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Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 2, mRNA.


RefSeq Accession Definition Services Price Order
NM_052819 Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 2, mRNA. ORF Sequence $378.45
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_052819.2, 332801088
Length 1648 bp
Structure linear
Update Date 14-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 2, mRNA.
Product caspase recruitment domain-containing protein 14 isoform 2
Comment

Summary: This gene encodes a caspase recruitment domain-containing protein that is a member of the membrane-associated guanylate kinase (MAGUK) family of proteins. Members of this protein family are scaffold proteins that are involved in a diverse array of cellular processes including cellular adhesion, signal transduction and cell polarity control. This protein has been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012].


Transcript Variant: This variant (2) lacks several exons at the 5' and 3' ends and its transcription extends past a splice site that is used in variant 1. The encoded isoform 2 has a shorter N-terminus and a distinct C-terminus, compared to isoform 1.


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.


##Evidence-Data-START## Transcript exon combination :: BC001326.1 [ECO:0000332] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

RefSeq NP_438170.1
CDS 161..1465
Misc Feature(1)98..100
Misc Feature(2)98..100
Misc Feature(3)<482..676
Misc Feature(4)<482..676
Misc Feature(5)1196..>1303
Exon (1)1..124
Gene:CARD14
Gene Synonym:BIMP2; CARMA2; PRP; PSORS2; PSS1
Exon (2)125..292
Gene:CARD14
Gene Synonym:BIMP2; CARMA2; PRP; PSORS2; PSS1
Exon (3)293..412
Gene:CARD14
Gene Synonym:BIMP2; CARMA2; PRP; PSORS2; PSS1
Exon (4)413..538
Gene:CARD14
Gene Synonym:BIMP2; CARMA2; PRP; PSORS2; PSS1
Exon (5)539..688
Gene:CARD14
Gene Synonym:BIMP2; CARMA2; PRP; PSORS2; PSS1
Exon (6)689..805
Gene:CARD14
Gene Synonym:BIMP2; CARMA2; PRP; PSORS2; PSS1
Exon (7)806..948
Gene:CARD14
Gene Synonym:BIMP2; CARMA2; PRP; PSORS2; PSS1
Exon (8)949..1043
Gene:CARD14
Gene Synonym:BIMP2; CARMA2; PRP; PSORS2; PSS1
Exon (9)1044..1107
Gene:CARD14
Gene Synonym:BIMP2; CARMA2; PRP; PSORS2; PSS1
Exon (10)1108..1633
Gene:CARD14
Gene Synonym:BIMP2; CARMA2; PRP; PSORS2; PSS1
Translation MVSSCELELQEQSLRTASDQESGDEELNRLKEENEKLRSLTFSLAEKDILEQSLDEARGS RQELVERIHSLRERAVAAERQREQYWEEKEQTLLQFQKSKMACQLYREKVNALQAQVCEL QKERDQAYSARDSAQREISQSLVEKDSLRRQVFELTDQVCELRTQLRQLQAEPPGVLKQE ARTREPCPREKQRLVRMHAICPRDDSDCSLVSSTESQLLSDLSATSSRELVDSFRSSSPA PPSQQSLYKRVAEDFGEEPWSFSSCLEIPEGDPGALPGAKAGDPHLDYELLDTADLPQLE SSLQPVSPGRLDVSESGVLMRRRPARRILSQVTMLAFQGDALLEQISVIGGNLTGIFIHR VTPGSAADQMALRPGTQIVMVSRARPLLSPGLLMGTVAAGGVTQADFTSPRRCRSTLGWA SALSWADVKRSAHL
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Position Chain Variation Link
109+a, gdbSNP:188508718
116+a, gdbSNP:3813064
132+dbSNP:
132+g, tdbSNP:142246283
143+a, gdbSNP:200837077
158+a, cdbSNP:114218658
169+c, tdbSNP:140720686
197+a, tdbSNP:150138223
215+a, gdbSNP:144570537
245+c, tdbSNP:138616955
273+a, gdbSNP:117360605
276+a, cdbSNP:149318654
277+a, gdbSNP:150424747
302+dbSNP:
302+c, gdbSNP:145367674
303+a, gdbSNP:281875219
330+c, tdbSNP:139466192
380+a, cdbSNP:145167842
405+a, gdbSNP:138991161
409+a, gdbSNP:144207494
461+dbSNP:
461+a, gdbSNP:200132496
514+c, tdbSNP:140246774
515+a, gdbSNP:145206790
521+c, tdbSNP:202149094
526+a, gdbSNP:147977852
540+dbSNP:
540+c, tdbSNP:141698692
583+c, gdbSNP:150536049
619+c, tdbSNP:74951924
627+c, tdbSNP:149287760
637+c, gdbSNP:147432650
640+c, tdbSNP:201501775
641+c, gdbSNP:139740020
647+c, tdbSNP:144636413
648+a, gdbSNP:147466598
713+dbSNP:
713+a, gdbSNP:61751629
725+c, tdbSNP:201308755
726+a, gdbSNP:199537188
737+c, tdbSNP:142895605
772+c, tdbSNP:11658460
801+c, tdbSNP:199571417
807+dbSNP:
807+c, gdbSNP:199793195
811+a, gdbSNP:200592374
814+c, tdbSNP:141045409
820+a, gdbSNP:62074378
835+a, gdbSNP:146882682
845+a, gdbSNP:140734867
863+c, tdbSNP:145876317
871+c, tdbSNP:137954126
920+a, gdbSNP:149030007
925+c, tdbSNP:144710573
955+dbSNP:
