PLCD4 (phospholipase C delta 4) - Rat Genome Database

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Gene: PLCD4 (phospholipase C delta 4) Homo sapiens
Analyze
Symbol: PLCD4
Name: phospholipase C delta 4
RGD ID: 1346447
HGNC Page HGNC:9062
Description: Enables G-protein alpha-subunit binding activity and guanyl-nucleotide exchange factor activity. Involved in small GTPase-mediated signal transduction. Located in cytosol; endoplasmic reticulum; and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4; 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase delta-4; hPLCD4; MGC12837; phosphoinositide phospholipase C-delta-4; phospholipase C, delta 4; phospholipase C-delta-4; PLC delta4; PLC-delta-4
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
GRCh382218,607,899 - 218,637,175 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2218,607,855 - 218,637,184 (+)EnsemblGRCh38hg38GRCh38
GRCh372219,472,622 - 219,501,898 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,180,876 - 219,210,148 (+)NCBINCBI36Build 36hg18NCBI36
Build 342219,298,136 - 219,327,409NCBI
Celera2213,240,381 - 213,269,662 (+)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2211,325,808 - 211,355,366 (+)NCBIHuRef
CHM1_12219,479,454 - 219,508,883 (+)NCBICHM1_1
T2T-CHM13v2.02219,094,436 - 219,123,729 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
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
Additional References at PubMed
PMID:1979339   PMID:7589147   PMID:8125298   PMID:8381210   PMID:9278385   PMID:9730685   PMID:10501179   PMID:10702683   PMID:10843712   PMID:11706040   PMID:12477932   PMID:12482669  
PMID:14702039   PMID:15037625   PMID:15140260   PMID:15342556   PMID:16189514   PMID:17394098   PMID:19086053   PMID:19913121   PMID:20056178   PMID:20628086   PMID:21832049   PMID:21873635  
PMID:21951552   PMID:25429064   PMID:27634302   PMID:28463110   PMID:29859928   PMID:30194280   PMID:30450849   PMID:32296183   PMID:33961781   PMID:34857952  


Genomics

Comparative Map Data
PLCD4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382218,607,899 - 218,637,175 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2218,607,855 - 218,637,184 (+)EnsemblGRCh38hg38GRCh38
GRCh372219,472,622 - 219,501,898 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,180,876 - 219,210,148 (+)NCBINCBI36Build 36hg18NCBI36
Build 342219,298,136 - 219,327,409NCBI
Celera2213,240,381 - 213,269,662 (+)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2211,325,808 - 211,355,366 (+)NCBIHuRef
CHM1_12219,479,454 - 219,508,883 (+)NCBICHM1_1
T2T-CHM13v2.02219,094,436 - 219,123,729 (+)NCBIT2T-CHM13v2.0
Plcd4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39174,581,175 - 74,605,137 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl174,582,047 - 74,606,953 (+)EnsemblGRCm39 Ensembl
GRCm38174,541,975 - 74,565,977 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl174,542,888 - 74,567,794 (+)EnsemblGRCm38mm10GRCm38
MGSCv37174,589,463 - 74,612,551 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36174,477,739 - 74,499,184 (+)NCBIMGSCv36mm8
Celera175,100,417 - 75,123,669 (+)NCBICelera
Cytogenetic Map1C4NCBI
cM Map138.54NCBI
Plcd4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8983,564,616 - 83,613,742 (+)NCBIGRCr8
mRatBN7.2976,115,523 - 76,158,602 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl976,117,168 - 76,142,453 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx984,562,298 - 84,587,522 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0989,691,247 - 89,716,473 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0988,077,430 - 88,102,653 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0981,816,395 - 81,844,364 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl981,816,872 - 81,844,364 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0981,579,905 - 81,608,512 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4973,878,506 - 73,905,127 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1974,025,487 - 74,052,109 (+)NCBI
