2024-04-26 06:35:39, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001199463 1961 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens programmed cell death 2 (PDCD2), transcript variant 5, mRNA. ACCESSION NM_001199463 VERSION NM_001199463.1 GI:313850997 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 1961) AUTHORS Kokorina,N.A., Granier,C.J., Zakharkin,S.O., Davis,S., Rabson,A.B. and Sabaawy,H.E. TITLE PDCD2 knockdown inhibits erythroid but not megakaryocytic lineage differentiation of human hematopoietic stem/progenitor cells JOURNAL Exp. Hematol. 40 (12), 1028-1042 (2012) PUBMED 22922207 REMARK GeneRIF: PDCD2 has a novel regulatory role in human hematopoiesis and is essential for erythroid development. REFERENCE 2 (bases 1 to 1961) AUTHORS Baron,B.W., Hyjek,E., Gladstone,B., Thirman,M.J. and Baron,J.M. TITLE PDCD2, a protein whose expression is repressed by BCL6, induces apoptosis in human cells by activation of the caspase cascade JOURNAL Blood Cells Mol. Dis. 45 (2), 169-175 (2010) PUBMED 20605493 REMARK GeneRIF: Transfection of a construct expressing PDCD2 induces apoptosis in human cell lines through activation of the caspase cascade. REFERENCE 3 (bases 1 to 1961) AUTHORS Fukae,J., Sato,S., Shiba,K., Sato,K., Mori,H., Sharp,P.A., Mizuno,Y. and Hattori,N. TITLE Programmed cell death-2 isoform1 is ubiquitinated by parkin and increased in the substantia nigra of patients with autosomal recessive Parkinson's disease JOURNAL FEBS Lett. 583 (3), 521-525 (2009) PUBMED 19146857 REMARK GeneRIF: parkin interacts with programmed cell death-2 isoform 1 (PDCD2-1) REFERENCE 4 (bases 1 to 1961) AUTHORS Baron,B.W., Zeleznik-Le,N., Baron,M.J., Theisler,C., Huo,D., Krasowski,M.D., Thirman,M.J., Baron,R.M. and Baron,J.M. TITLE Repression of the PDCD2 gene by BCL6 and the implications for the pathogenesis of human B and T cell lymphomas JOURNAL Proc. Natl. Acad. Sci. U.S.A. 104 (18), 7449-7454 (2007) PUBMED 17468402 REMARK GeneRIF: repression of PDCD2 by BCL6 is likely important in the pathogenesis of certain human lymphomas REFERENCE 5 (bases 1 to 1961) AUTHORS Chen,Q., Qian,K. and Yan,C. TITLE Cloning of cDNAs with PDCD2(C) domain and their expressions during apoptosis of HEK293T cells JOURNAL Mol. Cell. Biochem. 280 (1-2), 185-191 (2005) PUBMED 16311922 REMARK GeneRIF: To study the role of PDCD2_C domain in apoptosis, the cDNAs of two isoforms of PDCD2 and MGC13096 were cloned. PDCD2 (NM_002598) was over expressed when endothelial cells treated with leukotriene D4 or natural killer cells were activated by IL-2. REFERENCE 6 (bases 1 to 1961) AUTHORS Chistiakov,D.A., Seryogin,Y.A., Turakulov,R.I., Savost'anov,K.V., Titovich,E.V., Zilberman,L.I., Kuraeva,T.L., Dedov,I.I. and Nosikov,V.V. TITLE Evaluation of IDDM8 susceptibility locus in a Russian simplex family data set JOURNAL J. Autoimmun. 24 (3), 243-250 (2005) PUBMED 15848047 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 7 (bases 1 to 1961) AUTHORS Scarr,R.B. and Sharp,P.A. TITLE PDCD2 is a negative regulator of HCF-1 (C1) JOURNAL Oncogene 21 (34), 5245-5254 (2002) PUBMED 12149646 REFERENCE 8 (bases 1 to 1961) AUTHORS Baron,B.W., Anastasi,J., Thirman,M.J., Furukawa,Y., Fears,S., Kim,D.C., Simone,F., Birkenbach,M., Montag,A., Sadhu,A., Zeleznik-Le,N. and McKeithan,T.W. TITLE The human programmed cell death-2 (PDCD2) gene is a target of BCL6 repression: implications for a role of BCL6 in the down-regulation of apoptosis JOURNAL Proc. Natl. Acad. Sci. U.S.A. 99 (5), 2860-2865 (2002) PUBMED 11854457 REFERENCE 9 (bases 1 to 1961) AUTHORS Kawakami,T., Furukawa,Y., Sudo,K., Saito,H., Takami,S., Takahashi,E. and Nakamura,Y. TITLE Isolation and mapping of a human gene (PDCD2) that is highly homologous to Rp8, a rat gene associated with programmed cell death JOURNAL Cytogenet. Cell Genet. 