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Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000933 Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $1699.00 25

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RefSeq Version NM_000933.3, 289547588
Length 5425 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.
Product 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform a
Comment

Summary: The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals in the retina. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2010].


Transcript Variant: This variant (1) lacks an alternate in-frame exon in the central coding region and includes an alternate exon in the 3' coding region that results in a frameshift, compared to variant 3. The complete exon combination of the 5' UTR for this variant has not been determined. The resulting isoform (a) lacks an internal segment and has a longer and distinct C-terminus, compared to isoform c.

RefSeq NP_000924.3
CDS 16..3600
Misc Feature(1)19..21
Misc Feature(2)19..21
Misc Feature(3)49..411
Misc Feature(4)order(70..93,118..138,154..174,187..201,214..228,304..324,
Misc Feature(5)order(88..90,106..108,124..126,172..174)
Misc Feature(6)676..951
Misc Feature(7)949..>1374
Misc Feature(8)order(997..1002,1087..1089,1093..1095,1138..1140,
Misc Feature(9)order(997..999,1138..1140)
Misc Feature(10)order(1000..1002,1087..1089,1093..1095,1240..1242)
Misc Feature(11)<1708..2019
Misc Feature(12)2119..2469
Misc Feature(13)order(2170..2172,2248..2250,2341..2343,2347..2349,
Misc Feature(14)2671..2673
Misc Feature(15)2737..>3342
Misc Feature(16)2740..2880
Misc Feature(17)3118..3519
Exon (1)1..99
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (2)100..180
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (3)181..240
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (4)241..384
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (5)385..464
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (6)465..518
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (7)519..600
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (8)601..701
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (9)702..759
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (10)760..868
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (11)869..1079
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (12)1080..1173
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (13)1174..1253
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (14)1254..1338
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (15)1339..1429
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (16)1430..1525
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (17)1526..1626
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (18)1627..1768
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (19)1769..1853
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (20)1854..1978
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (21)1979..2030
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (22)2031..2133
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (23)2134..2298
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (24)2299..2503
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (25)2504..2592
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (26)2593..2743
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (27)2744..2793
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (28)2794..2859
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (29)2860..2975
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (30)2976..3051
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (31)3052..3227
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (32)3228..3329
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (33)3330..3387
