PLA2G4D (phospholipase A2 group IVD) - Rat Genome Database

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Gene: PLA2G4D (phospholipase A2 group IVD) Homo sapiens
Analyze
Symbol: PLA2G4D
Name: phospholipase A2 group IVD
RGD ID: 1352050
HGNC Page HGNC:30038
Description: Enables calcium-dependent phospholipase A2 activity. Involved in glycerophospholipid catabolic process. Predicted to be located in cytoplasm and membrane. Predicted to be active in cytosol.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: cPLA2-delta; cPLA2delta; cytosolic phospholipase A2 delta; phospholipase A2 delta, cytosolic; phospholipase A2, group IVD (cytosolic)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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
GRCh381542,067,009 - 42,094,562 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1542,067,009 - 42,094,562 (-)EnsemblGRCh38hg38GRCh38
GRCh371542,359,207 - 42,386,760 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361540,147,173 - 40,174,044 (-)NCBINCBI36Build 36hg18NCBI36
Build 341540,146,498 - 40,151,368NCBI
Celera1519,127,581 - 19,154,452 (-)NCBICelera
Cytogenetic Map15q15.1NCBI
HuRef1519,207,893 - 19,235,242 (-)NCBIHuRef
CHM1_11542,478,319 - 42,505,190 (-)NCBICHM1_1
T2T-CHM13v2.01539,873,000 - 39,900,554 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IEA)
cytosol  (IBA,IEA,TAS)
membrane  (IEA)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:9377118   PMID:9745929   PMID:14709560   PMID:15489334   PMID:16213696   PMID:18686860   PMID:19913121   PMID:20628086   PMID:21832049   PMID:21873635   PMID:24349473   PMID:27670592  
PMID:28440406   PMID:33961781  


Genomics

Comparative Map Data
PLA2G4D
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381542,067,009 - 42,094,562 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1542,067,009 - 42,094,562 (-)EnsemblGRCh38hg38GRCh38
GRCh371542,359,207 - 42,386,760 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361540,147,173 - 40,174,044 (-)NCBINCBI36Build 36hg18NCBI36
Build 341540,146,498 - 40,151,368NCBI
Celera1519,127,581 - 19,154,452 (-)NCBICelera
Cytogenetic Map15q15.1NCBI
HuRef1519,207,893 - 19,235,242 (-)NCBIHuRef
CHM1_11542,478,319 - 42,505,190 (-)NCBICHM1_1
T2T-CHM13v2.01539,873,000 - 39,900,554 (-)NCBIT2T-CHM13v2.0
Pla2g4d
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392120,096,347 - 120,119,678 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2120,096,076 - 120,119,678 (-)EnsemblGRCm39 Ensembl
GRCm382120,265,866 - 120,289,069 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2120,265,595 - 120,289,197 (-)EnsemblGRCm38mm10GRCm38
MGSCv372120,091,605 - 120,114,805 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362119,957,310 - 119,980,510 (-)NCBIMGSCv36mm8
Celera2121,420,286 - 121,443,397 (-)NCBICelera
Cytogenetic Map2E5NCBI
cM Map260.31NCBI
Pla2g4d
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83127,674,743 - 127,695,991 (-)NCBIGRCr8
mRatBN7.23107,220,973 - 107,242,224 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3107,220,978 - 107,242,224 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.03112,040,827 - 112,061,847 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3112,041,533 - 112,061,796 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03118,589,300 - 118,609,563 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43106,758,373 - 106,778,915 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera3106,129,471 - 106,150,773 (-)NCBICelera
Cytogenetic Map3q35NCBI
Pla2g4d
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554168,841,954 - 8,860,353 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554168,841,645 - 8,860,381 (-)NCBIChiLan1.0ChiLan1.0
PLA2G4D
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21631,311,381 - 31,331,038 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11535,462,638 - 35,482,296 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01521,021,875 - 21,048,848 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11539,182,100 - 39,208,996 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1539,182,100 - 39,208,996 (-)Ensemblpanpan1.1panPan2
PLA2G4D
