PNPLA3 (patatin like phospholipase domain containing 3) - Rat Genome Database

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Gene: PNPLA3 (patatin like phospholipase domain containing 3) Homo sapiens
Analyze
Symbol: PNPLA3
Name: patatin like phospholipase domain containing 3
RGD ID: 1601958
HGNC Page HGNC
Description: Enables several functions, including acylglycerol O-acyltransferase activity; lipase activity; and long-chain fatty acyl-CoA binding activity. Involved in glycerolipid metabolic process; lipid droplet organization; and long-chain fatty acid metabolic process. Located in lipid droplet and membrane. Implicated in coronary artery disease; fatty liver disease (multiple); liver disease (multiple); and type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 1-acylglycerol-3-phosphate O-acyltransferase PNPLA3; acylglycerol O-acyltransferase; acylglycerol transacylase; adiponutrin; ADPN; C22orf20; calcium-independent phospholipase A2-epsilon; iPLA(2)epsilon; iPLA2-epsilon; iPLA2epsilon; lysophosphatidic acid acyltransferase; patatin-like phospholipase domain containing 3; patatin-like phospholipase domain-containing protein 3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2243,923,792 - 43,964,488 (+)EnsemblGRCh38hg38GRCh38
GRCh382243,923,805 - 43,947,582 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372244,319,685 - 44,343,462 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362242,650,952 - 42,674,781 (+)NCBINCBI36hg18NCBI36
Celera2228,230,136 - 28,255,047 (+)NCBI
Cytogenetic Map22q13.31NCBI
HuRef2227,273,880 - 27,298,036 (+)NCBIHuRef
CHM1_12244,278,349 - 44,302,177 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
6-(4-chlorophenyl)imidazo[2,1-b][1,3]thiazole-5-carbaldehyde O-(3,4-dichlorobenzyl)oxime  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (ISO)
aristolochic acid  (EXP)
arsenite(3-)  (EXP)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
bisphenol F  (EXP)
bromobenzene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
choline  (ISO)
cisplatin  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
decabromodiphenyl ether  (ISO)
dexamethasone  (EXP)
dicrotophos  (EXP)
dorsomorphin  (EXP)
endosulfan  (ISO)
enilconazole  (EXP)
entinostat  (EXP)
folic acid  (ISO)
furan  (ISO)
genistein  (ISO)
GW 4064  (ISO)
hexadecanoic acid  (EXP)
hydrogen peroxide  (EXP)
indometacin  (EXP)
isotretinoin  (EXP)
L-methionine  (ISO)
metformin  (ISO)
methotrexate  (EXP)
methylmercury chloride  (EXP)
monosodium L-glutamate  (ISO)
morphine  (ISO)
N-acetyl-L-cysteine  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
O-methyleugenol  (EXP)
oleic acid  (EXP)
paracetamol  (EXP,ISO)
perfluorononanoic acid  (EXP)
phenformin  (ISO)
phenobarbital  (EXP,ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propanal  (EXP)
quercetin  (EXP,ISO)
rotenone  (ISO)
rutin  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
thimerosal  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
Triptolide  (ISO)
troglitazone  (ISO)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vorinostat  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:10591208   PMID:12477932   PMID:12529303   PMID:15181042   PMID:15364929   PMID:15461802   PMID:15489334   PMID:16150821   PMID:16505250   PMID:16799181   PMID:18728122   PMID:18820647  
PMID:18940312   PMID:19029121   PMID:19224197   PMID:19239840   PMID:19390624   PMID:19524579   PMID:19542081   PMID:19596471   PMID:19651814   PMID:19729411   PMID:19738004   PMID:19844213  
PMID:19946271   PMID:20034933   PMID:20139978   PMID:20373368   PMID:20546964   PMID:20585554   PMID:20648472   PMID:20684021   PMID:20803499   PMID:20826584   PMID:20852027   PMID:20962157  
PMID:21036152   PMID:21145868   PMID:21168155   PMID:21168459   PMID:21176169   PMID:21236304   PMID:21254164   PMID:21281435   PMID:21334404   PMID:21381068   PMID:21423719   PMID:21488075  
PMID:21525193   PMID:21665509   PMID:21745282   PMID:21745286   PMID:21745307   PMID:21777557   PMID:21873635   PMID:21878620   PMID:21893698   PMID:21898508   PMID:21909109   PMID:21988832  
PMID:22001757   PMID:22087248   PMID:22105854   PMID:22140488   PMID:22141340   PMID:22162034   PMID:22189977   PMID:22258181   PMID:22276112   PMID:22314430   PMID:22338072   PMID:22530607  
PMID:22543885   PMID:22546774   PMID:22560221   PMID:22629460   PMID:22704398   PMID:22719190   PMID:22719876   PMID:22724004   PMID:22792295   PMID:22841784   PMID:22863562   PMID:22869157  
PMID:22878467   PMID:22884299   PMID:22898488   PMID:22978414   PMID:23032985   PMID:23042597   PMID:23069476   PMID:23155331   PMID:23176674   PMID:23226254   PMID:23278404   PMID:23333103  