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (34)3388..3474
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (35)3475..3511
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Exon (36)3512..5407
Gene:PLCB4
Gene Synonym:ARCND2; PI-PLC
Translation MAKPYEFNWQKEVPSFLQEGAVFDRYEEESFVFEPNCLFKVDEFGFFLTWRSEGKEGQVL ECSLINSIRSGAIPKDPKILAALEAVGKSENDLEGRIVCVCSGTDLVNISFTYMVAENPE VTKQWVEGLRSIIHNFRANNVSPMTCLKKHWMKLAFMTNTNGKIPVRSITRTFASGKTEK VIFQALKELGLPSGKNDEIEPTAFSYEKFYELTQKICPRTDIEDLFKKINGDKTDYLTVD QLVSFLNEHQRDPRLNEILFPFYDAKRAMQIIEMYEPDEDLKKKGLISSDGFCRYLMSDE NAPVFLDRLELYQEMDHPLAHYFISSSHNTYLTGRQFGGKSSVEMYRQVLLAGCRCVELD CWDGKGEDQEPIITHGKAMCTDILFKDVIQAIKETAFVTSEYPVILSFENHCSKYQQYKM SKYCEDLFGDLLLKQALESHPLEPGRALPSPNDLKRKILIKNKRLKPEVEKKQLEALRSM MEAGESASPANILEDDNEEEIESADQEEEAHPEFKFGNELSADDLGHKEAVANSVKKGLV TVEDEQAWMASYKYVGATTNIHPYLSTMINYAQPVKFQGFHVAEERNIHYNMSSFNESVG LGYLKTHAIEFVNYNKRQMSRIYPKGGRVDSSNYMPQIFWNAGCQMVSLNYQTPDLAMQL NQGKFEYNGSCGYLLKPDFMRRPDRTFDPFSETPVDGVIAATCSVQVISGQFLSDKKIGT YVEVDMYGLPTDTIRKEFRTRMVMNNGLNPVYNEESFVFRKVILPDLAVLRIAVYDDNNK LIGQRILPLDGLQAGYRHISLRNEGNKPLSLPTIFCNIVLKTYVPDGFGDIVDALSDPKK FLSITEKRADQMRAMGIETSDIADVPSDTSKNDKKGKANTAKANVTPQSSSELRPTTTAA LASGVEAKKGIELIPQVRIEDLKQMKAYLKHLKKQQKELNSLKKKHAKEHSTMQKLHCTQ VDKIVAQYDKEKSTHEKILEKAMKKKGGSNCLEMKKETEIKIQTLTSDHKSKVKEIVAQH TKEWSEMINTHSAEEQEIRDLHLSQQCELLKKLLINAHEQQTQQLKLSHDRESKEMRAHQ AKISMENSKAISQDKSIKNKAERERRVRELNSSNTKKFLEERKRLAMKQSKEMDQLKKVQ LEHLEFLEKQNEQLLKSCHAVSQTQGEGDAADGEIGSRDGPQTSNSSMKLQNAN
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Position Chain Variation Link
76+a, gdbSNP:6077510
77+a, cdbSNP:145938987
117+dbSNP:
117+a, cdbSNP:79117673
216+dbSNP:
216+c, tdbSNP:144506345
262+dbSNP:
262+c, gdbSNP:139867288
263+c, tdbSNP:144246653
325+a, gdbSNP:143225778
423+dbSNP:
423+a, cdbSNP:193921109
436+a, gdbSNP:144345083
450+a, gdbSNP:148763238
456+a, cdbSNP:75853397
477+dbSNP:
477+a, gdbSNP:142392531
509+c, tdbSNP:145492204
622+dbSNP:
622+a, gdbSNP:151335126
636+a, gdbSNP:140598847
652+a, tdbSNP:145396163
848+dbSNP:
848+a, tdbSNP:147655952
918+dbSNP:
918+c, tdbSNP:142446000
931+c, tdbSNP:6039452
937+c, tdbSNP:78074693
951+c, tdbSNP:138780838
1116+dbSNP:
1116+a, gdbSNP:1046939
1166+, tdbSNP:35771445
1305+dbSNP:
1305+c, tdbSNP:148885261
1331+c, gdbSNP:143544980
1337+a, cdbSNP:148072006
1353+dbSNP:
1353+a, gdbSNP:1129249
1379+a, gdbSNP:142617224
1443+dbSNP:
1443+c, tdbSNP:140773788
1477+g, tdbSNP:185740474
1561+dbSNP:
1561+c, tdbSNP:199831187
1562+c, tdbSNP:201119760
1617+c, tdbSNP:201929769
1655+dbSNP:
1655+c, tdbSNP:138509890
1656+c, tdbSNP:35479108
1665+a, gdbSNP:150752900
1701+c, tdbSNP:139085211
1728+c, tdbSNP:149835904
1841+dbSNP:
1841+c, tdbSNP:144786199
1869+dbSNP:
1869+a, gdbSNP:140196189
1902+c, tdbSNP:145620817
1974+c, tdbSNP:200331772
2025+dbSNP:
2025+a, gdbSNP:200584230
2076+dbSNP:
2076+c, tdbSNP:201245595
2143+dbSNP:
2143+a, gdbSNP:6118603
2223+a, gdbSNP:6118604
2281+a, tdbSNP:200707813
2284+a, c, tdbSNP:1129250
2293+c, tdbSNP:148851937
2310+dbSNP:
2310+a, c, gdbSNP:147575829
2379+a, gdbSNP:16995899
2428+g, tdbSNP:199684222
2534+dbSNP:
2534+a, cdbSNP:1046942
2545+a, gdbSNP:151284195
2589+a, gdbSNP:1129252
2607+dbSNP:
2607+a, gdbSNP:35218589
2646+a, gdbSNP:150350714
2655+a, gdbSNP:34678819
2696+a, gdbSNP:112585987
2709+a, gdbSNP:141128673
2757+dbSNP:
2757+c, gdbSNP:144853204
2794+dbSNP:
2794+a, gdbSNP:199578084
2837+a, cdbSNP:148347249
2909+dbSNP:
2909+g, tdbSNP:8183759
2915+a, gdbSNP:141568926
2917+c, tdbSNP:143440956
2973+a, gdbSNP:1129253
2992+dbSNP:
2992+a, gdbSNP:199973230
3003+a, gdbSNP:148020153
3024+c, tdbSNP:35285428
3047+c, tdbSNP:6108299
3101+dbSNP:
3101+a, gdbSNP:147312767
3105+c, tdbSNP:142390367
3131+a, gdbSNP:150881165
3166+a, cdbSNP:202045972
3189+c, tdbSNP:140050954
3271+dbSNP:
3271+a, gdbSNP:151304334
3285+a, cdbSNP:144121082
3294+a, gdbSNP:147334682
3393+dbSNP:
3393+c, gdbSNP:141010061
