PLCB2 (phospholipase C beta 2) - Rat Genome Database

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Gene: PLCB2 (phospholipase C beta 2) Homo sapiens
Analyze
Symbol: PLCB2
Name: phospholipase C beta 2
RGD ID: 732409
HGNC Page HGNC:9055
Description: Enables phosphatidylinositol phospholipase C activity. Involved in phosphatidylinositol metabolic process. Predicted to be located in cytosol. Predicted to be part of G-protein beta/gamma-subunit complex. Predicted to be active in neuronal dense core vesicle.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2; 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta-2; FLJ38135; phosphoinositide phospholipase C-beta-2; phospholipase C, beta 2; phospholipase C-beta-2; PLC-beta-2
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
GRCh381540,284,256 - 40,307,935 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1540,278,176 - 40,307,935 (-)EnsemblGRCh38hg38GRCh38
GRCh371540,580,110 - 40,600,136 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361538,367,390 - 38,387,466 (-)NCBINCBI36Build 36hg18NCBI36
Build 341538,367,401 - 38,387,330NCBI
Celera1517,346,090 - 17,366,157 (-)NCBICelera
Cytogenetic Map15q15.1NCBI
HuRef1517,423,058 - 17,443,532 (-)NCBIHuRef
CHM1_11540,700,041 - 40,720,115 (-)NCBICHM1_1
T2T-CHM13v2.01538,091,173 - 38,114,815 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Stimulation of phospholipase Cbeta by membrane interactions, interdomain movement, and G protein binding--how many ways can you activate an enzyme? Drin G and Scarlata S, Cell Signal. 2007 Jul;19(7):1383-92. Epub 2007 Apr 29.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
4. Roles of PLC-beta2 and -beta3 and PI3Kgamma in chemoattractant-mediated signal transduction. Li Z, etal., Science 2000 Feb 11;287(5455):1046-9.
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. Regulation of phosphoinositide-specific phospholipase C. Rhee SG Annu Rev Biochem. 2001;70:281-312.
10. Coding of sweet, bitter, and umami tastes: different receptor cells sharing similar signaling pathways. Zhang Y, etal., Cell 2003 Feb 7;112(3):293-301.
Additional References at PubMed
PMID:1322796   PMID:1644792   PMID:1979339   PMID:2841328   PMID:7589147   PMID:7649993   PMID:8519600   PMID:9188725   PMID:9278385   PMID:9723859   PMID:9730685   PMID:9925923  
PMID:10501179   PMID:10748023   PMID:10843712   PMID:10980202   PMID:11118617   PMID:11753430   PMID:11941371   PMID:12033943   PMID:12050180   PMID:12054652   PMID:12388553   PMID:12477932  
PMID:12482669   PMID:12657629   PMID:12761218   PMID:14702039   PMID:14968112   PMID:15274049   PMID:15509571   PMID:15611108   PMID:15623527   PMID:15641770   PMID:15939402   PMID:16344560  
PMID:16525635   PMID:17429106   PMID:17478077   PMID:17497434   PMID:18632858   PMID:18832656   PMID:19089657   PMID:19525236   PMID:19913121   PMID:20007712   PMID:20056178   PMID:20336759  
PMID:20530480   PMID:20628086   PMID:20660057   PMID:20677014   PMID:20842205   PMID:21115837   PMID:21873635   PMID:21926974   PMID:21940795   PMID:22728827   PMID:22905097   PMID:23006664  
PMID:23625927   PMID:23690479   PMID:24330829   PMID:24903829   PMID:25056061   PMID:26468229   PMID:26785288   PMID:27465150   PMID:28870198   PMID:30021884   PMID:30582225   PMID:31586073  
PMID:31746389   PMID:32513696   PMID:34857952   PMID:35861069  


Genomics

Comparative Map Data
PLCB2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381540,284,256 - 40,307,935 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1540,278,176 - 40,307,935 (-)EnsemblGRCh38hg38GRCh38
GRCh371540,580,110 - 40,600,136 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361538,367,390 - 38,387,466 (-)NCBINCBI36Build 36hg18NCBI36
Build 341538,367,401 - 38,387,330NCBI
Celera1517,346,090 - 17,366,157 (-)NCBICelera
Cytogenetic Map15q15.1NCBI
HuRef1517,423,058 - 17,443,532 (-)NCBIHuRef
CHM1_11540,700,041 - 40,720,115 (-)NCBICHM1_1
T2T-CHM13v2.01538,091,173 - 38,114,815 (-)NCBIT2T-CHM13v2.0
Plcb2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392118,535,484 - 118,559,140 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2118,537,998 - 118,558,919 (-)EnsemblGRCm39 Ensembl
GRCm382118,705,003 - 118,728,661 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2118,707,517 - 118,728,438 (-)EnsemblGRCm38mm10GRCm38
MGSCv372118,533,253 - 118,554,174 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362118,398,958 - 118,419,879 (-)NCBIMGSCv36mm8
Celera2119,861,823 - 119,882,734 (-)NCBICelera
Cytogenetic Map2E5NCBI
cM Map259.43NCBI
Plcb2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83126,134,925 - 126,158,303 (-)NCBIGRCr8
mRatBN7.23105,683,676 - 105,704,384 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3105,684,815 - 105,704,302 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3109,357,684 - 109,377,152 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03117,953,248 - 117,972,712 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03115,613,610 - 115,633,075 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03110,497,760 - 110,517,563 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3110,498,114 - 110,517,163 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03117,038,677 - 117,058,132 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43105,203,524 - 105,223,342 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13105,099,951 - 105,119,770 (-)NCBI
Celera3104,599,222 - 104,618,601 (-)NCBICelera
Cytogenetic Map3q35NCBI
Plcb2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554167,218,417 - 7,240,739 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554167,221,326 - 7,240,743 (-)NCBIChiLan1.0ChiLan1.0
