  • Kidney(2)
  • Thyroid gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PRDM16 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • pituitary gland
  • scalp
  • skull
  • thyroid
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • anus
  • pelvis
  • penis
  • rectum
  • testicle
  • urethra
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with PRDM16: view

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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 29 30
  • 98.86 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PRDM16 29 30
  • 89.11 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PRDM16 29 30
  • 88.17 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Prdm16 29 16 30
  • 86.78 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Prdm16 29
  • 86.48 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia PRDM16 30
  • 82 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia PRDM16 30
  • 72 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves PRDM16 29 30
  • 80.65 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia PRDM16 30
  • 90 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia prdm16 29
  • 71.74 (n)
Zebrafish
(Danio rerio)
 Actinopterygii prdm16 29 30
  • 68.97 (n)
 OneToOne
wufc09g08 29
Fruit Fly
(Drosophila melanogaster)
 Insecta CG10348 30 31
  • 32 (a)
 ManyToMany
Worm
(Caenorhabditis elegans)
 Secernentea egl-43 30
  • 30 (a)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes MSN2 30
  • 16 (a)
 ManyToMany
MSN4 30
  • 15 (a)
 ManyToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 37 (a)
 OneToMany
Species where no ortholog for PRDM16 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PRDM16: view image
Alliance of Genome Resources:
Additional Orthologs for PRDM16

Paralogs for PRDM16 Gene

Paralogs for PRDM16 Gene

(78) SIMAP similar genes for PRDM16 Gene using alignment to 8 proteins:

  • PRD16_HUMAN
  • D3YTA5_HUMAN
  • D6RDW0_HUMAN
  • D6RFY3_HUMAN
  • F8WEV3_HUMAN
  • H0YA13_HUMAN
  • L8E8P9_HUMAN
  • U3KQL6_HUMAN
genes like me logo Genes that share paralogs with PRDM16: view

