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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
External Ids for PRDM16 Gene
- HGNC: 14000
- Entrez Gene: 63976
- Ensembl: ENSG00000142611
- OMIM: 605557
- UniProtKB: Q9HAZ2
Previous GeneCards Identifiers for PRDM16 Gene
- GC01P002423
- GC01P002942
- GC01P002559
- GC01P002768
- GC01P003008
- GC01P002280
Summaries 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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. 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 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).
Additional gene information for PRDM16 Gene
- HGNC(14000)
- Entrez Gene(63976)
- Ensembl(ENSG00000142611)
- OMIM(605557)
- UniProtKB(Q9HAZ2)
- Open Targets Platform(ENSG00000142611)
- Monarch Initiative
- Search for PRDM16 at DataMed
- Search for PRDM16 at HumanCyc
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
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
Genomic Locations for PRDM16 Gene
- chr1:3,069,168-3,438,621
- (GRCh38/hg38)
- Size:
- 369,454 bases
- Orientation:
- Plus strand
- chr1:2,985,732-3,355,185
- (GRCh37/hg19)
- 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:
-
- 1p36.32 by HGNC
- 1p36.32 by Entrez Gene
- 1p36.32 by Ensembl
PRDM16 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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:
- Histone-lysine N-methyltransferase PRDM16
- Protein Accession:
- Q9HAZ2
- 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.
Protein Expression for PRDM16 Gene
Post-translational modifications for PRDM16 Gene
Other Protein References for PRDM16 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-PRDM16 polyclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for PRDM16
- Novus Biologicals Antibodies for PRDM16
-
Abcam antibodies for PRDM16
- Invitrogen Antibodies for PRDM16 (AFLGC-PRDM16)
-
Boster Bio Antibodies for PRDM16
-
Custom Antibody ServicesProSci Antibodies for PRDM16
-
Santa Cruz Biotechnology (SCBT) Antibodies for PRDM16
Protein Products
- Creative Biomart Recombinant Human PRDM16, His-tagged
-
OriGene Purified Proteins for PRDM16
- Search Origene for MassSpec and Protein Over-expression Lysates for PRDM16
- Origene Custom Protein Services for PRDM16
- Novus Biologicals proteins for PRDM16
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:
- ProtoNet:
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- Family:
-
- Belongs to the PRDM16 family.
Function for PRDM16 Gene
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; Evidence={ECO:0000250|UniProtKB:A2A935};.
Enzyme Numbers (IUBMB) for PRDM16 Gene
Phenotypes From GWAS Catalog for PRDM16 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003676 | nucleic acid binding | IEA | -- |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003712 | transcription coregulator activity | IBA | 21873635 |
| GO:0003713 | transcription coactivator activity | IEA,ISS | -- |
| GO:0005515 | protein binding | IPI | 19049980 |
Phenotypes for PRDM16 Gene
- MGI mutant phenotypes for PRDM16:
-
inferred from 3 alleles
- nervous system phenotype
- immune system phenotype
- respiratory system phenotype
- normal phenotype
- cardiovascular system phenotype
- cellular phenotype
- mortality/aging
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- liver/biliary system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- vision/eye phenotype
- skeleton phenotype
- hematopoietic system phenotype
- integument phenotype
- craniofacial phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for PRDM16:
Animal Model Products
-
Taconic Biosciences Mouse Models for PRDM16
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PRDM16 - Select products 50% OFF >
- * PRDM16 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PRDM16
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PRDM16
-
Santa Cruz Biotechnology (SCBT) CRISPR for PRDM16
miRNA for PRDM16 Gene
- miRTarBase miRNAs that target PRDM16
-
- hsa-miR-133b (MIRT007382)
- hsa-miR-133a-3p (MIRT007383)
- hsa-miR-96-5p (MIRT027926)
- hsa-miR-615-3p (MIRT040152)
- hsa-miR-346 (MIRT042704)
- hsa-miR-221-3p (MIRT046957)
- mmu-miR-133a-3p (MIRT053603)
- mmu-miR-27a-5p (MIRT054494)
- mmu-miR-150-5p (MIRT438709)
- mmu-miR-669f-3p (MIRT589223)
- mmu-miR-129-5p (MIRT589224)
- mmu-miR-149-5p (MIRT732632)
- hsa-miR-101-3p (MIRT733401)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PRDM16
- Browse OriGene Inhibitory RNA Products For PRDM16
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRDM16
Clone Products
- Applied Biological Materials (abm): Clones for PRDM16 - Select products 50% OFF >
- * PRDM16 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG211758
- MG222596
- MR211758
- MR211758L3
- MR211758L4
- MR222596
- MR222596L3
- MR222596L4
- MR231658
- MR231747
- RC211534
- RC211534L3
- RC211534L4
- RC214026
- RC214026L1
- RC214026L2
- RC214026L3
- RC214026L4
- RG211534
- RG214026
- MR211758L3V
- MR211758L4V
- MR222596L3V
- MR222596L4V
- RC211534L3V
- RC211534L4V
- RC214026L1V
- RC214026L2V
- RC214026L3V
- RC214026L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PRDM16
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PRDM16
Cell Line Products
-
Horizon Cell Lines for PRDM16
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.