PLCB2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21629,518,245 - 29,541,893 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11533,669,673 - 33,693,337 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01519,218,329 - 19,241,977 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11537,476,699 - 37,496,813 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1537,476,699 - 37,496,813 (-)Ensemblpanpan1.1panPan2
PLCB2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1307,472,208 - 7,493,106 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl307,472,413 - 7,492,801 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha307,526,161 - 7,547,075 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0307,598,044 - 7,618,970 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl307,594,683 - 7,619,120 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1307,522,589 - 7,543,490 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0307,628,543 - 7,649,438 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0307,757,123 - 7,778,226 (-)NCBIUU_Cfam_GSD_1.0
Plcb2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864085,908,907 - 85,928,377 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364713,756,970 - 3,776,392 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364713,756,978 - 3,776,452 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PLCB2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1131,005,408 - 131,028,689 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11131,005,408 - 131,031,864 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21146,286,447 - 146,302,118 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PLCB2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12642,706,462 - 42,727,516 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2642,707,625 - 42,727,145 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604898,236,858 - 98,257,092 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Plcb2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248047,591,844 - 7,612,645 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248047,593,956 - 7,612,860 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PLCB2
58 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q14-15.1(chr15:36531993-40787538)x3 copy number gain See cases [RCV000052341] Chr15:36531993..40787538 [GRCh38]
Chr15:36824194..41079736 [GRCh37]
Chr15:34611486..38867028 [NCBI36]
Chr15:15q14-15.1		 pathogenic
GRCh38/hg38 15q14-15.1(chr15:39710935-40294591)x3 copy number gain See cases [RCV000052105] Chr15:39710935..40294591 [GRCh38]
Chr15:40003136..40586792 [GRCh37]
Chr15:37790428..38374084 [NCBI36]
Chr15:15q14-15.1		 uncertain significance
NM_004573.2(PLCB2):c.3111G>A (p.Glu1037=) single nucleotide variant Malignant melanoma [RCV000070739] Chr15:40290763 [GRCh38]
Chr15:40582964 [GRCh37]
Chr15:38370256 [NCBI36]
Chr15:15q15.1		 not provided
NM_004573.2(PLCB2):c.2513G>A (p.Gly838Glu) single nucleotide variant Malignant melanoma [RCV000070740] Chr15:40292077 [GRCh38]
Chr15:40584278 [GRCh37]
Chr15:38371570 [NCBI36]
Chr15:15q15.1		 not provided
NM_004573.2(PLCB2):c.1654T>C (p.Tyr552His) single nucleotide variant Malignant melanoma [RCV000070741] Chr15:40296338 [GRCh38]
Chr15:40588539 [GRCh37]
Chr15:38375831 [NCBI36]
Chr15:15q15.1		 not provided
NM_004573.2(PLCB2):c.1288G>A (p.Asp430Asn) single nucleotide variant Malignant melanoma [RCV000070742] Chr15:40297556 [GRCh38]
Chr15:40589757 [GRCh37]
Chr15:38377049 [NCBI36]
Chr15:15q15.1		 not provided
NM_004573.2(PLCB2):c.1041G>A (p.Gln347=) single nucleotide variant Malignant melanoma [RCV000070743] Chr15:40298337 [GRCh38]
Chr15:40590538 [GRCh37]
Chr15:38377830 [NCBI36]
Chr15:15q15.1		 not provided
NM_004573.2(PLCB2):c.154C>T (p.Gln52Ter) single nucleotide variant Malignant melanoma [RCV000070744] Chr15:40304009 [GRCh38]
Chr15:40596210 [GRCh37]
Chr15:38383502 [NCBI36]
Chr15:15q15.1		 not provided
NM_004573.3(PLCB2):c.1154A>G (p.Lys385Arg) single nucleotide variant Oromandibular-limb hypogenesis spectrum [RCV000240155] Chr15:40298224 [GRCh38]
Chr15:40590425 [GRCh37]
Chr15:15q15.1		 likely benign
NM_004573.3(PLCB2):c.2585C>A (p.Thr862Lys) single nucleotide variant Oromandibular-limb hypogenesis spectrum [RCV000240468] Chr15:40291866 [GRCh38]
Chr15:40584067 [GRCh37]
Chr15:15q15.1		 likely benign
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 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_004573.3(PLCB2):c.3304G>A (p.Glu1102Lys) single nucleotide variant Inborn genetic diseases [RCV003251254] Chr15:40289322 [GRCh38]
Chr15:40581523 [GRCh37]
Chr15:15q15.1		 uncertain significance
GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant complex Spindle cell sarcoma [RCV000714282] Chr15:34640169..42054561 [GRCh37]
Chr15:15q14-15.1		 pathogenic
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
GRCh37/hg19 15q14-15.1(chr15:38170429-40775075)x1 copy number loss not provided [RCV000683683] Chr15:38170429..40775075 [GRCh37]
Chr15:15q14-15.1		 pathogenic
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_004573.3(PLCB2):c.2614G>T (p.Gly872Trp) single nucleotide variant Inborn genetic diseases [RCV003244177] Chr15:40291639 [GRCh38]
Chr15:40583840 [GRCh37]
Chr15:15q15.1		 likely benign
NM_004573.3(PLCB2):c.936C>G (p.His312Gln) single nucleotide variant not provided [RCV000948426] Chr15:40298623 [GRCh38]
Chr15:40590824 [GRCh37]
Chr15:15q15.1		 benign
NM_004573.3(PLCB2):c.3113+10C>T single nucleotide variant not provided [RCV000959184] Chr15:40290751 [GRCh38]
Chr15:40582952 [GRCh37]
Chr15:15q15.1		 likely benign
NM_004573.3(PLCB2):c.1412C>T (p.Thr471Ile) single nucleotide variant not provided [RCV000901909] Chr15:40296820 [GRCh38]
Chr15:40589021 [GRCh37]
Chr15:15q15.1		 likely benign
NM_004573.3(PLCB2):c.2516del (p.Gly839fs) deletion not provided [RCV000979342] Chr15:40292074 [GRCh38]
Chr15:40584275 [GRCh37]
Chr15:15q15.1		 benign
NM_004573.3(PLCB2):c.814G>T (p.Asp272Tyr) single nucleotide variant Inborn genetic diseases [RCV003243780] Chr15:40298834 [GRCh38]
