PLA2G3 (phospholipase A2 group III) - Rat Genome Database

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Gene: PLA2G3 (phospholipase A2 group III) Homo sapiens
Analyze
Symbol: PLA2G3
Name: phospholipase A2 group III
RGD ID: 1313284
HGNC Page HGNC:17934
Description: Enables calcium-dependent phospholipase A2 activity. Involved in several processes, including glycerophospholipid metabolic process; plasma lipoprotein particle remodeling; and regulation of vesicle-mediated transport. Acts upstream of or within negative regulation of gene expression. Located in centriole and recycling endosome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: GIII sPLA2; GIII-SPLA2; group 3 secretory phospholipase A2; group III secreted phospholipase A2; group III secretory phospholipase A2; phosphatidylcholine 2-acylhydrolase 3; phosphatidylcholine 2-acylhydrolase GIII; phospholipase A2, group III; sPLA2-III; SPLA2III
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382231,134,807 - 31,140,508 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2231,134,807 - 31,140,508 (-)EnsemblGRCh38hg38GRCh38
GRCh372231,530,793 - 31,536,494 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362229,860,793 - 29,866,469 (-)NCBINCBI36Build 36hg18NCBI36
Build 342229,855,346 - 29,861,023NCBI
Celera2215,330,868 - 15,336,544 (-)NCBICelera
Cytogenetic Map22q12.2NCBI
HuRef2214,492,451 - 14,498,127 (-)NCBIHuRef
CHM1_12231,490,658 - 31,496,334 (-)NCBICHM1_1
T2T-CHM13v2.02231,598,311 - 31,604,012 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
acrosome assembly  (IEA,ISO)
arachidonate secretion  (IEA)
cell development  (IEA,ISO)
cell maturation  (IEA,ISO)
cell projection organization  (IEA)
cilium assembly  (IMP)
high-density lipoprotein particle remodeling  (IDA)
lipid metabolic process  (IEA)
lipoxygenase pathway  (IEA,ISO)
low-density lipoprotein particle remodeling  (IDA)
macrophage activation  (IEA,ISO)
mast cell degranulation  (IEA,ISO)
negative regulation of amyloid-beta clearance  (IEA,ISO)
negative regulation of gene expression  (IDA,IEA)
negative regulation of neuron apoptotic process  (IMP)
phosphatidic acid metabolic process  (IDA)
phosphatidylcholine metabolic process  (IDA,IEA,ISO)
phosphatidylethanolamine metabolic process  (IDA)
phosphatidylglycerol metabolic process  (IDA)
phosphatidylinositol metabolic process  (IDA)
phosphatidylserine metabolic process  (IDA)
phospholipid metabolic process  (IEA,ISO,TAS)
positive regulation of cytokine production involved in inflammatory response  (IEA,ISO)
positive regulation of histamine secretion by mast cell  (IDA,IEA)
positive regulation of macrophage derived foam cell differentiation  (IDA)
positive regulation of mast cell differentiation  (IEA)
positive regulation of neuron projection development  (IEA,IMP)
positive regulation of prostaglandin biosynthetic process  (IDA,IEA)
positive regulation of prostaglandin secretion  (IEA,ISO)
production of molecular mediator involved in inflammatory response  (IEA,ISO)
regulation of endocytic recycling  (IMP)
sperm axoneme assembly  (IEA,ISO)

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9377118   PMID:9745929   PMID:10591208   PMID:10713052   PMID:12127976   PMID:12477932   PMID:12522102   PMID:15489334   PMID:15863501   PMID:17868035   PMID:17980167   PMID:18801741  
PMID:19371233   PMID:19541351   PMID:19805624   PMID:19851296   PMID:20056178   PMID:20198315   PMID:20393563   PMID:20492356   PMID:20654644   PMID:20930276   PMID:21701769   PMID:21848517  
PMID:21988832   PMID:23624557   PMID:23685814   PMID:23776197   PMID:23793742   PMID:24508801   PMID:24692702   PMID:25230085   PMID:25286228   PMID:25964585   PMID:26637123   PMID:27146384  
PMID:28947740   PMID:33961781   PMID:34082797   PMID:35914814  


Genomics

Comparative Map Data
PLA2G3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382231,134,807 - 31,140,508 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2231,134,807 - 31,140,508 (-)EnsemblGRCh38hg38GRCh38
