The product of this gene catalyzes the last step of the catecholamine biosynthesis pathway, which methylates norepinephrine to form epinephrine (adrenaline). The enzyme also has beta-carboline 2N-methyltransferase activity. This gene is thought to play a key step in regulating epinephrine production. Alternatively spliced transcript variants have been found for this gene. [prov... See more...

Aliases for PNMT Gene

Aliases for PNMT Gene

  • Phenylethanolamine N-Methyltransferase 2 3 4 5
  • Noradrenaline N-Methyltransferase 3 4
  • EC 2.1.1.28 4 50
  • PNMTase 3 4
  • PENT 3 4
  • Phenylethanolamine N-Methylase 3
  • EC 2.1.1 50
  • PNMT 5

External Ids for PNMT Gene

Previous HGNC Symbols for PNMT Gene

  • PENT

Previous GeneCards Identifiers for PNMT Gene

  • GC17P037324
  • GC17P039822
  • GC17P037734
  • GC17P038199
  • GC17P035078
  • GC17P037824
  • GC17P033618

Summaries for PNMT Gene

Entrez Gene Summary for PNMT Gene

  • The product of this gene catalyzes the last step of the catecholamine biosynthesis pathway, which methylates norepinephrine to form epinephrine (adrenaline). The enzyme also has beta-carboline 2N-methyltransferase activity. This gene is thought to play a key step in regulating epinephrine production. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012]

GeneCards Summary for PNMT Gene

PNMT (Phenylethanolamine N-Methyltransferase) is a Protein Coding gene. Diseases associated with PNMT include Extra-Adrenal Pheochromocytoma and Malignant Pheochromocytoma. Among its related pathways are noradrenaline and adrenaline degradation and Metabolism. Gene Ontology (GO) annotations related to this gene include methyltransferase activity and phenylethanolamine N-methyltransferase activity. An important paralog of this gene is NNMT.

UniProtKB/Swiss-Prot Summary for PNMT Gene

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

Genomics for PNMT Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PNMT 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
GH17J039662 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 250.7 -2.0 -1986 6.4 BCLAF1 ZNF207 NCOR1 MYC IKZF1 ZNF600 SSRP1 ZNF592 ZMYM3 POLR2A HSALNG0116265 PNMT TCAP MSL1 MED1 MED24 PGAP3 CDK12 LOC105371762 STARD3
GH17J039631 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 12.6 -35.1 -35093 4.2 ZNF654 IKZF1 ZIC2 CTCF REST ETS1 TRIM22 ZNF341 ZNF513 SAP130 PGAP3 STARD3 TCAP PNMT NEUROD2 RNU6-233P ERBB2 HSALNG0116260 lnc-NEUROD2-4 PPP1R1B
GH17J040509 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 6.4 +843.7 843656 4.3 CEBPA ZIC2 CEBPB CHD2 MAX EP300 SMAD4 SMC3 RARA STAT3 HSALNG0116371 piR-48373-008 IGFBP4 RPL23AP75 TOP2A CDC6 RARA TNS4 PNMT HSALNG0116372
GH17J039626 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 5.1 -39.9 -39873 3.7 ZIC2 FOXA1 SAP130 POLR2A HDAC2 HNF4A SCRT1 EGR1 ZNF48 ZSCAN29 PPP1R1B HSALNG0116260 STARD3 PGAP3 RAPGEFL1 PNMT
GH17J039362 Enhancer 0.6 ENCODE 4.9 -303.3 -303317 3.4 IKZF1 ZNF592 TBP ZNF316 ZNF318 SPI1 MYC ETV1 MAFK ZNF384 PGAP3 ENSG00000214546 PNMT STARD3 HSALNG0116237 piR-50443-167 FBXL20 STAC2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the PNMT gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA

Genomic Locations for PNMT Gene

Latest Assembly
chr17:39,667,981-39,670,475
(GRCh38/hg38)
Size:
2,495 bases
Orientation:
Plus strand

Previous Assembly
chr17:37,824,272-37,826,728
(GRCh37/hg19 by Entrez Gene)
Size:
2,457 bases
Orientation:
Plus strand

chr17:37,824,234-37,826,728
(GRCh37/hg19 by Ensembl)
Size:
2,495 bases
Orientation:
Plus strand

Genomic View for PNMT Gene

Genes around PNMT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PNMT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PNMT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PNMT Gene

Proteins for PNMT Gene

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

    Protein Symbol:
    P11086-PNMT_HUMAN
    Recommended name:
    Phenylethanolamine N-methyltransferase
    Protein Accession:
    P11086

    Protein attributes for PNMT Gene

    Size:
    282 amino acids
    Molecular mass:
    30855 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PNMT Gene

neXtProt entry for PNMT Gene

Selected DME Specific Peptides for PNMT Gene

P11086:
  • TGVDDVKG
  • FATGEVSG
  • PLPADALVSAFCLEAVSPDL
  • LIDIGSG
  • IGALEESWYLAGEARL

Post-translational modifications for PNMT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PNMT Gene