Chr15:40591035 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.149C>T (p.Thr50Met) single nucleotide variant Inborn genetic diseases [RCV003270732] Chr15:40304014 [GRCh38]
Chr15:40596215 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.1746T>C (p.Tyr582=) single nucleotide variant not provided [RCV000908931] Chr15:40295236 [GRCh38]
Chr15:40587437 [GRCh37]
Chr15:15q15.1		 benign
NM_004573.3(PLCB2):c.1722G>A (p.Ser574=) single nucleotide variant not provided [RCV000957256] Chr15:40295260 [GRCh38]
Chr15:40587461 [GRCh37]
Chr15:15q15.1		 benign
GRCh37/hg19 15q15.1(chr15:40464942-41196807)x4 copy number gain not provided [RCV001259208] Chr15:40464942..41196807 [GRCh37]
Chr15:15q15.1		 uncertain significance
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_004573.3(PLCB2):c.1928T>C (p.Met643Thr) single nucleotide variant Inborn genetic diseases [RCV003242237] Chr15:40294399 [GRCh38]
Chr15:40586600 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.2060C>T (p.Thr687Met) single nucleotide variant Inborn genetic diseases [RCV003254166] Chr15:40294267 [GRCh38]
Chr15:40586468 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.1101C>G (p.Asp367Glu) single nucleotide variant Inborn genetic diseases [RCV002839810] Chr15:40298277 [GRCh38]
Chr15:40590478 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.257A>C (p.Asn86Thr) single nucleotide variant Inborn genetic diseases [RCV002991291] Chr15:40302584 [GRCh38]
Chr15:40594785 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.1682T>A (p.Phe561Tyr) single nucleotide variant Inborn genetic diseases [RCV002973183] Chr15:40296310 [GRCh38]
Chr15:40588511 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.64C>T (p.Arg22Cys) single nucleotide variant Inborn genetic diseases [RCV002752465] Chr15:40307609 [GRCh38]
Chr15:40599810 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.1306C>A (p.Pro436Thr) single nucleotide variant Inborn genetic diseases [RCV002774290] Chr15:40297538 [GRCh38]
Chr15:40589739 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.2780G>T (p.Gly927Val) single nucleotide variant Inborn genetic diseases [RCV002772399] Chr15:40291355 [GRCh38]
Chr15:40583556 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.590C>T (p.Ala197Val) single nucleotide variant Inborn genetic diseases [RCV002778468] Chr15:40299221 [GRCh38]
Chr15:40591422 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.314C>T (p.Pro105Leu) single nucleotide variant Inborn genetic diseases [RCV002733881] Chr15:40302527 [GRCh38]
Chr15:40594728 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.3161G>A (p.Arg1054Gln) single nucleotide variant Inborn genetic diseases [RCV002925479] Chr15:40290625 [GRCh38]
Chr15:40582826 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.3092C>T (p.Ala1031Val) single nucleotide variant Inborn genetic diseases [RCV002951958] Chr15:40290782 [GRCh38]
Chr15:40582983 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.3400C>G (p.Leu1134Val) single nucleotide variant Inborn genetic diseases [RCV002781881] Chr15:40288873 [GRCh38]
Chr15:40581074 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.1987C>T (p.Arg663Trp) single nucleotide variant Inborn genetic diseases [RCV002704421] Chr15:40294340 [GRCh38]
Chr15:40586541 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.193C>T (p.Arg65Trp) single nucleotide variant Inborn genetic diseases [RCV002799408] Chr15:40303326 [GRCh38]
Chr15:40595527 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.1432G>A (p.Gly478Ser) single nucleotide variant Inborn genetic diseases [RCV002891528] Chr15:40296800 [GRCh38]
Chr15:40589001 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.1277C>T (p.Thr426Met) single nucleotide variant Inborn genetic diseases [RCV002955625] Chr15:40297567 [GRCh38]
Chr15:40589768 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.2488T>A (p.Ser830Thr) single nucleotide variant Inborn genetic diseases [RCV002984181] Chr15:40292102 [GRCh38]
Chr15:40584303 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.497C>T (p.Pro166Leu) single nucleotide variant Inborn genetic diseases [RCV002787823] Chr15:40302145 [GRCh38]
Chr15:40594346 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.244C>T (p.Arg82Trp) single nucleotide variant Inborn genetic diseases [RCV002929313] Chr15:40302597 [GRCh38]
Chr15:40594798 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.817A>G (p.Lys273Glu) single nucleotide variant Inborn genetic diseases [RCV002855026] Chr15:40298831 [GRCh38]
Chr15:40591032 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.3514G>A (p.Asp1172Asn) single nucleotide variant Inborn genetic diseases [RCV002921261] Chr15:40288759 [GRCh38]
Chr15:40580960 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.2803G>C (p.Gly935Arg) single nucleotide variant Inborn genetic diseases [RCV002717469] Chr15:40291332 [GRCh38]
Chr15:40583533 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.410C>T (p.Pro137Leu) single nucleotide variant Inborn genetic diseases [RCV002812753] Chr15:40302312 [GRCh38]
Chr15:40594513 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.3290A>C (p.His1097Pro) single nucleotide variant Inborn genetic diseases [RCV002835782] Chr15:40289336 [GRCh38]
Chr15:40581537 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.1592C>T (p.Ser531Leu) single nucleotide variant Inborn genetic diseases [RCV002724654] Chr15:40296529 [GRCh38]
Chr15:40588730 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.2889G>C (p.Glu963Asp) single nucleotide variant Inborn genetic diseases [RCV002814226] Chr15:40291165 [GRCh38]
Chr15:40583366 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.1507A>G (p.Thr503Ala) single nucleotide variant Inborn genetic diseases [RCV002677272] Chr15:40296614 [GRCh38]
Chr15:40588815 [GRCh37]
Chr15:15q15.1		 likely benign
NM_004573.3(PLCB2):c.2090G>A (p.Arg697His) single nucleotide variant Inborn genetic diseases [RCV003177904] Chr15:40293696 [GRCh38]