Variants for PRDM16 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PRDM16 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1000013 Uncertain Significance: Left ventricular noncompaction 8 3,411,935(+) G/A
NM_022114.4(PRDM16):c.1738G>A (p.Glu580Lys) 		MISSENSE
1000807 Uncertain Significance: Left ventricular noncompaction 8 3,244,111(+) T/C
NM_022114.4(PRDM16):c.412T>C (p.Ser138Pro) 		MISSENSE
1001737 Uncertain Significance: Left ventricular noncompaction 8 3,430,894(+) G/A
NM_022114.4(PRDM16):c.3307G>A (p.Gly1103Ser) 		MISSENSE
1002756 Uncertain Significance: Left ventricular noncompaction 8 3,430,957(+) G/A
NM_022114.4(PRDM16):c.3370G>A (p.Asp1124Asn) 		MISSENSE
1005337 Uncertain Significance: Left ventricular noncompaction 8 3,186,466(+) G/A
NM_022114.4(PRDM16):c.379G>A (p.Gly127Arg) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PRDM16 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv11n100 CNV gain 25217958
dgv1n21 CNV gain 19592680
dgv20n106 CNV deletion 24896259
dgv52n54 CNV loss 21841781
dgv53n54 CNV gain 21841781
dgv54n54 CNV loss 21841781
dgv55n54 CNV loss 21841781
dgv56n54 CNV gain+loss 21841781
dgv6e212 CNV loss 25503493
dgv6n67 CNV loss 20364138
dgv7e212 CNV loss 25503493
esv1000452 CNV deletion 20482838
esv1001450 CNV loss 20482838
esv1279453 CNV deletion 17803354
esv1330141 CNV deletion 17803354
esv1917341 CNV deletion 18987734
esv2000244 CNV deletion 18987734
esv22281 CNV loss 19812545
esv22935 CNV gain 19812545
esv2447933 CNV deletion 19546169
esv25107 CNV gain 19812545
esv2582992 CNV deletion 19546169
esv2639320 CNV insertion 19546169
esv2657185 CNV deletion 23128226
esv2658512 CNV deletion 23128226
esv2662201 CNV deletion 23128226
esv2662377 CNV deletion 23128226
esv2664338 CNV deletion 23128226
esv2665020 CNV deletion 23128226
esv2670143 CNV deletion 23128226
esv2676112 CNV deletion 23128226
esv26942 CNV gain 19812545
esv2758915 CNV gain 17122850
esv3340545 CNV duplication 20981092
esv3347294 CNV duplication 20981092
esv3347804 CNV duplication 20981092
esv3363327 CNV insertion 20981092
esv3382615 CNV duplication 20981092
esv3384045 CNV insertion 20981092
esv3414281 CNV duplication 20981092
esv3562426 CNV deletion 23714750
esv3562537 CNV deletion 23714750
esv3562648 CNV deletion 23714750
esv3583359 CNV gain 25503493
esv3585036 CNV gain 21293372
esv3585038 CNV gain 21293372
esv3585040 CNV gain 21293372
esv3585041 CNV loss 21293372
esv4712 CNV loss 18987735
esv998521 CNV deletion 20482838
nsv1000306 CNV gain 25217958
nsv1013792 CNV gain 25217958
nsv1071333 CNV deletion 25765185
nsv1074509 CNV deletion 25765185
nsv1074510 CNV deletion 25765185
nsv1075973 CNV deletion 25765185
nsv1076898 CNV deletion 25765185
nsv1076902 CNV deletion 25765185
nsv1076915 CNV deletion 25765185
nsv1076920 CNV deletion 25765185
nsv1076925 CNV deletion 25765185
nsv1078721 CNV insertion 25765185
nsv1110989 CNV tandem duplication 24896259
nsv1115331 CNV duplication 24896259
nsv1115951 CNV insertion 24896259
nsv1118426 CNV duplication 24896259
nsv1121743 CNV deletion 24896259
nsv1122285 CNV deletion 24896259
nsv1125450 CNV tandem duplication 24896259
nsv1125451 CNV tandem duplication 24896259
nsv1130628 CNV deletion 24896259
nsv1132819 CNV insertion 24896259
nsv1132820 CNV insertion 24896259
nsv1132822 CNV insertion 24896259
nsv1133794 CNV deletion 24896259
nsv1133795 CNV deletion 24896259
nsv1136060 CNV deletion 24896259
nsv1137719 CNV deletion 24896259
nsv1141125 CNV duplication 24896259
nsv1142048 CNV tandem duplication 24896259
nsv1142049 CNV tandem duplication 24896259
nsv1142739 CNV deletion 24896259
nsv1142740 CNV deletion 24896259
nsv1144341 CNV deletion 24896259
nsv1147331 CNV insertion 26484159
nsv1149038 CNV deletion 26484159
nsv1151429 CNV deletion 26484159
nsv160334 CNV insertion 16902084
nsv161030 CNV insertion 16902084
nsv428399 CNV gain 18775914
nsv457884 CNV loss 19166990
nsv458995 CNV loss 19166990
nsv459950 CNV loss 19166990
nsv470687 CNV loss 18288195
nsv511673 CNV loss 21212237
nsv512711 CNV insertion 21212237
nsv522146 CNV loss 19592680
nsv522900 CNV loss 19592680
nsv524467 CNV loss 19592680
nsv526836 CNV loss 19592680
nsv527875 CNV loss 19592680
nsv545098 CNV loss 21841781
nsv545099 CNV loss 21841781
nsv545100 CNV loss 21841781
nsv545102 CNV gain 21841781
nsv545113 CNV loss 21841781
nsv545117 CNV gain+loss 21841781
nsv545120 CNV loss 21841781
nsv545121 CNV loss 21841781
nsv545122 CNV loss 21841781
nsv545123 CNV loss 21841781
nsv7645 CNV insertion 18451855
nsv824697 CNV gain 20364138
nsv829759 CNV loss 17160897
nsv829870 CNV loss 17160897
nsv829981 CNV loss 17160897
nsv830092 CNV gain+loss 17160897
nsv951959 CNV deletion 24416366
nsv954327 CNV deletion 24416366

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)

Additional Variant Information for PRDM16 Gene

Human Gene Mutation Database (HGMD)
PRDM16
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRDM16
Leiden Open Variation Database (LOVD)
PRDM16

SNP Genotyping and Copy Number Assays for research

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

Disorders for PRDM16 Gene

MalaCards: The human disease database

(23) MalaCards diseases for PRDM16 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
left ventricular noncompaction 8
  • lvnc8
left ventricular noncompaction
  • left ventricular hypertrabeculation
familial isolated dilated cardiomyopathy
  • familial or idiopathic dilated cardiomyopathy
chromosome 1p36 deletion syndrome
  • monosomy 1p36 syndrome
adult t-cell leukemia
  • adult t-cell leukemia/lymphoma
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PRD16_HUMAN
  • Left ventricular non-compaction 8 (LVNC8) [MIM:615373]: A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC8 is an autosomal dominant condition. {ECO:0000269 PubMed:23768516}. Note=The disease is caused by variants 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 variants 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}.

Additional Disease Information for PRDM16

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 22
  2. Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. (PMID: 23768516) Arndt AK … Klaassen S (American journal of human genetics 2013) 3 4 72
  3. 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 22
  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 PT … Sato Y (Genes, chromosomes & cancer 2003) 3 4 22
  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 4 22

ExternalLinks

View latest publications for PRDM16 gene in Mastermind

Products for PRDM16 Gene

Sources for PRDM16 Gene