PMID:23334462   PMID:23398201   PMID:23416328   PMID:23418085   PMID:23505555   PMID:23510779   PMID:23512881   PMID:23535911   PMID:23734760   PMID:23776098   PMID:23800943   PMID:23804528  
PMID:23808989   PMID:23859071   PMID:23872669   PMID:23913731   PMID:24005099   PMID:24009255   PMID:24069270   PMID:24102786   PMID:24123231   PMID:24152445   PMID:24155878   PMID:24222094  
PMID:24222941   PMID:24269995   PMID:24349054   PMID:24369119   PMID:24417250   PMID:24461483   PMID:24511104   PMID:24553484   PMID:24607626   PMID:24621583   PMID:24670599   PMID:24680680  
PMID:24689094   PMID:24763554   PMID:24785259   PMID:24828988   PMID:24905495   PMID:24916969   PMID:24917523   PMID:24927606   PMID:24947770   PMID:24947803   PMID:24972532   PMID:25040896  
PMID:25060292   PMID:25069572   PMID:25171251   PMID:25240529   PMID:25246029   PMID:25250621   PMID:25273282   PMID:25290313   PMID:25297933   PMID:25378656   PMID:25457210   PMID:25522307  
PMID:25536644   PMID:25543233   PMID:25581573   PMID:25624712   PMID:25646328   PMID:25655569   PMID:25676803   PMID:25776890   PMID:25791171   PMID:25801076   PMID:25939720   PMID:25964223  
PMID:25986529   PMID:26136587   PMID:26139292   PMID:26148225   PMID:26186194   PMID:26200108   PMID:26229402   PMID:26259026   PMID:26264356   PMID:26272871   PMID:26305067   PMID:26337813  
PMID:26352693   PMID:26355465   PMID:26379412   PMID:26419236   PMID:26439088   PMID:26482880   PMID:26485523   PMID:26493626   PMID:26519102   PMID:26599080   PMID:26605757   PMID:26610348  
PMID:26632699   PMID:26707313   PMID:26745088   PMID:26745555   PMID:26760234   PMID:26760575   PMID:26806136   PMID:26847197   PMID:27015186   PMID:27059980   PMID:27128907   PMID:27150500  
PMID:27288299   PMID:27411039   PMID:27514759   PMID:27527746   PMID:27537584   PMID:27575312   PMID:27576208   PMID:27596100   PMID:27615511   PMID:27742777   PMID:27744419   PMID:27752939  
PMID:27836992   PMID:27888630   PMID:27889599   PMID:27905898   PMID:27908400   PMID:27973562   PMID:28073161   PMID:28161471   PMID:28253210   PMID:28338112   PMID:28362682   PMID:28436986  
PMID:28514442   PMID:28520213   PMID:28544258   PMID:28617615   PMID:28626169   PMID:28695131   PMID:28744823   PMID:28776448   PMID:28797039   PMID:28928439   PMID:28950858   PMID:28975533  
PMID:29055919   PMID:29089161   PMID:29122391   PMID:29150621   PMID:29160303   PMID:29193269   PMID:29218813   PMID:29258449   PMID:29271184   PMID:29307798   PMID:29364097   PMID:29396131  
PMID:29469042   PMID:29474507   PMID:29493856   PMID:29535416   PMID:29577560   PMID:29578593   PMID:29648650   PMID:29956823   PMID:30021884   PMID:30032630   PMID:30132178   PMID:30139224  
PMID:30161167   PMID:30171718   PMID:30176114   PMID:30189691   PMID:30227635   PMID:30246767   PMID:30289982   PMID:30362098   PMID:30403964   PMID:30506232   PMID:30572387   PMID:30631154  
PMID:30649436   PMID:30672430   PMID:30673802   PMID:30701779   PMID:30710115   PMID:30762732   PMID:30763699   PMID:30772256   PMID:30852978   PMID:30912854   PMID:31054977   PMID:31054980  
PMID:31184438   PMID:31219225   PMID:31250467   PMID:31255630   PMID:31305457   PMID:31356578   PMID:31454802   PMID:31484215   PMID:31497752   PMID:31519069   PMID:31527889   PMID:31642820  
PMID:31669075   PMID:31677195   PMID:31705824   PMID:31793207   PMID:31826069   PMID:31851849   PMID:31945251   PMID:32020770   PMID:32043752   PMID:32068025   PMID:32093693   PMID:32173542  
PMID:32190914   PMID:32220085   PMID:32323349   PMID:32333362   PMID:32443539   PMID:32557704   PMID:32561908   PMID:32592869   PMID:32636123   PMID:32680469   PMID:32811452   PMID:32877766  
PMID:32898995   PMID:32910776   PMID:33218077   PMID:33228237   PMID:33306506   PMID:33565643   PMID:33622266   PMID:33652012   PMID:33685085   PMID:33896117   PMID:34106646   PMID:34198853  


Genomics

Comparative Map Data
PNPLA3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2243,923,792 - 43,964,488 (+)EnsemblGRCh38hg38GRCh38
GRCh382243,923,805 - 43,947,582 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372244,319,685 - 44,343,462 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362242,650,952 - 42,674,781 (+)NCBINCBI36hg18NCBI36
Celera2228,230,136 - 28,255,047 (+)NCBI
Cytogenetic Map22q13.31NCBI
HuRef2227,273,880 - 27,298,036 (+)NCBIHuRef
CHM1_12244,278,349 - 44,302,177 (+)NCBICHM1_1
Pnpla3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391584,051,977 - 84,073,722 (+)NCBIGRCm39mm39
GRCm39 Ensembl1584,052,038 - 84,071,437 (+)Ensembl
GRCm381584,167,776 - 84,189,521 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1584,167,837 - 84,187,236 (+)EnsemblGRCm38mm10GRCm38
MGSCv371583,998,246 - 84,019,951 (+)NCBIGRCm37mm9NCBIm37
