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Aliases for PNMT Gene

Aliases for PNMT Gene

  • Phenylethanolamine N-Methyltransferase 2 3
  • Noradrenaline N-Methyltransferase 3 4
  • EC 2.1.1.28 4 63
  • PNMTase 3 4
  • PENT 3 4
  • Phenylethanolamine N-Methylase 3
  • EC 2.1.1 63

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 carbuncle and extra-adrenal pheochromocytoma. Among its related pathways are Metabolism and CDK-mediated phosphorylation and removal of Cdc6. 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 for PNMT Gene

  • Converts noradrenaline to adrenaline

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PNMT Gene

Genomics for PNMT Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PNMT Gene

Chromosome:
17
Start:
39,667,981 bp from pter
End:
39,670,475 bp from pter
Size:
2,495 bases
Orientation:
Plus strand

Genomic View for PNMT Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for PNMT Gene at MOPED

Selected DME Specific Peptides for PNMT Gene

Post-translational modifications for PNMT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PNMT Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for PNMT Gene

Suggested Antigen Peptide Sequences for PNMT Gene

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

No data available for Gene Families for PNMT Gene

Function for PNMT Gene

Molecular function for PNMT Gene

GENATLAS Biochemistry:
phenylethanolamine N-methyltransferase
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};
UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + phenylethanolamine = S-adenosyl-L-homocysteine + N-methylphenylethanolamine
UniProtKB/Swiss-Prot Function:
Converts noradrenaline to adrenaline

Enzyme Numbers (IUBMB) 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 IEA --
GO:0008168 methyltransferase activity --
genes like me logo Genes that share ontologies with PNMT: view
genes like me logo Genes that share phenotypes with PNMT: view

miRNA for PNMT Gene

miRTarBase miRNAs that target PNMT

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PNMT

In Situ Assay Products

Flow Cytometry Products

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

Localization for PNMT Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PNMT Gene COMPARTMENTS Subcellular localization image for PNMT gene
Compartment Confidence
cytosol 4
nucleus 2
cytoskeleton 1
extracellular 1
mitochondrion 1
plasma membrane 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 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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot P11086-PNMT_HUMAN

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

Interacting Proteins for PNMT Gene

Gene Ontology (GO) - Biological Process for PNMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032259 methylation IEA --
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0042418 epinephrine biosynthetic process IEA --
GO:0042423 catecholamine biosynthetic process TAS --
GO:0044281 small molecule metabolic 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

(33) Drugs for PNMT Gene - From: NovoSeek, HMDB, DrugBank, and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Epinephrine Approved Pharma 768
Norepinephrine Approved Pharma 206
S-Adenosylmethionine Approved Nutra 0
Clonidine Approved Pharma Partial agonist, Agonist 177
Dexamethasone Approved, Investigational Pharma Agonist 1806

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Hydroxyphenethylamine
  • 2-Amino-1-phenyl-1-ethanol
  • 2-Amino-1-phenylethanol
  • 2-Amino-1-phenylethanol-1
  • 2-Hydroxy-2-phenylethylamine
  • 2-Phenyl-2-hydroxyethylamine
7568-93-6
N-Methylphenylethanolamine
  • (+-)-alpha-((Methylamino)methyl)benzenemethanol
  • (+-)-Halostachine
  • 2-(Methylamino)-1-phenylethanol
  • 2-Methylamino-1-phenylethanol
  • alpha-((Methylamino)methyl)-dl-Benzyl alcohol
68579-60-2
1,2,3,4-tetrahydroisoquinoline
  • Tetrahydroisoquinoline
  • 1,2,3,4-Tetrahydro-2-azanaphthalene
  • 1,2,3,4-Tetrahydro-2-isoquinoline
  • 1,2,3,4-Tetrahydroisoquinoline
  • 1,2,3,4-Tetrahydroleucoline
14099-81-1
Amine
butyrate
genes like me logo Genes that share compounds with PNMT: view

Transcripts for PNMT Gene

mRNA/cDNA for PNMT Gene

Unigene Clusters for PNMT Gene

Phenylethanolamine N-methyltransferase:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PNMT

Flow Cytometry Products

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

No ASD Table

Relevant External Links for PNMT Gene

GeneLoc Exon Structure for
PNMT
ECgene alternative splicing isoforms for
PNMT

Expression for PNMT Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for PNMT Gene