GRCh372231,530,793 - 31,536,494 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362229,860,793 - 29,866,469 (-)NCBINCBI36Build 36hg18NCBI36
Build 342229,855,346 - 29,861,023NCBI
Celera2215,330,868 - 15,336,544 (-)NCBICelera
Cytogenetic Map22q12.2NCBI
HuRef2214,492,451 - 14,498,127 (-)NCBIHuRef
CHM1_12231,490,658 - 31,496,334 (-)NCBICHM1_1
T2T-CHM13v2.02231,598,311 - 31,604,012 (-)NCBIT2T-CHM13v2.0
Pla2g3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39113,438,158 - 3,449,346 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl113,438,284 - 3,449,350 (+)EnsemblGRCm39 Ensembl
GRCm38113,488,158 - 3,499,346 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl113,488,284 - 3,499,350 (+)EnsemblGRCm38mm10GRCm38
MGSCv37113,388,230 - 3,394,169 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36113,388,302 - 3,399,353 (+)NCBIMGSCv36mm8
Celera113,979,003 - 3,985,078 (+)NCBICelera
Cytogenetic Map11A1NCBI
cM Map112.45NCBI
Pla2g3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81482,589,908 - 82,597,542 (+)NCBIGRCr8
mRatBN7.21478,367,625 - 78,373,913 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1478,368,105 - 78,373,913 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1482,809,429 - 82,815,114 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01484,049,536 - 84,055,220 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01480,495,298 - 80,500,983 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01483,724,828 - 83,730,614 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1483,724,933 - 83,730,614 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01484,412,999 - 84,418,680 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41484,119,872 - 84,125,552 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11484,130,645 - 84,143,800 (+)NCBI
Celera1477,281,569 - 77,287,249 (+)NCBICelera
Cytogenetic Map14q21NCBI
Pla2g3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554555,315,450 - 5,320,053 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554555,314,520 - 5,320,151 (-)NCBIChiLan1.0ChiLan1.0
PLA2G3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22341,090,380 - 41,100,730 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12243,788,928 - 43,799,272 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02212,158,589 - 12,164,441 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12229,995,364 - 30,001,160 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2229,995,364 - 30,001,160 (-)Ensemblpanpan1.1panPan2
PLA2G3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12624,127,074 - 24,132,508 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2624,128,005 - 24,132,508 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2623,994,204 - 24,002,589 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02624,506,855 - 24,515,226 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2624,510,739 - 24,515,226 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12624,210,260 - 24,218,645 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02624,472,253 - 24,480,619 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02624,533,532 - 24,541,902 (-)NCBIUU_Cfam_GSD_1.0
Pla2g3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118117,049,648 - 117,058,557 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936755306,313 - 312,683 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936755307,166 - 312,683 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PLA2G3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1447,923,954 - 47,928,810 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11447,923,005 - 47,928,762 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21451,034,721 - 51,040,254 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PLA2G3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11914,025,373 - 14,033,214 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1914,025,742 - 14,030,643 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666045112,087,770 - 112,093,291 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pla2g3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247477,603,277 - 7,607,753 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247477,602,848 - 7,607,872 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PLA2G3
