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2024-04-19 06:42:09, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_005256 2031 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 1,
mRNA.
ACCESSION NM_005256
VERSION NM_005256.3 GI:219842337
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 2031)
AUTHORS Murea,M., Lu,L., Ma,L., Hicks,P.J., Divers,J., McDonough,C.W.,
Langefeld,C.D., Bowden,D.W. and Freedman,B.I.
TITLE Genome-wide association scan for survival on dialysis in
African-Americans with type 2 diabetes
JOURNAL Am. J. Nephrol. 33 (6), 502-509 (2011)
PUBMED 21546767
REFERENCE 2 (bases 1 to 2031)
AUTHORS Huang,W., Zhou,W., Saberwal,G., Konieczna,I., Horvath,E.,
Katsoulidis,E., Platanias,L.C. and Eklund,E.A.
TITLE Interferon consensus sequence binding protein (ICSBP) decreases
beta-catenin activity in myeloid cells by repressing GAS2
transcription
JOURNAL Mol. Cell. Biol. 30 (19), 4575-4594 (2010)
PUBMED 20679491
REMARK GeneRIF: Studies have identified a Gas2/calpain-dependent mechanism
by which ICSBP influences beta-catenin activity in myeloid
leukemia.
REFERENCE 3 (bases 1 to 2031)
AUTHORS Shimada,M., Miyagawa,T., Kawashima,M., Tanaka,S., Honda,Y.,
Honda,M. and Tokunaga,K.
TITLE An approach based on a genome-wide association study reveals
candidate loci for narcolepsy
JOURNAL Hum. Genet. 128 (4), 433-441 (2010)
PUBMED 20677014
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 4 (bases 1 to 2031)
AUTHORS Benetti,R., Copetti,T., Dell'Orso,S., Melloni,E., Brancolini,C.,
Monte,M. and Schneider,C.
TITLE The calpain system is involved in the constitutive regulation of
beta-catenin signaling functions
JOURNAL J. Biol. Chem. 280 (23), 22070-22080 (2005)
PUBMED 15817486
REMARK GeneRIF: Gas2DN can increase the activity of calpain and induce
degradation of stabilized/mutated beta-catenin
REFERENCE 5 (bases 1 to 2031)
AUTHORS Tsutsumi,S., Kamata,N., Vokes,T.J., Maruoka,Y., Nakakuki,K.,
Enomoto,S., Omura,K., Amagasa,T., Nagayama,M., Saito-Ohara,F.,
Inazawa,J., Moritani,M., Yamaoka,T., Inoue,H. and Itakura,M.
TITLE The novel gene encoding a putative transmembrane protein is mutated
in gnathodiaphyseal dysplasia (GDD)
JOURNAL Am. J. Hum. Genet. 74 (6), 1255-1261 (2004)
PUBMED 15124103
REFERENCE 6 (bases 1 to 2031)
AUTHORS Sgorbissa,A., Benetti,R., Marzinotto,S., Schneider,C. and
Brancolini,C.
TITLE Caspase-3 and caspase-7 but not caspase-6 cleave Gas2 in vitro:
implications for microfilament reorganization during apoptosis
JOURNAL J. Cell. Sci. 112 (PT 23), 4475-4482 (1999)
PUBMED 10564664
REFERENCE 7 (bases 1 to 2031)
AUTHORS Collavin,L., Buzzai,M., Saccone,S., Bernard,L., Federico,C.,
DellaValle,G., Brancolini,C. and Schneider,C.
TITLE cDNA characterization and chromosome mapping of the human GAS2 gene
JOURNAL Genomics 48 (2), 265-269 (1998)
PUBMED 9521882
REFERENCE 8 (bases 1 to 2031)
AUTHORS Brancolini,C., Bottega,S. and Schneider,C.
TITLE Gas2, a growth arrest-specific protein, is a component of the
microfilament network system
JOURNAL J. Cell Biol. 117 (6), 1251-1261 (1992)
PUBMED 1607387
REFERENCE 9 (bases 1 to 2031)
AUTHORS Schneider,C., King,R.M. and Philipson,L.
