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2024-04-20 07:24:10, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_032983 4024 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens caspase 2, apoptosis-related cysteine peptidase
(CASP2), transcript variant 3, mRNA.
ACCESSION NM_032983 NM_032984
VERSION NM_032983.3 GI:320461587
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 4024)
AUTHORS Upton,J.P., Wang,L., Han,D., Wang,E.S., Huskey,N.E., Lim,L.,
Truitt,M., McManus,M.T., Ruggero,D., Goga,A., Papa,F.R. and
Oakes,S.A.
TITLE IRE1alpha cleaves select microRNAs during ER stress to derepress
translation of proapoptotic Caspase-2
JOURNAL Science 338 (6108), 818-822 (2012)
PUBMED 23042294
REMARK GeneRIF: IRE1alpha regulates translation of a proapoptotic protein,
Caspase-2, through terminating microRNA biogenesis, and noncoding
RNAs are part of the ER stress response
REFERENCE 2 (bases 1 to 4024)
AUTHORS Bouchier-Hayes,L.
TITLE The role of caspase-2 in stress-induced apoptosis
JOURNAL J. Cell. Mol. Med. 14 (6A), 1212-1224 (2010)
PUBMED 20158568
REMARK GeneRIF: This review discusses recent advances that have been made
to help elucidate the true role of caspase 2 and the potential
contribution of caspase-2 to the pathology of human diseases
including cancer.
Review article
REFERENCE 3 (bases 1 to 4024)
AUTHORS Majumder,P., Raychaudhuri,S., Chattopadhyay,B. and
Bhattacharyya,N.P.
TITLE Increased caspase-2, calpain activations and decreased
mitochondrial complex II activity in cells expressing exogenous
huntingtin exon 1 containing CAG repeat in the pathogenic range
JOURNAL Cell. Mol. Neurobiol. 27 (8), 1127-1145 (2007)
PUBMED 17902043
REFERENCE 4 (bases 1 to 4024)
AUTHORS Narkilahti,S., Jutila,L., Alafuzoff,I., Karkola,K., Paljarvi,L.,
Immonen,A., Vapalahti,M., Mervaala,E., Kalviainen,R. and
Pitkanen,A.
TITLE Increased expression of caspase 2 in experimental and human
temporal lobe epilepsy
JOURNAL Neuromolecular Med. 9 (2), 129-144 (2007)
PUBMED 17627033
REMARK GeneRIF: Data suggest that caspase 2-mediated programmed cell death
participates in the seizure-induced degenerative process in
experimental and human TLE.
REFERENCE 5 (bases 1 to 4024)
AUTHORS Martinet,W., Knaapen,M.W., De Meyer,G.R., Herman,A.G. and
Kockx,M.M.
TITLE Overexpression of the anti-apoptotic caspase-2 short isoform in
macrophage-derived foam cells of human atherosclerotic plaques
JOURNAL Am. J. Pathol. 162 (3), 731-736 (2003)
PUBMED 12598307
REMARK GeneRIF: The short isoform is overexpressed in macrophage-derived
foam cells of human atherosclerotic plaques
REFERENCE 6 (bases 1 to 4024)
AUTHORS Logette,E., Wotawa,A., Solier,S., Desoche,L., Solary,E. and
Corcos,L.
TITLE The human caspase-2 gene: alternative promoters, pre-mRNA splicing
and AUG usage direct isoform-specific expression
JOURNAL Oncogene 22 (6), 935-946 (2003)
PUBMED 12584573
REMARK GeneRIF: caspase-2 gene: alternative promoters, pre-mRNA splicing
and AUG usage direct isoform-specific expression
REFERENCE 7 (bases 1 to 4024)
AUTHORS Droin,N., Beauchemin,M., Solary,E. and Bertrand,R.
TITLE Identification of a caspase-2 isoform that behaves as an endogenous
inhibitor of the caspase cascade
JOURNAL Cancer Res. 60 (24), 7039-7047 (2000)
PUBMED 11156409
REFERENCE 8 (bases 1 to 4024)
AUTHORS Shimohama,S., Tanino,H. and Fujimoto,S.