MGSCv361583,995,603 - 84,017,280 (+)NCBImm8
Celera1586,298,497 - 86,320,441 (+)NCBICelera
Cytogenetic Map15E2NCBI
Pnpla3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27115,293,538 - 115,314,077 (+)NCBImRatBN7.2
Rnor_6.0 Ensembl7125,034,764 - 125,055,976 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07125,034,760 - 125,056,165 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07125,023,278 - 125,044,677 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47122,152,092 - 122,171,994 (+)NCBIRGSC3.4rn4RGSC3.4
Celera7111,599,483 - 111,620,054 (+)NCBICelera
Cytogenetic Map7q34NCBI
Pnpla3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541328,879,748 - 28,893,938 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541328,879,646 - 28,896,224 (+)NCBIChiLan1.0ChiLan1.0
PNPLA3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12243,004,329 - 43,027,749 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2243,004,499 - 43,027,003 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02224,812,831 - 24,836,161 (+)NCBIMhudiblu_PPA_v0panPan3
PNPLA3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11021,708,439 - 21,722,282 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1021,712,378 - 21,722,135 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1021,647,779 - 21,663,038 (-)NCBI
ROS_Cfam_1.01022,455,884 - 22,471,128 (-)NCBI
UMICH_Zoey_3.11022,175,366 - 22,190,635 (-)NCBI
UNSW_CanFamBas_1.01022,495,689 - 22,510,929 (-)NCBI
UU_Cfam_GSD_1.01022,669,488 - 22,684,748 (-)NCBI
Pnpla3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049455,341,850 - 5,360,187 (-)NCBI
SpeTri2.0NW_0049367181,620,034 - 1,638,315 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PNPLA3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl55,075,622 - 5,092,515 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.155,075,608 - 5,092,599 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
PNPLA3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11926,435,302 - 26,458,368 (+)NCBI
ChlSab1.1 Ensembl1926,435,599 - 26,462,210 (+)Ensembl
Vero_WHO_p1.0NW_02366604598,945,667 - 98,969,751 (-)NCBI

Position Markers
RH80030  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map12q15-q21UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2p22.2UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map11q22.2-q22.3UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map10q26.13-q26.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map2q32.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1743
Count of miRNA genes:856
Interacting mature miRNAs:1013
Transcripts:ENST00000216180, ENST00000406117, ENST00000423180, ENST00000478713, ENST00000497129
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 21 8 326 321 7 322 869 43 54 10 44 38 3 102 399
Low 314 173 261 265 396 137 2200 511 1241 227 582 780 139 1 910 1136 1
Below cutoff 1736 1962 1103 37 1054 6 1066 1267 2392 157 796 769 31 191 1032 4 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_025225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK025665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL023654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF581132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF581133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC171330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC175852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z97055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000216180   ⟹   ENSP00000216180
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2243,923,805 - 43,947,582 (+)Ensembl
RefSeq Acc Id: ENST00000406117   ⟹   ENSP00000384668
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2243,923,792 - 43,964,488 (+)Ensembl
RefSeq Acc Id: ENST00000423180   ⟹   ENSP00000397987
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2243,923,803 - 43,947,061 (+)Ensembl
RefSeq Acc Id: ENST00000478713
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2243,924,114 - 43,933,087 (+)Ensembl
RefSeq Acc Id: ENST00000497129
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2243,933,007 - 43,939,393 (+)Ensembl
RefSeq Acc Id: NM_025225   ⟹   NP_079501
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382243,923,805 - 43,947,582 (+)NCBI
GRCh372244,319,619 - 44,343,451 (+)NCBI
Build 362242,650,952 - 42,674,781 (+)NCBI Archive
HuRef2227,273,880 - 27,298,036 (+)ENTREZGENE
CHM1_12244,278,349 - 44,302,177 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_079501   ⟸   NM_025225
- UniProtKB: Q9NST1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000397987   ⟸   ENST00000423180
RefSeq Acc Id: ENSP00000216180   ⟸   ENST00000216180