TITLE Genes specifically expressed at growth arrest of mammalian cells
JOURNAL Cell 54 (6), 787-793 (1988)
PUBMED 3409319
REFERENCE 10 (bases 1 to 2031)
AUTHORS Olson,R.E., Morello,J.A. and Kieff,E.D.
TITLE Antibiotic treatment of oral anaerobic infections
JOURNAL J Oral Surg 33 (8), 619-621 (1975)
PUBMED 1056466
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AU099094.1, U95032.1,
AC006299.1 and AI374985.1.
On Jan 9, 2009 this sequence version replaced gi:29540560.
Summary: The protein encoded by this gene is a caspase-3 substrate
that plays a role in regulating microfilament and cell shape
changes during apoptosis. It can also modulate cell susceptibility
to p53-dependent apoptosis by inhibiting calpain activity. Multiple
alternatively spliced variants, encoding the same protein, have
been identified. [provided by RefSeq, Jan 2009].
Transcript Variant: This variant (1) differs in the 5' UTR compared
to variant 2. Variants 1, 2, and 3 encode the same protein.
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 :: U95032.1, CR450285.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025088 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-300 AU099094.1 1-300
301-1469 U95032.1 270-1438
1470-1597 AC006299.1 114996-115123 c
1598-2031 AI374985.1 1-434 c
FEATURES Location/Qualifiers
source 1..2031
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="11"
/map="11p14.3"
gene 1..2031
/gene="GAS2"
/note="growth arrest-specific 2"
/db_xref="GeneID:2620"
/db_xref="HGNC:4167"
/db_xref="HPRD:04158"
/db_xref="MIM:602835"
exon 1..242
/gene="GAS2"
/inference="alignment:Splign:1.39.8"
variation 46
/gene="GAS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:377124784"
variation 61
/gene="GAS2"
/replace=""
/replace="t"
/db_xref="dbSNP:146000909"
variation 89
/gene="GAS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:372335985"
misc_feature 92..94
/gene="GAS2"
/note="upstream in-frame stop codon"
variation 96
/gene="GAS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:147608463"
CDS 98..1039
/gene="GAS2"
/note="GAS-2"
/codon_start=1
/product="growth arrest-specific protein 2"
/protein_id="NP_005247.1"
/db_xref="GI:4885253"
/db_xref="CCDS:CCDS7858.1"
/db_xref="GeneID:2620"
/db_xref="HGNC:4167"
/db_xref="HPRD:04158"
/db_xref="MIM:602835"
/translation="
MCTALSPKVRSGPGLSDMHQYSQWLASRHEANLLPMKEDLALWLTNLLGKEITAETFMEKLDNGALLCQLAETMQEKFKESMDANKPTKNLPLKKIPCKTSAPSGSFFARDNTANFLSWCRDLGVDETCLFESEGLVLHKQPREVCLCLLELGRIAARYGVEPPGLIKLEKEIEQEETLSAPSPSPSPSSKSSGKKSTGNLLDDAVKRISEDPPCKCPNKFCVERLSQGRYRVGEKILFIRMLHNKHVMVRVGGGWETFAGYLLKHDPCRMLQISRVDGKTSPIQSKSPTLKDMNPDNYLVVSASYKAKKEIK
"
misc_feature 200..568
/gene="GAS2"
/note="Calponin homology domain; actin-binding domain
which may be present as a single copy or in tandem repeats
(which increases binding affinity). The CH domain is found
in cytoskeletal and signal transduction proteins,
including actin-binding proteins like...; Region: CH;
cd00014"
/db_xref="CDD:28898"
misc_feature order(200..205,209..217,224..226,233..235,446..451,
458..460,467..469,473..475,524..529,536..541,545..550,
557..562)
/gene="GAS2"
/note="putative actin binding surface [polypeptide
binding]; other site"
/db_xref="CDD:28898"
misc_feature 695..916
/gene="GAS2"
/note="Growth-Arrest-Specific Protein 2 Domain; Region:
GAS2; pfam02187"
/db_xref="CDD:111117"
misc_feature 929..934
/gene="GAS2"
/experiment="experimental evidence, no additional details
recorded"
/note="Cleavage, by a caspase during apoptosis; propagated
from UniProtKB/Swiss-Prot (O43903.1); cleavage site"
variation 133
/gene="GAS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:922571"
variation 183
/gene="GAS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:375761095"
variation 188
