PNMT - phenylethanolamine N-methyltransferase Gene

Homo sapiens

Also known as PENT; PNMTase

Gene ID: 5409 | Gene type: protein coding

About PNMT

Cytogenetic location: 17q12 Genomic coordinates (GRCh38): 17:39,668,019-39,670,475 (from NCBI)

This gene has 3 transcripts (splice variants), 216 orthologues, 2 paralogues and is associated with 1 phenotype. Biased expression in adrenal (RPKM 46.5) and fat (RPKM 2.1).

Summary

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]

PNMT Products(1)

mRNA	Protein	Name
NM_002686.4	NP_002677.1	phenylethanolamine N-methyltransferase

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables phenylethanolamine N-methyltransferase activity	IDA IDA: Inferred from direct assay	8812853	GOA
enables phenylethanolamine N-methyltransferase activity	IMP IMP: Inferred from mutant phenotype	16277617	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PNMT Protein Structure

NNMT_PNMT_TEMT

0
100
200
282 a.a.

Protein Preferred Names

Protein Names

phenylethanolamine N-methyltransferase

noradrenaline N-methyltransferase

Related Diseases

Diseases

Alias

Von Hippel-Lindau Syndrome

Von Hippel-Lindau Disease	Vhl
Vhl Syndrome	VHLS
Von Hippel-Lindau Syndrome, Modifier Of	Hippel Lindau Syndrome
Angiomatosis Retinae	Cerebelloretinal Angiomatosis, Familial
Hippel-Lindau Disease	Familial Cerebelloretinal Angiomatosis
Lindau Disease	VHLD

Multiple Endocrine Neoplasia

Men	Multiple Endocrine Adenomatosis
Multiple Endocrine Neoplasia Syndrome	Adenomatosis, Familial Endocrine
Endocrine Neoplasia, Multiple	Familial Endocrine Adenomatosis
Mea	Multiple Endocrine Neoplasms
Multiple Endocrine Neoplasia Type 1

Pheochromocytoma

Pheochromocytoma, Susceptibility To	Phaeochromocytoma
Adrenal Gland Chromaffin Paraganglioma	Adrenal Gland Chromaffinoma
Adrenal Gland Paraganglioma	Adrenal Gland Pheochromocytoma
Chromaffin Paraganglioma Of The Adrenal Gland	Intraadrenal Paraganglioma
PCC	Chromaffin Cell Tumor
Medullary Chromaffinoma	Medullary Paraganglioma
Pheochromoblastoma	Pheochromocytomas
Chromaffin Cell Neoplasm	Pheochromocytoma, Malignant

Paraganglioma

Chemodectoma	Glomus Body Tumor
Paragangliomas	Carotid Body Paraganglioma
Extra-Adrenal Paraganglioma

Extra-Adrenal Pheochromocytoma

Pheochromocytoma, Extra-Adrenal

Ganglioneuroma

Malignant Pheochromocytoma

Pheochromocytoma, Malignant

Adrenal Medulla Cancer

Adrenal Medulla Neoplasm	Adrenal Medulla Tumor
Malignant Neoplasm Of Adrenal Medulla	Malignant Tumor Of The Adrenal Medulla
Adrenal Medulla Carcinoma	Neoplasm Of Adrenal Medulla

Dopamine Beta-Hydroxylase Deficiency

Noradrenaline Deficiency	Norepinephrine Deficiency
Dopamine Beta Hydroxylase Deficiency	Congenital Dopamine Beta-Hydroxylase Deficiency
Dopamine Beta-Hydroxylase Deficiency, Congenital	Dopamine Β-Hydroxylase
Dbh Deficiency

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder	ADHD
Attention Deficit Disorder	Attention Deficit-Hyperactivity Disorder, Susceptibility To
Attention Deficit Disorder With Hyperactivity	Hyperkinetic Disorder
Hyperactivity Of Childhood	Attention-Deficit/Hyperactivity Disorder
Add	Addh
Attention Deficit	Attention Deficit Disorder Of Childhood With Hyperactivity
Attention Deficit Disorder With Hyperactivity Syndrome	Hyperkinetic Syndrome
Attention-Deficit Hyperactivity Disorder	Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type
Disturbance Of Activity And Attention	Disorder Of Activity And Attention
Adhd - [Attention Deficit Hyperactivity Disorder]	Hyperkinetic Disorders
Disorder Of Activity And Attention With Hyperkinesia	Attention Deficit Syndrome With Hyperactivity