RefSeq Acc Id: ENSP00000384668   ⟸   ENST00000406117
Protein Domains
PNPLA

Promoters
RGD ID:6800263
Promoter ID:HG_KWN:43138
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000406117,   NM_025225,   OTTHUMT00000318893,   UC010GZM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362242,650,581 - 42,651,157 (+)MPROMDB
RGD ID:13604360
Promoter ID:EPDNEW_H28364
Type:initiation region
Name:PNPLA3_1
Description:patatin like phospholipase domain containing 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382243,923,805 - 43,923,865EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|See cases [RCV000051370] Chr22:42138114..50739836 [GRCh38]
Chr22:42513525..51178264 [GRCh37]
Chr22:40843471..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1 copy number loss See cases [RCV000051371] Chr22:42433752..50738932 [GRCh38]
Chr22:42829758..51177360 [GRCh37]
Chr22:41159702..49524226 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1 copy number loss See cases [RCV000051407] Chr22:42826246..50739836 [GRCh38]
Chr22:43222252..51178264 [GRCh37]
Chr22:41552196..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1 copy number loss See cases [RCV000051408] Chr22:43807366..50739836 [GRCh38]
Chr22:44203246..51178264 [GRCh37]
Chr22:42534579..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3 copy number gain See cases [RCV000051686] Chr22:42599757..50725241 [GRCh38]
Chr22:42995763..51163669 [GRCh37]
Chr22:41325707..49510535 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3 copy number gain See cases [RCV000051687] Chr22:42653747..50739836 [GRCh38]
Chr22:43049753..51178264 [GRCh37]
Chr22:41379697..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31(chr22:43841416-44192863)x3 copy number gain See cases [RCV000052857] Chr22:43841416..44192863 [GRCh38]
Chr22:44237296..44588743 [GRCh37]
Chr22:42568629..42920076 [NCBI36]
Chr22:22q13.31
uncertain significance
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1 copy number loss See cases [RCV000135444] Chr22:43902561..50739836 [GRCh38]
Chr22:44298441..51178264 [GRCh37]
Chr22:42629774..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4 copy number gain See cases [RCV000135528] Chr22:42197923..47305564 [GRCh38]
Chr22:42593929..47701314 [GRCh37]
Chr22:40923873..46079978 [NCBI36]
Chr22:22q13.2-13.31
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 copy number loss See cases [RCV000136921] Chr22:41871143..50739836 [GRCh38]
Chr22:42267147..51178264 [GRCh37]
Chr22:40597093..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3 copy number gain See cases [RCV000137136] Chr22:42710276..50739836 [GRCh38]
Chr22:43106282..51178264 [GRCh37]
Chr22:41436226..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1 copy number loss See cases [RCV000136786] Chr22:42493445..50268479 [GRCh38]
Chr22:42889451..50706908 [GRCh37]
Chr22:41219395..49049035 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1 copy number loss See cases [RCV000141415] Chr22:42837094..50735806 [GRCh38]
Chr22:43233100..51174234 [GRCh37]
Chr22:41563044..49521100 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1 copy number loss See cases [RCV000140901] Chr22:43187980..50745444 [GRCh38]
Chr22:43583986..51183872 [GRCh37]
Chr22:41913930..49530738 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3 copy number gain See cases [RCV000141659] Chr22:42380961..50759410 [GRCh38]
Chr22:42776967..51197838 [GRCh37]
Chr22:41106911..49544704 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3 copy number gain See cases [RCV000142755] Chr22:42080077..50739836 [GRCh38]
Chr22:42476081..51178264 [GRCh37]
Chr22:40806027..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759) copy number loss 22q13.3 deletion syndrome [RCV000767745] Chr22:42416026..51181759 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
NM_025225.3(PNPLA3):c.972C>T (p.Leu324=) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000268132]|not provided [RCV000961763] Chr22:43937265 [GRCh38]
Chr22:44333145 [GRCh37]
Chr22:22q13.31
benign|likely benign
NM_025225.2(PNPLA3):c.-111G>A single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000270244] Chr22:43923801 [GRCh38]
Chr22:44319681 [GRCh37]
Chr22:22q13.31
likely benign
NM_025225.3(PNPLA3):c.992A>G (p.Glu331Gly) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000271818] Chr22:43940005 [GRCh38]
Chr22:44335885 [GRCh37]
Chr22:22q13.31
likely benign
NM_025225.3(PNPLA3):c.*988_*989dup duplication Susceptibility to Nonalcoholic Fatty Liver Disease [RCV000259914] Chr22:43947359..43947360 [GRCh38]
Chr22:44343239..44343240 [GRCh37]
Chr22:22q13.31
likely benign
NM_025225.3(PNPLA3):c.*889A>G single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000263661] Chr22:43947271 [GRCh38]