TITLE Changes in caspase expression in Alzheimer's disease: comparison
with development and aging
JOURNAL Biochem. Biophys. Res. Commun. 256 (2), 381-384 (1999)
PUBMED 10079193
REFERENCE 9 (bases 1 to 4024)
AUTHORS Kumar,S., White,D.L., Takai,S., Turczynowicz,S., Juttner,C.A. and
Hughes,T.P.
TITLE Apoptosis regulatory gene NEDD2 maps to human chromosome segment
7q34-35, a region frequently affected in haematological neoplasms
JOURNAL Hum. Genet. 95 (6), 641-644 (1995)
PUBMED 7789948
REFERENCE 10 (bases 1 to 4024)
AUTHORS Wang,L., Miura,M., Bergeron,L., Zhu,H. and Yuan,J.
TITLE Ich-1, an Ice/ced-3-related gene, encodes both positive and
negative regulators of programmed cell death
JOURNAL Cell 78 (5), 739-750 (1994)
PUBMED 8087842
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DA505883.1, DB455840.1,
AF314174.1, BC002427.2, AC073342.3 and BQ447606.1.
On Jan 29, 2011 this sequence version replaced gi:39995060.
Summary: This gene encodes a member of the cysteine-aspartic acid
protease (caspase) family. Caspases mediate cellular apoptosis
through the proteolytic cleavage of specific protein substrates.
The encoded protein may function in stress-induced cell death
pathways, cell cycle maintenance, and the suppression of
tumorigenesis. Increased expression of this gene may play a role in
neurodegenerative disorders including Alzheimer's disease,
Huntington's disease and temporal lobe epilepsy. Alternatively
spliced transcript variants encoding multiple isoforms have been
observed for this gene. [provided by RefSeq, Jan 2011].
Transcript Variant: This variant (3) lacks an exon and uses an
alternate splice site in the coding region, which results in a
frameshift and early stop codon, compared to variant 1. The encoded
isoform (3) is shorter and has 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.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AF314174.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025084 [ECO:0000350]
##Evidence-Data-END##
##RefSeq-Attributes-START##
NMD candidate :: PMID: 11156409
##RefSeq-Attributes-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-35 DA505883.1 1-35
36-292 DB455840.1 1-257
293-828 AF314174.1 1-536
829-2549 BC002427.2 819-2539
2550-3373 AC073342.3 122921-123744
3374-4024 BQ447606.1 1-651 c
FEATURES Location/Qualifiers
source 1..4024
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="7"
/map="7q34-q35"
gene 1..4024
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/note="caspase 2, apoptosis-related cysteine peptidase"
/db_xref="GeneID:835"
/db_xref="HGNC:1503"
/db_xref="HPRD:02800"
/db_xref="MIM:600639"
exon 1..315
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/inference="alignment:Splign:1.39.8"
variation 12
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="g"
/db_xref="dbSNP:186744526"
variation 126
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="c"
/db_xref="dbSNP:113268906"
variation 148
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="c"
/db_xref="dbSNP:144511554"
misc_feature 155..157
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/note="upstream in-frame stop codon"
variation 158
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="g"
/db_xref="dbSNP:11981631"
variation 188
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:112207701"
variation 201
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:371891055"
variation 217
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:374157123"
variation 220
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="g"
/replace="t"
/db_xref="dbSNP:368033765"
variation 227
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:376047462"
variation 228
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:367660182"
variation 236
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="c"
/db_xref="dbSNP:199504713"
CDS 242..568
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/EC_number="3.4.22.55"
/note="isoform 3 is encoded by transcript variant 3;
protease ICH-1; neural precursor cell expressed
developmentally down-regulated protein 2; protein
phosphatase 1, regulatory subunit 57"
/codon_start=1
/product="caspase-2 isoform 3"
/protein_id="NP_116765.2"
/db_xref="GI:39995061"
/db_xref="CCDS:CCDS47733.1"
/db_xref="GeneID:835"
/db_xref="HGNC:1503"
/db_xref="HPRD:02800"
/db_xref="MIM:600639"
/translation="
MAAPSAGSWSTFQHKELMAADRGRRILGVCGMHPHHQETLKKNRVVLAKQLLLSELLEHLLEKDIITLEMRELIQAKVGSFSQNVELLNLLPKRGPQAFDAFCEALHS
"
misc_feature 335..565
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/note="The Death Domain Superfamily of protein-protein
interaction domains; Region: DD_superfamily; cl14633"
/db_xref="CDD:209876"
variation 261