3394+a, cdbSNP:6056634
3418+a, cdbSNP:184402554
3454+c, tdbSNP:6140947
3481+dbSNP:
3481+a, gdbSNP:149783804
3506+c, tdbSNP:201180497
3513+dbSNP:
3513+c, tdbSNP:145676690
3527+c, tdbSNP:201816701
3750+g, tdbSNP:41275610
3795+a, gdbSNP:189681230
3830+c, gdbSNP:149256309
3871+c, tdbSNP:2076392
3901+g, tdbSNP:112447507
3945+c, tdbSNP:77776955
3974+a, gdbSNP:138221578
4034+a, tdbSNP:6140952
4163+, gdbSNP:148015873
4251+, tdbSNP:71677610
4294+c, tdbSNP:181298911
4338+a, gdbSNP:41275612
4388+c, gdbSNP:185426541
4421+a, gdbSNP:189113726
4555+c, tdbSNP:114844715
4603+a, cdbSNP:74772813
4628+a, gdbSNP:143716072
4736+a, cdbSNP:181369739
4802+a, gdbSNP:114009007
4842+a, gdbSNP:187212972
4953+a, gdbSNP:192145916
5088+c, gdbSNP:182656088
5310+a, tdbSNP:186199616
5331+a, tdbSNP:147197006
5366+a, gdbSNP:189786768
Gene SymbolPLCB4
Gene SynonymARCND2; PI-PLC
Chromosome20
Locus Map20p12
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000933 Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. On-demand $1699.00 25
NM_001172646 Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 3, mRNA. On-demand $1699.00 25
NM_182797 Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 2, mRNA. On-demand $1699.00 25
Title A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome .
Author Rieder,M.J., Green,G.E., Park,S.S., Stamper,B.D., Gordon,C.T., Johnson,J.M., Cunniff,C.M., Smith,J.D., Emery,S.B., Lyonnet,S., Amiel,J., Holder,M., Heggie,A.A., Bamshad,M.J., Nickerson,D.A., Cox,T.C., Hing,A.V., Horst,J.A. and Cunningham,M.L.
Journal Am. J. Hum. Genet. 90 (5), 907-914 (2012)
Title Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study .
Author Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
Journal Diabetes Care 33 (10), 2250-2253 (2010)
Title Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients .
Author Saus,E., Brunet,A., Armengol,L., Alonso,P., Crespo,J.M., Fernandez-Aranda,F., Guitart,M., Martin-Santos,R., Menchon,J.M., Navines,R., Soria,V., Torrens,M., Urretavizcaya,M., Valles,V., Gratacos,M. and Estivill,X.
Journal J Psychiatr Res 44 (14), 971-978 (2010)
Title Circadian clock gene polymorphisms in alcohol use disorders and alcohol consumption .
Author Kovanen,L., Saarikoski,S.T., Haukka,J., Pirkola,S., Aromaa,A., Lonnqvist,J. and Partonen,T.
Journal Alcohol Alcohol. 45 (4), 303-311 (2010)
Title CLOCK is suggested to associate with comorbid alcohol use and depressive disorders .
Author Sjoholm,L.K., Kovanen,L., Saarikoski,S.T., Schalling,M., Lavebratt,C. and Partonen,T.
Journal J Circadian Rhythms 8, 1 (2010)
Title Genetic mapping of the human and mouse phospholipase C genes .
Author Lyu,M.S., Park,D.J., Rhee,S.G. and Kozak,C.A.
Journal Mamm. Genome 7 (7), 501-504 (1996)
Title cDNA sequence and gene locus of the human retinal phosphoinositide-specific phospholipase-C beta 4 (PLCB4) .
Author Alvarez,R.A., Ghalayini,A.J., Xu,P., Hardcastle,A., Bhattacharya,S., Rao,P.N., Pettenati,M.J., Anderson,R.E. and Baehr,W.
Journal Genomics 29 (1), 53-61 (1995)
Title Exogenous human immunodeficiency virus type-1 Tat protein selectively stimulates a phosphatidylinositol-specific phospholipase C nuclear pathway in the Jurkat T cell line .
Author Zauli,G., Previati,M., Caramelli,E., Bassini,A., Falcieri,E., Gibellini,D., Bertolaso,L., Bosco,D., Robuffo,I. and Capitani,S.
Journal Eur. J. Immunol. 25 (9), 2695-2700 (1995)
Title Phospholipase C-beta 1 is a GTPase-activating protein for Gq/11, its physiologic regulator .
Author Berstein,G., Blank,J.L., Jhon,D.Y., Exton,J.H., Rhee,S.G. and Ross,E.M.
Journal Cell 70 (3), 411-418 (1992)
Title Purification and characterization of membrane-bound phospholipase C specific for phosphoinositides from human platelets .
Author Banno,Y., Yada,Y. and Nozawa,Y.
Journal J. Biol. Chem. 263 (23), 11459-11465 (1988)


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