Chr22:44343151 [GRCh37]
Chr22:22q13.31
benign|likely benign
NM_025225.3(PNPLA3):c.*429T>C single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000307359] Chr22:43946811 [GRCh38]
Chr22:44342691 [GRCh37]
Chr22:22q13.31
benign|likely benign
NM_025225.3(PNPLA3):c.*747T>A single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000358440] Chr22:43947129 [GRCh38]
Chr22:44343009 [GRCh37]
Chr22:22q13.31
benign|likely benign
NM_025225.3(PNPLA3):c.659A>G (p.Tyr220Cys) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000360539] Chr22:43933050 [GRCh38]
Chr22:44328930 [GRCh37]
Chr22:22q13.31
likely benign|uncertain significance
NM_025225.3(PNPLA3):c.*1068C>T single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000275143] Chr22:43947450 [GRCh38]
Chr22:44343330 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.1300A>G (p.Lys434Glu) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000275317] Chr22:43946236 [GRCh38]
Chr22:44342116 [GRCh37]
Chr22:22q13.31
benign|likely benign
NM_025225.3(PNPLA3):c.980-14A>C single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000363832] Chr22:43939979 [GRCh38]
Chr22:44335859 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.*691_*692dup duplication Susceptibility to Nonalcoholic Fatty Liver Disease [RCV000396866] Chr22:43947061..43947062 [GRCh38]
Chr22:44342941..44342942 [GRCh37]
Chr22:22q13.31
likely benign
NM_025225.3(PNPLA3):c.1359C>G (p.Ser453Arg) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000278984]|not provided [RCV000882791] Chr22:43946295 [GRCh38]
Chr22:44342175 [GRCh37]
Chr22:22q13.31
benign|likely benign
NM_025225.3(PNPLA3):c.980-15A>C single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000306853] Chr22:43939978 [GRCh38]
Chr22:44335858 [GRCh37]
Chr22:22q13.31
likely benign
NM_025225.3(PNPLA3):c.-44C>G single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000327719] Chr22:43923868 [GRCh38]
Chr22:44319748 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.*19T>G single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000374722] Chr22:43946401 [GRCh38]
Chr22:44342281 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.2(PNPLA3):c.-168C>A single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000324080] Chr22:43923744 [GRCh38]
Chr22:44319624 [GRCh37]
Chr22:22q13.31
likely benign
NM_025225.3(PNPLA3):c.*987_*989dup duplication Susceptibility to Nonalcoholic Fatty Liver Disease [RCV000333769] Chr22:43947359..43947360 [GRCh38]
Chr22:44343239..44343240 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.1112+14G>A single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000329258] Chr22:43940139 [GRCh38]
Chr22:44336019 [GRCh37]
Chr22:22q13.31
likely benign|uncertain significance
NM_025225.3(PNPLA3):c.-40C>G single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000384602] Chr22:43923872 [GRCh38]
Chr22:44319752 [GRCh37]
Chr22:22q13.31
likely benign
NM_025225.3(PNPLA3):c.*989dup duplication Susceptibility to Nonalcoholic Fatty Liver Disease [RCV000355028] Chr22:43947359..43947360 [GRCh38]
Chr22:44343239..44343240 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.1340G>A (p.Arg447Gln) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000332852] Chr22:43946276 [GRCh38]
Chr22:44342156 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.*1175A>C single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000290627] Chr22:43947557 [GRCh38]
Chr22:44343437 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.343G>T (p.Gly115Cys) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000334729] Chr22:43927090 [GRCh38]
Chr22:44322970 [GRCh37]
Chr22:22q13.31
benign|likely benign
NM_025225.3(PNPLA3):c.295T>G (p.Cys99Gly) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000388153] Chr22:43927042 [GRCh38]
Chr22:44322922 [GRCh37]
Chr22:22q13.31
benign|likely benign
NM_025225.2(PNPLA3):c.-112A>T single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000381090] Chr22:43923800 [GRCh38]
Chr22:44319680 [GRCh37]
Chr22:22q13.31
likely benign
NM_025225.3(PNPLA3):c.187+12G>A single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000292176] Chr22:43924110 [GRCh38]
Chr22:44319990 [GRCh37]
Chr22:22q13.31
benign|likely benign
NM_025225.3(PNPLA3):c.*63C>T single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000292212] Chr22:43946445 [GRCh38]
Chr22:44342325 [GRCh37]
Chr22:22q13.31
benign|likely benign
NM_025225.3(PNPLA3):c.1419C>T (p.Pro473=) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000336423] Chr22:43946355 [GRCh38]
Chr22:44342235 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000338077]|not specified [RCV001449725] Chr22:43928850 [GRCh38]
Chr22:44324730 [GRCh37]
Chr22:22q13.31
benign|likely benign