Antibodies for research

  • Abcam antibodies for PNMT
  • Santa Cruz Biotechnology (SCBT) Antibodies for PNMT

Domains & Families for PNMT Gene

Gene Families for PNMT Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PNMT Gene

InterPro:
Blocks:
  • Methyltransferase, NNMT/PNMT/TEMT family

Suggested Antigen Peptide Sequences for PNMT Gene

GenScript: Design optimal peptide antigens:
  • Noradrenaline N-methyltransferase (PNMT_HUMAN)
  • PNMT protein (Q6FHD9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P11086

UniProtKB/Swiss-Prot:

PNMT_HUMAN :
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. NNMT/PNMT/TEMT family.
Family:
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. NNMT/PNMT/TEMT family.
genes like me logo Genes that share domains with PNMT: view

Function for PNMT Gene

Molecular function for PNMT Gene

UniProtKB/Swiss-Prot Function:
Converts noradrenaline to adrenaline.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=phenylethanolamine + S-adenosyl-L-methionine = H(+) + N-methylphenylethanolamine + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:12176, ChEBI:CHEBI:15378, ChEBI:CHEBI:57741, ChEBI:CHEBI:57856, ChEBI:CHEBI:57946, ChEBI:CHEBI:59789; EC=2.1.1.28;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=99 uM for phenylethanolamine {ECO:0000269|PubMed:16363801}; KM=3.4 uM for S-adenosyl-L-methionine {ECO:0000269|PubMed:16363801};
GENATLAS Biochemistry:
phenylethanolamine N-methyltransferase

Enzyme Numbers (IUBMB) for PNMT Gene

Phenotypes From GWAS Catalog for PNMT Gene

Gene Ontology (GO) - Molecular Function for PNMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004603 phenylethanolamine N-methyltransferase activity TAS --
GO:0005515 protein binding IPI 32296183
GO:0008168 methyltransferase activity IEA --
GO:0008170 N-methyltransferase activity IBA 21873635
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with PNMT: view
genes like me logo Genes that share phenotypes with PNMT: view

Animal Models for PNMT Gene

MGI Knock Outs for PNMT:
  • Pnmt Pnmt<tm2.1Sne>
  • Pnmt Pnmt<tm1.1(KOMP)Vlcg>

miRNA for PNMT Gene

miRTarBase miRNAs that target PNMT

Inhibitory RNAs for research

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

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PNMT Gene

Localization for PNMT 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 PNMT gene
Compartment Confidence
cytosol 4
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PNMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PNMT: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for PNMT Gene

Pathways & Interactions for PNMT Gene

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

Pathways by source for PNMT Gene

2 KEGG pathways for PNMT Gene
1 GeneGo (Thomson Reuters) pathway for PNMT Gene
  • Tyrosine metabolism p.1 (dopamine)

UniProtKB/Swiss-Prot P11086-PNMT_HUMAN

  • Pathway: Catecholamine biosynthesis; (R)-adrenaline biosynthesis; (R)-adrenaline from (R)-noradrenaline: step 1/1.

Gene Ontology (GO) - Biological Process for PNMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032259 methylation IEA --
GO:0042418 epinephrine biosynthetic process IEA --
GO:0042423 catecholamine biosynthetic process TAS --
genes like me logo Genes that share ontologies with PNMT: view

No data available for SIGNOR curated interactions for PNMT Gene

Drugs & Compounds for PNMT Gene

(36) Drugs for PNMT Gene - From: DrugBank, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Epinephrine Approved, Vet_approved Pharma 1491
Norepinephrine Approved Pharma 1019
Levmetamfetamine Approved Pharma Enzyme, ligand 0
Methyldopa Approved Pharma Enzyme, substrate 19
s-adenosylhomocysteine Experimental Pharma Target 0

(11) Additional Compounds for PNMT Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-Amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
485-80-3
2-Hydroxyphenethylamine
  • 2-Amino-1-phenylethanol
  • 2-Hydroxy-2-phenylethylamine
  • 2-Phenyl-2-hydroxyethylamine
  • alpha-(Aminomethyl)benzyl alcohol
  • beta-Hydroxy-beta-phenylethylamine
7568-93-6
N-Methylphenylethanolamine
  • (+-)-alpha-((Methylamino)methyl)benzenemethanol
  • (+-)-Halostachine
  • alpha-[(Methylamino)methyl]-benzyl alcohol
  • (+-)-a-((Methylamino)methyl)benzenemethanol
  • (+-)-Α-((methylamino)methyl)benzenemethanol
68579-60-2

(1) ApexBio Compounds for PNMT Gene

Compound Action Cas Number
LY 78335 39959-66-5
genes like me logo Genes that share compounds with PNMT: view

Drug products for research

Transcripts for PNMT Gene

mRNA/cDNA for PNMT Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
3 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 PNMT

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

No ASD Table

Relevant External Links for PNMT Gene

GeneLoc Exon Structure for
PNMT

Expression for PNMT Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Adrenal Gland (x6.4).

