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Aliases for PRDM16 Gene

Aliases for PRDM16 Gene

  • PR/SET Domain 16 2 3 5
  • Transcription Factor MEL1 2 3 4
  • PR Domain Containing 16 2 3
  • MDS1/EVI1-Like Gene 1 3 4
  • PR Domain 16 2 3
  • PFM13 3 4
  • MEL1 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
  • CMD1LL 3
  • KMT8F 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/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 Differentiation of white and brown adipocyte and PKMTs methylate histone lysines. 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 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

Additional gene information for PRDM16 Gene

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

Genomics for PRDM16 Gene

GeneHancer (GH) Regulatory Elements for PRDM16 Gene

Promoters and enhancers for PRDM16 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I003065 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 558.9 +2.3 2276 9.4 ZSCAN4 ZNF48 RAD21 RARA ZNF335 GLIS2 ZNF143 THAP11 EGR2 ZNF362 PRDM16 LOC100420339 MORN1 FAAP20 TP73-AS1 ACTRT2 LOC100129534 ENSG00000234396 LINC00982 PIR58969
GH01I003274 Enhancer 1 VISTA UCNEbase dbSUPER 11.6 +206.2 206214 0.8 PIR53217 GC01P003272 ACTRT2 PRDM16 LINC00982 PIR57396 GC01M003273 GC01P003264
GH01I003345 Enhancer 2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 3.3 +282.7 282708 10.8 PKNOX1 ATF1 FOXA2 MLX ARID4B FEZF1 ZNF2 ZNF48 ZNF121 GLIS2 MORN1 TP73-AS1 LOC100129534 ENSG00000229393 PRDM16 GC01M003355 LOC105378604 GC01P003264
GH01I003393 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 4.1 +325.7 325678 1.8 PKNOX1 ARNT MZF1 FEZF1 ZNF2 ZNF335 GLIS2 ZNF366 KLF7 EGR2 GC01P003395 ARHGEF16 PRDM16 GC01M003384 GC01P003264
GH01I003093 Enhancer 0.4 dbSUPER 12.6 +26.3 26332 1.8 RING1 ZIC2 MORN1 FAAP20 TP73-AS1 LINC00982 PRDM16 LOC100129534 ENSG00000234396 HES5 PIR58969 MIR4251
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PRDM16 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PRDM16 gene promoter:

Genomic Locations for PRDM16 Gene

Genomic Locations for PRDM16 Gene
chr1:3,068,227-3,438,621
(GRCh38/hg38)
Size:
370,395 bases
Orientation:
Plus strand
chr1:2,985,732-3,355,185
(GRCh37/hg19)

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};

    Three dimensional structures from OCA and Proteopedia for PRDM16 Gene

    Alternative splice isoforms for PRDM16 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRDM16 Gene

Post-translational modifications for PRDM16 Gene

No Post-translational modifications

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

Suggested Antigen Peptide Sequences for PRDM16 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for PRDM16 Gene

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.

Phenotypes From GWAS Catalog for PRDM16 Gene

Gene Ontology (GO) - Molecular Function for PRDM16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003713 transcription coactivator activity IEA,ISS --
GO:0005515 protein binding IPI 19049980
GO:0018024 histone-lysine N-methyltransferase activity TAS --
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

Clone Products

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
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 2
peroxisome 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PRDM16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 19049980
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol TAS,IDA --
GO:0016235 aggresome IDA --
GO:0017053 transcriptional repressor complex IEA,ISS --
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

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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0019827 stem cell population maintenance IEA --
GO:0022008 neurogenesis IEA --
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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for PRDM16 Gene

NURSA nuclear receptor signaling pathways regulating expression of PRDM16 Gene:

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(4.2)

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

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 33 34
  • 98.86 (n)
dog
(Canis familiaris)
Mammalia PRDM16 33 34
  • 89.11 (n)
cow
(Bos Taurus)
Mammalia PRDM16 33 34
  • 88.17 (n)
mouse
(Mus musculus)
Mammalia Prdm16 33 16 34
  • 86.78 (n)
rat
(Rattus norvegicus)
Mammalia Prdm16 33
  • 86.48 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PRDM16 34
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PRDM16 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves PRDM16 33 34
  • 80.65 (n)
lizard
(Anolis carolinensis)
Reptilia PRDM16 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prdm16 33
  • 71.74 (n)
zebrafish
(Danio rerio)
Actinopterygii prdm16 33 34
  • 68.97 (n)
wufc09g08 33
fruit fly
(Drosophila melanogaster)
Insecta CG10348 35 34
  • 51 (a)
worm
(Caenorhabditis elegans)
Secernentea egl-43 34
  • 30 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSN2 34
  • 16 (a)
ManyToMany
MSN4 34
  • 15 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 37 (a)
OneToMany
Species where no ortholog for PRDM16 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1016599754 uncertain-significance, Left ventricular noncompaction 8 3,412,181(+) G/A coding_sequence_variant, missense_variant
rs1049463147 likely-benign, Left ventricular noncompaction 8 3,405,487(+) C/G/T intron_variant
rs1060500997 uncertain-significance, Left ventricular noncompaction 8 3,412,640(+) C/T coding_sequence_variant, stop_gained
rs1060501005 uncertain-significance, Left ventricular noncompaction 8 3,186,287(+) C/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs1060504134 likely-benign, Left ventricular noncompaction 8 3,414,602(+) G/A coding_sequence_variant, synonymous_variant

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

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

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

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

Disorders for PRDM16 Gene

MalaCards: The human disease database

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

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
myelodysplastic syndrome
  • mds
- 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}.

Additional Disease Information for PRDM16

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  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 4 22 58
  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 22 58
  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 58
  5. PRDM16 Suppresses MLL1r Leukemia via Intrinsic Histone Methyltransferase Activity. (PMID: 27151440) Zhou B … Dou Y (Molecular cell 2016) 2 3 58

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