Celera973,690,442 - 73,715,587 (+)NCBICelera
Cytogenetic Map9q33NCBI
Plcd4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545314,787,677 - 14,806,485 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545314,775,119 - 14,812,872 (-)NCBIChiLan1.0ChiLan1.0
PLCD4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213121,228,648 - 121,267,960 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B121,243,168 - 121,282,926 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B105,864,706 - 105,895,114 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B224,461,261 - 224,490,345 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B224,461,261 - 224,490,345 (+)Ensemblpanpan1.1panPan2
PLCD4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13725,221,329 - 25,244,492 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3725,226,244 - 25,244,914 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3726,041,363 - 26,064,404 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03725,237,345 - 25,260,497 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3725,237,771 - 25,260,768 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13725,142,268 - 25,165,298 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03725,076,485 - 25,099,551 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03725,096,641 - 25,120,171 (+)NCBIUU_Cfam_GSD_1.0
Plcd4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303174,714,969 - 174,756,001 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365691,058,611 - 1,099,577 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365691,058,092 - 1,097,662 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PLCD4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15120,626,938 - 120,688,112 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115120,660,549 - 120,695,731 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215133,641,398 - 133,676,142 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PLCD4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110104,512,156 - 104,540,555 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl10104,512,678 - 104,542,531 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604094,863,854 - 94,893,228 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Plcd4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248236,418,922 - 6,442,418 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248236,418,359 - 6,446,848 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PLCD4
39 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|See cases [RCV000052964] Chr2:212614422..227121230 [GRCh38]
Chr2:213479146..227985946 [GRCh37]
Chr2:213187391..227694190 [NCBI36]
Chr2:2q34-36.3		 pathogenic
NM_001105537.2(ZNF142):c.4419C>T (p.Ile1473=) single nucleotide variant Malignant melanoma [RCV000060495] Chr2:218642097 [GRCh38]
Chr2:219506820 [GRCh37]
Chr2:219215064 [NCBI36]
Chr2:2q35		 not provided
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3		 pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1 copy number loss not provided [RCV000585275] Chr2:217374144..227643620 [GRCh37]
Chr2:2q35-36.3		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q35(chr2:219275536-220266647)x3 copy number gain See cases [RCV000511655] Chr2:219275536..220266647 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_032726.4(PLCD4):c.2156C>T (p.Thr719Ile) single nucleotide variant Inborn genetic diseases [RCV003272799] Chr2:218636366 [GRCh38]
Chr2:219501089 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1 copy number loss not provided [RCV000682163] Chr2:218813434..227450699 [GRCh37]
Chr2:2q35-36.3		 pathogenic
NC_000002.11:g.(?_219135239)_(220290732_?)del deletion Desmin-related myofibrillar myopathy [RCV000707774] Chr2:219135239..220290732 [GRCh37]
Chr2:2q35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
GRCh37/hg19 2q35(chr2:218271898-219825640) copy number gain not provided [RCV000767784] Chr2:218271898..219825640 [GRCh37]
Chr2:2q35		 likely pathogenic
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3		 pathogenic