Protein differential expression in normal tissues from HIPED for PNMT Gene

This gene is overexpressed in Adrenal (67.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PNMT Gene



Protein tissue co-expression partners for PNMT Gene

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

SOURCE GeneReport for Unigene cluster for PNMT Gene:

Hs.1892

Evidence on tissue expression from TISSUES for PNMT Gene

  • Nervous system(4.6)
  • Lung(4.1)
  • Adrenal gland(3.7)
  • Kidney(2)
genes like me logo Genes that share expression patterns with PNMT: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PNMT Gene

Orthologs for PNMT Gene

This gene was present in the common ancestor of animals.

Orthologs for PNMT Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PNMT 29 30
  • 99.17 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PNMT 29 30
  • 89.14 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PNMT 29 30
  • 88.17 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pnmt 29 16 30
  • 83.03 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pnmt 29
  • 82.73 (n)
Oppossum
(Monodelphis domestica)
Mammalia PNMT 30
  • 79 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PNMT 30
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PNMT 29 30
  • 67.84 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PNMT 30
  • 56 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pnmt 29
  • 66.02 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100332609 29
  • 52.94 (n)
Worm
(Caenorhabditis elegans)
Secernentea anmt-2 30
  • 26 (a)
ManyToMany
anmt-1 30
  • 22 (a)
ManyToMany
anmt-3 30
  • 20 (a)
ManyToMany
Species where no ortholog for PNMT 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)
  • Baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 Squirt (Ciona savignyi)
  • 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 PNMT Gene

ENSEMBL:
Gene Tree for PNMT (if available)
TreeFam:
Gene Tree for PNMT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PNMT: view image
Alliance of Genome Resources:
Additional Orthologs for PNMT

Paralogs for PNMT Gene

Paralogs for PNMT Gene

(3) SIMAP similar genes for PNMT Gene using alignment to 4 proteins:

  • PNMT_HUMAN
  • A8MT87_HUMAN
  • J3QRI3_HUMAN
  • Q6FHD9_HUMAN
genes like me logo Genes that share paralogs with PNMT: view

Variants for PNMT Gene

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

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs34341496 Benign: not provided 39,670,063(+) G/Ap.Ala175Thr
NM_002686.4(PNMT):c.523G>A (p.Ala175Thr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs62639962 Benign: not provided 39,668,598(+) G/A
NM_002686.4(PNMT):c.123G>A (p.Ala41=)
SYNONYMOUS
rs11569781 -- p.Asn9Ser
rs34530498 -- p.Arg112Cys
rs36060376 -- p.Thr98Ala

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

Variant ID Type Subtype PubMed ID
dgv40n68 CNV loss 17160897
nsv1070403 CNV deletion 25765185
nsv1146669 OTHER inversion 26484159
nsv457738 CNV loss 19166990
nsv516757 CNV loss 19592680
nsv528093 CNV loss 19592680
nsv574991 CNV loss 21841781

Variation tolerance for PNMT Gene

Residual Variation Intolerance Score: 64.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.22; 24.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PNMT Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for PNMT Gene

MalaCards: The human disease database

(19) MalaCards diseases for PNMT Gene - From: COP and GCD

Disorder Aliases PubMed IDs
extra-adrenal pheochromocytoma
  • pheochromocytoma, extra-adrenal
malignant pheochromocytoma
  • pheochromocytoma, malignant
von hippel-lindau syndrome
  • vhls
multiple endocrine neoplasia
  • multiple endocrine adenomatosis
pheochromocytoma
  • pheochromocytoma, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search PNMT in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PNMT

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 PNMT: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PNMT Gene

Publications for PNMT Gene

  1. Phenylethanolamine N-methyltransferase gene polymorphisms and adverse outcomes in acute kidney injury. (PMID: 20090367) Alam A … Jaber BL (Nephron. Clinical practice 2010) 3 22 40
  2. Association study between reward dependence temperament and a polymorphism in the phenylethanolamine N-methyltransferase gene in a Japanese female population. (PMID: 18702937) Yamano E … Kosugi S (Comprehensive psychiatry 2008) 3 22 40
  3. Effects of functional polymorphisms related to catecholaminergic systems on changes in blood catecholamine and cardiovascular measures after alcohol ingestion in the Japanese population. (PMID: 18715275) Nishimura FT … Saijoh K (Alcoholism, clinical and experimental research 2008) 3 22 40
  4. The influence of serotonin- and other genes on impulsive behavioral aggression and cognitive impulsivity in children with attention-deficit/hyperactivity disorder (ADHD): Findings from a family-based association test (FBAT) analysis. (PMID: 18937842) Oades RD … Asherson P (Behavioral and brain functions : BBF 2008) 3 22 40
  5. Human phenylethanolamine N-methyltransferase genetic polymorphisms and exercise-induced epinephrine release. (PMID: 18349382) Ji Y … Weinshilboum RM (Physiological genomics 2008) 3 22 40

Products for PNMT Gene

Sources for PNMT Gene