| 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 |
- Nucleoplasm (3)
| 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 | -- |
Pathways & Interactions for PRDM16 Gene
Pathways by source for PRDM16 Gene
2 BioSystems pathways for PRDM16 Gene
3 Reactome pathways for PRDM16 Gene
1 KEGG pathway for PRDM16 Gene
Interacting Proteins for PRDM16 Gene
Selected Interacting proteins:
Q9HAZ2-PRD16_HUMAN
ENSP00000270722
for PRDM16 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for PRDM16
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA,IDA | 19049980 |
| GO:0006355 | regulation of transcription, DNA-templated | IBA | 21873635 |
| GO:0010468 | regulation of gene expression | IBA | 21873635 |
| GO:0019827 | stem cell population maintenance | IEA | -- |
| GO:0022008 | neurogenesis | IEA | -- |
Drugs & Compounds for PRDM16 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|
Drug Products
- Creative Biomart Recombinant Human PRDM16, His-tagged
Transcripts for PRDM16 Gene
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 :
-
- ENST00000270722 8698 nts (view in UCSC)
- ENST00000378389 1142 nts (view in UCSC)
- ENST00000378391 5447 nts (view in UCSC)
- ENST00000463591 384 nts (view in UCSC)
- ENST00000509860 3737 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PRDM16 - Select products 50% OFF >
- * PRDM16 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PRDM16
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PRDM16
-
Santa Cruz Biotechnology (SCBT) CRISPR for PRDM16
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PRDM16
- Browse OriGene Inhibitory RNA Products For PRDM16
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRDM16
Clone Products
- Applied Biological Materials (abm): Clones for PRDM16 - Select products 50% OFF >
- * PRDM16 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG211758
- MG222596
- MR211758
- MR211758L3
- MR211758L4
- MR222596
- MR222596L3
- MR222596L4
- MR231658
- MR231747
- RC211534
- RC211534L3
- RC211534L4
- RC214026
- RC214026L1
- RC214026L2
- RC214026L3
- RC214026L4
- RG211534
- RG214026
- MR211758L3V
- MR211758L4V
- MR222596L3V
- MR222596L4V
- RC211534L3V
- RC211534L4V
- RC214026L1V
- RC214026L2V
- RC214026L3V
- RC214026L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PRDM16
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PRDM16
Relevant External Links for PRDM16 Gene
- GeneLoc Exon Structure for
- PRDM16
Expression for PRDM16 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Adipose (Muscoskeletal System)
- Lumbar Brown Adipocyte Cells Lumbar Brown Adipose Depot
- Thoracic Committed Brown Preadipocytes Thoracic Brown Adipose Depot
- Lumbar Committed Brown Preadipocytes Lumbar Brown Adipose Depot
- Cervical Brown Adipocyte Cells Cervical Brown Adipose Depot
- Thoracic Brown Adipocyte Cells Thoracic Brown Adipose Depot
-
Eye (Sensory Organs)
- GABAergic Amacrine Cells Inner Nuclear Layer
-
Neurons
- GABAergic Amacrine Cells Inner Nuclear Layer
-
Limb (Muscoskeletal System)
- Limb Muscle Progenitor Cells Forelimb Myotome
-
Skeletal Muscle (Muscoskeletal System)
- Limb Muscle Progenitor Cells Forelimb Myotome
-
Blood (Hematopoietic System)
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
- NULL (Uncategorized)
- Bone (Muscoskeletal System)
- Cartilage (Muscoskeletal System)
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).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PRDM16
SOURCE GeneReport for Unigene cluster for PRDM16 Gene:
Hs.99500mRNA 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(4.5)
- Muscle(2.5)
- Skin(2.4)
- Heart(2.3)
- Intestine(2.3)
- Blood(2.3)
- Kidney(2.2)
- Thyroid gland(2.2)
- Pancreas(2.2)
- Liver(2.2)
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
Primer Products
-
OriGene qPCR primer pairs for PRDM16
Gene Expression Assay Products