NM_032726.4(PLCD4):c.871G>T (p.Asp291Tyr) single nucleotide variant Inborn genetic diseases [RCV003253204] Chr2:218628127 [GRCh38]
Chr2:219492850 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35(chr2:216883237-220953003)x3 copy number gain not provided [RCV001007510] Chr2:216883237..220953003 [GRCh37]
Chr2:2q35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1 copy number loss not provided [RCV001259180] Chr2:215122019..220397907 [GRCh37]
Chr2:2q34-35		 likely pathogenic
GRCh37/hg19 2q34-36.1(chr2:215108009-221679980) copy number gain not specified [RCV002053282] Chr2:215108009..221679980 [GRCh37]
Chr2:2q34-36.1		 pathogenic
GRCh37/hg19 2q35(chr2:218210665-220141650) copy number gain not specified [RCV002053284] Chr2:218210665..220141650 [GRCh37]
Chr2:2q35		 uncertain significance
NC_000002.11:g.(?_218999525)_(220435954_?)dup duplication Alacrima, achalasia, and intellectual disability syndrome [RCV001955103]|Paroxysmal nonkinesigenic dyskinesia [RCV001962531] Chr2:218999525..220435954 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.298T>G (p.Ser100Ala) single nucleotide variant Inborn genetic diseases [RCV003277977] Chr2:218618695 [GRCh38]
Chr2:219483418 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.1561T>C (p.Ser521Pro) single nucleotide variant Inborn genetic diseases [RCV002993139] Chr2:218633716 [GRCh38]
Chr2:219498439 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.613C>T (p.Arg205Cys) single nucleotide variant Inborn genetic diseases [RCV002992374] Chr2:218622719 [GRCh38]
Chr2:219487442 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.1988G>A (p.Arg663His) single nucleotide variant Inborn genetic diseases [RCV002882637] Chr2:218635887 [GRCh38]
Chr2:219500610 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.986G>A (p.Arg329Gln) single nucleotide variant Inborn genetic diseases [RCV002972788] Chr2:218629530 [GRCh38]
Chr2:219494253 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.1190G>A (p.Arg397His) single nucleotide variant Inborn genetic diseases [RCV002991286] Chr2:218630720 [GRCh38]
Chr2:219495443 [GRCh37]
Chr2:2q35		 likely benign
NM_032726.4(PLCD4):c.1250C>T (p.Pro417Leu) single nucleotide variant Inborn genetic diseases [RCV002840466] Chr2:218630780 [GRCh38]
Chr2:219495503 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.406G>C (p.Asp136His) single nucleotide variant Inborn genetic diseases [RCV002905318] Chr2:218618803 [GRCh38]
Chr2:219483526 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.1193A>T (p.His398Leu) single nucleotide variant Inborn genetic diseases [RCV002682642] Chr2:218630723 [GRCh38]
Chr2:219495446 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.362T>C (p.Leu121Pro) single nucleotide variant Inborn genetic diseases [RCV002879720] Chr2:218618759 [GRCh38]
Chr2:219483482 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.1645C>T (p.Arg549Cys) single nucleotide variant Inborn genetic diseases [RCV002925579] Chr2:218634143 [GRCh38]
Chr2:219498866 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.292C>T (p.Arg98Cys) single nucleotide variant Inborn genetic diseases [RCV002981389] Chr2:218618689 [GRCh38]
Chr2:219483412 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.214G>T (p.Gly72Cys) single nucleotide variant Inborn genetic diseases [RCV002869433] Chr2:218618611 [GRCh38]
Chr2:219483334 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.2189G>A (p.Arg730His) single nucleotide variant Inborn genetic diseases [RCV002641728] Chr2:218636477 [GRCh38]
Chr2:219501200 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.1792G>A (p.Gly598Ser) single nucleotide variant Inborn genetic diseases [RCV002697118] Chr2:218634526 [GRCh38]
Chr2:219499249 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.1186G>T (p.Ala396Ser) single nucleotide variant Inborn genetic diseases [RCV002931410] Chr2:218630716 [GRCh38]
Chr2:219495439 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.386T>C (p.Met129Thr) single nucleotide variant Inborn genetic diseases [RCV002641770] Chr2:218618783 [GRCh38]