Chr15:40585897 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.1046T>C (p.Leu349Pro) single nucleotide variant Inborn genetic diseases [RCV003215653] Chr15:40298332 [GRCh38]
Chr15:40590533 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.2522C>T (p.Pro841Leu) single nucleotide variant Inborn genetic diseases [RCV003199469] Chr15:40292068 [GRCh38]
Chr15:40584269 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.2105A>G (p.Tyr702Cys) single nucleotide variant Inborn genetic diseases [RCV003217780] Chr15:40293681 [GRCh38]
Chr15:40585882 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.17C>T (p.Pro6Leu) single nucleotide variant Inborn genetic diseases [RCV003174045] Chr15:40307656 [GRCh38]
Chr15:40599857 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.3040A>G (p.Ile1014Val) single nucleotide variant Inborn genetic diseases [RCV003194383] Chr15:40290834 [GRCh38]
Chr15:40583035 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.2381C>T (p.Ala794Val) single nucleotide variant Inborn genetic diseases [RCV003342068] Chr15:40292389 [GRCh38]
Chr15:40584590 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.553C>T (p.Leu185Phe) single nucleotide variant Inborn genetic diseases [RCV003352545] Chr15:40301986 [GRCh38]
Chr15:40594187 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.2867A>C (p.Lys956Thr) single nucleotide variant Inborn genetic diseases [RCV003351463] Chr15:40291268 [GRCh38]
Chr15:40583469 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_004573.3(PLCB2):c.1907-5T>G single nucleotide variant Thrombocytopenia [RCV003447734] Chr15:40294425 [GRCh38]
Chr15:40586626 [GRCh37]
Chr15:15q15.1		 uncertain significance
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_004573.3(PLCB2):c.2095G>A (p.Val699Met) single nucleotide variant Inborn genetic diseases [RCV003370558] Chr15:40293691 [GRCh38]
Chr15:40585892 [GRCh37]
Chr15:15q15.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6267
Count of miRNA genes:1110
Interacting mature miRNAs:1437
Transcripts:ENST00000260402, ENST00000456256, ENST00000543785, ENST00000557821, ENST00000558409, ENST00000558505, ENST00000558588, ENST00000559381, ENST00000559618, ENST00000559634, ENST00000559671, ENST00000560009, ENST00000560093, ENST00000560701, ENST00000561378
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
D15S994  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371540,582,081 - 40,582,298UniSTSGRCh37
Build 361538,369,373 - 38,369,590RGDNCBI36
Celera1517,348,073 - 17,348,280RGD
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map15q15UniSTS
HuRef1517,425,041 - 17,425,248UniSTS
Marshfield Genetic Map1540.25RGD
Marshfield Genetic Map1540.25UniSTS
Genethon Genetic Map1540.0UniSTS
Whitehead-YAC Contig Map15 UniSTS
G15920  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371540,580,339 - 40,580,587UniSTSGRCh37
Build 361538,367,631 - 38,367,879RGDNCBI36
Celera1517,346,331 - 17,346,579RGD
Cytogenetic Map15q15UniSTS
HuRef1517,423,299 - 17,423,547UniSTS
SHGC-154601  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371540,599,238 - 40,599,533UniSTSGRCh37
Build 361538,386,530 - 38,386,825RGDNCBI36
Celera1517,365,221 - 17,365,516RGD
Cytogenetic Map15q15UniSTS
HuRef1517,442,596 - 17,442,891UniSTS
TNG Radiation Hybrid Map363479.0UniSTS
PLCB2_382  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371540,580,080 - 40,580,895UniSTSGRCh37
Build 361538,367,372 - 38,368,187RGDNCBI36
Celera1517,346,072 - 17,346,887RGD
HuRef1517,423,040 - 17,423,855UniSTS
SHGC-30151  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371540,580,110 - 40,580,259UniSTSGRCh37
Build 361538,367,402 - 38,367,551RGDNCBI36
Celera1517,346,102 - 17,346,251RGD
Cytogenetic Map15q15UniSTS
HuRef1517,423,070 - 17,423,219UniSTS
Stanford-G3 RH Map151129.0UniSTS
GeneMap99-GB4 RH Map15140.79UniSTS
Whitehead-RH Map1576.3UniSTS
NCBI RH Map1590.1UniSTS
GeneMap99-G3 RH Map151129.0UniSTS
D15S1327  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371540,580,564 - 40,580,851UniSTSGRCh37
Build 361538,367,856 - 38,368,143RGDNCBI36
Celera1517,346,556 - 17,346,843RGD
Cytogenetic Map15q15UniSTS
HuRef1517,423,524 - 17,423,811UniSTS
Stanford-G3 RH Map151097.0UniSTS
NCBI RH Map1599.4UniSTS
GeneMap99-G3 RH Map151097.0UniSTS
MARC_15317-15318:1017258886:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371540,594,707 - 40,595,539UniSTSGRCh37
Build 361538,381,999 - 38,382,831RGDNCBI36
Celera1517,360,689 - 17,361,521RGD
HuRef1517,438,064 - 17,438,896UniSTS


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 pharyngeal arch
High
Medium 537 1180 351 96 1722 47 1004 116 1137 69 258 784 50 733 570 2
Low 1864 1779 1348 511 191 399 3216 1970 2514 304 1141 725 120 471 2131 2 1
Below cutoff 31 29 22 12 24 15 134 104 79 30 43 73 2 87 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_052867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001284297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001284298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001284299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007064458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC020658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF047706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU147302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA981116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB877066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB895700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC934475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC953109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M95678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000260402   ⟹   ENSP00000260402
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,287,909 - 40,307,935 (-)Ensembl