Hypertension, Essential

Essential Hypertension	Hypertension
High Blood Pressure	Hypertension, Essential, Susceptibility To
Hypertensive Disease	Primary Hypertension
EHT	Hypertension, Salt-Sensitive Essential, Susceptibility To
Hyperpiesia	Idiopathic Hypertension
Hypertensive Disorder	Hypertension, Essential, Susceptibility To, 3
Hypertension, Essential 3	Hypertension, Essential, Salt-Sensitive
Hypertension, Essential, Susceptibility To, 6	Hypertension, Essential 6
Hypertension, Salt-Sensitive Essential	Hypertension, Susceptibility To
Hypertension, Essential, Susceptibility To, 4	Hypertension, Essential 4
Hypertension, Essential, Susceptibility To, 2	Hypertension, Essential 2
Hypertension, Essential, Susceptibility To, 1	Hypertension, Essential 1
Hypertension, Essential, Susceptibility To, 5	Hypertension, Essential 5
Htn	Vascular Hypertensive Disorder
Systemic Primary Arterial Hypertension	Hbp - [High Blood Pressure]
Systemic Arterial Hypertensive Disorder	Elevated Blood Pressure
Arterial Hypertension Nos	Hypertension Nos
Benign Hypertension	Systemic Arterial Hypertension
Systemic Hypertension	Artery Htn
Benign Htn	Vascular Htn
Vascular Hypertension	Cholesterol Hypertension
Cholesterol Htn	Idiopathic Htn
Malignant Hypertension	Malignant Htn
Raised Blood Pressure	Cardiovascular Hypertension
Primary Htn - [Hypertension]	High Arterial Tension
High Blood Pressure Disorder	Ht - [Hypertension]
Htn - [Hypertension]	Hypertensive Vascular Disease
Hypertensive Vascular Degeneration

Persistent Generalized Lymphadenopathy

Pgl	Persistant Generalized Lymphadenopathy

Multiple Endocrine Neoplasia, Type Iia

Multiple Endocrine Neoplasia Type 2a	Sipple Syndrome
Multiple Endocrine Neoplasia Type 2	MEN2A
Men2	Ptc Syndrome
Multiple Endocrine Neoplasia, Type 2	Multiple Endocrine Neoplasia Iia
Men 2a	Pheochromocytoma And Amyloid Producing Medullary Thyroid Carcinoma
Multiple Endocrine Neoplasia, Type 2a	Pheochromocytoma And Amyloid-Producing Medullary Thyroid Carcinoma
Multiple Endocrine Neoplasia Ii	Men2 Syndrome
Men-2a Syndrome	Multiple Neoplasia 2a
Multiple Neoplasia Type 2

Neurogenic Bowel

Sudden Infant Death Syndrome

SIDS	Sudden Infant Death Syndrome, Susceptibility To
Cot Death	Crib Death
Sudden Death Of Nonspecific Cause In Infancy	Sudden Infant Death
Death, Sudden, Syndrome, Infant

Peripheral Nervous System Benign Neoplasm

Autonomic Nervous System Benign Neoplasm

Aromatic L-Amino Acid Decarboxylase Deficiency

Aadc Deficiency	Dopa Decarboxylase Deficiency
Ddc Deficiency	Aromatic Amino Acid Decarboxylase Deficiency
Deficiency Of Aromatic-L-Amino-Acid Decarboxylase	AADCD
Aromatic-L-Amino-Acid Decarboxylase Deficiency	Aromatic L-Amino-Acid Decarboxylase Deficiency

Endocrine Organ Benign Neoplasm

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-107398	1-(2,3-Dichlorophenyl)ethanamine hydrochloride	Inhibitor	99.93%	Unkown
HY-113969	7,8-Dichloro-1,2,3,4-tetrahydroisoquinoline		/	Unkown
HY-149389	PNMT-IN-1	Inhibitor	/	Unkown
HY-RS10785	PNMT Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PNMT	VGNC	VGNC:33086
Canis familiaris	PNMT	VGNC	VGNC:49943
Rattus norvegicus	PNMT	RGD	RGD:3361
Felis catus	PNMT	VGNC	VGNC:68931
Mus musculus	PNMT	MGD	MGI:97724
Macaca mulatta	PNMT	VGNC	VGNC:104642
Canis lupus familiaris	PNMT	NCBI
Others	PNMT	NCBI

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