PNMT - phenylethanolamine N-methyltransferase Gene

Also Known as PENT; PNMTase

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5409

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	References	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

PNMT Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PNMT	P11086	KLHL8	Homo sapiens	Q9P2G9-2	Y2H Prey Pooling	32296183
Intra	PNMT	P11086	KLHL8	Homo sapiens	Q9P2G9-2	Validated Y2H	32296183
Intra	PNMT	P11086	KLHL8	Homo sapiens	Q9P2G9-2	Y2H Array	32296183
Intra	PNMT	P11086	LNX1	Homo sapiens	Q8TBB1	Y2H Prey Pooling	32296183
Intra	PNMT	P11086	LNX1	Homo sapiens	Q8TBB1	Validated Y2H	32296183
Intra	PNMT	P11086	LNX1	Homo sapiens	Q8TBB1	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-142110	LY 78335	Inhibitor	99.19%	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
Others	PNMT	NCBI