Orthologs for PRDM16 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PRDM16 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PRDM16 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PRDM16 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Prdm16 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Prdm16 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PRDM16 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | PRDM16 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | PRDM16 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PRDM16 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | prdm16 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | prdm16 30 31 |
|
OneToOne | |
| wufc09g08 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG10348 31 32 |
|
ManyToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | egl-43 31 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MSN2 31 |
|
ManyToMany | |
| MSN4 31 |
|
ManyToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
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
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
- kr-znf3
- ZNF72
- ZFS-5
- ZSCAN31
- ZFS-4
- DKFZp686N0199
- EVI1
- ZNF78L1
- ZNF55
- MECOM
- ZNF75A
- ZIC1
- ZFP64
- KLF1
- GZF1
- zf30
- DKFZp686O1631
- ZNF
- HZF16
- ZNF22
- ZFP41
- A-328A3.4
- ZNF808
- ZNF600
- ZNF56
- ZNF525
- PLZF
- HZF17
- ZNF876P
- ZNF331
- ZKSCAN1
- ZFS-2
- DKFZp686M04222
- smap-7
- ZNF702P
- ZNF581
- ZNF391
- ZFS-6
- OVOL3
- HZF40
- HZF30
- DKFZp547H249
- ZNF660
- ZNF570
- ZNF501
- ZNF468
- ZNF323
- HZF36
- DKFZp434J0650
- DKFZp313M0722
- ZNF844
- ZNF833P
- ZNF778
- ZNF726P1
- ZNF710
- ZNF697
- ZNF234
- ZNF2
- ZNF138
- ZNF137P
- ZBTB17
- PRDM5
- DKFZp686D2168
- ZNF664
- ZNF558
- ZNF83
- ZNF80
- ZNF585B
- ZNF566
- ZNF146
- ZNF140
- Nbla00121
- DKFZp762K012
- DKFZp666M039
- DKFZp666C237
- DKFZp570I0164
- DKFZp434G1930
- ZNF589
Variants for PRDM16 Gene
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 |
|---|---|---|---|---|---|
| 573594 | Uncertain Significance: Left ventricular noncompaction 8 | 3,412,425(+) | GA/TC | MISSENSE_VARIANT | |
| 636727 | Uncertain Significance: not provided | 3,396,481(+) | T/G | INTRON_VARIANT | |
| 636819 | Uncertain Significance: not provided | 3,433,713(+) | C/G | MISSENSE_VARIANT,INTRON_VARIANT | |
| 638814 | Uncertain Significance: Left ventricular noncompaction 8 | 3,412,151(+) | G/A | MISSENSE_VARIANT | |
| 638957 | Uncertain Significance: Left ventricular noncompaction 8 | 3,186,299(+) | CT/C | FRAMESHIFT_VARIANT |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRDM16 Gene
Disorders for PRDM16 Gene
(22) MalaCards diseases for PRDM16 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| left ventricular noncompaction 8 |
|
|
| left ventricular noncompaction |
|
|
| familial isolated dilated cardiomyopathy |
|
|
| chromosome 1p36 deletion syndrome |
|
|
| myelodysplastic syndrome |
|
Search PRDM16 in MalaCards
View complete list of genes associated with diseases
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 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. {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
- Open Targets Platform
No data available for Genatlas for PRDM16 Gene
Publications for PRDM16 Gene
- 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
- 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
- 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 23
- 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
- PRDM16 Suppresses MLL1r Leukemia via Intrinsic Histone Methyltransferase Activity. (PMID: 27151440) Zhou B … Dou Y (Molecular cell 2016) 2 3
ExternalLinks
Products for PRDM16 Gene
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Sources for PRDM16 Gene
- (1) GeneCards
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