Chr2:219483506 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.401G>A (p.Arg134His) single nucleotide variant Inborn genetic diseases [RCV003003709] Chr2:218618798 [GRCh38]
Chr2:219483521 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.2029A>G (p.Asn677Asp) single nucleotide variant Inborn genetic diseases [RCV002955079] Chr2:218635928 [GRCh38]
Chr2:219500651 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.1722G>A (p.Met574Ile) single nucleotide variant Inborn genetic diseases [RCV002652247] Chr2:218634220 [GRCh38]
Chr2:219498943 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.2119G>A (p.Asp707Asn) single nucleotide variant Inborn genetic diseases [RCV002936598] Chr2:218636329 [GRCh38]
Chr2:219501052 [GRCh37]
Chr2:2q35		 likely benign
NM_032726.4(PLCD4):c.1925T>C (p.Val642Ala) single nucleotide variant Inborn genetic diseases [RCV002648453] Chr2:218635824 [GRCh38]
Chr2:219500547 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.1231A>G (p.Thr411Ala) single nucleotide variant Inborn genetic diseases [RCV002719799] Chr2:218630761 [GRCh38]
Chr2:219495484 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.1646G>A (p.Arg549His) single nucleotide variant Inborn genetic diseases [RCV002679796] Chr2:218634144 [GRCh38]
Chr2:219498867 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.631C>A (p.Leu211Met) single nucleotide variant Inborn genetic diseases [RCV002724741] Chr2:218622737 [GRCh38]
Chr2:219487460 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.85T>C (p.Ser29Pro) single nucleotide variant Inborn genetic diseases [RCV003204919] Chr2:218615966 [GRCh38]
Chr2:219480689 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.1129T>C (p.Tyr377His) single nucleotide variant Inborn genetic diseases [RCV003177873] Chr2:218630659 [GRCh38]
Chr2:219495382 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.718T>C (p.Cys240Arg) single nucleotide variant Inborn genetic diseases [RCV003216115] Chr2:218622824 [GRCh38]
Chr2:219487547 [GRCh37]
Chr2:2q35		 likely benign
NM_032726.4(PLCD4):c.482G>A (p.Arg161Gln) single nucleotide variant Inborn genetic diseases [RCV003173548] Chr2:218621541 [GRCh38]
Chr2:219486264 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.377T>C (p.Val126Ala) single nucleotide variant Inborn genetic diseases [RCV003306996] Chr2:218618774 [GRCh38]
Chr2:219483497 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
NM_032726.4(PLCD4):c.2132G>A (p.Arg711Gln) single nucleotide variant Inborn genetic diseases [RCV003370265] Chr2:218636342 [GRCh38]
Chr2:219501065 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.2174T>C (p.Met725Thr) single nucleotide variant Inborn genetic diseases [RCV003375887] Chr2:218636384 [GRCh38]
Chr2:219501107 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 copy number gain not provided [RCV003484087] Chr2:218376403..242783384 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_032726.4(PLCD4):c.410+6G>A single nucleotide variant not provided [RCV003429535] Chr2:218618813 [GRCh38]
Chr2:219483536 [GRCh37]
Chr2:2q35		 likely benign
NM_032726.4(PLCD4):c.1323A>G (p.Glu441=) single nucleotide variant not provided [RCV003440161] Chr2:218632186 [GRCh38]
Chr2:219496909 [GRCh37]
Chr2:2q35		 likely benign
NM_032726.4(PLCD4):c.2007G>A (p.Gln669=) single nucleotide variant not provided [RCV003440162] Chr2:218635906 [GRCh38]
Chr2:219500629 [GRCh37]
Chr2:2q35		 likely benign
NM_032726.4(PLCD4):c.129C>T (p.Asp43=) single nucleotide variant not provided [RCV003429534] Chr2:218616010 [GRCh38]
Chr2:219480733 [GRCh37]
Chr2:2q35		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3188
Count of miRNA genes:914
Interacting mature miRNAs:1121
Transcripts:ENST00000415854, ENST00000417849, ENST00000432688, ENST00000444453, ENST00000446503, ENST00000450993, ENST00000457773, ENST00000458239, ENST00000459791, ENST00000465713, ENST00000469493, ENST00000473443, ENST00000483685, ENST00000484718, ENST00000497482
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.