RefSeq Acc Id: ENST00000456256   ⟹   ENSP00000411991
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,288,139 - 40,307,825 (-)Ensembl
RefSeq Acc Id: ENST00000543785   ⟹   ENSP00000444652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,300,667 - 40,307,910 (-)Ensembl
RefSeq Acc Id: ENST00000557821   ⟹   ENSP00000453975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,287,909 - 40,307,837 (-)Ensembl
RefSeq Acc Id: ENST00000558409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,296,565 - 40,297,719 (-)Ensembl
RefSeq Acc Id: ENST00000558505
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,288,572 - 40,291,330 (-)Ensembl
RefSeq Acc Id: ENST00000558588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,287,909 - 40,307,693 (-)Ensembl
RefSeq Acc Id: ENST00000559381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,287,908 - 40,291,329 (-)Ensembl
RefSeq Acc Id: ENST00000559618   ⟹   ENSP00000454025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,287,909 - 40,289,292 (-)Ensembl
RefSeq Acc Id: ENST00000559634
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,303,887 - 40,307,935 (-)Ensembl
RefSeq Acc Id: ENST00000559671   ⟹   ENSP00000452916
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,284,256 - 40,290,672 (-)Ensembl
RefSeq Acc Id: ENST00000560009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,278,176 - 40,289,572 (-)Ensembl
RefSeq Acc Id: ENST00000560093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,298,294 - 40,299,289 (-)Ensembl
RefSeq Acc Id: ENST00000560701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,289,066 - 40,291,353 (-)Ensembl
RefSeq Acc Id: ENST00000561378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,291,874 - 40,293,622 (-)Ensembl
RefSeq Acc Id: NM_001284297   ⟹   NP_001271226
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,287,909 - 40,307,935 (-)NCBI
HuRef1517,423,058 - 17,443,532 (-)NCBI
CHM1_11540,700,041 - 40,720,115 (-)NCBI
T2T-CHM13v2.01538,094,812 - 38,114,815 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001284298   ⟹   NP_001271227
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,287,909 - 40,307,935 (-)NCBI
HuRef1517,423,058 - 17,443,532 (-)NCBI
CHM1_11540,700,041 - 40,720,115 (-)NCBI
T2T-CHM13v2.01538,094,812 - 38,114,815 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001284299   ⟹   NP_001271228
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,300,667 - 40,307,935 (-)NCBI
HuRef1517,423,058 - 17,443,532 (-)NCBI
CHM1_11540,712,811 - 40,720,115 (-)NCBI
T2T-CHM13v2.01538,107,558 - 38,114,815 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004573   ⟹   NP_004564
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,287,909 - 40,307,935 (-)NCBI
GRCh371540,576,461 - 40,600,174 (-)NCBI
Build 361538,367,390 - 38,387,466 (-)NCBI Archive
HuRef1517,423,058 - 17,443,532 (-)ENTREZGENE
CHM1_11540,700,041 - 40,720,115 (-)NCBI
T2T-CHM13v2.01538,094,812 - 38,114,815 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022314   ⟹   XP_016877803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,287,909 - 40,307,935 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022317   ⟹   XP_016877806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,287,909 - 40,307,935 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022319   ⟹   XP_016877808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,285,468 - 40,307,935 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047432667   ⟹   XP_047288623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,287,909 - 40,307,935 (-)NCBI
RefSeq Acc Id: XM_047432668   ⟹   XP_047288624
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,287,909 - 40,307,935 (-)NCBI
RefSeq Acc Id: XM_047432669   ⟹   XP_047288625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,287,909 - 40,307,935 (-)NCBI
RefSeq Acc Id: XM_047432670   ⟹   XP_047288626
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,287,909 - 40,307,935 (-)NCBI
RefSeq Acc Id: XM_047432671   ⟹   XP_047288627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,287,909 - 40,307,935 (-)NCBI
RefSeq Acc Id: XM_047432672   ⟹   XP_047288628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,287,909 - 40,307,935 (-)NCBI
RefSeq Acc Id: XM_047432673   ⟹   XP_047288629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,287,909 - 40,307,935 (-)NCBI
RefSeq Acc Id: XM_047432674   ⟹   XP_047288630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,287,909 - 40,307,935 (-)NCBI
RefSeq Acc Id: XM_047432675   ⟹   XP_047288631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,287,909 - 40,307,935 (-)NCBI
RefSeq Acc Id: XM_047432676   ⟹   XP_047288632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,287,909 - 40,307,935 (-)NCBI
RefSeq Acc Id: XM_047432677   ⟹   XP_047288633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,287,909 - 40,307,935 (-)NCBI
RefSeq Acc Id: XM_047432678   ⟹   XP_047288634
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,287,909 - 40,307,935 (-)NCBI
RefSeq Acc Id: XM_047432679   ⟹   XP_047288635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,284,256 - 40,307,935 (-)NCBI
RefSeq Acc Id: XM_047432680   ⟹   XP_047288636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,284,256 - 40,307,935 (-)NCBI
RefSeq Acc Id: XM_047432681   ⟹   XP_047288637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,285,468 - 40,307,935 (-)NCBI
RefSeq Acc Id: XM_047432682   ⟹   XP_047288638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,284,256 - 40,307,935 (-)NCBI
RefSeq Acc Id: XM_047432683   ⟹   XP_047288639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,285,468 - 40,307,935 (-)NCBI
RefSeq Acc Id: XM_047432684   ⟹   XP_047288640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,284,256 - 40,307,935 (-)NCBI
RefSeq Acc Id: XM_047432685   ⟹   XP_047288641
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,285,468 - 40,307,935 (-)NCBI
