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Aliases for PNMT Gene

Aliases for PNMT Gene

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

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 Carbuncle. Among its related pathways are Biogenic Amine Synthesis 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 for PNMT Gene

  • Converts noradrenaline to adrenaline.

Additional gene information for PNMT Gene

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

Genomics for PNMT Gene

GeneHancer (GH) Regulatory Elements for PNMT Gene

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
GH17J039658 Promoter/Enhancer 2.9 VISTA EPDnew FANTOM5 Ensembl ENCODE dbSUPER 650.7 -4.3 -4291 10.4 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC PNMT TCAP PGAP3 MSL1 STARD3 MED24 MED1 CDK12 LOC105371762 STAC2
GH17J039631 Enhancer 1.2 Ensembl ENCODE dbSUPER 12.6 -35.0 -34986 4 ELF3 PKNOX1 RAD21 ETS1 ZNF121 GLIS2 SCRT2 ZNF143 ZNF654 REST PGAP3 STARD3 PNMT TCAP NEUROD2 RNU6-233P ERBB2 PPP1R1B
GH17J040509 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 6.4 +843.7 843656 4.3 ARID4B KLF17 SIN3A DMAP1 THRB RARA ZSCAN5C RCOR1 FOS SMARCC1 IGFBP4 RPL23AP75 TOP2A CDC6 RARA PNMT TNS4 LOC105371773
GH17J039626 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 5.1 -39.9 -39873 3.7 HDAC1 MEIS2 KLF1 PKNOX1 SAP130 BACH1 ZIC2 ZNF48 HIC1 ZNF335 PPP1R1B STARD3 PGAP3 RAPGEFL1 PNMT
GH17J039362 Enhancer 0.8 Ensembl ENCODE 4.9 -303.3 -303317 3.4 HDGF ZNF639 MEIS2 PKNOX1 CEBPB CEBPG ZBTB40 ZNF592 ZNF316 ZNF766 GC17P039362 PGAP3 ENSG00000214546 PNMT STARD3 GC17M039369 FBXL20
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for PNMT Gene

Genomic Locations for PNMT Gene
chr17:39,667,981-39,670,475
(GRCh38/hg38)
Size:
2,495 bases
Orientation:
Plus strand
chr17:37,824,234-37,826,728
(GRCh37/hg19)
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

Post-translational modifications for PNMT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PNMT Gene

No data available for DME Specific Peptides for PNMT Gene

Domains & Families for PNMT Gene

Gene Families for PNMT Gene

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

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

Function for PNMT Gene

Molecular function for PNMT Gene

UniProtKB/Swiss-Prot Function:
Converts noradrenaline to adrenaline.
UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + phenylethanolamine = S-adenosyl-L-homocysteine + N-methylphenylethanolamine.
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:0008168 methyltransferase activity IEA --
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<tm1.1(KOMP)Vlcg>
  • Pnmt Pnmt<tm2.1Sne>

Animal Model Products

miRNA for PNMT Gene

miRTarBase miRNAs that target PNMT

Clone Products

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 5
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 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

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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Epinephrine Approved, Vet_approved Pharma 1095
Norepinephrine Approved Pharma 737
Levmetamfetamine Approved Pharma Enzyme 0
s-adenosylhomocysteine Experimental Pharma Target 0
(1R)-2-amino-1-[3-(trifluoromethyl)phenyl]ethanol Experimental Pharma Target 0

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

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
  • (+-)-a-((methylamino)Methyl)benzenemethanol
  • (+-)-α-((methylamino)methyl)benzenemethanol
  • 2-(methylamino)-1-Phenylethanol
68579-60-2
genes like me logo Genes that share compounds with PNMT: view

Transcripts for PNMT Gene

mRNA/cDNA for PNMT Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(26) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PNMT Gene

Phenylethanolamine N-methyltransferase:
Representative Sequences:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of PNMT Gene:

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(3.8)
genes like me logo Genes that share expression patterns with PNMT: view

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 34 33
  • 99.17 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PNMT 34 33
  • 89.14 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PNMT 34 33
  • 88.17 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pnmt 16 34 33
  • 83.03 (n)
rat
(Rattus norvegicus)
Mammalia Pnmt 33
  • 82.73 (n)
oppossum
(Monodelphis domestica)
Mammalia PNMT 34
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PNMT 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves PNMT 34 33
  • 67.84 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PNMT 34
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pnmt 33
  • 66.02 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100332609 33
  • 52.94 (n)
worm
(Caenorhabditis elegans)
Secernentea anmt-2 34
  • 26 (a)
ManyToMany
anmt-1 34
  • 22 (a)
ManyToMany
anmt-3 34
  • 20 (a)
ManyToMany
Species where no ortholog for PNMT 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PNMT: view image

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 from dbSNP and Humsavar for PNMT Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1053651 benign, likely-benign, not specified, Cardiovascular phenotype, Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant, Limb-Girdle Muscular Dystrophy, Recessive 39,666,058(+) A/C/G upstream_transcript_variant
rs147503632 uncertain-significance, not specified, Dilated cardiomyopathy 1N, Primary familial hypertrophic cardiomyopathy 39,665,994(+) G/A/C upstream_transcript_variant
rs149585781 uncertain-significance, pathogenic, not specified, Dilated cardiomyopathy 1N, Primary familial hypertrophic cardiomyopathy 39,666,063(+) G/A upstream_transcript_variant
rs185210946 uncertain-significance, Limb-Girdle Muscular Dystrophy, Recessive, Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant 39,666,401(+) G/A upstream_transcript_variant
rs3194794 likely-benign, Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant, Limb-Girdle Muscular Dystrophy, Recessive 39,666,486(+) G/A/C upstream_transcript_variant

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PNMT Gene

MalaCards: The human disease database

(12) MalaCards diseases for PNMT Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
extra-adrenal pheochromocytoma
  • extraadrenal pheochromocytoma
carbuncle
  • carbuncle and furuncle of any part of face except eye
von hippel-lindau syndrome
  • vhl
critical illness polyneuropathy
  • polyneuropathy, critical illness
heavy chain disease
  • hcd
- 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

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 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 44 58
  2. Human phenylethanolamine N-methyltransferase genetic polymorphisms and exercise-induced epinephrine release. (PMID: 18349382) Ji Y … Weinshilboum RM (Physiological genomics 2008) 3 22 44 58
  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 44 58
  4. 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 44 58
  5. 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 44 58

Products for PNMT Gene

Sources for PNMT Gene

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