SOURCE GeneReport for Unigene cluster for PNMT Gene Hs.1892

genes like me logo Genes that share expression patterns with PNMT: view

Protein tissue co-expression partners for PNMT Gene

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia PNMT 35
  • 88.17 (n)
  • 88.53 (a)
PNMT 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PNMT 35
  • 89.14 (n)
  • 88.89 (a)
PNMT 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pnmt 35
  • 83.03 (n)
  • 85.3 (a)
Pnmt 16
Pnmt 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PNMT 35
  • 99.17 (n)
  • 99.29 (a)
PNMT 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pnmt 35
  • 82.73 (n)
  • 84.53 (a)
oppossum
(Monodelphis domestica)
Mammalia PNMT 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PNMT 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves PNMT 35
  • 67.84 (n)
  • 65.23 (a)
PNMT 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PNMT 36
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pnmt 35
  • 66.02 (n)
  • 63.42 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100332609 35
  • 52.94 (n)
  • 47.45 (a)
worm
(Caenorhabditis elegans)
Secernentea anmt-1 36
  • 22 (a)
ManyToMany
anmt-2 36
  • 26 (a)
ManyToMany
anmt-3 36
  • 20 (a)
ManyToMany
Species with no ortholog for PNMT:
  • 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)
  • 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 squirt (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)

Paralogs for PNMT Gene

Paralogs for PNMT Gene

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

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

Variants for PNMT Gene

Sequence variations from dbSNP and Humsavar for PNMT Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs5638 -- 39,669,996(+) GTGAA(A/G)CGGGT reference, synonymous-codon, nc-transcript-variant
rs5639 - 39,670,102(+) CTGTG(A/T)GCCCA reference, missense, nc-transcript-variant
rs5640 - 39,670,172(+) GCACC(A/T)CCTCC missense, reference, nc-transcript-variant
rs5641 - 39,670,190(+) GGCCC(A/T)GGAGG missense, reference, nc-transcript-variant
rs5642 - 39,670,301(+) CCTCC(A/G)CACCT missense, reference, nc-transcript-variant

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

Variant ID Type Subtype PubMed ID
dgv40n68 CNV Loss 17160897
dgv3162n71 CNV Loss 21882294
nsv908207 CNV Loss 21882294
nsv457738 CNV Loss 19166990
nsv516757 CNV Loss 19592680
nsv908213 CNV Loss 21882294
nsv528093 CNV Loss 19592680
nsv908214 CNV Loss 21882294
nsv908215 CNV Loss 21882294

Variation tolerance for PNMT Gene

Residual Variation Intolerance Score: 64.81% 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)

Relevant External Links for PNMT Gene

HapMap Linkage Disequilibrium report
PNMT
Human Gene Mutation Database (HGMD)
PNMT

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

Disorders for PNMT Gene

MalaCards: The human disease database

(13) MalaCards diseases for PNMT Gene - From: DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
carbuncle
  • carbuncle and furuncle of foot
extra-adrenal pheochromocytoma
  • pheochromocytoma, extra-adrenal
critical illness polyneuropathy
  • polyneuropathy, critical illness
gamma heavy chain disease
  • franklin's disease
heavy chain disease
  • hcd
- elite association
Search PNMT in MalaCards View complete list of genes associated with diseases

Relevant External Links for PNMT

Genetic Association Database (GAD)
PNMT
Human Genome Epidemiology (HuGE) Navigator
PNMT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PNMT
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. Glucocorticoid treatment--effect on adrenal medullary catecholamine production. (PMID: 19503019) Sharara-Chami R.I. … Majzoub J.A. (Shock 2010) 23 67
  2. Conserved regulatory motifs at phenylethanolamine N-methyltransferase (PNMT) are disrupted by common functional genetic variation: an integrated computational/experimental approach. (PMID: 20204374) RodrA-guez-Flores J.L. … O'Connor D.T. (Mamm. Genome 2010) 23 67
  3. Phenylethanolamine N-methyltransferase gene polymorphisms and adverse outcomes in acute kidney injury. (PMID: 20090367) Alam A. … Jaber B.L. (Nephron Clin Pract 2010) 23 67
  4. Expression of estrogen receptor GPR30 in the rat spinal cord and in autonomic and sensory ganglia. (PMID: 19125412) Dun S.L. … Dun N.J. (J. Neurosci. Res. 2009) 23 67
  5. Time-dependent inactivation of human phenylethanolamine N-methyltransferase by 7-isothiocyanatotetrahydroisoquinoline. (PMID: 19171483) Wu Q. … McLeish M.J. (Bioorg. Med. Chem. Lett. 2009) 23 67

Products for PNMT Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • Pathway & Disease-focused RT² Profiler PCR Arrays
  • QIAGEN qRT-PCR Assays for microRNAs that regulate PNMT
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for PNMT
    • Block miRNA regulation of PNMT using miScript Target Protectors

    Sources for PNMT Gene

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