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2024-04-20 21:48:09, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_052819 1648 bp mRNA linear PRI 08-JUL-2013
DEFINITION Homo sapiens caspase recruitment domain family, member 14 (CARD14),
transcript variant 2, mRNA.
ACCESSION NM_052819
VERSION NM_052819.2 GI:332801088
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 1648)
AUTHORS Dereure,O.
TITLE [Molecular identification of the PSORS2 locus: mutations and
polymorphisms in CARD14 gene]
JOURNAL Ann Dermatol Venereol 140 (1), 65-66 (2013)
PUBMED 23328365
REMARK GeneRIF: Pityriasis rubra pilaris autosomal dominant family is an
allelic disease to certain genetic forms of familial psoriasis.
REFERENCE 2 (bases 1 to 1648)
AUTHORS 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.
TITLE Familial pityriasis rubra pilaris is caused by mutations in CARD14
JOURNAL Am. J. Hum. Genet. 91 (1), 163-170 (2012)
PUBMED 22703878
REMARK GeneRIF: we identified three different heterozygous mutations in
CARD14 causing familial pityriasis rubra pilaris.
REFERENCE 3 (bases 1 to 1648)
AUTHORS 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.
TITLE Rare and common variants in CARD14, encoding an epidermal regulator
of NF-kappaB, in psoriasis
JOURNAL Am. J. Hum. Genet. 90 (5), 796-808 (2012)
PUBMED 22521419
REMARK GeneRIF: A range of NF-kB responses in the skin are mediated by
CARD14 and that a subset of rare CARD14 variants leads to psoriasis
and psoriatic arthritis.
REFERENCE 4 (bases 1 to 1648)
AUTHORS 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.
TITLE PSORS2 is due to mutations in CARD14
JOURNAL Am. J. Hum. Genet. 90 (5), 784-795 (2012)
PUBMED 22521418
REMARK GeneRIF: Here, rare, highly penetrant mutations in CARD14 have been
shown to cause psoriasis.
REFERENCE 5 (bases 1 to 1648)
AUTHORS Scudiero,I., Zotti,T., Ferravante,A., Vessichelli,M., Vito,P. and
Stilo,R.
TITLE Alternative splicing of CARMA2/CARD14 transcripts generates protein
variants with differential effect on NF-kappaB activation and
endoplasmic reticulum stress-induced cell death
JOURNAL J. Cell. Physiol. 226 (12), 3121-3131 (2011)
PUBMED 21302310
REMARK GeneRIF: Results demonstrate that multiple transcripts encoding
several CARMA2 isoforms exist in vivo and regulate NF-kappaB
activation and apoptosis.
REFERENCE 6 (bases 1 to 1648)
AUTHORS 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.
TITLE Card10 is a novel caspase recruitment domain/membrane-associated
guanylate kinase family member that interacts with BCL10 and
activates NF-kappa B
JOURNAL J. Biol. Chem. 276 (24), 21405-21409 (2001)
PUBMED 11259443
REFERENCE 7 (bases 1 to 1648)
AUTHORS Gaide,O., Martinon,F., Micheau,O., Bonnet,D., Thome,M. and
Tschopp,J.
TITLE Carma1, a CARD-containing binding partner of Bcl10, induces Bcl10
phosphorylation and NF-kappaB activation
JOURNAL FEBS Lett. 496 (2-3), 121-127 (2001)
PUBMED 11356195
REFERENCE 8 (bases 1 to 1648)
AUTHORS Bertin,J., Wang,L., Guo,Y., Jacobson,M.D., Poyet,J.L.,
Srinivasula,S.M., Merriam,S., DiStefano,P.S. and Alnemri,E.S.
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
JOURNAL J. Biol. Chem. 276 (15), 11877-11882 (2001)
PUBMED 11278692
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BC001326.1 and AC087741.18.
On May 13, 2011 this sequence version replaced gi:16507954.