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1309,091,147 - 9,115,090 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl309,092,001 - 9,115,363 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha309,147,400 - 9,173,232 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0309,224,119 - 9,249,959 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl309,226,331 - 9,250,007 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1309,144,510 - 9,170,332 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0309,248,779 - 9,274,621 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0309,383,819 - 9,409,657 (-)NCBIUU_Cfam_GSD_1.0
Pla2g4d
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864087,537,755 - 87,561,169 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364715,386,762 - 5,409,174 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364715,386,762 - 5,409,165 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PLA2G4D
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1129,247,159 - 129,271,028 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11129,251,495 - 129,270,952 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21144,183,508 - 144,207,704 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PLA2G4D
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12640,895,718 - 40,923,092 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2640,897,660 - 40,922,031 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048100,080,579 - 100,105,910 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pla2g4d
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248049,238,057 - 9,256,503 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PLA2G4D
54 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q15.1(chr15:41865122-42329484)x3 copy number gain See cases [RCV000051140] Chr15:41865122..42329484 [GRCh38]
Chr15:42157320..42621682 [GRCh37]
Chr15:39944612..40408974 [NCBI36]
Chr15:15q15.1		 uncertain significance
NM_178034.3(PLA2G4D):c.1229G>A (p.Arg410Gln) single nucleotide variant Malignant melanoma [RCV000070768] Chr15:42079625 [GRCh38]
Chr15:42371823 [GRCh37]
Chr15:40159115 [NCBI36]
Chr15:15q15.1		 not provided
NM_178034.3(PLA2G4D):c.912C>T (p.Ala304=) single nucleotide variant Malignant melanoma [RCV000070769] Chr15:42081524 [GRCh38]
Chr15:42373722 [GRCh37]
Chr15:40161014 [NCBI36]
Chr15:15q15.1		 not provided
NM_178034.3(PLA2G4D):c.1554C>T (p.Pro518=) single nucleotide variant Malignant melanoma [RCV000062860] Chr15:42071793 [GRCh38]
Chr15:42363991 [GRCh37]
Chr15:40151283 [NCBI36]
Chr15:15q15.1		 not provided
GRCh38/hg38 15q15.1(chr15:41697762-42489559)x3 copy number gain See cases [RCV000140056] Chr15:41697762..42489559 [GRCh38]
Chr15:41989960..42781757 [GRCh37]
Chr15:39777252..40569049 [NCBI36]
Chr15:15q15.1		 uncertain significance
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1 copy number loss See cases [RCV000448968] Chr15:41689327..52446981 [GRCh37]
Chr15:15q15.1-21.2		 pathogenic
NM_178034.4(PLA2G4D):c.387+14T>G single nucleotide variant not specified [RCV000454817] Chr15:42086199 [GRCh38]
Chr15:42378397 [GRCh37]
Chr15:15q15.1		 benign
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
NM_178034.4(PLA2G4D):c.1177G>T (p.Ala393Ser) single nucleotide variant Inborn genetic diseases [RCV003286844] Chr15:42079677 [GRCh38]
Chr15:42371875 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.1802G>T (p.Arg601Leu) single nucleotide variant Inborn genetic diseases [RCV003288059] Chr15:42071197 [GRCh38]
Chr15:42363395 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.317A>T (p.Lys106Met) single nucleotide variant Inborn genetic diseases [RCV003286258] Chr15:42086283 [GRCh38]
Chr15:42378481 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.2393A>T (p.Gln798Leu) single nucleotide variant Inborn genetic diseases [RCV003275802] Chr15:42068779 [GRCh38]
Chr15:42360977 [GRCh37]
Chr15:15q15.1		 uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
GRCh37/hg19 15q15.1(chr15:42079854-42426833)x3 copy number gain not provided [RCV000683684] Chr15:42079854..42426833 [GRCh37]
Chr15:15q15.1		 uncertain significance
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
NM_178034.4(PLA2G4D):c.943C>T (p.Leu315=) single nucleotide variant not provided [RCV000947620] Chr15:42081493 [GRCh38]
Chr15:42373691 [GRCh37]
Chr15:15q15.1		 benign
NM_178034.4(PLA2G4D):c.997C>T (p.Arg333Trp) single nucleotide variant not provided [RCV000973521] Chr15:42081094 [GRCh38]