RefSeq Acc Id: XM_047432686   ⟹   XP_047288642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,285,468 - 40,307,935 (-)NCBI
RefSeq Acc Id: XM_047432687   ⟹   XP_047288643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,289,272 - 40,307,935 (-)NCBI
RefSeq Acc Id: XM_047432688   ⟹   XP_047288644
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,291,035 - 40,307,935 (-)NCBI
RefSeq Acc Id: XM_047432689   ⟹   XP_047288645
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,299,246 - 40,307,935 (-)NCBI
RefSeq Acc Id: XM_054378189   ⟹   XP_054234164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,094,812 - 38,114,815 (-)NCBI
RefSeq Acc Id: XM_054378190   ⟹   XP_054234165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,094,812 - 38,114,815 (-)NCBI
RefSeq Acc Id: XM_054378191   ⟹   XP_054234166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,094,812 - 38,114,815 (-)NCBI
RefSeq Acc Id: XM_054378192   ⟹   XP_054234167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,094,812 - 38,114,815 (-)NCBI
RefSeq Acc Id: XM_054378193   ⟹   XP_054234168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,094,812 - 38,114,815 (-)NCBI
RefSeq Acc Id: XM_054378194   ⟹   XP_054234169
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,094,812 - 38,114,815 (-)NCBI
RefSeq Acc Id: XM_054378195   ⟹   XP_054234170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,094,812 - 38,114,815 (-)NCBI
RefSeq Acc Id: XM_054378196   ⟹   XP_054234171
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,094,812 - 38,114,815 (-)NCBI
RefSeq Acc Id: XM_054378197   ⟹   XP_054234172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,094,812 - 38,114,815 (-)NCBI
RefSeq Acc Id: XM_054378198   ⟹   XP_054234173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,094,812 - 38,114,815 (-)NCBI
RefSeq Acc Id: XM_054378199   ⟹   XP_054234174
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,094,812 - 38,114,815 (-)NCBI
RefSeq Acc Id: XM_054378200   ⟹   XP_054234175
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,094,812 - 38,114,815 (-)NCBI
RefSeq Acc Id: XM_054378201   ⟹   XP_054234176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,094,812 - 38,114,815 (-)NCBI
RefSeq Acc Id: XM_054378202   ⟹   XP_054234177
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,094,812 - 38,114,815 (-)NCBI
RefSeq Acc Id: XM_054378203   ⟹   XP_054234178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,091,173 - 38,114,815 (-)NCBI
RefSeq Acc Id: XM_054378204   ⟹   XP_054234179
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,092,371 - 38,114,815 (-)NCBI
RefSeq Acc Id: XM_054378205   ⟹   XP_054234180
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,091,173 - 38,114,815 (-)NCBI
RefSeq Acc Id: XM_054378206   ⟹   XP_054234181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,092,371 - 38,114,815 (-)NCBI
RefSeq Acc Id: XM_054378207   ⟹   XP_054234182
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,091,173 - 38,114,815 (-)NCBI
RefSeq Acc Id: XM_054378208   ⟹   XP_054234183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,092,371 - 38,114,815 (-)NCBI
RefSeq Acc Id: XM_054378209   ⟹   XP_054234184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,091,173 - 38,114,815 (-)NCBI
RefSeq Acc Id: XM_054378210   ⟹   XP_054234185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,092,371 - 38,114,815 (-)NCBI
RefSeq Acc Id: XM_054378211   ⟹   XP_054234186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,092,371 - 38,114,815 (-)NCBI
RefSeq Acc Id: XM_054378212   ⟹   XP_054234187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,096,175 - 38,114,815 (-)NCBI
RefSeq Acc Id: XM_054378213   ⟹   XP_054234188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,097,926 - 38,114,815 (-)NCBI
RefSeq Acc Id: XM_054378214   ⟹   XP_054234189
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,106,137 - 38,114,815 (-)NCBI
RefSeq Acc Id: XR_007064458
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,295,852 - 40,307,935 (-)NCBI
RefSeq Acc Id: XR_008488966
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,102,743 - 38,114,815 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001271226 (Get FASTA)   NCBI Sequence Viewer  
  NP_001271227 (Get FASTA)   NCBI Sequence Viewer  
  NP_001271228 (Get FASTA)   NCBI Sequence Viewer  
  NP_004564 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877803 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877806 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877808 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288623 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288624 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288625 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288626 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288627 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288628 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288629 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288630 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288631 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288632 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288633 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288634 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288635 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288636 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288637 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288638 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288639 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288640 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288641 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288642 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288643 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288644 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288645 