/gene="GAS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201780635"
variation 193
/gene="GAS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:368894523"
exon 243..364
/gene="GAS2"
/inference="alignment:Splign:1.39.8"
variation 257
/gene="GAS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:373635653"
variation 325
/gene="GAS2"
/replace="g"
/replace="t"
/db_xref="dbSNP:146140003"
variation 337
/gene="GAS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:146975877"
variation 342
/gene="GAS2"
/replace="a"
/replace="t"
/db_xref="dbSNP:375553055"
variation 349
/gene="GAS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:202245308"
variation 356
/gene="GAS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:61737410"
exon 365..506
/gene="GAS2"
/inference="alignment:Splign:1.39.8"
variation 367
/gene="GAS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:35691300"
variation 373
/gene="GAS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:371383777"
variation 403
/gene="GAS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:202203862"
variation 409
/gene="GAS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201723000"
variation 487
/gene="GAS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:143431625"
variation 491
/gene="GAS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:202178366"
exon 507..570
/gene="GAS2"
/inference="alignment:Splign:1.39.8"
variation 520
/gene="GAS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:147985883"
exon 571..712
/gene="GAS2"
/inference="alignment:Splign:1.39.8"
variation 574
/gene="GAS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:7122835"
variation 576
/gene="GAS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:371812344"
variation 583
/gene="GAS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200683264"
variation 670
/gene="GAS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:376834852"
variation 674
/gene="GAS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:202071606"
exon 713..820
/gene="GAS2"
/inference="alignment:Splign:1.39.8"
variation 728
/gene="GAS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:61752921"
variation 734
/gene="GAS2"
/replace="a"
/replace="c"
/db_xref="dbSNP:147592960"
variation 737
/gene="GAS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:145978353"
variation 738..739
/gene="GAS2"
/replace=""
/replace="c"
/db_xref="dbSNP:34178399"
variation 782
/gene="GAS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200391147"
variation 814
/gene="GAS2"
/replace="a"
/replace="c"
/db_xref="dbSNP:139683102"
exon 821..2024
/gene="GAS2"
/inference="alignment:Splign:1.39.8"
variation 910
/gene="GAS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:370916450"
variation 977
/gene="GAS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:142914168"
variation 996
/gene="GAS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:376085542"
variation 1011
/gene="GAS2"
/replace="g"
/replace="t"
/db_xref="dbSNP:146123653"
variation 1027
/gene="GAS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:139955076"
variation 1029
/gene="GAS2"
/replace="a"
/replace="t"
/db_xref="dbSNP:149855507"
variation 1085
/gene="GAS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:370368000"
variation 1127
/gene="GAS2"
/replace="g"
/replace="t"
/db_xref="dbSNP:200943353"
variation 1164
/gene="GAS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:187742580"
variation 1190
/gene="GAS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:192771124"
variation 1216
/gene="GAS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:140401991"
variation 1256
/gene="GAS2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2267744"
variation 1319
/gene="GAS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:184076913"