38 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 copy number gain See cases [RCV000050768] Chr22:18178957..31821193 [GRCh38]
Chr22:18661724..32217179 [GRCh37]
Chr22:17041724..30547179 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3 copy number gain See cases [RCV000050553] Chr22:26979579..33992220 [GRCh38]
Chr22:27375542..34388209 [GRCh37]
Chr22:25705542..32718209 [NCBI36]
Chr22:22q12.1-12.3		 pathogenic
GRCh38/hg38 22q12.1-12.2(chr22:28278805-31742328)x1 copy number loss See cases [RCV000052870] Chr22:28278805..31742328 [GRCh38]
Chr22:28674793..32138314 [GRCh37]
Chr22:27004793..30468314 [NCBI36]
Chr22:22q12.1-12.2		 pathogenic
NM_015715.4(PLA2G3):c.882C>T (p.Ser294=) single nucleotide variant Malignant melanoma [RCV000072943] Chr22:31137894 [GRCh38]
Chr22:31533880 [GRCh37]
Chr22:29863880 [NCBI36]
Chr22:22q12.2		 not provided
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 22q11.23-12.3(chr22:23279231-36247369)x3 copy number gain See cases [RCV000138172] Chr22:23279231..36247369 [GRCh38]
Chr22:23621418..36643415 [GRCh37]
Chr22:21951418..34973361 [NCBI36]
Chr22:22q11.23-12.3		 pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 copy number gain See cases [RCV000137926] Chr22:20907226..37187347 [GRCh38]
Chr22:21261514..37583387 [GRCh37]
Chr22:19591514..35913333 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1 copy number loss See cases [RCV000143415] Chr22:26451042..31451926 [GRCh38]
Chr22:26847008..31847912 [GRCh37]
Chr22:25177008..30177912 [NCBI36]
Chr22:22q12.1-12.2		 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 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 22q12.1-12.3(chr22:28349854-33013062)x3 copy number gain See cases [RCV000510523] Chr22:28349854..33013062 [GRCh37]
Chr22:22q12.1-12.3		 likely pathogenic
GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3 copy number gain See cases [RCV000511098] Chr22:23637907..36614412 [GRCh37]
Chr22:22q11.23-12.3		 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
NM_015715.5(PLA2G3):c.917A>G (p.Gln306Arg) single nucleotide variant not specified [RCV004321132] Chr22:31137859 [GRCh38]
Chr22:31533845 [GRCh37]
Chr22:22q12.2		 uncertain significance
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
GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3 copy number gain not provided [RCV000684530] Chr22:22460754..35198232 [GRCh37]
Chr22:22q11.22-12.3		 pathogenic
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 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
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
inv(22)(q12.2q12.2) inversion Anaplastic ependymoma [RCV000785873] Chr22:29684716..31740655 [GRCh37]
Chr22:22q12.2		 likely pathogenic
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
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
NC_000022.10:g.(?_29083885)_(34046674_?)dup duplication not provided [RCV001979643] Chr22:29083885..34046674 [GRCh37]
Chr22:22q12.1-12.3		 uncertain significance
NM_015715.5(PLA2G3):c.1094G>A (p.Arg365His) single nucleotide variant not specified [RCV004212051] Chr22:31137013 [GRCh38]
Chr22:31532999 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.754G>A (p.Ala252Thr) single nucleotide variant not specified [RCV004138179] Chr22:31138304 [GRCh38]
Chr22:31534290 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.827G>C (p.Arg276Thr) single nucleotide variant not specified [RCV004192263] Chr22:31137949 [GRCh38]