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234164 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234165 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234166 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234167 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234168 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234169 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234170 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234171 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234172 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234173 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234174 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234175 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234176 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234177 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234178 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234179 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234180 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234181 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234182 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234183 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234184 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234185 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234186 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234187 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234188 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234189 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36453 (Get FASTA)   NCBI Sequence Viewer  
  AAH00939 (Get FASTA)   NCBI Sequence Viewer  
  AAH09009 (Get FASTA)   NCBI Sequence Viewer  
  AAI36468 (Get FASTA)   NCBI Sequence Viewer  
  AAP35551 (Get FASTA)   NCBI Sequence Viewer  
  BAC85441 (Get FASTA)   NCBI Sequence Viewer  
  BAD92820 (Get FASTA)   NCBI Sequence Viewer  
  BAF84346 (Get FASTA)   NCBI Sequence Viewer  
  CBF62882 (Get FASTA)   NCBI Sequence Viewer  
  CBF74549 (Get FASTA)   NCBI Sequence Viewer  
  CBU87758 (Get FASTA)   NCBI Sequence Viewer  
  CBU96705 (Get FASTA)   NCBI Sequence Viewer  
  EAW92402 (Get FASTA)   NCBI Sequence Viewer  
  EAW92403 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000260402
  ENSP00000260402.3
  ENSP00000411991
  ENSP00000411991.2
  ENSP00000444652
  ENSP00000444652.2
  ENSP00000452916.1
  ENSP00000453975
  ENSP00000453975.1
  ENSP00000454025.1
GenBank Protein Q00722 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_004564   ⟸   NM_004573
- Peptide Label: isoform 1
- UniProtKB: A8K6J2 (UniProtKB/Swiss-Prot),   B9EGH5 (UniProtKB/Swiss-Prot),   Q00722 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001271226   ⟸   NM_001284297
- Peptide Label: isoform 2
- UniProtKB: Q00722 (UniProtKB/Swiss-Prot),   Q59F77 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001271227   ⟸   NM_001284298
- Peptide Label: isoform 3
- UniProtKB: Q00722 (UniProtKB/Swiss-Prot),   Q59F77 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001271228   ⟸   NM_001284299
- Peptide Label: isoform 4
- UniProtKB: Q9BVT6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016877808   ⟸   XM_017022319
- Peptide Label: isoform X16
- Sequence:
RefSeq Acc Id: XP_016877803   ⟸   XM_017022314
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016877806   ⟸   XM_017022317
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000444652   ⟸   ENST00000543785
RefSeq Acc Id: ENSP00000453975   ⟸   ENST00000557821
RefSeq Acc Id: ENSP00000454025   ⟸   ENST00000559618
RefSeq Acc Id: ENSP00000452916   ⟸   ENST00000559671
RefSeq Acc Id: ENSP00000411991   ⟸   ENST00000456256
RefSeq Acc Id: ENSP00000260402   ⟸   ENST00000260402
RefSeq Acc Id: XP_047288640   ⟸   XM_047432684
- Peptide Label: isoform X21
RefSeq Acc Id: XP_047288638   ⟸   XM_047432682
- Peptide Label: isoform X19
RefSeq Acc Id: XP_047288636   ⟸   XM_047432680
- Peptide Label: isoform X17
RefSeq Acc Id: XP_047288635   ⟸   XM_047432679
- Peptide Label: isoform X15
RefSeq Acc Id: XP_047288642   ⟸   XM_047432686
- Peptide Label: isoform X23
RefSeq Acc Id: XP_047288641   ⟸   XM_047432685
- Peptide Label: isoform X22
RefSeq Acc Id: XP_047288637   ⟸   XM_047432681
- Peptide Label: isoform X18
RefSeq Acc Id: XP_047288639   ⟸   XM_047432683
- Peptide Label: isoform X20
RefSeq Acc Id: XP_047288634   ⟸   XM_047432678
- Peptide Label: isoform X14
RefSeq Acc Id: XP_047288633   ⟸   XM_047432677
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047288631   ⟸   XM_047432675
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047288628   ⟸   XM_047432672
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047288624   ⟸   XM_047432668
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047288632   ⟸   XM_047432676
- Peptide Label: isoform X12
RefSeq Acc Id: XP_047288629   ⟸   XM_047432673
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047288626   ⟸   XM_047432670
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047288625   ⟸   XM_047432669
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047288630   ⟸   XM_047432674
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047288627   ⟸   XM_047432671
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047288623   ⟸   XM_047432667
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047288643   ⟸   XM_047432687
- Peptide Label: isoform X24
- UniProtKB: Q59F77 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288644   ⟸   XM_047432688
- Peptide Label: isoform X25
- UniProtKB: Q59F77 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288645   ⟸   XM_047432689
- Peptide Label: isoform X26
RefSeq Acc Id: XP_054234184   ⟸   XM_054378209
- Peptide Label: isoform X21
RefSeq Acc Id: XP_054234182   ⟸   XM_054378207
- Peptide Label: isoform X19
RefSeq Acc Id: XP_054234180   ⟸   XM_054378205
