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Database:

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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 30-MAR-2014
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)64..444
Misc Feature(4)order(79..81,85..87,121..123,172..174,364..366)
Misc Feature(5)order(88..90,94..96,112..114,118..120,124..126,169..174)
Misc Feature(6)667..2436
Misc Feature(7)676..951
Misc Feature(8)949..2019
Misc Feature(9)order(997..1002,1087..1089,1093..1095,1138..1140,
Misc Feature(10)order(997..999,1138..1140)
Misc Feature(11)order(1000..1002,1087..1089,1093..1095,1240..1242)
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)2740..2880
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
complement(117)-dbSNP:
complement(117)-c, adbSNP:79117673
123+c, tdbSNP:377764267
134+a, cdbSNP:374145454
216+dbSNP:
216+c, tdbSNP:144506345
221+a, gdbSNP:369834145
262+dbSNP:
262+c, gdbSNP:139867288
263+c, tdbSNP:144246653
325+a, gdbSNP:143225778
423+dbSNP:
423+a, cdbSNP:193921109
436+a, gdbSNP:144345083
456+a, cdbSNP:75853397
477+dbSNP:
477+a, gdbSNP:142392531
509+c, tdbSNP:145492204
542+dbSNP:
542+a, gdbSNP:267606065
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
990+c, tdbSNP:369186435
1001+a, gdbSNP:387907179
1029+c, tdbSNP:373426676
1041+a, gdbSNP:377413318
1068+c, gdbSNP:369730584
1088+dbSNP:
1088+a, tdbSNP:397514769
1093+a, gdbSNP:397514770
1094+a, tdbSNP:397514771
1116+a, gdbSNP:1046939
1170+, tdbSNP:35771445
1180+dbSNP:
1180+a, cdbSNP:373874403
1303+dbSNP:
1303+a, gdbSNP:377059001
1305+c, tdbSNP:148885261
1323+a, gdbSNP:369445596
1331+c, gdbSNP:143544980
1337+a, cdbSNP:148072006
1352+dbSNP:
1352+a, gdbSNP:372568895
1353+a, gdbSNP:1129249
1379+a, gdbSNP:142617224
1443+dbSNP:
1443+c, tdbSNP:140773788
1477+g, tdbSNP:185740474
1500+c, tdbSNP:374048213
1551+dbSNP:
1551+c, tdbSNP:368947166
1561+c, tdbSNP:199831187
1562+c, tdbSNP:201119760
1616+a, gdbSNP:372326743
1617+c, tdbSNP:201929769
1655+dbSNP:
1655+c, tdbSNP:138509890
1656+c, tdbSNP:35479108
1665+a, gdbSNP:150752900
1701+c, tdbSNP:139085211
1717+a, gdbSNP:369233949
1728+c, tdbSNP:149835904
1738+a, gdbSNP:370637020
1829+dbSNP:
1829+a, gdbSNP:368335202
1869+dbSNP:
1869+a, gdbSNP:140196189
1876+c, tdbSNP:397514482
1877+a, g, tdbSNP:397514481
1883+a, gdbSNP:397514480
1902+c, tdbSNP:145620817
1963+a, cdbSNP:397514483
1965+c, tdbSNP:367960845
1974+c, tdbSNP:200331772
2025+dbSNP:
2025+a, gdbSNP:200584230
2076+dbSNP:
2076+c, tdbSNP:201245595
2143+dbSNP:
2143+a, gdbSNP:6118603
2213+c, tdbSNP:370308281
2223+a, gdbSNP:6118604
2224+a, gdbSNP:267606066
2281+a, tdbSNP:200707813
2284+a, c, tdbSNP:1129250
2293+c, tdbSNP:148851937
2310+dbSNP:
2310+a, c, gdbSNP:147575829
2379+a, gdbSNP:16995899
2397+c, tdbSNP:371725939
2428+g, tdbSNP:199684222
2524+dbSNP:
2524+a, gdbSNP:267606067
2534+a, cdbSNP:1046942
2545+a, gdbSNP:151284195
2574+a, gdbSNP:375514750
2589+a, gdbSNP:1129252
2604+dbSNP:
2604+c, tdbSNP:373295055
complement(2607)-g, adbSNP:35218589
2646+a, gdbSNP:150350714
2655+a, gdbSNP:34678819
2656+a, gdbSNP:375191340
2684+a, gdbSNP:367967938
2696+a, gdbSNP:112585987
2709+a, gdbSNP:141128673
2757+dbSNP:
2757+c, gdbSNP:144853204
2773+c, gdbSNP:377623855
2794+dbSNP:
2794+a, gdbSNP:199578084
2837+a, cdbSNP:148347249
2897+dbSNP:
2897+c, tdbSNP:371521968
2909+g, tdbSNP:8183759
2915+a, gdbSNP:141568926
2916+a, gdbSNP:373715799
2917+c, tdbSNP:143440956
2973+a, gdbSNP:1129253
2975+a, gdbSNP:267606068
2992+dbSNP:
2992+a, gdbSNP:199973230
3007+a, gdbSNP:377357771
3011+a, cdbSNP:375342571
3024+c, tdbSNP:35285428
3027+a, gdbSNP:369688642
3030+a, gdbSNP:375379791
3047+c, tdbSNP:6108299