NM_025225.3(PNPLA3):c.414C>T (p.Val138=) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000394383] Chr22:43927161 [GRCh38]
Chr22:44323041 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.561C>T (p.Phe187=) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000394397] Chr22:43932952 [GRCh38]
Chr22:44328832 [GRCh37]
Chr22:22q13.31
benign|likely benign
NM_025225.3(PNPLA3):c.*1090A>G single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000384972] Chr22:43947472 [GRCh38]
Chr22:44343352 [GRCh37]
Chr22:22q13.31
likely benign
NM_025225.3(PNPLA3):c.309G>A (p.Pro103=) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000296203]|not provided [RCV000888878] Chr22:43927056 [GRCh38]
Chr22:44322936 [GRCh37]
Chr22:22q13.31
benign|likely benign
NM_025225.3(PNPLA3):c.*626A>G single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000343550] Chr22:43947008 [GRCh38]
Chr22:44342888 [GRCh37]
Chr22:22q13.31
likely benign|uncertain significance
NM_025225.3(PNPLA3):c.1209C>T (p.Pro403=) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000386010] Chr22:43944787 [GRCh38]
Chr22:44340667 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000825505]|asparaginase response - Toxicity/ADR [RCV000660848]|cyclophosphamide response - Toxicity/ADR [RCV000660849]|daunorubicin response - Toxicity/ADR [RCV000660850]|prednisolone response - Toxicity/ADR [RCV000660851]|vincristine response - Toxicity/ADR [RCV000660852] Chr22:43928847 [GRCh38]
Chr22:44324727 [GRCh37]
Chr22:22q13.31
risk factor|benign|likely benign|drug response
NM_025225.3(PNPLA3):c.646A>C (p.Thr216Pro) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000303133] Chr22:43933037 [GRCh38]
Chr22:44328917 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.216T>C (p.Leu72=) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000349396] Chr22:43926963 [GRCh38]
Chr22:44322843 [GRCh37]
Chr22:22q13.31
likely benign|uncertain significance
NM_025225.3(PNPLA3):c.1358G>T (p.Ser453Ile) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000389671] Chr22:43946294 [GRCh38]
Chr22:44342174 [GRCh37]
Chr22:22q13.31
likely benign
NM_025225.3(PNPLA3):c.*707T>C single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000303848] Chr22:43947089 [GRCh38]
Chr22:44342969 [GRCh37]
Chr22:22q13.31
benign|likely benign
NM_025225.3(PNPLA3):c.*1076C>T single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000330406] Chr22:43947458 [GRCh38]
Chr22:44343338 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.*71T>G single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000347103] Chr22:43946453 [GRCh38]
Chr22:44342333 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.*141T>G single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000403959] Chr22:43946523 [GRCh38]
Chr22:44342403 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.*990T>A single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000369726] Chr22:43947372 [GRCh38]
Chr22:44343252 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.*960T>G single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000300138] Chr22:43947342 [GRCh38]
Chr22:44343222 [GRCh37]
Chr22:22q13.31
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1 copy number loss See cases [RCV000512121] Chr22:43381459..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43875989-51197838)x1 copy number loss See cases [RCV000511015] Chr22:43875989..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1 copy number loss See cases [RCV000511256] Chr22:43050743..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1 copy number loss See cases [RCV000510765] Chr22:42441918..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_025225.3(PNPLA3):c.885G>T (p.Arg295Ser) single nucleotide variant not provided [RCV000658945] Chr22:43937178 [GRCh38]
Chr22:44333058 [GRCh37]
Chr22:22q13.31
uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1 copy number loss not provided [RCV000684527] Chr22:43320284..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1 copy number loss not provided [RCV000684528] Chr22:43111156..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1 copy number loss not provided [RCV000684529] Chr22:42955616..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.31(chr22:44023172-44744568)x3 copy number gain not provided [RCV000684483] Chr22:44023172..44744568 [GRCh37]
Chr22:22q13.2-13.31
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1 copy number loss not provided [RCV000741989] Chr22:42151555..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_025225.3(PNPLA3):c.82T>C (p.Cys28Arg) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001148869] Chr22:43923993 [GRCh38]