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054234178   ⟸   XM_054378203
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054234186   ⟸   XM_054378211
- Peptide Label: isoform X23
RefSeq Acc Id: XP_054234185   ⟸   XM_054378210
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054234181   ⟸   XM_054378206
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054234183   ⟸   XM_054378208
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054234179   ⟸   XM_054378204
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054234177   ⟸   XM_054378202
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054234176   ⟸   XM_054378201
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054234174   ⟸   XM_054378199
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054234171   ⟸   XM_054378196
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054234166   ⟸   XM_054378191
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054234175   ⟸   XM_054378200
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054234172   ⟸   XM_054378197
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054234169   ⟸   XM_054378194
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054234168   ⟸   XM_054378193
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054234173   ⟸   XM_054378198
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054234170   ⟸   XM_054378195
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054234165   ⟸   XM_054378190
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054234167   ⟸   XM_054378192
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054234164   ⟸   XM_054378189
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054234187   ⟸   XM_054378212
- Peptide Label: isoform X24
- UniProtKB: Q59F77 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234188   ⟸   XM_054378213
- Peptide Label: isoform X25
- UniProtKB: Q59F77 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234189   ⟸   XM_054378214
- Peptide Label: isoform X26
Protein Domains
C2   Phospholipase C-beta C-terminal   PI-PLC X-box   PI-PLC Y-box   PLC-beta PH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q00722-F1-model_v2 AlphaFold Q00722 1-1185 view protein structure

Promoters
RGD ID:6792522
Promoter ID:HG_KWN:21032
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:UC001ZLC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361538,370,606 - 38,371,106 (-)MPROMDB
RGD ID:6792528
Promoter ID:HG_KWN:21033
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000389812,   NM_004573,   UC001ZLE.2,   UC010BBO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361538,387,261 - 38,388,392 (-)MPROMDB
RGD ID:7229089
Promoter ID:EPDNEW_H20290
Type:initiation region
Name:PLCB2_1
Description:phospholipase C beta 2
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
GRCh381540,307,848 - 40,307,908EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9055 AgrOrtholog
COSMIC PLCB2 COSMIC
Ensembl Genes ENSG00000137841 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000260402 ENTREZGENE
  ENST00000260402.8 UniProtKB/Swiss-Prot
  ENST00000456256 ENTREZGENE
  ENST00000456256.6 UniProtKB/Swiss-Prot
  ENST00000543785 ENTREZGENE
  ENST00000543785.3 UniProtKB/TrEMBL
  ENST00000557821 ENTREZGENE
  ENST00000557821.5 UniProtKB/Swiss-Prot
  ENST00000559618.1 UniProtKB/TrEMBL
  ENST00000559671.5 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1230.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.240 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 ENSG00000137841 GTEx
HGNC ID HGNC:9055 ENTREZGENE
Human Proteome Map PLCB2 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
  PI-PLC_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLC-beta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLC-beta2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLC-beta_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLC-beta_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLC-beta_PH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLC-like_Pdiesterase_TIM-brl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLC_EF-hand-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLCbeta2_EF 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:5330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5330 ENTREZGENE
OMIM 604114 OMIM
PANTHER PTHR10336 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10336:SF10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EF-hand_like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00168 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI-PLC-X UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI-PLC-Y UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLC-beta_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33385 PharmGKB
PIRSF PLC-beta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS PHPHLIPASEC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PIPLC_X_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PIPLC_Y_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50004 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PLCXc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLCYc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00239 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP C-terminal domain of PLC-beta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  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 A8K6J2 ENTREZGENE
  B9EGH5 ENTREZGENE
  H0YKR9_HUMAN UniProtKB/TrEMBL
  H0YNI4_HUMAN UniProtKB/TrEMBL
  PLCB2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q59F77 ENTREZGENE, UniProtKB/TrEMBL
  Q9BVT6 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A8K6J2 UniProtKB/Swiss-Prot
  B9EGH5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PLCB2  phospholipase C beta 2    phospholipase C, beta 2  Symbol and/or name change 5135510 APPROVED