Chr22:31533935 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.1097G>A (p.Arg366His) single nucleotide variant not specified [RCV004238836] Chr22:31137010 [GRCh38]
Chr22:31532996 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.1289C>T (p.Pro430Leu) single nucleotide variant not specified [RCV004220551] Chr22:31136710 [GRCh38]
Chr22:31532696 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.538T>G (p.Cys180Gly) single nucleotide variant not specified [RCV004212400] Chr22:31138776 [GRCh38]
Chr22:31534762 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.1132C>T (p.Arg378Trp) single nucleotide variant not specified [RCV004194692] Chr22:31136975 [GRCh38]
Chr22:31532961 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.932G>T (p.Gly311Val) single nucleotide variant not specified [RCV004166571] Chr22:31137844 [GRCh38]
Chr22:31533830 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.389A>G (p.Lys130Arg) single nucleotide variant not specified [RCV004214637] Chr22:31139966 [GRCh38]
Chr22:31535952 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.888C>G (p.Ser296Arg) single nucleotide variant not specified [RCV004134972] Chr22:31137888 [GRCh38]
Chr22:31533874 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.856C>T (p.Arg286Trp) single nucleotide variant not specified [RCV004220314] Chr22:31137920 [GRCh38]
Chr22:31533906 [GRCh37]
Chr22:22q12.2		 likely benign
NM_015715.5(PLA2G3):c.544C>T (p.Arg182Trp) single nucleotide variant not specified [RCV004219841] Chr22:31138770 [GRCh38]
Chr22:31534756 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.1234G>A (p.Glu412Lys) single nucleotide variant not specified [RCV004201538] Chr22:31136765 [GRCh38]
Chr22:31532751 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.1073G>A (p.Arg358His) single nucleotide variant not specified [RCV004202152] Chr22:31137034 [GRCh38]
Chr22:31533020 [GRCh37]
Chr22:22q12.2		 likely benign
NM_015715.5(PLA2G3):c.73C>T (p.Arg25Cys) single nucleotide variant not specified [RCV004122879] Chr22:31140282 [GRCh38]
Chr22:31536268 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.959G>A (p.Arg320His) single nucleotide variant not specified [RCV004100141] Chr22:31137817 [GRCh38]
Chr22:31533803 [GRCh37]
Chr22:22q12.2		 likely benign
NM_015715.5(PLA2G3):c.1114G>A (p.Glu372Lys) single nucleotide variant not specified [RCV004102216] Chr22:31136993 [GRCh38]
Chr22:31532979 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.565C>A (p.Gln189Lys) single nucleotide variant not specified [RCV004174668] Chr22:31138749 [GRCh38]
Chr22:31534735 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.997A>G (p.Met333Val) single nucleotide variant not specified [RCV004218262] Chr22:31137779 [GRCh38]
Chr22:31533765 [GRCh37]
Chr22:22q12.2		 likely benign
NM_015715.5(PLA2G3):c.307G>A (p.Glu103Lys) single nucleotide variant not specified [RCV004089590] Chr22:31140048 [GRCh38]
Chr22:31536034 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.1163C>T (p.Ala388Val) single nucleotide variant not specified [RCV004314751] Chr22:31136944 [GRCh38]
Chr22:31532930 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.1410T>A (p.Asp470Glu) single nucleotide variant not specified [RCV004259178] Chr22:31135843 [GRCh38]
Chr22:31531829 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.1174C>T (p.Leu392Phe) single nucleotide variant not specified [RCV004251511] Chr22:31136933 [GRCh38]
Chr22:31532919 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.1122G>C (p.Gln374His) single nucleotide variant not specified [RCV004266855] Chr22:31136985 [GRCh38]
Chr22:31532971 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.985C>T (p.Leu329Phe) single nucleotide variant not specified [RCV004269783] Chr22:31137791 [GRCh38]
Chr22:31533777 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.883C>T (p.Arg295Trp) single nucleotide variant not specified [RCV004248019] Chr22:31137893 [GRCh38]