Chr15:42373292 [GRCh37]
Chr15:15q15.1		 benign
NM_178034.4(PLA2G4D):c.587C>T (p.Thr196Ile) single nucleotide variant Inborn genetic diseases [RCV003294706] Chr15:42083283 [GRCh38]
Chr15:42375481 [GRCh37]
Chr15:15q15.1		 uncertain significance
GRCh37/hg19 15q15.1(chr15:41869275-42484890)x3 copy number gain not provided [RCV001259207] Chr15:41869275..42484890 [GRCh37]
Chr15:15q15.1		 likely benign
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1		 uncertain significance
NM_178034.4(PLA2G4D):c.621C>G (p.Phe207Leu) single nucleotide variant Inborn genetic diseases [RCV003275803] Chr15:42083249 [GRCh38]
Chr15:42375447 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.2240G>A (p.Arg747His) single nucleotide variant Inborn genetic diseases [RCV002749655] Chr15:42068932 [GRCh38]
Chr15:42361130 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.1801C>T (p.Arg601Cys) single nucleotide variant Inborn genetic diseases [RCV002772115] Chr15:42071198 [GRCh38]
Chr15:42363396 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.167G>A (p.Gly56Glu) single nucleotide variant Inborn genetic diseases [RCV002992723] Chr15:42087388 [GRCh38]
Chr15:42379586 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.2087C>T (p.Pro696Leu) single nucleotide variant Inborn genetic diseases [RCV002989814] Chr15:42070052 [GRCh38]
Chr15:42362250 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.1982G>A (p.Arg661Gln) single nucleotide variant Inborn genetic diseases [RCV002841672] Chr15:42070778 [GRCh38]
Chr15:42362976 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.712G>T (p.Gly238Trp) single nucleotide variant Inborn genetic diseases [RCV002773504] Chr15:42082350 [GRCh38]
Chr15:42374548 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.459C>A (p.Asn153Lys) single nucleotide variant Inborn genetic diseases [RCV002837023] Chr15:42085108 [GRCh38]
Chr15:42377306 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.2174C>T (p.Pro725Leu) single nucleotide variant Inborn genetic diseases [RCV002682328] Chr15:42069965 [GRCh38]
Chr15:42362163 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.746T>C (p.Ile249Thr) single nucleotide variant Inborn genetic diseases [RCV002762849] Chr15:42082316 [GRCh38]
Chr15:42374514 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.1975A>G (p.Met659Val) single nucleotide variant Inborn genetic diseases [RCV002951662] Chr15:42070785 [GRCh38]
Chr15:42362983 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.1499A>G (p.Glu500Gly) single nucleotide variant Inborn genetic diseases [RCV002660687] Chr15:42071848 [GRCh38]
Chr15:42364046 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.919C>A (p.Gln307Lys) single nucleotide variant Inborn genetic diseases [RCV002951984] Chr15:42081517 [GRCh38]
Chr15:42373715 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.2108G>A (p.Ser703Asn) single nucleotide variant Inborn genetic diseases [RCV002707077] Chr15:42070031 [GRCh38]
Chr15:42362229 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.2140C>T (p.His714Tyr) single nucleotide variant Inborn genetic diseases [RCV002822690] Chr15:42069999 [GRCh38]
Chr15:42362197 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.445A>G (p.Asn149Asp) single nucleotide variant Inborn genetic diseases [RCV002910556] Chr15:42085122 [GRCh38]
Chr15:42377320 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.1712C>T (p.Ser571Phe) single nucleotide variant Inborn genetic diseases [RCV002784993] Chr15:42071287 [GRCh38]
Chr15:42363485 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.758T>C (p.Val253Ala) single nucleotide variant Inborn genetic diseases [RCV002853690] Chr15:42082304 [GRCh38]
Chr15:42374502 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.6G>C (p.Glu2Asp) single nucleotide variant Inborn genetic diseases [RCV002645515] Chr15:42094454 [GRCh38]
Chr15:42386652 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.2072G>A (p.Arg691Gln) single nucleotide variant Inborn genetic diseases [RCV002698389] Chr15:42070067 [GRCh38]
Chr15:42362265 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.346C>T (p.Pro116Ser) single nucleotide variant Inborn genetic diseases [RCV002697343] Chr15:42086254 [GRCh38]
