Pnmt MGI Mouse Gene Detail - MGI:97724 - phenylethanolamine-N-methyltransferase

Symbol

Pnmt
Name

phenylethanolamine-N-methyltransferase
Synonyms

Pent

Feature Type

protein coding gene
IDs

MGI:97724
NCBI Gene: 18948
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr11:98277449-98279006 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 61.75 cM, cytoband D
Mapping Data

1 experiment

SNPs within 2kb

123 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_97724	protein coding gene	Chr11:98277276-98279007 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019057	protein coding gene	Chr11:100927211-100928948 (+)
A/J	MGP_AJ_G0019025	protein coding gene	Chr11:96733175-96734906 (+)
AKR/J	MGP_AKRJ_G0018995	protein coding gene	Chr11:99727805-99729536 (+)
BALB/cJ	MGP_BALBcJ_G0018998	protein coding gene	Chr11:97225288-97227019 (+)
C3H/HeJ	MGP_C3HHeJ_G0018812	protein coding gene	Chr11:99861703-99863440 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0019451	protein coding gene	Chr11:104007830-104009561 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017082	protein coding gene	Chr11:94172821-94174557 (+)
CAST/EiJ	MGP_CASTEiJ_G0018366	protein coding gene	Chr11:100736578-100740729 (+)
CBA/J	MGP_CBAJ_G0018783	protein coding gene	Chr11:108315947-108317678 (+)
DBA/2J	MGP_DBA2J_G0018891	protein coding gene	Chr11:96275493-96277483 (+)
FVB/NJ	MGP_FVBNJ_G0018880	protein coding gene	Chr11:95783629-95785366 (+)
LP/J	MGP_LPJ_G0018961	protein coding gene	Chr11:101405338-101407075 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018907	protein coding gene	Chr11:108118841-108120572 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019491	protein coding gene	Chr11:100055862-100057599 (+)
PWK/PhJ	MGP_PWKPhJ_G0018138	protein coding gene	Chr11:97282139-97283843 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0017928	protein coding gene	Chr11:99762472-99764216 (+)
WSB/EiJ	MGP_WSBEiJ_G0018416	protein coding gene	Chr11:99968609-99970341 (+)

Human Ortholog

PNMT, phenylethanolamine N-methyltransferase

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PNMT, phenylethanolamine N-methyltransferase
Synonyms

PENT, PNMTase
Links

HGNC:9160

NCBI Gene ID: 5409

neXtProt AC: NX_P11086

UniProt: P11086
Chr Location

17q12; chr17:39667981-39670475 (+) GRCh38

MGI Vertebrate Homology

Pnmt stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: PNMT
Protein SuperFamily

PNMTase
Gene Tree

Pnmt

Diseases

3 with human PNMT associations

				Human Disease	Mouse Models
				Alzheimer's disease IDs Alzheimer's disease DOID:10652 ICD10CM:G30 ICD9CM:331.0 KEGG:05010 MESH:D000544 NCI:C2866 UMLS_CUI:C0002395
				hypertension IDs hypertension DOID:10763 EFO:0000537 ICD10CM:I10 ICD9CM:401-405.99 ICD9CM:997.91 MESH:D006973 NCI:C3117 UMLS_CUI:C0020538
				multiple sclerosis IDs multiple sclerosis DOID:2377 ICD10CM:G35 ICD9CM:340 MESH:D009103 NCI:C3243 OMIM:612594 OMIM:612595 OMIM:612596 UMLS_CUI:C0026769

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

11 phenotypes from 4 alleles in 4 genetic backgrounds
33 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

7
Targeted

7
Genomic Mutations

1 involving Pnmt
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

13 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mice lack adrenal epinephrine and have increased adrenal norepinephrine levels but are viable and fertile.

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All GO Annotations

15
GO References

6

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

856
Tissues

124
cDNA Data

9
Literature Summary

31

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pnmt

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All Sequences

32
RefSeq

2
UniProt

2
CCDS

CCDS25347.1

Ensembl

ENSMUSG00000038216 (Evidence)
NCBI Gene

18948

			Length	Strain/Species	Flank
genomic	18948	NCBI Gene Model \| MGI Sequence Detail	1558	C57BL/6J	± kb
transcript	NM_008890	RefSeq \| MGI Sequence Detail	980	C57BL/6
polypeptide	P40935	UniProt \| EBI \| MGI Sequence Detail	295	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000012937 phenylethanolamine N-methyltransferase

(term hierarchy)
EC

2.1.1.28
InterPro Domains

IPR000940 Methyltransferase, NNMT/PNMT/TEMT

IPR025820 Methyltransferase NNMT/PNMT/TEMT, conserved site

IPR029063 S-adenosyl-L-methionine-dependent methyltransferase superfamily

IPR053384 SAM-dependent methyltransferase

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All nucleic 15

Genomic 3

cDNA 10

Primer pair 2

Microarray probesets 3

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MGD-MRK-13230, MGD-MRK-13546

Summaries

All 93

Developmental Gene Expression 31

Gene Ontology 6

Phenotypes 33
Earliest

J:1117 Morita S, et al., Organization and complete nucleotide sequence of the gene encoding mouse phenylethanolamine N-methyltransferase. Brain Res Mol Brain Res. 1992 May;13(4):313-9
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Pnmt:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr104736	Chr11:98277442-98277459 (+)	2 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24