Chr22:31533879 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.1097G>T (p.Arg366Leu) single nucleotide variant not specified [RCV004356552] Chr22:31137010 [GRCh38]
Chr22:31532996 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.150G>T (p.Lys50Asn) single nucleotide variant not specified [RCV004363069] Chr22:31140205 [GRCh38]
Chr22:31536191 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.311T>C (p.Leu104Pro) single nucleotide variant not specified [RCV004511455] Chr22:31140044 [GRCh38]
Chr22:31536030 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.428G>T (p.Gly143Val) single nucleotide variant not specified [RCV004511457] Chr22:31139927 [GRCh38]
Chr22:31535913 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.173T>C (p.Ile58Thr) single nucleotide variant not specified [RCV004511454] Chr22:31140182 [GRCh38]
Chr22:31536168 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.791T>G (p.Met264Arg) single nucleotide variant not specified [RCV004511458] Chr22:31137985 [GRCh38]
Chr22:31533971 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.1208G>T (p.Arg403Leu) single nucleotide variant not specified [RCV004511453] Chr22:31136791 [GRCh38]
Chr22:31532777 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.395G>A (p.Arg132Gln) single nucleotide variant not specified [RCV004511456] Chr22:31139960 [GRCh38]
Chr22:31535946 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.908G>A (p.Arg303Gln) single nucleotide variant not specified [RCV004511459] Chr22:31137868 [GRCh38]
Chr22:31533854 [GRCh37]
Chr22:22q12.2		 likely benign
NM_015715.5(PLA2G3):c.785G>A (p.Cys262Tyr) single nucleotide variant not specified [RCV004661966] Chr22:31137991 [GRCh38]
Chr22:31533977 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.1319G>A (p.Cys440Tyr) single nucleotide variant not specified [RCV004648550] Chr22:31135934 [GRCh38]
Chr22:31531920 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.785G>T (p.Cys262Phe) single nucleotide variant not specified [RCV004648551] Chr22:31137991 [GRCh38]
Chr22:31533977 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_015715.5(PLA2G3):c.1376A>G (p.Gln459Arg) single nucleotide variant not specified [RCV004648549] Chr22:31135877 [GRCh38]
Chr22:31531863 [GRCh37]
Chr22:22q12.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:495
Count of miRNA genes:398
Interacting mature miRNAs:425
Transcripts:ENST00000215885
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1581529BP71_HBlood pressure QTL 71 (human)20.001Blood pressurepulse pressure221109496637094966Human
2289428BW313_HBody weight QTL 313 (human)2.090.0015Body weightBMI221134428437344284Human
407034468GWAS683444_Hthyroid stimulating hormone measurement QTL GWAS683444 (human)5e-16thyroid stimulating hormone measurementblood thyroid stimulating hormone level (CMO:0001247)223114014731140148Human
406925494GWAS574470_Hvitamin D measurement QTL GWAS574470 (human)7e-12vitamin D measurement223113988631139887Human
407064811GWAS713787_Hvitamin D measurement QTL GWAS713787 (human)1e-12vitamin D measurement223113988631139887Human
407063326GWAS712302_Hvitamin D measurement QTL GWAS712302 (human)8e-12vitamin D measurement223113988631139887Human

Markers in Region
RH70642  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372231,530,431 - 31,530,654UniSTSGRCh37
GRCh372231,530,431 - 31,531,232UniSTSGRCh37
Build 362229,860,431 - 29,860,654RGDNCBI36
Celera2215,330,506 - 15,331,307UniSTS
Celera2215,330,506 - 15,330,729RGD
Cytogenetic Map22q12.2UniSTS
HuRef2214,492,089 - 14,492,312UniSTS
HuRef2214,492,089 - 14,492,890UniSTS
A009F03  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372231,530,488 - 31,530,676UniSTSGRCh37
Build 362229,860,488 - 29,860,676RGDNCBI36
Celera2215,330,563 - 15,330,751RGD
Cytogenetic Map22q12.2UniSTS
HuRef2214,492,146 - 14,492,334UniSTS
GeneMap99-GB4 RH Map2287.46UniSTS