Chr15:42378452 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.1507G>A (p.Gly503Ser) single nucleotide variant Inborn genetic diseases [RCV003006560] Chr15:42071840 [GRCh38]
Chr15:42364038 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.2101G>C (p.Glu701Gln) single nucleotide variant Inborn genetic diseases [RCV002765303] Chr15:42070038 [GRCh38]
Chr15:42362236 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.47G>C (p.Gly16Ala) single nucleotide variant Inborn genetic diseases [RCV002813801] Chr15:42087699 [GRCh38]
Chr15:42379897 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.2114A>G (p.Gln705Arg) single nucleotide variant Inborn genetic diseases [RCV002920893] Chr15:42070025 [GRCh38]
Chr15:42362223 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.1942G>A (p.Ala648Thr) single nucleotide variant Inborn genetic diseases [RCV002936675] Chr15:42070818 [GRCh38]
Chr15:42363016 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.1297G>A (p.Glu433Lys) single nucleotide variant Inborn genetic diseases [RCV002960684] Chr15:42079557 [GRCh38]
Chr15:42371755 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.1476G>T (p.Lys492Asn) single nucleotide variant Inborn genetic diseases [RCV002896296] Chr15:42071871 [GRCh38]
Chr15:42364069 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.665G>A (p.Arg222His) single nucleotide variant Inborn genetic diseases [RCV002935258] Chr15:42083205 [GRCh38]
Chr15:42375403 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.845T>C (p.Leu282Pro) single nucleotide variant Inborn genetic diseases [RCV002944955] Chr15:42081591 [GRCh38]
Chr15:42373789 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.1286C>T (p.Ala429Val) single nucleotide variant Inborn genetic diseases [RCV003210561] Chr15:42079568 [GRCh38]
Chr15:42371766 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.1262C>T (p.Pro421Leu) single nucleotide variant Inborn genetic diseases [RCV003205696] Chr15:42079592 [GRCh38]
Chr15:42371790 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.2347C>G (p.Arg783Gly) single nucleotide variant Inborn genetic diseases [RCV003263215] Chr15:42068825 [GRCh38]
Chr15:42361023 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.934G>T (p.Asp312Tyr) single nucleotide variant Inborn genetic diseases [RCV003374320] Chr15:42081502 [GRCh38]
Chr15:42373700 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.332T>G (p.Ile111Ser) single nucleotide variant Inborn genetic diseases [RCV003363946] Chr15:42086268 [GRCh38]
Chr15:42378466 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.817G>A (p.Gly273Ser) single nucleotide variant Inborn genetic diseases [RCV003352243] Chr15:42081801 [GRCh38]
Chr15:42373999 [GRCh37]
Chr15:15q15.1		 likely benign
Single allele deletion not provided [RCV003448697] Chr15:41321409..51718601 [GRCh37]
Chr15:15q15.1-21.2		 pathogenic
NM_178034.4(PLA2G4D):c.561G>C (p.Leu187=) single nucleotide variant not provided [RCV003400900] Chr15:42083309 [GRCh38]
Chr15:42375507 [GRCh37]
Chr15:15q15.1		 likely benign
NM_178034.4(PLA2G4D):c.2157C>T (p.Pro719=) single nucleotide variant not provided [RCV003411175] Chr15:42069982 [GRCh38]
Chr15:42362180 [GRCh37]
Chr15:15q15.1		 likely benign
NM_178034.4(PLA2G4D):c.1023C>T (p.His341=) single nucleotide variant not provided [RCV003400899] Chr15:42081068 [GRCh38]
Chr15:42373266 [GRCh37]
Chr15:15q15.1		 likely benign
GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3 copy number gain not specified [RCV003987108] Chr15:22770421..50347130 [GRCh37]
Chr15:15q11.2-21.2		 pathogenic
NM_178034.4(PLA2G4D):c.1166G>A (p.Arg389Gln) single nucleotide variant Inborn genetic diseases [RCV003342941] Chr15:42079688 [GRCh38]
Chr15:42371886 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.1584C>G (p.Ser528Arg) single nucleotide variant Inborn genetic diseases [RCV003211200] Chr15:42071541 [GRCh38]
Chr15:42363739 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_178034.4(PLA2G4D):c.1470C>A (p.Phe490Leu) single nucleotide variant Inborn genetic diseases [RCV003341395] Chr15:42071877 [GRCh38]
Chr15:42364075 [GRCh37]
Chr15:15q15.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:818
Count of miRNA genes:607
Interacting mature miRNAs:676
Transcripts:ENST00000290472, ENST00000560132, ENST00000560932
Prediction methods: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.

