Pnpla2 MGI Mouse Gene Detail - MGI:1914103 - patatin-like phospholipase domain containing 2

Symbol

Pnpla2
Name

patatin-like phospholipase domain containing 2
Synonyms

0610039C21Rik, 1110001C14Rik, Atgl, desnutrin

Feature Type

protein coding gene
IDs

MGI:1914103
NCBI Gene: 66853
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr7:141035111-141040656 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 86.81 cM, cytoband F5
Mapping Data

3 experiments

SNPs within 2kb

159 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1914103	protein coding gene	Chr7:141035101-141040656 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0033232	protein coding gene	Chr7:146646506-146652045 (+)
A/J	MGP_AJ_G0033214	protein coding gene	Chr7:142452155-142457701 (+)
AKR/J	MGP_AKRJ_G0033146	protein coding gene	Chr7:146404217-146409759 (+)
BALB/cJ	MGP_BALBcJ_G0033215	protein coding gene	Chr7:142197635-142203209 (+)
C3H/HeJ	MGP_C3HHeJ_G0032929	protein coding gene	Chr7:146139607-146145156 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0033726	protein coding gene	Chr7:151997661-152004877 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0030699	protein coding gene	Chr7:143660419-143665955 (+)
CAST/EiJ	MGP_CASTEiJ_G0032259	protein coding gene	Chr7:138452354-138457897 (+)
CBA/J	MGP_CBAJ_G0032901	protein coding gene	Chr7:157159083-157164622 (+)
DBA/2J	MGP_DBA2J_G0033053	protein coding gene	Chr7:140397653-140403192 (+)
FVB/NJ	MGP_FVBNJ_G0033006	protein coding gene	Chr7:140311916-140317470 (+)
LP/J	MGP_LPJ_G0033148	protein coding gene	Chr7:148140559-148146129 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0033039	protein coding gene	Chr7:157792231-157797784 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0033746	protein coding gene	Chr7:145362016-145367562 (+)
PWK/PhJ	MGP_PWKPhJ_G0031963	protein coding gene	Chr7:133682719-133688311 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0031810	protein coding gene	Chr7:132195892-132201446 (+)
WSB/EiJ	MGP_WSBEiJ_G0032370	protein coding gene	Chr7:146310494-146316006 (+)

Human Ortholog

PNPLA2, patatin like phospholipase domain containing 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PNPLA2, patatin like phospholipase domain containing 2
Synonyms

1110001C14Rik, ATGL, FP17548, iPLA2zeta, PEDF-R, TTS2, TTS-2.2
Links

HGNC:30802

NCBI Gene ID: 57104

neXtProt AC: NX_Q96AD5

UniProt: Q96AD5
Chr Location

11p15.5; chr11:818914-825573 (+) GRCh38

MGI Vertebrate Homology

Pnpla2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PNPLA2
Gene Tree

Pnpla2

less

Phenotype Summary

85 phenotypes from 6 alleles in 8 genetic backgrounds
2 images
114 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

12
Endonuclease-mediated

4
Radiation induced

1
Targeted

5
Transgenic

2
Genomic Mutations

1 involving Pnpla2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

33 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for this targeted mutation have defects in lipolysis and altered energy metabolism. Triglyceride accumulation in cardiac muscle leads to severe cardiac dysfunction and mortality.

less

All GO Annotations

52
GO References

20

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.

less

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

722
Tissues

6
cDNA Data

200
Literature Summary

11

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pnpla2

ZFIN pnpla2

less

All Sequences

70
RefSeq

5
UniProt

4
CCDS

CCDS22015.1, CCDS52445.1

Ensembl

ENSMUSG00000025509 (Evidence)
NCBI Gene

66853

			Length	Strain/Species	Flank
genomic	ENSMUSG00000025509	Ensembl Gene Model \| MGI Sequence Detail	5546	C57BL/6J	± kb
transcript	ENSMUST00000164016	Ensembl \| MGI Sequence Detail	2625	Not Applicable
polypeptide	ENSMUSP00000127149	Ensembl \| MGI Sequence Detail	486	Not Applicable

less

UniProt

4 Sequences
Protein Ontology

PR:000012942 patatin-like phospholipase domain-containing protein 2

(term hierarchy)
EC

3.1.1.3, 3.1.1.4
InterPro Domains

IPR016035 Acyl transferase/acyl hydrolase/lysophospholipase

IPR002641 Patatin-like phospholipase domain

IPR033562 Patatin-like phospholipase domain-containing protein

IPR033903 Patatin-like phospholipase domain-containing protein 2
GlyGen

Q8BJ56 3 sites, 2 N-linked glycans (2 sites)

less

All nucleic 202

cDNA 200

Primer pair 2

Microarray probesets 4

less

MGI:1915801

Summaries

All 202

Developmental Gene Expression 11

Gene Ontology 20

Phenotypes 114
Earliest

J:65007 Cattanach BM, et al., Two imprinted gene mutations: three phenotypes. Hum Mol Genet. 2000 Sep 22;9(15):2263-73
Latest

J:353478 Farley A, et al., Activation of VGLL4 Suppresses Cardiomyocyte Maturational Hypertrophic Growth. Cells. 2024 Aug 13;13(16)

TSS for Pnpla2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr69965	Chr7:141035112-141035127 (+)	9 bp
Tssr69966	Chr7:141036915-141036922 (+)	1,808 bp
Tssr69967	Chr7:141036931-141036934 (+)	1,822 bp
Tssr69968	Chr7:141036945-141036979 (+)	1,851 bp
Tssr69969	Chr7:141037498-141037547 (+)	2,412 bp
Tssr69970	Chr7:141037911-141037922 (+)	2,806 bp
Tssr69971	Chr7:141037994-141038011 (+)	2,892 bp
Tssr69972	Chr7:141038765-141038775 (+)	3,659 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