Markers in Region
PLCD4_1057  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372219,501,428 - 219,502,212UniSTSGRCh37
Build 362219,209,672 - 219,210,456RGDNCBI36
Celera2213,269,186 - 213,269,970RGD
HuRef2211,354,885 - 211,355,669UniSTS
SHGC-33785  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372219,498,062 - 219,498,188UniSTSGRCh37
Build 362219,206,306 - 219,206,432RGDNCBI36
Celera2213,265,820 - 213,265,946RGD
Cytogenetic Map2q35UniSTS
HuRef2211,351,519 - 211,351,645UniSTS
GeneMap99-GB4 RH Map2681.9UniSTS
Whitehead-RH Map21007.0UniSTS
GeneMap99-G3 RH Map29429.0UniSTS
RH70482  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372219,498,062 - 219,498,304UniSTSGRCh37
Build 362219,206,306 - 219,206,548RGDNCBI36
Celera2213,265,820 - 213,266,062RGD
Cytogenetic Map2q35UniSTS
HuRef2211,351,519 - 211,351,761UniSTS
GeneMap99-GB4 RH Map2680.95UniSTS


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
High
Medium 1383 41 319 9 40 3 1065 1472 530 63 402 74 7 1 10 1052
Low 1010 2485 1294 510 1445 356 3284 643 3147 340 1024 1505 166 1194 1736 2
Below cutoff 34 459 111 101 454 103 5 80 47 13 25 32 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_032726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_241325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC012510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI914254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY512961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP361394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB877206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB895840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC934615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC953249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000415854   ⟹   ENSP00000391850
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,609,242 - 218,618,693 (+)Ensembl
RefSeq Acc Id: ENST00000417849   ⟹   ENSP00000396942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,607,919 - 218,637,181 (+)Ensembl
RefSeq Acc Id: ENST00000432688   ⟹   ENSP00000396185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,609,740 - 218,637,175 (+)Ensembl
RefSeq Acc Id: ENST00000444453   ⟹   ENSP00000415725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,607,899 - 218,621,548 (+)Ensembl
RefSeq Acc Id: ENST00000446503   ⟹   ENSP00000406040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,607,899 - 218,622,186 (+)Ensembl
RefSeq Acc Id: ENST00000450993   ⟹   ENSP00000388631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,607,899 - 218,637,175 (+)Ensembl
RefSeq Acc Id: ENST00000457773   ⟹   ENSP00000404481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,635,855 - 218,637,173 (+)Ensembl
RefSeq Acc Id: ENST00000458239   ⟹   ENSP00000403935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,630,646 - 218,634,554 (+)Ensembl
RefSeq Acc Id: ENST00000459791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,622,362 - 218,637,184 (+)Ensembl
RefSeq Acc Id: ENST00000465713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,607,919 - 218,633,880 (+)Ensembl
RefSeq Acc Id: ENST00000469493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,607,899 - 218,629,215 (+)Ensembl
RefSeq Acc Id: ENST00000473443
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,607,916 - 218,637,173 (+)Ensembl
RefSeq Acc Id: ENST00000483685
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,607,855 - 218,636,648 (+)Ensembl
RefSeq Acc Id: ENST00000484718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,633,639 - 218,636,388 (+)Ensembl
RefSeq Acc Id: ENST00000497482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,629,354 - 218,633,672 (+)Ensembl
RefSeq Acc Id: NM_032726   ⟹   NP_116115
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,607,899 - 218,637,175 (+)NCBI
GRCh372219,472,488 - 219,501,909 (+)ENTREZGENE
Build 362219,180,876 - 219,210,148 (+)NCBI Archive
HuRef2211,325,808 - 211,355,366 (+)ENTREZGENE
CHM1_12219,479,454 - 219,508,883 (+)NCBI
T2T-CHM13v2.02219,094,436 - 219,123,718 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005246913   ⟹   XP_005246970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,607,899 - 218,637,175 (+)NCBI
GRCh372219,472,488 - 219,501,909 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011512012   ⟹   XP_011510314
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,607,899 - 218,637,175 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024453182   ⟹   XP_024308950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,607,899 - 218,637,175 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047446072   ⟹   XP_047302028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,607,899 - 218,637,175 (+)NCBI
RefSeq Acc Id: XM_047446074   ⟹   XP_047302030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,609,191 - 218,637,175 (+)NCBI