variation 1341
/gene="GAS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:189255822"
variation 1451..1452
/gene="GAS2"
/replace=""
/replace="t"
/db_xref="dbSNP:370684966"
variation 1470..1471
/gene="GAS2"
/replace=""
/replace="ttt"
/db_xref="dbSNP:72112746"
variation 1606
/gene="GAS2"
/replace="a"
/replace="c"
/db_xref="dbSNP:4923029"
variation 1666
/gene="GAS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1055320"
variation 1745
/gene="GAS2"
/replace="a"
/replace="c"
/db_xref="dbSNP:200441772"
variation 1853
/gene="GAS2"
/replace="a"
/replace="c"
/db_xref="dbSNP:4923030"
variation 1877
/gene="GAS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:192118680"
variation 1879
/gene="GAS2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1055321"
variation 1900
/gene="GAS2"
/replace="g"
/replace="t"
/db_xref="dbSNP:3195814"
variation 1988
/gene="GAS2"
/replace="a"
/replace="c"
/db_xref="dbSNP:4923031"
polyA_signal 1997..2002
/gene="GAS2"
polyA_site 2024
/gene="GAS2"
ORIGIN
cattataatgtcatgatgacaacattttgtgagagaagtctgtataaaaagcaattgctcttttgtttccaaaacaggtattacaagtggataaataatgtgcactgctctgagcccaaaggtacgcagtggacctggcctctctgatatgcatcagtatagccaatggctagccagcagacatgaagctaatttgctaccaatgaaagaagatctggccttgtggttaaccaatctattagggaaggagattacagcagaaacttttatggagaagttggacaatggtgccttgctctgtcaacttgcagaaactatgcaggagaaattcaaggagagcatggatgctaacaagcccacaaagaatctaccgttgaagaagatcccatgcaaaaccagtgcaccctcgggctccttttttgccagagacaatacagcaaatttcttatcctggtgccgagatttaggggtggatgaaacgtgtctatttgaatcggaaggtttggtcctccacaagcaacccagagaagtgtgtctctgtctgctagagcttggccggattgcagccaggtatggtgtggagcctcctggtttgataaagctggaaaaagagattgaacaagaagaaacactttctgccccttctccttcaccttctccttcatcaaagtcttctggaaaaaagagtacaggaaacttactggatgatgcagtgaaacgaatttctgaagatcctccttgcaaatgcccaaacaagttctgtgtggagcggctctcccaaggaagataccgagtgggagaaaagatcctcttcattaggatgctgcacaacaaacatgtcatggtccgtgtgggaggaggctgggaaacttttgcagggtatttgttgaaacacgacccctgccgaatgctgcagatctcccgtgtggatggcaaaacatcccctatccaaagcaaatctccaactctaaaggacatgaatccagataactacttggtggtctctgccagttataaggctaagaaggaaattaagtgaaacaaattggtcatgacaaggggaccctcataatggcctgtatccacttctccagtatagtcagtttagttcatatgttctgaaaactgttttggagaaagatagacagaaaaatgtcatcatattgaaaaatgttcaaagagtagcactatttatttttaatgcttctgtagaatatgacctattaaaagaaaatctaaactcaaatttaaattatccaaattttaggcaaattattatttctcaatatgcgaacacagtatttagaacacaatattagaaacacaattctaactaaagataaataaggagaaaacatttaggatttgcagataagtcaacagaaagtgcctgctttacactcatgagtaaaagcactccagacatttttataattgcaagatttttatgcttttttttttttttttttacaaaatgatgattagtgtgataatgtgctgcaaaaaatatccaacagcactacacataagtacagagtattcacaatagtaatatgttactggaaaggccacttccgaaaagtttacattcacttggaaggctgccttaaagtatatctcttatctatgaccaaatatctggggtacttttagaagttttcagtacacccccttagagaatagcttatgagttatttcacacattcctgagcacatggctgtgtttagaatgatctagtgtaattcatacatgagctgacatacgttgatactttgacgagtaaattgtacagtcaaatgttcattgatttcatgttatttcaaagcattttcttattaaaaatatatctttagttaatcctattttgctatgctttctagtaaagtaaattcactgtagctaatgatgttacagacttacgtatacccttgtatacctgggacagggctgttttataccaataaacagcaaaatattgtccttactcattcaagaattaaaaggataaattttaaaaatgttaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:2620 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
GeneID:2620 -> Biological process: GO:0006921 [cellular component disassembly involved in execution phase of apoptosis] evidence: TAS
GeneID:2620 -> Biological process: GO:0007050 [cell cycle arrest] evidence: IEA
GeneID:2620 -> Biological process: GO:0008360 [regulation of cell shape] evidence: IEA
GeneID:2620 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:2620 -> Cellular component: GO:0005884 [actin filament] evidence: TAS
GeneID:2620 -> Cellular component: GO:0016020 [membrane] evidence: IEA
by
@meso_cacase at
DBCLS
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