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:200275372"
variation 262
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:143572840"
variation 296
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:145693200"
variation 310
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:148934764"
variation 312
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:368981317"
exon 316..466
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/inference="alignment:Splign:1.39.8"
variation 318
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:143160365"
variation 328
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:192384558"
variation 376
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:61732978"
variation 390
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:374173198"
variation 403
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="g"
/db_xref="dbSNP:370888284"
variation 404
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:200501629"
variation 409
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:4647288"
variation 422
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:368191317"
exon 467..548
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/inference="alignment:Splign:1.39.8"
exon 549..593
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/inference="alignment:Splign:1.39.8"
variation 554
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="g"
/replace="t"
/db_xref="dbSNP:200880743"
variation 555
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="g"
/db_xref="dbSNP:4647298"
exon 594..770
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/inference="alignment:Splign:1.39.8"
variation 613
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:373353027"
variation 713
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:186256855"
STS 714..915
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/standard_name="Casp2"
/db_xref="UniSTS:259199"
variation 726
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:146134510"
variation 740
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:371326834"
variation 741
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:141615673"
exon 771..899
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/inference="alignment:Splign:1.39.8"
variation 785
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:143669356"
variation 816
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="g"
/db_xref="dbSNP:150852779"
variation 817
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:139233385"
variation 824
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:114290247"
variation 836
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:200779188"
variation 837
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:370097426"
variation 851
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:373653048"
variation 866
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:367713957"
exon 900..990
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/inference="alignment:Splign:1.39.8"
variation 934
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:200353443"
variation 935
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:374230679"
variation 958
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:377218240"
variation 985
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:368449253"
exon 991..1140
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/inference="alignment:Splign:1.39.8"
variation 1002
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:369175154"
variation 1013
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="g"
/db_xref="dbSNP:145619760"
variation 1067
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:372837731"
variation 1068
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:141466335"
variation 1084
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:145217184"
variation 1089
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="c"
/db_xref="dbSNP:75941380"
variation 1121
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:147605073"
variation 1132
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="g"
/replace="t"
/db_xref="dbSNP:11551881"
exon 1141..1250
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/inference="alignment:Splign:1.39.8"
STS 1158..1276
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/standard_name="WI-9353"
/db_xref="UniSTS:2543"
variation 1184
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:142190608"
variation 1185
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:188499115"
variation 1213
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:369524386"
variation 1225