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.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-1539 BC001326.1 1-1539
1540-1540 AC087741.18 11342-11342 c
1541-1648 BC001326.1 1541-1648
FEATURES Location/Qualifiers
source 1..1648
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="17"
/map="17q25"
gene 1..1648
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/note="caspase recruitment domain family, member 14"
/db_xref="GeneID:79092"
/db_xref="HGNC:16446"
/db_xref="HPRD:06235"
/db_xref="MIM:607211"
exon 1..124
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/inference="alignment:Splign:1.39.8"
misc_feature 98..100
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/note="upstream in-frame stop codon"
variation 109
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:188508718"
variation 116
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:3813064"
variation 117
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374433439"
exon 125..292
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/inference="alignment:Splign:1.39.8"
variation 130
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="g"
/replace="t"
/db_xref="dbSNP:369755459"
variation 132
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="g"
/replace="t"
/db_xref="dbSNP:142246283"
variation 143
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200837077"
variation 158
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="c"
/db_xref="dbSNP:114218658"
CDS 161..1465
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/note="isoform 2 is encoded by transcript variant 2;
bcl10-interacting maguk protein 2; card-maguk protein 2;
caspase recruitment domain-containing protein 14; carma 2;
CARD-containing MAGUK protein 2"
/codon_start=1
/product="caspase recruitment domain-containing protein 14
isoform 2"
/protein_id="NP_438170.1"
/db_xref="GI:16507955"
/db_xref="GeneID:79092"
/db_xref="HGNC:16446"
/db_xref="HPRD:06235"
/db_xref="MIM:607211"
/translation="
MVSSCELELQEQSLRTASDQESGDEELNRLKEENEKLRSLTFSLAEKDILEQSLDEARGSRQELVERIHSLRERAVAAERQREQYWEEKEQTLLQFQKSKMACQLYREKVNALQAQVCELQKERDQAYSARDSAQREISQSLVEKDSLRRQVFELTDQVCELRTQLRQLQAEPPGVLKQEARTREPCPREKQRLVRMHAICPRDDSDCSLVSSTESQLLSDLSATSSRELVDSFRSSSPAPPSQQSLYKRVAEDFGEEPWSFSSCLEIPEGDPGALPGAKAGDPHLDYELLDTADLPQLESSLQPVSPGRLDVSESGVLMRRRPARRILSQVTMLAFQGDALLEQISVIGGNLTGIFIHRVTPGSAADQMALRPGTQIVMVSRARPLLSPGLLMGTVAAGGVTQADFTSPRRCRSTLGWASALSWADVKRSAHL
"
misc_feature <482..676
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/note="Seryl-tRNA synthetase N-terminal domain; Region:
Seryl_tRNA_N; pfam02403"
/db_xref="CDD:202232"
misc_feature 1196..>1303
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/note="PDZ domain found in a variety of Eumetazoan
signaling molecules, often in tandem arrangements. May be
responsible for specific protein-protein interactions, as
most PDZ domains bind C-terminal polypeptides, and binding
to internal (non-C-terminal)...; Region: PDZ_signaling;
cd00992"
/db_xref="CDD:29049"
variation 169
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:140720686"
variation 197
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="t"
/db_xref="dbSNP:150138223"
variation 215
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:144570537"
variation 245
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:138616955"
variation 273
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:117360605"
variation 276
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="c"
/db_xref="dbSNP:149318654"
variation 277
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:150424747"
exon 293..412
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/inference="alignment:Splign:1.39.8"
variation 302
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="g"
/db_xref="dbSNP:145367674"
variation 303
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:281875219"
variation 313
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:371000277"
variation 319
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="c"
/db_xref="dbSNP:374349263"
variation 325
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:368286986"
variation 330
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:139466192"
variation 374
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="c"
/db_xref="dbSNP:371741250"
variation 380
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="c"
/db_xref="dbSNP:145167842"
variation 395
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374933789"
variation 404
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:367867373"
variation 405
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:138991161"
variation 409
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:144207494"
exon 413..538
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/inference="alignment:Splign:1.39.8"
variation 430
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374567999"
variation 461
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200132496"
variation 513
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:367635878"
variation 514
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:140246774"
variation 515
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145206790"
variation 521
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:202149094"
variation 526
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:147977852"
exon 539..688
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/inference="alignment:Splign:1.39.8"
variation 540
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:141698692"
variation 541
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373435882"
variation 548
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:375882704"
variation 583
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="g"
/db_xref="dbSNP:150536049"
