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Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 2, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_024791 Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $699.00 18

*Business Day

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RefSeq Version NM_024791.3, 270483750
Length 2245 bp
Structure linear
Update Date 16-MAR-2014
Organism Homo sapiens (human)
Definition Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 2, mRNA.
Product Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform 2
Comment

Summary: Guanylyl cyclase C (GCC, or GUCY2C; MIM 601330) produces cGMP following the binding of either endogenous ligands or heat-stable enterotoxins secreted by E. coli and other enteric bacteria. Activation of GCC initiates a signaling cascade that leads to phosphorylation of the cystic fibrosis transmembrane conductance regulator (CFTR; MIM 602421), followed by a net efflux of ions and water into the intestinal lumen. IKEPP is a regulatory protein that associates with GCC and regulates the amount of cGMP produced following receptor stimulation (Scott et al., 2002 [PubMed 11950846]).[supplied by OMIM, Mar 2008].


Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.


##Evidence-Data-START## Transcript exon combination :: BC029042.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025081, ERS025083 [ECO:0000350] ##Evidence-Data-END##

RefSeq NP_079067.3
CDS 39..1514
Misc Feature(1)177..419
Misc Feature(2)177..419
Misc Feature(3)order(213..224,228..230,369..374,381..386)
Misc Feature(4)501..692
Misc Feature(5)order(534..545,549..551,654..659)
Misc Feature(6)777..1025
Misc Feature(7)order(810..821,825..827,975..980,987..992)
Misc Feature(8)1194..1433
Misc Feature(9)order(1227..1238,1242..1244,1383..1388,1395..1400)
Exon (1)1..54
Gene:PDZD3
Gene Synonym:IKEPP; NHERF4; PDZK2
Exon (2)55..82
Gene:PDZD3
Gene Synonym:IKEPP; NHERF4; PDZK2
Exon (3)83..156
Gene:PDZD3
Gene Synonym:IKEPP; NHERF4; PDZK2
Exon (4)157..368
Gene:PDZD3
Gene Synonym:IKEPP; NHERF4; PDZK2
Exon (5)369..558
Gene:PDZD3
Gene Synonym:IKEPP; NHERF4; PDZK2
Exon (6)559..653
Gene:PDZD3
Gene Synonym:IKEPP; NHERF4; PDZK2
Exon (7)654..858
Gene:PDZD3
Gene Synonym:IKEPP; NHERF4; PDZK2
Exon (8)859..1055
Gene:PDZD3
Gene Synonym:IKEPP; NHERF4; PDZK2
Exon (9)1056..1283
Gene:PDZD3
Gene Synonym:IKEPP; NHERF4; PDZK2
Exon (10)1284..1484
Gene:PDZD3
Gene Synonym:IKEPP; NHERF4; PDZK2
Exon (11)1485..2245
Gene:PDZD3
Gene Synonym:IKEPP; NHERF4; PDZK2
Translation MEKAADLQDTASLTLKFKFNPKLGIDNPVLSLAEDHDPYDPWSLERPRFCLLSKEEGKSF GFHLQQELGRAGHVVCRVDPGTSAQRQGLQEGDRILAVNNDVVEHEDYAVVVRRIRASSP RVLLTVLARHAHDVARAQLGEDAHLCPTLGPGVRPRLCHIVKDEGGFGFSVTHGNQGPFW LVLSTGGAAERAGVPPGARLLEVNGLWQSGQQVTLLVAGPEVEEQCRQLGLPLAAPLAEG WALPTKPRCLHLEKGPQGFGFLLREEKGLDGRPGQFLWEVDPGLPAKKAGMQAGDRLVAV AGESVEGLGHEETVSRIQGQGSCVSLTVVDPEADRFFSMVRLSPLLFLENTEAPASPRGS SSASLVETEDPSLEDTSVPSVPLGSRQCFLYPGPGGSYGFRLSCVASGPRLFISQVTPGG SAARAGLQVGDVILEVNGYPVGGQNDLERLQQLPEAEPPLCLKLAARSLRGLEAWIPPGA AEDWALASDLL
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Position Chain Variation Link
14+dbSNP:
14+c, gdbSNP:375239137
44+a, gdbSNP:11217174
49+a, cdbSNP:150387600
66+dbSNP:
66+a, gdbSNP:138112455
117+dbSNP:
117+a, gdbSNP:377671878
137+c, gdbSNP:369620980
146+c, tdbSNP:374000997
147+a, gdbSNP:145857998
148+a, cdbSNP:138704363
155+a, c, tdbSNP:202222447
166+dbSNP:
166+g, tdbSNP:149277157
171+a, gdbSNP:201260975
175+a, gdbSNP:144418756
180+c, tdbSNP:373801289
204+a, gdbSNP:200463631
227+c, tdbSNP:147984195
238+a, tdbSNP:376943661
241+c, tdbSNP:373304084
295+a, c, gdbSNP:200701949
312+a, gdbSNP:141570563
329+a, gdbSNP:150917049
332+a, gdbSNP:139670769
341+c, tdbSNP:374065819
365+g, tdbSNP:199546449
376+dbSNP:
376+a, gdbSNP:375586913
384+c, tdbSNP:144436412
395+, cdbSNP:34614653
437+c, tdbSNP:201422941
480+a, cdbSNP:146127167
492+c, gdbSNP:201777384