Chr22:44319873 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.249C>T (p.Ile83=) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001148873] Chr22:43926996 [GRCh38]
Chr22:44322876 [GRCh37]
Chr22:22q13.31
likely benign
NM_025225.3(PNPLA3):c.1262C>T (p.Pro421Leu) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001148999] Chr22:43946198 [GRCh38]
Chr22:44342078 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.862G>A (p.Glu288Lys) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001146193] Chr22:43937155 [GRCh38]
Chr22:44333035 [GRCh37]
Chr22:22q13.31
likely benign
NM_025225.3(PNPLA3):c.801A>C (p.Glu267Asp) single nucleotide variant not provided [RCV000881691] Chr22:43937094 [GRCh38]
Chr22:44332974 [GRCh37]
Chr22:22q13.31
likely benign
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
NM_025225.3(PNPLA3):c.64del (p.His22fs) deletion Fatty liver disease, nonalcoholic 1 [RCV000778664] Chr22:43923974 [GRCh38]
Chr22:44319854 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.283C>T (p.Arg95Ter) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000778665] Chr22:43927030 [GRCh38]
Chr22:44322910 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.1186C>T (p.Arg396Ter) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV000778666] Chr22:43944764 [GRCh38]
Chr22:44340644 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.697-4A>T single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001146191] Chr22:43934602 [GRCh38]
Chr22:44330482 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.917G>A (p.Arg306His) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001146194] Chr22:43937210 [GRCh38]
Chr22:44333090 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.295T>C (p.Cys99Arg) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001150394] Chr22:43927042 [GRCh38]
Chr22:44322922 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.226G>A (p.Ala76Thr) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001148870] Chr22:43926973 [GRCh38]
Chr22:44322853 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.235C>T (p.Arg79Trp) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001148871] Chr22:43926982 [GRCh38]
Chr22:44322862 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.406G>C (p.Asp136His) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001150395] Chr22:43927153 [GRCh38]
Chr22:44323033 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.1091C>G (p.Ser364Cys) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001148997] Chr22:43940104 [GRCh38]
Chr22:44335984 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.1338G>A (p.Pro446=) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001150505] Chr22:43946274 [GRCh38]
Chr22:44342154 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.*812A>G single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001146318] Chr22:43947194 [GRCh38]
Chr22:44343074 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.1337C>T (p.Pro446Leu) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001150504] Chr22:43946273 [GRCh38]
Chr22:44342153 [GRCh37]
Chr22:22q13.31
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_025225.3(PNPLA3):c.494T>C (p.Val165Ala) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001144299] Chr22:43932885 [GRCh38]
Chr22:44328765 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.599C>T (p.Thr200Met) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001144301] Chr22:43932990 [GRCh38]
Chr22:44328870 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.*176G>A single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001144419] Chr22:43946558 [GRCh38]
Chr22:44342438 [GRCh37]
Chr22:22q13.31
uncertain significance
NC_000022.11:g.43923732C>T single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001146075] Chr22:43923732 [GRCh38]
Chr22:44319612 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.950T>A (p.Leu317Gln) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001146195] Chr22:43937243 [GRCh38]
Chr22:44333123 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.1112+13G>T single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001148998] Chr22:43940138 [GRCh38]
Chr22:44336018 [GRCh37]
Chr22:22q13.31
uncertain significance
NC_000022.11:g.43923781C>G single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001146076] Chr22:43923781 [GRCh38]
Chr22:44319661 [GRCh37]
Chr22:22q13.31
uncertain significance
NC_000022.11:g.43923804T>C single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001146077] Chr22:43923804 [GRCh38]
Chr22:44319684 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.679G>A (p.Val227Ile) single nucleotide variant not provided [RCV000958247] Chr22:43933070 [GRCh38]
Chr22:44328950 [GRCh37]