RefSeq Acc Id: XM_047446075   ⟹   XP_047302031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,607,899 - 218,637,175 (+)NCBI
RefSeq Acc Id: XM_047446076   ⟹   XP_047302032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,607,899 - 218,637,175 (+)NCBI
RefSeq Acc Id: XM_047446077   ⟹   XP_047302033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,607,899 - 218,637,175 (+)NCBI
RefSeq Acc Id: XM_047446078   ⟹   XP_047302034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,607,899 - 218,634,191 (+)NCBI
RefSeq Acc Id: XM_054344231   ⟹   XP_054200206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,094,436 - 219,123,729 (+)NCBI
RefSeq Acc Id: XM_054344232   ⟹   XP_054200207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,095,728 - 219,123,729 (+)NCBI
RefSeq Acc Id: XM_054344233   ⟹   XP_054200208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,094,436 - 219,123,729 (+)NCBI
RefSeq Acc Id: XM_054344234   ⟹   XP_054200209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,094,436 - 219,123,718 (+)NCBI
RefSeq Acc Id: XM_054344235   ⟹   XP_054200210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,094,436 - 219,123,729 (+)NCBI
RefSeq Acc Id: XM_054344236   ⟹   XP_054200211
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,094,436 - 219,123,729 (+)NCBI
RefSeq Acc Id: XM_054344237   ⟹   XP_054200212
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,094,436 - 219,123,729 (+)NCBI
RefSeq Acc Id: XM_054344238   ⟹   XP_054200213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,094,436 - 219,123,729 (+)NCBI
RefSeq Acc Id: XM_054344239   ⟹   XP_054200214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,094,436 - 219,120,734 (+)NCBI
Protein Sequences
Protein RefSeqs NP_116115 (Get FASTA)   NCBI Sequence Viewer  
  XP_005246970 (Get FASTA)   NCBI Sequence Viewer  
  XP_011510314 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308950 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302028 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302030 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302031 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302032 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302033 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302034 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200206 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200207 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200208 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200209 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200210 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200211 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200212 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200213 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200214 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH06355 (Get FASTA)   NCBI Sequence Viewer  
  AAS82574 (Get FASTA)   NCBI Sequence Viewer  
  BAD92836 (Get FASTA)   NCBI Sequence Viewer  
  BAD96923 (Get FASTA)   NCBI Sequence Viewer  
  BAG60146 (Get FASTA)   NCBI Sequence Viewer  
  BAH13040 (Get FASTA)   NCBI Sequence Viewer  
  CBF62952 (Get FASTA)   NCBI Sequence Viewer  
  CBF74703 (Get FASTA)   NCBI Sequence Viewer  
  CBU87828 (Get FASTA)   NCBI Sequence Viewer  
  CBU96775 (Get FASTA)   NCBI Sequence Viewer  
  EAW70627 (Get FASTA)   NCBI Sequence Viewer  
  EAW70628 (Get FASTA)   NCBI Sequence Viewer  
  EAW70629 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000388631
  ENSP00000388631.2
  ENSP00000391850.1
  ENSP00000396185
  ENSP00000396185.1
  ENSP00000396942.1
  ENSP00000403935.1
  ENSP00000404481.1
  ENSP00000406040.1
  ENSP00000415725.1
GenBank Protein Q9BRC7 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_116115   ⟸   NM_032726
- UniProtKB: Q53FS8 (UniProtKB/Swiss-Prot),   Q9BRC7 (UniProtKB/Swiss-Prot),   B7Z5V4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005246970   ⟸   XM_005246913
- Peptide Label: isoform X6
- UniProtKB: B7Z5V4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011510314   ⟸   XM_011512012
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024308950   ⟸   XM_024453182
- Peptide Label: isoform X5
- UniProtKB: C9JEA7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000388631   ⟸   ENST00000450993
RefSeq Acc Id: ENSP00000391850   ⟸   ENST00000415854
RefSeq Acc Id: ENSP00000396942   ⟸   ENST00000417849
RefSeq Acc Id: ENSP00000404481   ⟸   ENST00000457773
RefSeq Acc Id: ENSP00000415725   ⟸   ENST00000444453
RefSeq Acc Id: ENSP00000403935   ⟸   ENST00000458239
RefSeq Acc Id: ENSP00000406040   ⟸   ENST00000446503
RefSeq Acc Id: ENSP00000396185   ⟸   ENST00000432688
RefSeq Acc Id: XP_047302028   ⟸   XM_047446072
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047302031   ⟸   XM_047446075
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047302032   ⟸   XM_047446076