variation 619
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:74951924"
variation 620
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:369150206"
variation 627
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:149287760"
variation 637
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="g"
/db_xref="dbSNP:147432650"
variation 640
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201501775"
variation 641
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="g"
/db_xref="dbSNP:139740020"
variation 647
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:144636413"
variation 648
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:147466598"
variation 676
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373415766"
exon 689..805
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/inference="alignment:Splign:1.39.8"
variation 713
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:61751629"
variation 725
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201308755"
variation 726
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199537188"
variation 737
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:142895605"
variation 772
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:11658460"
variation 801
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:199571417"
exon 806..948
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/inference="alignment:Splign:1.39.8"
variation 807
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="g"
/db_xref="dbSNP:199793195"
variation 811
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200592374"
variation 814
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:141045409"
variation 820
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:62074378"
variation 834
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:368239982"
variation 835
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:146882682"
variation 845
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:140734867"
variation 863
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145876317"
variation 864
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:377226624"
variation 871
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:137954126"
variation 877
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:368432283"
variation 896
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:374170794"
variation 917
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372805579"
variation 920
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:149030007"
variation 925
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:144710573"
variation 926
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374847486"
variation 948
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="g"
/db_xref="dbSNP:369200145"
exon 949..1043
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/inference="alignment:Splign:1.39.8"
variation 954
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:377069416"
variation 955
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200960057"
variation 966
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:61751630"
variation 967
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:111586978"
variation 979
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376285944"
variation 983
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="g"
/db_xref="dbSNP:200536688"
variation 991
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:61751631"
variation 1024
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369503344"
variation 1038
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:373004800"
variation 1039
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:138100360"
variation 1042
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:143761306"
exon 1044..1107
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/inference="alignment:Splign:1.39.8"
variation 1052
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:202166921"
variation 1084
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="t"
/db_xref="dbSNP:201185269"
variation 1090
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="g"
/db_xref="dbSNP:2066964"
variation 1101
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201449588"
variation 1102
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:369746581"
exon 1108..1633
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/inference="alignment:Splign:1.39.8"
variation 1108
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:139274935"
variation 1110
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="g"
/db_xref="dbSNP:199869324"
variation 1111
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:149971215"
variation 1121
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:373983740"
variation 1129
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:377602344"
variation 1149
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:370687430"
variation 1154
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199643115"
variation 1168
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:144296948"
variation 1177
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:375480599"
variation 1188
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201897872"
variation 1202
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:34367357"
variation 1207
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:143677083"
variation 1208
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:146855402"
variation 1210
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:200610907"
variation 1211
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372197132"
variation 1221
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200102454"
variation 1222
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:140661251"