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:201856807"
variation 1231
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="t"
/db_xref="dbSNP:376253426"
exon 1251..4007
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/inference="alignment:Splign:1.39.8"
variation 1256
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:200701125"
STS 1257..1524
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/standard_name="WI-19013"
/db_xref="UniSTS:47275"
variation 1259
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="c"
/db_xref="dbSNP:143054447"
variation 1320
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="g"
/replace="t"
/db_xref="dbSNP:3212151"
variation 1344
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:4647338"
variation 1366
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:373916487"
STS 1386..1501
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/standard_name="CASP2"
/db_xref="UniSTS:479808"
variation 1388
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:368127872"
variation 1389
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:4647339"
variation 1418
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="c"
/db_xref="dbSNP:3212152"
variation 1464
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:137974186"
variation 1482
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:71528907"
variation 1700
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:4647340"
variation 1746
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="g"
/replace="t"
/db_xref="dbSNP:186746216"
variation 1906
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:191347184"
variation 1984
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:183528359"
variation 2081
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:142900816"
variation 2208
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:4647341"
variation 2215
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:147422589"
variation 2241
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:139897181"
variation 2427
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="g"
/replace="t"
/db_xref="dbSNP:188559339"
variation 2459
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:373020827"
variation 2495
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="g"
/replace="t"
/db_xref="dbSNP:143815758"
variation 2515
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="t"
/db_xref="dbSNP:150650825"
variation 2528
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:145289077"
variation 2550
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="t"
/db_xref="dbSNP:4647342"
variation 2560..2561
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace=""
/replace="t"
/db_xref="dbSNP:11386631"
variation 2586
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace=""
/replace="ttttg"
/db_xref="dbSNP:78324220"
variation 2588
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="g"
/db_xref="dbSNP:111922510"
variation 2620
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="g"
/replace="t"
/db_xref="dbSNP:1141773"
variation 2655
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="c"
/db_xref="dbSNP:1141774"
variation 2660
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:139766832"
STS 2663..2766
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/standard_name="D8S2278"
/db_xref="UniSTS:473906"
STS 2671..2761
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/standard_name="D8S2279"
/db_xref="UniSTS:473907"
variation 2671
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="c"
/db_xref="dbSNP:1141775"
variation 2679
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:1141776"
variation 2693
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="c"
/db_xref="dbSNP:370922614"
variation 2700
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:3200104"
variation 2751
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="g"
/replace="t"
/db_xref="dbSNP:373957104"
variation 2786
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="g"
/replace="t"
/db_xref="dbSNP:13222071"
variation 2836
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="g"
/db_xref="dbSNP:181124609"
variation 2872
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="c"
/db_xref="dbSNP:62471034"
variation 2881
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="t"
/db_xref="dbSNP:71528908"
variation 2891
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace=""
/replace="aaa"
/db_xref="dbSNP:71875187"
variation 2895..2899
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace=""
/replace="aaaaa"
/db_xref="dbSNP:77667787"
variation 2902
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="t"