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047302033   ⟸   XM_047446077
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047302034   ⟸   XM_047446078
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047302030   ⟸   XM_047446074
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054200206   ⟸   XM_054344231
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054200208   ⟸   XM_054344233
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054200210   ⟸   XM_054344235
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054200212   ⟸   XM_054344237
- Peptide Label: isoform X5
- UniProtKB: C9JEA7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200213   ⟸   XM_054344238
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054200211   ⟸   XM_054344236
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054200209   ⟸   XM_054344234
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054200214   ⟸   XM_054344239
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054200207   ⟸   XM_054344232
- Peptide Label: isoform X1
Protein Domains
C2   EF-hand   PH   Phosphatidylinositol-specific phospholipase C X   PI-PLC X-box   PI-PLC Y-box

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BRC7-F1-model_v2 AlphaFold Q9BRC7 1-762 view protein structure

Promoters
RGD ID:6862826
Promoter ID:EPDNEW_H4578
Type:initiation region
Name:PLCD4_1
Description:phospholipase C delta 4
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
GRCh382218,607,899 - 218,607,959EPDNEW
RGD ID:6797948
Promoter ID:HG_KWN:37259
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000336888
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,203,511 - 219,204,011 (+)MPROMDB
RGD ID:6797950
Promoter ID:HG_KWN:37260
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000336889
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,205,721 - 219,207,102 (+)MPROMDB
RGD ID:6797949
Promoter ID:HG_KWN:37261
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000336890
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,208,721 - 219,209,221 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9062 AgrOrtholog
COSMIC PLCD4 COSMIC
Ensembl Genes ENSG00000115556 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000415854.5 UniProtKB/TrEMBL
  ENST00000417849.5 UniProtKB/Swiss-Prot
  ENST00000432688 ENTREZGENE
  ENST00000432688.5 UniProtKB/TrEMBL
  ENST00000444453.5 UniProtKB/TrEMBL
  ENST00000446503.5 UniProtKB/TrEMBL
  ENST00000450993 ENTREZGENE
  ENST00000450993.7 UniProtKB/Swiss-Prot
  ENST00000457773.1 UniProtKB/TrEMBL
  ENST00000458239.1 UniProtKB/TrEMBL
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.20.20.190 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000115556 GTEx
HGNC ID HGNC:9062 ENTREZGENE
Human Proteome Map PLCD4 Human Proteome Map
InterPro C2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI-PLC_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLC-like_Pdiesterase_TIM-brl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLC_EF-hand-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLipase_C_PInositol-sp_X_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLipase_C_Pinositol-sp_Y UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84812 UniProtKB/Swiss-Prot
NCBI Gene 84812 ENTREZGENE
OMIM 605939 OMIM
PANTHER PTHR10336 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10336:SF31 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EF-hand_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand_like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00168 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00169 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI-PLC-X UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI-PLC-Y UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33390 PharmGKB
PRINTS PHPHLIPASEC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE EF_HAND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PIPLC_X_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PIPLC_Y_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50004 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EFh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLCXc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLCYc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00239 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49562 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51695 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B7Z5V4 ENTREZGENE, UniProtKB/TrEMBL
  C9JAE4_HUMAN UniProtKB/TrEMBL
  C9JEA7 ENTREZGENE, UniProtKB/TrEMBL
  F2Z3H8_HUMAN UniProtKB/TrEMBL
  H7C237_HUMAN UniProtKB/TrEMBL
  H7C281_HUMAN UniProtKB/TrEMBL
  PLCD4_HUMAN UniProtKB/Swiss-Prot
  Q53FS8 ENTREZGENE
  Q9BRC7 ENTREZGENE
UniProt Secondary Q53FS8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PLCD4  phospholipase C delta 4    phospholipase C, delta 4  Symbol and/or name change 5135510 APPROVED