71 (1), 41-43 (1995) PUBMED 7606924 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK297343.1, AL031259.1 and AJ420535.1. Summary: This gene encodes a nuclear protein expressed in a variety of tissues. Expression of this gene has been shown to be repressed by B-cell CLL/lymphoma 6 (BCL6), a transcriptional repressor required for lymph node germinal center development, suggesting that BCL6 regulates apoptosis by its effects on this protein. Alternative splicing results in multiple transcript variants and pseudogenes have been identified on chromosomes 9 and 12. [provided by RefSeq, Dec 2010]. Transcript Variant: This variant (5) uses an alternate in-frame splice site in the 5' coding region and differs in the 3' coding region and UTR, compared to variant 1. The resulting protein (isoform 5) is shorter and has a distinct C-terminus, compared to isoform 1. ##Evidence-Data-START## Transcript exon combination :: AK297343.1, BX396302.2 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025081, ERS025082 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-676 AK297343.1 1-676 677-677 AL031259.1 65930-65930 678-920 AK297343.1 678-920 921-921 AL031259.1 66174-66174 922-986 AK297343.1 922-986 987-1283 AJ420535.1 870-1166 1284-1284 AL031259.1 66537-66537 1285-1961 AJ420535.1 1168-1844 FEATURES Location/Qualifiers source 1..1961 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="6" /map="6q27" gene 1..1961 /gene="PDCD2" /gene_synonym="RP8; ZMYND7" /note="programmed cell death 2" /db_xref="GeneID:5134" /db_xref="HGNC:8762" /db_xref="MIM:600866" exon 1..163 /gene="PDCD2" /gene_synonym="RP8; ZMYND7" /inference="alignment:Splign:1.39.8" CDS 74..661 /gene="PDCD2" /gene_synonym="RP8; ZMYND7" /note="isoform 5 is encoded by transcript variant 5; zinc finger protein Rp-8; programmed cell death protein 2; zinc finger MYND domain-containing protein 7" /codon_start=1 /product="programmed cell death protein 2 isoform 5" /protein_id="NP_001186392.1" /db_xref="GI:313850998" /db_xref="CCDS:CCDS56460.1" /db_xref="GeneID:5134" /db_xref="HGNC:8762" /db_xref="MIM:600866" /translation="
MAAAGARPVELGFAESAPAWRLRSEQFPSKVYAPLPGRPDAFHRCIFLFCCREQPCCAGLRVFRNQLPRKNDFYSYEPPSENPPPETGESVCLQLKSGAHLCRVCGCLGPKTCSRCHKAYYCSKEHQTLDWRLGHKQACAQPDHLDHIIPDHNFLFPEFEIVIETEDEIMPEVVEKEDYSEIIGSMGKQFQDFIH
" misc_feature 377..490 /gene="PDCD2" /gene_synonym="RP8; ZMYND7" /note="MYND finger; Region: zf-MYND; pfam01753" /db_xref="CDD:201954" exon 164..257 /gene="PDCD2" /gene_synonym="RP8; ZMYND7" /inference="alignment:Splign:1.39.8" variation 235 /gene="PDCD2" /gene_synonym="RP8; ZMYND7" /replace="g" /replace="t" /db_xref="dbSNP:11557807" STS 249..423 /gene="PDCD2" /gene_synonym="RP8; ZMYND7" /standard_name="RH40415" /db_xref="UniSTS:89054" exon 258..500 /gene="PDCD2" /gene_synonym="RP8; ZMYND7" /inference="alignment:Splign:1.39.8" STS 392..493 /gene="PDCD2" /gene_synonym="RP8; ZMYND7" /standard_name="SHGC-31353" /db_xref="UniSTS:75965" exon 501..1942 /gene="PDCD2" /gene_synonym="RP8; ZMYND7" /inference="alignment:Splign:1.39.8" variation 921 /gene="PDCD2" /gene_synonym="RP8; ZMYND7" /replace="g" /replace="t" /db_xref="dbSNP:2072917" variation 1284 /gene="PDCD2" /gene_synonym="RP8; ZMYND7" /replace="a" /replace="c" /db_xref="dbSNP:2066954" STS 1627..1851 /gene="PDCD2" /gene_synonym="RP8; ZMYND7" /standard_name="RH39860" /db_xref="UniSTS:91330" STS 1687..1907 /gene="PDCD2" /gene_synonym="RP8; ZMYND7" /standard_name="SHGC-132283" /db_xref="UniSTS:170760" STS 1687..1839 /gene="PDCD2" /gene_synonym="RP8; ZMYND7" /standard_name="SHGC-183" /db_xref="UniSTS:70157" STS 1772..1905 /gene="PDCD2" /gene_synonym="RP8; ZMYND7" /standard_name="RH46730" /db_xref="UniSTS:8505" polyA_signal 1924..1929 /gene="PDCD2" /gene_synonym="RP8; ZMYND7" polyA_site 1942 /gene="PDCD2" /gene_synonym="RP8; ZMYND7" ORIGIN
cttccggcccggcgcccgatttccgccttccgacccagctgtgggctgcgccccacgccagcccgcgccccgcatggctgccgccggggccaggcctgtggagctgggcttcgccgagtcggcgccggcgtggcgactgcgcagcgagcagttccccagcaaggtgtatgcgccgctgcctggccgcccggacgccttccaccgctgcatcttcctcttctgctgccgcgagcagccgtgctgtgccggcctgcgagtttttaggaatcaactacccaggaaaaacgatttttactcatatgagccaccttctgagaatcctcccccagaaacaggagaatcagtgtgtctccagcttaagtctggtgctcatctctgcagggtttgtggctgtttaggccccaaaacgtgctccagatgccacaaagcatattactgcagcaaggagcatcagaccctagactggagattgggacataagcaggcttgtgcacaaccagatcatctggaccatataattccagaccacaacttcctttttccagaatttgaaattgtaatagaaacagaagatgagattatgcctgaggttgtggaaaaggaagattactcagagattatagggagcatgggtaagcagtttcaggacttcattcattaagtggttaaacataatacttggaagaaagggctccatgtgcctagaagagaggtactgagaggaagactcactttggaggctgtagcatacaattttcagatattgcctcaggtaaaaatatacttcctggactttgttttctgacacataagaggtgtgttctgctccctgtaaagacaagggtgggtatccagatggtcccatgagtagggctgcacaagatgctggaggcttggtaagttcctctgggtcgcagatcggtttctcgggtcgggatagtgtgagtgcctagcacagtgtcgggcacgcagaagggccccttaaaagtttctctttcatctggccagttttagatacacaattttgtcagtttacttacagtgcatactcttgggtagtacttgtgctgaccaagtatcttagaggcttattttattatagtagccaacatttatccagcacttaccttatataaagggctgtttgtgcatgagctcattaaaatcgtgacagcagaccaatgagtgagaaactgccccattttgaaggtgaggaaattgaggttctgggtataactttctttggtcacataatattaaattttacaatttgagccttgagccatacacaaaaccaccacaaaattagatttatagactcaaaatgaaaacatcagcttactggtttgtagttcataccagtcatacattccaaaacatgttttgagtcttactctgtgcctgaccttgtgcttgataacagggatataatgggaagcaacactccagtggtcagatgctcacagtcttatggaggagcccaaataatatctggggaagttaaagtccatataatgactgataagagtacaatacaggtgccatgggaacacgtgacatcactgaagactgcctggaaggggccgcgcgtgtgttcatgcctatacgataaacatgatacataatgaaaatgcttatctttaggagaaaggagagcctagagtagcaggatcaaggatgaaagctggacttcaaatatgccttgttagtgtaaatgtgactgtggaactgtatgagtattttaagattatggagtaaagtaagttttaaaaagcagtccctaatcatcaaaagtaaaaaactcttgatgtagtcatataaccacactaagaactcttccaggtgacttcaaaacataggacagtacatctctagtagaatatgccctgagaatgaaaagaatgtaacagtgttagtattttgaataaacatgttattactaaaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:5134 -> Molecular function: GO:0003677 [DNA binding] evidence: IEA GeneID:5134 -> Molecular function: GO:0046872 [metal ion binding] evidence: IEA GeneID:5134 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:5134 -> Cellular component: GO:0005634 [nucleus] evidence: IEA GeneID:5134 -> Cellular component: GO:0005737 [cytoplasm] evidence: IEA
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