955+c, tdbSNP:200960057
966+c, tdbSNP:61751630
967+a, gdbSNP:111586978
983+c, gdbSNP:200536688
991+a, gdbSNP:61751631
1039+a, gdbSNP:138100360
1042+a, gdbSNP:143761306
1052+dbSNP:
1052+c, tdbSNP:202166921
1084+a, tdbSNP:201185269
1090+c, gdbSNP:2066964
1101+c, tdbSNP:201449588
1108+dbSNP:
1108+c, tdbSNP:139274935
1110+c, gdbSNP:199869324
1111+c, tdbSNP:149971215
1154+a, gdbSNP:199643115
1168+a, gdbSNP:144296948
1188+c, tdbSNP:201897872
1202+a, gdbSNP:34367357
1207+c, tdbSNP:143677083
1208+a, gdbSNP:146855402
1210+c, tdbSNP:200610907
1221+c, tdbSNP:200102454
1222+a, gdbSNP:140661251
1227+a, tdbSNP:281875220
1235+c, tdbSNP:144549093
1238+c, tdbSNP:73429414
1239+a, gdbSNP:201920372
1254+c, tdbSNP:201285077
1255+a, gdbSNP:113127952
1256+a, gdbSNP:150081068
1276+a, gdbSNP:200102317
1299+c, tdbSNP:145521869
1310+a, gdbSNP:141266944
1316+c, tdbSNP:146951890
1357+a, gdbSNP:201797957
1387+c, tdbSNP:201289274
1394+c, tdbSNP:200379060
1395+a, gdbSNP:138158068
1414+c, tdbSNP:73429416
1455+c, gdbSNP:143190446
1474+c, tdbSNP:56067448
1479+c, gdbSNP:201939938
1480+a, gdbSNP:112426199
1502+c, tdbSNP:200433649
1503+a, gdbSNP:201661624
1510+g, tdbSNP:144885499
1559+a, gdbSNP:140818498
Gene SymbolCARD14
Gene SynonymBIMP2; CARMA2; PRP; PSORS2; PSS1
Chromosome17
Locus Map17q25
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001257970 Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 3, mRNA. Full Length $757.48
ORF Sequence $644.67
NM_024110 Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA. Full Length $1465.10
ORF Sequence $1055.25
NM_052819 Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 2, mRNA. Full Length $477.92
ORF Sequence $378.45
Title Familial pityriasis rubra pilaris is caused by mutations in CARD14 .
Author Fuchs-Telem,D., Sarig,O., van Steensel,M.A., Isakov,O., Israeli,S., Nousbeck,J., Richard,K., Winnepenninckx,V., Vernooij,M., Shomron,N., Uitto,J., Fleckman,P., Richard,G. and Sprecher,E.
Journal Am. J. Hum. Genet. 91 (1), 163-170 (2012)
Title Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis .
Author Jordan,C.T., Cao,L., Roberson,E.D., Duan,S., Helms,C.A., Nair,R.P., Duffin,K.C., Stuart,P.E., Goldgar,D., Hayashi,G., Olfson,E.H., Feng,B.J., Pullinger,C.R., Kane,J.P., Wise,C.A., Goldbach-Mansky,R., Lowes,M.A., Peddle,L., Chandran,V., Liao,W., Rahman,P., Krueger,G.G., Gladman,D., Elder,J.T., Menter,A. and Bowcock,A.M.
Journal Am. J. Hum. Genet. 90 (5), 796-808 (2012)
Title PSORS2 is due to mutations in CARD14 .
Author Jordan,C.T., Cao,L., Roberson,E.D., Pierson,K.C., Yang,C.F., Joyce,C.E., Ryan,C., Duan,S., Helms,C.A., Liu,Y., Chen,Y., McBride,A.A., Hwu,W.L., Wu,J.Y., Chen,Y.T., Menter,A., Goldbach-Mansky,R., Lowes,M.A. and Bowcock,A.M.
Journal Am. J. Hum. Genet. 90 (5), 784-795 (2012)
Title Alternative splicing of CARMA2/CARD14 transcripts generates protein variants with differential effect on NF-kappaB activation and endoplasmic reticulum stress-induced cell death .
Author Scudiero,I., Zotti,T., Ferravante,A., Vessichelli,M., Vito,P. and Stilo,R.
Journal J. Cell. Physiol. 226 (12), 3121-3131 (2011)
Title Card10 is a novel caspase recruitment domain/membrane-associated guanylate kinase family member that interacts with BCL10 and activates NF-kappa B .
Author Wang,L., Guo,Y., Huang,W.J., Ke,X., Poyet,J.L., Manji,G.A., Merriam,S., Glucksmann,M.A., DiStefano,P.S., Alnemri,E.S. and Bertin,J.
Journal J. Biol. Chem. 276 (24), 21405-21409 (2001)
Title Carma1, a CARD-containing binding partner of Bcl10, induces Bcl10 phosphorylation and NF-kappaB activation .
Author Gaide,O., Martinon,F., Micheau,O., Bonnet,D., Thome,M. and Tschopp,J.
Journal FEBS Lett. 496 (2-3), 121-127 (2001)
Title CARD11 and CARD14 are novel caspase recruitment domain (CARD)/membrane-associated guanylate kinase (MAGUK) family members that interact with BCL10 and activate NF-kappa B .
Author Bertin,J., Wang,L., Guo,Y., Jacobson,M.D., Poyet,J.L., Srinivasula,S.M., Merriam,S., DiStefano,P.S. and Alnemri,E.S.
Journal J. Biol. Chem. 276 (15), 11877-11882 (2001)

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