Chr22:22q13.31
benign
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33
pathogenic
NM_025225.3(PNPLA3):c.617A>C (p.Asp206Ala) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001144302] Chr22:43933008 [GRCh38]
Chr22:44328888 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.*346G>A single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001144422] Chr22:43946728 [GRCh38]
Chr22:44342608 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.*918G>A single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001149121] Chr22:43947300 [GRCh38]
Chr22:44343180 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.696+12G>A single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001146189] Chr22:43933099 [GRCh38]
Chr22:44328979 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.*448C>T single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001146316] Chr22:43946830 [GRCh38]
Chr22:44342710 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.557C>A (p.Pro186His) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001144300] Chr22:43932948 [GRCh38]
Chr22:44328828 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.*222G>A single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001144420] Chr22:43946604 [GRCh38]
Chr22:44342484 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.*275C>T single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001144421] Chr22:43946657 [GRCh38]
Chr22:44342537 [GRCh37]
Chr22:22q13.31
likely benign
NM_025225.3(PNPLA3):c.-69T>C single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001146078] Chr22:43923843 [GRCh38]
Chr22:44319723 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.697-5C>A single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001146190] Chr22:43934601 [GRCh38]
Chr22:44330481 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.711A>G (p.Ile237Met) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001146192] Chr22:43934620 [GRCh38]
Chr22:44330500 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.*393G>C single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001146315] Chr22:43946775 [GRCh38]
Chr22:44342655 [GRCh37]
Chr22:22q13.31
benign
NM_025225.3(PNPLA3):c.*760T>C single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001146317] Chr22:43947142 [GRCh38]
Chr22:44343022 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.236G>A (p.Arg79Gln) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001148872] Chr22:43926983 [GRCh38]
Chr22:44322863 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_025225.3(PNPLA3):c.484G>A (p.Val162Met) single nucleotide variant Fatty liver disease, nonalcoholic 1 [RCV001144298] Chr22:43928887 [GRCh38]
Chr22:44324767 [GRCh37]
Chr22:22q13.31
uncertain significance
Single allele deletion 22q13.3 deletion syndrome [RCV001254364] Chr22:43802117..50806121 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254356] Chr22:43032129..50739836 [GRCh38]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
Single allele deletion Intellectual disability [RCV001293376] Chr22:42333802..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18590 AgrOrtholog
COSMIC PNPLA3 COSMIC
Ensembl Genes ENSG00000100344 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000216180 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000384668 UniProtKB/TrEMBL
  ENSP00000397987 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000216180 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000406117 UniProtKB/TrEMBL
  ENST00000423180 UniProtKB/Swiss-Prot
GTEx ENSG00000100344 GTEx
HGNC ID HGNC:18590 ENTREZGENE
Human Proteome Map PNPLA3 Human Proteome Map
InterPro Acyl_Trfase/lysoPLipase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pat_PNPLA3 UniProtKB/Swiss-Prot
  PLPL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PNPLA_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:80339 UniProtKB/Swiss-Prot
NCBI Gene 80339 ENTREZGENE
OMIM 609567 OMIM
PANTHER PTHR12406 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Patatin UniProtKB/Swiss-Prot
PharmGKB PA38592 PharmGKB
PROSITE PNPLA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52151 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt F8W8E5_HUMAN UniProtKB/TrEMBL
  PLPL3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  U3N4F2_HUMAN UniProtKB/TrEMBL
  U3N901_HUMAN UniProtKB/TrEMBL
UniProt Secondary B0QYI0 UniProtKB/Swiss-Prot
  B2RCL3 UniProtKB/Swiss-Prot
  B3KW00 UniProtKB/Swiss-Prot
  Q6P1A1 UniProtKB/Swiss-Prot
  Q96CB4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 PNPLA3  patatin like phospholipase domain containing 3  PNPLA3  patatin-like phospholipase domain containing 3  Symbol and/or name change 5135510 APPROVED