Markers in Region
D15S518  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371542,372,614 - 42,372,725UniSTSGRCh37
Build 361540,159,906 - 40,160,017RGDNCBI36
Celera1519,140,314 - 19,140,425RGD
Cytogenetic Map15q15.1UniSTS
HuRef1519,221,102 - 19,221,213UniSTS
D15S773  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371542,364,334 - 42,364,540UniSTSGRCh37
Build 361540,151,626 - 40,151,832RGDNCBI36
Celera1519,132,034 - 19,132,240RGD
Cytogenetic Map15q15.1UniSTS
HuRef1519,212,346 - 19,212,552UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 1 4 5 2 1265 3 2 118 2 5 1 675
Low 95 1 340 37 9 6 45 9 413 33 242 124 39 5 24
Below cutoff 1621 1394 834 261 699 140 1762 1300 2748 171 854 1095 127 690 1218 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000290472   ⟹   ENSP00000290472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1542,067,009 - 42,094,562 (-)Ensembl
RefSeq Acc Id: ENST00000560132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1542,081,117 - 42,084,038 (-)Ensembl
RefSeq Acc Id: ENST00000560932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1542,067,009 - 42,071,878 (-)Ensembl
RefSeq Acc Id: NM_178034   ⟹   NP_828848
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381542,067,009 - 42,094,562 (-)NCBI
GRCh371542,359,881 - 42,386,752 (-)RGD
Build 361540,147,173 - 40,174,044 (-)NCBI Archive
Celera1519,127,581 - 19,154,452 (-)RGD
HuRef1519,207,893 - 19,235,242 (-)ENTREZGENE
CHM1_11542,478,319 - 42,505,190 (-)NCBI
T2T-CHM13v2.01539,873,000 - 39,900,554 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047432399   ⟹   XP_047288355
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381542,069,306 - 42,094,562 (-)NCBI
RefSeq Acc Id: XM_054377742   ⟹   XP_054233717
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01539,875,301 - 39,900,554 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_828848   ⟸   NM_178034
- UniProtKB: Q8N176 (UniProtKB/Swiss-Prot),   Q86XP0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000290472   ⟸   ENST00000290472
RefSeq Acc Id: XP_047288355   ⟸   XM_047432399
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054233717   ⟸   XM_054377742
- Peptide Label: isoform X1
Protein Domains
C2   PLA2c

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86XP0-F1-model_v2 AlphaFold Q86XP0 1-818 view protein structure

Promoters
RGD ID:7229207
Promoter ID:EPDNEW_H20349
Type:initiation region
Name:PLA2G4D_2
Description:phospholipase A2 group IVD
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20350  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381542,071,804 - 42,071,864EPDNEW
RGD ID:7229209
Promoter ID:EPDNEW_H20350
Type:single initiation site
Name:PLA2G4D_1
Description:phospholipase A2 group IVD
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20349  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381542,094,562 - 42,094,622EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30038 AgrOrtholog
COSMIC PLA2G4D COSMIC
Ensembl Genes ENSG00000159337 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000290472 ENTREZGENE
  ENST00000290472.4 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.150 UniProtKB/Swiss-Prot
  Cytosolic phospholipase A2 catalytic domain UniProtKB/Swiss-Prot
GTEx ENSG00000159337 GTEx
HGNC ID HGNC:30038 ENTREZGENE
Human Proteome Map PLA2G4D Human Proteome Map
InterPro Acyl_Trfase/lysoPLipase UniProtKB/Swiss-Prot
  C2_cPLA2 UniProtKB/Swiss-Prot
  C2_dom UniProtKB/Swiss-Prot
  C2_domain_sf UniProtKB/Swiss-Prot
  cPLA2_C2 UniProtKB/Swiss-Prot
  LysoPLipase_cat_dom UniProtKB/Swiss-Prot
KEGG Report hsa:283748 UniProtKB/Swiss-Prot
NCBI Gene 283748 ENTREZGENE
OMIM 612864 OMIM
PANTHER CYTOSOLIC PHOSPHOLIPASE A2 UniProtKB/Swiss-Prot
  CYTOSOLIC PHOSPHOLIPASE A2 DELTA UniProtKB/Swiss-Prot
Pfam cPLA2_C2 UniProtKB/Swiss-Prot
  PF00168 UniProtKB/Swiss-Prot
  PLA2_B UniProtKB/Swiss-Prot
PharmGKB PA134974074 PharmGKB
PROSITE PLA2C UniProtKB/Swiss-Prot
  PS50004 UniProtKB/Swiss-Prot
SMART PLAc UniProtKB/Swiss-Prot
  SM00239 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49562 UniProtKB/Swiss-Prot
  SSF52151 UniProtKB/Swiss-Prot
UniProt PA24D_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8N176 ENTREZGENE
UniProt Secondary Q8N176 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PLA2G4D  phospholipase A2 group IVD    phospholipase A2, group IVD (cytosolic)  Symbol and/or name change 5135510 APPROVED