/db_xref="dbSNP:62471035"
variation 2931
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:375751578"
variation 2933
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:371026231"
variation 2939
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:71528909"
variation 2982
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:149837738"
variation 2985
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="g"
/replace="t"
/db_xref="dbSNP:28436039"
variation 3017
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:71528910"
variation 3079
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:185340596"
variation 3139
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="c"
/db_xref="dbSNP:190238617"
variation 3230
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="g"
/db_xref="dbSNP:144788313"
variation 3264
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:373568549"
variation 3273
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:139657780"
variation 3274
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:144528534"
variation 3291
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="g"
/replace="t"
/db_xref="dbSNP:182236290"
variation 3293
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="g"
/replace="t"
/db_xref="dbSNP:146629101"
variation 3535
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="c"
/db_xref="dbSNP:77951251"
variation 3571
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:140252650"
variation 3588
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:142505490"
variation 3597
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="g"
/replace="t"
/db_xref="dbSNP:186396120"
variation 3599
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="c"
/db_xref="dbSNP:371214726"
variation 3628
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:79479809"
variation 3699..3700
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace=""
/replace="a"
/db_xref="dbSNP:35408368"
STS 3729..3798
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/standard_name="NEDD2"
/db_xref="UniSTS:75169"
variation 3731
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="g"
/replace="t"
/db_xref="dbSNP:150969153"
variation 3734
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:190887805"
variation 3735
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="t"
/db_xref="dbSNP:62471036"
variation 3805
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:180944601"
variation 3823
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="c"
/replace="g"
/db_xref="dbSNP:150204326"
variation 3972
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="t"
/db_xref="dbSNP:367897153"
variation 3975
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="g"
/db_xref="dbSNP:185114711"
polyA_signal 3983..3988
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
variation 3983
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
/replace="a"
/replace="c"
/db_xref="dbSNP:202090018"
polyA_site 4007
/gene="CASP2"
/gene_synonym="CASP-2; ICH1; NEDD-2; NEDD2; PPP1R57"
ORIGIN
cttttgtctgtccgccgagcaccccacttcaccccattggaccgcgcggccgccgctagagctctgcgcctgcgcacgcaccgggccggggactgggtggcctggtgtgtgggcgcggcagggcgcaggcgcaggcgcagtgtgcgtccgcgtctgaggggagggatgtgggggaagcgacggcccccggtttgtttgggctgtgggcggtgcgcagcggagagcccgggaaaagcgggaaatggcggcgccgagcgcggggtcttggtccaccttccagcacaaggagctgatggccgctgacaggggacgcaggatattgggagtgtgtggcatgcatcctcatcatcaggaaactctaaaaaagaaccgagtggtgctagccaaacagctgttgttgagcgaattgttagaacatcttctggagaaggacatcatcaccttggaaatgagggagctcatccaggccaaagtgggcagtttcagccagaatgtggaactcctcaacttgctgcctaagaggggtccccaagcttttgatgccttctgtgaagccttgcactcctgaattttatcaaacacacttccagctggcatataggttgcagtctcggcctcgtggcctagcactggtgttgagcaatgtgcacttcactggagagaaagaactggaatttcgctctggaggggatgtggaccacagtactctagtcaccctcttcaagcttttgggctatgacgtccatgttctatgtgaccagactgcacaggaaatgcaagagaaactgcagaattttgcacagttacctgcacaccgagtcacggactcctgcatcgtggcactcctctcgcatggtgtggagggcgccatctatggtgtggatgggaaactgctccagctccaagaggtttttcagctctttgacaacgccaactgcccaagcctacagaacaaaccaaaaatgttcttcatccaggcctgccgtggagatgagactgatcgtggggttgaccaacaagatggaaagaaccacgcaggatcccctgggtgcgaggagagtgatgccggtaaagaaaagttgccgaagatgagactgcccacgcgctcagacatgatatgcggctatgcctgcctcaaagggactgccgccatgcggaacaccaaacgaggttcctggtacatcgaggctcttgctcaagtgttttctgagcgggcttgtgatatgcacgtggccgacatgctggttaaggtgaacgcacttatcaaggatcgggaaggttatgctcctggcacagaattccaccggtgcaaggagatgtctgaatactgcagcactctgtgccgccacctctacctgttcccaggacaccctcccacatgatgtcacctccccatcatccacgccaagtggaagccactggaccacaggaggtgtgatagagcctttgatcttcaggatgcacggtttctgttctgccccctcagggatgtgggaatctcccagacttgtttcctgtgcccatcatctctgcctttgagtgtgggactccaggccagctccttttctgtgaagccctttgcctgtagagccagccttggttggacctattgccaggaatgtttcagctgcagttgaagagcctgacaagtgaagttgtaaacacagtgtggttatggggagagggcatataaattccccatatttgtgttcagttccagcttttgtagatggcactttagtgattgcttttattacattagttaagatgtctgagagaccatctcctatcttttatttcattcatatcctccgccctttttgtcctagagtgagagtttggaaggtgtccaaatttaatgtagacattatcttttggctctgaagaagcaaacatgactagagacgcaccttgctgcagtgtccagaagcggcctgtgcgttcccttcagtactgcagcgccacccagtggaaggacactcttggctcgtttgggctcaaggcaccgcagcctgtcagccaacattgccttgcatttgtaccttattgatctttgcccatggaagtctcaaagatctttcgttggttgtttctctgagctttgttactgaaatgagcctcgtggggagcatcagagaaggccaggaagaatggtgtgtttccctagactctgtaaccacctctctgtctttttccttcctgagaaacgtccatctctctcccttactattcccactttcattcaatcaacctgcacttcatatctagatttctagaaaagcttcctagcttatctccctgcttcatatctctcccttctttaccttcatttcatcctgttggctgctgccaccaaatctgtctagaatcctgctttacaggatcatgtaaatgctcaaagatgtaatgtagttctttgttcctgctttctctttcagtattaaactctcctttgatattatgtggcttttatttcagtgccatacatgttattgttttcaacctagaaacctttatccctgcttatctgaaacttcccaacttccctgttctttaagactttttttttttttttttttttttttgagacagagtctcgctctgtcgcccaggctggagggcagtggcacgatctcagctcactgcaagctccaactcccgggttcacgccattctcctgcctcagccttccaagtagctgggactacaggtgcccgccaccgtgcccggctaatttttttgtatttttagtagagacagggtttcaccatgttagccgggatggtcttgatctcctgacctcatgatccacccacctcagcctcccaaagtgttgggattacaggcgtgagccactgcgcccgggcaagacctttttttaaaaaaaaaaaaaaaaaaacttccattctttcttcctccagtctgttctcacataacagagtagttttggtttttaattttttttggttgtttgctgttttttgttttttaaggtgagttctcactatgtttctcagactggtctcgaactcctggcctcaagccatcttcccgcctcagcctctcaaatagctgggcttacaggcatgagccaccacacctggccaggatttggttgtttaaatataaatctgatcacccccctgcttagaacccttctgctttctattacccctcatttaaaatgtaaactcttcaccttggtttatgagaactggttcttgccttccccttgaacctcattaaatggtgatttcttgctaagctccagcccgagtggtctcctctcagcttctaattttgtgctctttcctgcccttttcctgggccttctcagctctccacccccaccactcttgactcaggtggtgtccttcttcctcaagtcttgacaattcccgggcccttcagtccctgagcagtctacttctgtgtctgtcaccacatcttgtcttttcccctcattgcatttattgcagtttatatatatgctacttttacttgttcatttctgtctcccctaccaggctgtaaatgagggcagaaaccttgtttgttttattcaccatcatgtaccaagtgcttggcacatagtgggccttcattaaatgtttgttgaataaaagagggaagaaggcaagccaaccttagctacaatcctaccttttgataaaatgttccttttgacaatatacacggattattatttgtactttgtttttccatgtgttttgcttttatccactggcatttttagctccttgaagacatatcatgtgtgagataacttccttcacatctcccatggtccctagcaaaatgctaggcctgtagtagtcaaggtgctcaataaatatttgtttgggtggtttgtgagccttgctgccaagtcctgcctttgggtcgacatagtatggaagtatttgagagagagaacctttccactcccactgccaggattttgtattgccatcgggtgccaaataaatgctcatatttattactgaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:835 -> Molecular function: GO:0004197 [cysteine-type endopeptidase activity] evidence: IDA
GeneID:835 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:835 -> Molecular function: GO:0019899 [enzyme binding] evidence: ISS
GeneID:835 -> Molecular function: GO:0019904 [protein domain specific binding] evidence: IPI
GeneID:835 -> Biological process: GO:0001554 [luteolysis] evidence: IEA
GeneID:835 -> Biological process: GO:0003407 [neural retina development] evidence: IEA
GeneID:835 -> Biological process: GO:0006508 [proteolysis] evidence: IEA
GeneID:835 -> Biological process: GO:0006915 [apoptotic process] evidence: NAS
GeneID:835 -> Biological process: GO:0006917 [induction of apoptosis] evidence: IEA
GeneID:835 -> Biological process: GO:0006977 [DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest] evidence: IMP
GeneID:835 -> Biological process: GO:0007420 [brain development] evidence: IEA
GeneID:835 -> Biological process: GO:0007568 [aging] evidence: IEA
GeneID:835 -> Biological process: GO:0016485 [protein processing] evidence: IDA
GeneID:835 -> Biological process: GO:0043065 [positive regulation of apoptotic process] evidence: IDA
GeneID:835 -> Biological process: GO:0043281 [regulation of cysteine-type endopeptidase activity involved in apoptotic process] evidence: TAS
GeneID:835 -> Biological process: GO:0043525 [positive regulation of neuron apoptotic process] evidence: IEA
GeneID:835 -> Biological process: GO:0048011 [neurotrophin TRK receptor signaling pathway] evidence: TAS
GeneID:835 -> Biological process: GO:0071260 [cellular response to mechanical stimulus] evidence: IEP
GeneID:835 -> Biological process: GO:0097190 [apoptotic signaling pathway] evidence: TAS
GeneID:835 -> Biological process: GO:0097194 [execution phase of apoptosis] evidence: TAS
GeneID:835 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
GeneID:835 -> Cellular component: GO:0005739 [mitochondrion] evidence: IEA
GeneID:835 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:835 -> Cellular component: GO:0016020 [membrane] evidence: IEA
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_116765 -> EC 3.4.22.55
by
@meso_cacase at
DBCLS
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