499+a, gdbSNP:371953841
504+c, tdbSNP:140060249
505+a, gdbSNP:374149447
516+a, gdbSNP:148981432
531+a, gdbSNP:368842831
540+a, gdbSNP:145705585
553+a, cdbSNP:35242532
554+c, tdbSNP:372770107
627+dbSNP:
627+a, gdbSNP:142670540
634+a, gdbSNP:377213680
642+g, tdbSNP:200700939
672+dbSNP:
672+a, c, gdbSNP:147147532
678+a, cdbSNP:372965400
717+c, tdbSNP:147651078
718+a, gdbSNP:200101407
719+c, gdbSNP:142290632
840+c, gdbSNP:199721189
883+dbSNP:
883+c, tdbSNP:201022443
906+a, gdbSNP:376857797
909+a, gdbSNP:369023310
complement(914)-t, cdbSNP:4616051
914+a, gdbSNP:386594056
915+a, gdbSNP:199592568
925+a, gdbSNP:145919293
946+c, tdbSNP:202046943
950+c, tdbSNP:147825281
994+c, gdbSNP:74670179
1023+a, gdbSNP:369996939
1031+c, tdbSNP:373844704
1034+a, gdbSNP:12292621
1036+c, tdbSNP:150334070
1042+a, gdbSNP:137900666
1059+dbSNP:
1059+c, tdbSNP:200892689
1065+c, tdbSNP:148219105
1101+a, gdbSNP:370445877
1110+c, tdbSNP:200117133
1111+a, gdbSNP:1815811
1169+c, tdbSNP:374405393
1170+a, gdbSNP:138457857
1193+c, tdbSNP:368404870
1195+a, gdbSNP:190935754
1211+a, cdbSNP:200910356
1229+c, tdbSNP:117468615
1239+c, tdbSNP:146107413
1266+c, tdbSNP:148772501
1269+c, tdbSNP:141467859
1304+dbSNP:
1304+a, tdbSNP:202118737
1308+c, tdbSNP:200973740
1317+c, gdbSNP:371645247
1349+c, tdbSNP:185900750
1350+c, gdbSNP:376557556
1401+a, gdbSNP:368119222
1446+c, tdbSNP:45559545
1447+a, gdbSNP:139246619
1499+dbSNP:
1499+a, cdbSNP:375874584
1501+c, tdbSNP:200802769
1502+a, gdbSNP:149975232
1519+, cdbSNP:34656383
1522+c, tdbSNP:375627652
1533..1534+, gdbSNP:35520632
1552+c, gdbSNP:199499762
1553+a, gdbSNP:369849788
1587+a, cdbSNP:370193676
1766+c, tdbSNP:372088682
1791..1792+, ggggggdbSNP:151177849
1818+c, gdbSNP:182579309
1921+a, tdbSNP:139122671
complement(1936)-g, adbSNP:142585101
1960+a, gdbSNP:370200212
2088+a, tdbSNP:146020158
2097+c, tdbSNP:373131368
2214+a, gdbSNP:186846445
complement(2222)-g, adbSNP:139991173
2240+c, gdbSNP:111339084
Gene SymbolPDZD3
Gene SynonymIKEPP; NHERF4; PDZK2
Chromosome11
Locus Map11q23.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001168468 Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 1, mRNA. On-demand $699.00 18
NM_024791 Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 2, mRNA. On-demand $699.00 18
XM_005271678 PREDICTED: Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant X2, mRNA. On-demand $549.00 14
XM_006718914 PREDICTED: Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant X3, mRNA. On-demand $449.00 14
Title Interaction of the human prostacyclin receptor and the NHERF4 family member intestinal and kidney enriched PDZ protein (IKEPP) .
Author Reid HM, Turner EC, Mulvaney EP, Hyland PB, McLean C and Kinsella BT.
Journal Biochim. Biophys. Acta 1823 (10), 1998-2012 (2012)
Title Regulation of SLC26A3 activity by NHERF4 PDZ-mediated interaction .
Author Lee JH, Nam JH, Park J, Kang DW, Kim JY, Lee MG and Yoon JS.
Journal Cell. Signal. 24 (9), 1821-1830 (2012)
Title Elevated intracellular calcium stimulates NHE3 activity by an IKEPP (NHERF4) dependent mechanism .
Author Zachos NC, Hodson C, Kovbasnjuk O, Li X, Thelin WR, Cha B, Milgram
Journal Cell. Physiol. Biochem. 22 (5-6), 693-704 (2008)
Title PDZK1 directly regulates the function of organic cation/carnitine transporter OCTN2 .
Author Kato Y, Sai Y, Yoshida K, Watanabe C, Hirata T and Tsuji A.
Journal Mol. Pharmacol. 67 (3), 734-743 (2005)
Title C-terminal phosphorylation of MRP2 modulates its interaction with .
Author Hegedus T, Sessler T, Scott R, Thelin W, Bakos E, Varadi A, Szabo K, Homolya L, Milgram SL and Sarkadi B.
Journal Biochem. Biophys. Res. Commun. 302 (3), 454-461 (2003)
Title A novel PDZ protein regulates the activity of guanylyl cyclase C, the heat-stable enterotoxin receptor .
Author Scott RO, Thelin WR and Milgram SL.
Journal J. Biol. Chem. 277 (25), 22934-22941 (2002)

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