STS-R40003  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372231,530,470 - 31,530,657UniSTSGRCh37
Build 362229,860,470 - 29,860,657RGDNCBI36
Celera2215,330,545 - 15,330,732RGD
Cytogenetic Map22q12.2UniSTS
HuRef2214,492,128 - 14,492,315UniSTS
GeneMap99-GB4 RH Map2288.01UniSTS
G32496  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372231,530,488 - 31,530,676UniSTSGRCh37
Celera2215,330,563 - 15,330,751UniSTS
Cytogenetic Map22q12.2UniSTS
HuRef2214,492,146 - 14,492,334UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
698 1892 2081 1649 4372 1227 1847 2 289 683 128 1912 4072 3798 30 3197 624 1446 1478 162

Sequence


Ensembl Acc Id: ENST00000215885   ⟹   ENSP00000215885
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2231,134,807 - 31,140,508 (-)Ensembl
RefSeq Acc Id: NM_015715   ⟹   NP_056530
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382231,134,807 - 31,140,508 (-)NCBI
GRCh372231,530,793 - 31,536,469 (-)ENTREZGENE
Build 362229,860,793 - 29,866,469 (-)NCBI Archive
HuRef2214,492,451 - 14,498,127 (-)ENTREZGENE
CHM1_12231,490,658 - 31,496,458 (-)NCBI
T2T-CHM13v2.02231,598,311 - 31,604,012 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530204   ⟹   XP_011528506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382231,134,807 - 31,140,508 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530205   ⟹   XP_011528507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382231,134,807 - 31,140,508 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054325662   ⟹   XP_054181637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02231,598,311 - 31,604,012 (-)NCBI
RefSeq Acc Id: XM_054325663   ⟹   XP_054181638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02231,598,311 - 31,604,012 (-)NCBI
RefSeq Acc Id: NP_056530   ⟸   NM_015715
- Peptide Label: precursor
- UniProtKB: O95768 (UniProtKB/Swiss-Prot),   Q9NZ20 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011528507   ⟸   XM_011530205
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011528506   ⟸   XM_011530204
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000215885   ⟸   ENST00000215885
RefSeq Acc Id: XP_054181638   ⟸   XM_054325663
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054181637   ⟸   XM_054325662
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NZ20-F1-model_v2 AlphaFold Q9NZ20 1-509 view protein structure

Promoters
RGD ID:6800231
Promoter ID:HG_KWN:42383
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:ENST00000215885
Position:
Human AssemblyChrPosition (strand)Source
Build 362229,866,266 - 29,866,766 (-)MPROMDB
RGD ID:13603750
Promoter ID:EPDNEW_H28059
Type:initiation region
Name:PLA2G3_1
Description:phospholipase A2 group III
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
GRCh382231,140,508 - 31,140,568EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17934 AgrOrtholog
COSMIC PLA2G3 COSMIC
Ensembl Genes ENSG00000100078 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000215885 ENTREZGENE
  ENST00000215885.4 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.90.10 UniProtKB/Swiss-Prot
GTEx ENSG00000100078 GTEx
HGNC ID HGNC:17934 ENTREZGENE
Human Proteome Map PLA2G3 Human Proteome Map
InterPro PLipase_A2_dom UniProtKB/Swiss-Prot
  PLipase_A2_dom_sf UniProtKB/Swiss-Prot
  PLipase_A2_His_AS UniProtKB/Swiss-Prot
KEGG Report hsa:50487 UniProtKB/Swiss-Prot
NCBI Gene 50487 ENTREZGENE
OMIM 611651 OMIM
PANTHER GROUP 3 SECRETORY PHOSPHOLIPASE A2 UniProtKB/Swiss-Prot
  RH14732P UniProtKB/Swiss-Prot
Pfam Phospholip_A2_2 UniProtKB/Swiss-Prot
PharmGKB PA38267 PharmGKB
PROSITE PA2_HIS UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48619 UniProtKB/Swiss-Prot
UniProt O95768 ENTREZGENE
  PA2G3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary O95768 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PLA2G3  phospholipase A2 group III  PLA2G3  phospholipase A2, group III  Symbol and/or name change 5135510 APPROVED