3071+dbSNP:
3071+a, gdbSNP:377707845
3101+a, gdbSNP:147312767
3105+c, tdbSNP:142390367
3131+a, gdbSNP:150881165
3166+a, cdbSNP:202045972
3189+c, g, tdbSNP:140050954
3203+a, gdbSNP:375126953
3255+dbSNP:
3255+a, gdbSNP:372931883
3256+c, gdbSNP:375933700
3271+a, gdbSNP:151304334
3285+a, cdbSNP:144121082
3294+a, gdbSNP:147334682
3314+a, gdbSNP:370272793
3344+dbSNP:
3344+c, tdbSNP:368570553
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
3517+a, gdbSNP:370113770
3527+c, tdbSNP:201816701
3649+c, tdbSNP:375608152
3664+a, tdbSNP:372023385
3750+g, tdbSNP:41275610
3795+a, gdbSNP:189681230
3830+c, gdbSNP:149256309
complement(3871)-t, cdbSNP:2076392
3901+g, tdbSNP:112447507
3942+c, tdbSNP:375356531
3945+c, tdbSNP:77776955
3974+a, gdbSNP:138221578
4034+a, tdbSNP:6140952
4163+, gdbSNP:148015873
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
complement(5331)-t, adbSNP:147197006
5361+a, gdbSNP:371725616
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_182797 Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 2, mRNA. On-demand $1699.00 25
NM_001172646 Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 3, mRNA. On-demand $1699.00 25
XM_006723568 PREDICTED: Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant X8, mRNA. On-demand $1699.00 25
XM_006723569 PREDICTED: Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant X9, mRNA. On-demand $1699.00 25
XM_005260724 PREDICTED: Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant X3, mRNA. On-demand $1699.00 25
XM_006723570 PREDICTED: Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant X10, mRNA. On-demand $1699.00 25
XM_006723571 PREDICTED: Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant X11, mRNA. On-demand $1699.00 25
XM_006723572 PREDICTED: Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant X12, mRNA. On-demand $1699.00 25
XM_005260728 PREDICTED: Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant X7, mRNA. On-demand $899.00 20
Title Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations .
Author Kido Y, Gordon CT, Sakazume S, Ben Bdira E, Dattani M, Wilson LC, Lyonnet S, Murakami N, Cunningham ML, Amiel J and Nagai T.
Journal Am. J. Med. Genet. A 161 (9), 2339-2346 (2013)
Title PLCbeta isoforms differ in their subcellular location and their CT-domain dependent interaction with Galphaq .
Author Adjobo-Hermans MJ, Crosby KC, Putyrski M, Bhageloe A, van Weeren L, Schultz C, Goedhart J and Gadella TW Jr.
Journal Cell. Signal. 25 (1), 255-263 (2013)
Title A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome .
Author Rieder MJ, Green GE, Park SS, Stamper BD, Gordon CT, Johnson JM, Cunniff CM, Smith JD, Emery SB, Lyonnet S, Amiel J, Holder M, Heggie AA, Bamshad MJ, Nickerson DA, Cox TC, Hing AV, Horst JA and Cunningham ML.
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 SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC and Anand S.
Journal Diabetes Care 33 (10), 2250-2253 (2010)
Title Circadian clock gene polymorphisms in alcohol use disorders and alcohol consumption .
Author Kovanen L, Saarikoski ST, Haukka J, Pirkola S, Aromaa A, Lonnqvist
Journal Alcohol Alcohol. 45 (4), 303-311 (2010)
Title Genetic mapping of the human and mouse phospholipase C genes .
Author Lyu MS, Park DJ, Rhee SG and Kozak CA.
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 RA, Ghalayini AJ, Xu P, Hardcastle A, Bhattacharya S, Rao PN, Pettenati MJ, Anderson RE 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 JL, Jhon DY, Exton JH, Rhee SG and Ross EM.
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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