variation 1227
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="t"
/db_xref="dbSNP:281875220"
variation 1235
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:144549093"
variation 1238
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:73429414"
variation 1239
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201920372"
variation 1254
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201285077"
variation 1255
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:113127952"
variation 1256
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:150081068"
variation 1261
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:367702181"
variation 1276
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200102317"
variation 1277
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371910172"
variation 1278
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372001018"
variation 1289
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:374763410"
variation 1294
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369089693"
variation 1299
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145521869"
variation 1300
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373961754"
variation 1309
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371686462"
variation 1310
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141266944"
variation 1316
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:146951890"
variation 1356
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:376538051"
variation 1357
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201797957"
variation 1387
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201289274"
variation 1390
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="g"
/db_xref="dbSNP:375085546"
variation 1394
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200379060"
variation 1395
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:138158068"
variation 1396
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373358452"
variation 1414
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:73429416"
variation 1455
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="g"
/db_xref="dbSNP:143190446"
variation 1470
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="g"
/db_xref="dbSNP:372890711"
variation 1474
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:56067448"
variation 1479
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="g"
/db_xref="dbSNP:201939938"
variation 1480
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:112426199"
variation 1502
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200433649"
variation 1503
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201661624"
variation 1505
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372014836"
variation 1510
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="g"
/replace="t"
/db_xref="dbSNP:144885499"
variation 1559
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
/replace="a"
/replace="g"
/db_xref="dbSNP:140818498"
polyA_site 1633
/gene="CARD14"
/gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
ORIGIN
gtccagaggaaggaggccagcaggacctggtgggatagtccctggaaggccagggccctgcacacagactgcaagtcaacacaggagctttgctgtctgaacagccccggtcccgcgttcccagctgtatctactgaagcaggagctgcagcgagccaacatggtttcctcctgtgagctggaattgcaagagcagtccctgaggacagccagcgaccaggagtccggggatgaggagctgaaccgcctgaaggaggagaatgagaaactgcgctcgctgactttcagcctggcggagaaggacattctggagcagagcctggacgaggcgcgggggagccgacaggagctggtggagcgcatccactcgctgcgggagcgggccgtggctgccgagaggcagcgagagcagtactgggaagagaaggaacagaccctgctgcagttccagaagagtaagatggcctgccaactctacagggagaaggtgaatgcgctgcaggcccaggtgtgcgagctgcagaaggagcgagaccaggcgtactccgcgagggacagtgctcagagggagatttcccagagcctggtggagaaggactccctccgcaggcaggtgttcgagctgacggaccaggtctgcgagctgcgcacacagcttcgccagctgcaggcagagcctccgggtgtgctcaagcaggaagccaggaccagggagccctgtccacgggagaagcagcggctggtgcggatgcatgccatctgccccagagacgacagcgactgcagcctcgtcagctccacagagtctcagctcttgtcggacctgagtgccacgtccagccgcgagctggtggacagcttccgctccagcagccccgcgccccccagccagcagtccctgtacaagcgggtggccgaggacttcggggaagaaccctggtctttcagcagctgcctggagatcccggagggagacccgggagccctgccgggagctaaggcaggcgacccacacctggattatgagctcctagacacggcagaccttccgcagctggaaagcagcctgcagccagtctcccctggaaggcttgatgtctcggagagcggcgtcctcatgcggcggaggccagcccgcaggatcctgagccaggtcaccatgctggcgttccagggggatgcattgctggagcagatcagcgtcatcggcgggaacctcacgggcatcttcatccaccgggtcaccccgggctcggcggcggaccagatggccttgcgcccgggcacccagattgtgatggtgagccgtgcgaggcccctcctgtcccccgggctcctcatggggacagtggcagcgggtggggtgacccaggcagacttcacctcccccagacgatgcagatccactctgggctgggcctctgctctttcctgggctgacgtaaagcgttctgctcatttatagatgagagtcgtgccgtgcagaacccagcatgtcacccgtggtgctgctgccatgcggcgcttctgaccaggggtctttgcatgaggccccttgacagggctgctctgggtggtcactttgggtgtgtacagtaaaatacacgtgacataaaattcactattttaaccaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:79092 -> Molecular function: GO:0050700 [CARD domain binding] evidence: IPI
GeneID:79092 -> Biological process: GO:0001934 [positive regulation of protein phosphorylation] evidence: IDA
GeneID:79092 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:79092 -> Biological process: GO:0007250 [activation of NF-kappaB-inducing kinase activity] evidence: NAS
GeneID:79092 -> Biological process: GO:0033209 [tumor necrosis factor-mediated signaling pathway] evidence: IMP
GeneID:79092 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: IMP
GeneID:79092 -> Biological process: GO:0051092 [positive regulation of NF-kappaB transcription factor activity] evidence: IMP
GeneID:79092 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
GeneID:79092 -> Cellular component: GO:0005886 [plasma membrane] evidence: NAS
GeneID:79092 -> Cellular component: GO:0016235 [aggresome] evidence: IDA
by
@meso_cacase at
DBCLS
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