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2024-04-23 21:50:54, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001199462 2996 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens programmed cell death 2 (PDCD2), transcript variant 4,
mRNA.
ACCESSION NM_001199462
VERSION NM_001199462.1 GI:313851172
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 2996)
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 2996)
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 2996)
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 2996)
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 2996)
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 2996)
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 2996)
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 2996)
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 2996)
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 DC351104.1, AY948416.1 and
AK055180.1.
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 (4) uses an alternate in-frame
splice site in the 5' coding region, compared to variant 1. The
resulting protein (isoform 4) is shorter, compared to isoform 1.
##Evidence-Data-START##
Transcript exon combination :: AY948416.1 [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
1-73 DC351104.1 1-73
74-1009 AY948416.1 1-936
1010-2996 AK055180.1 1024-3010
FEATURES Location/Qualifiers
source 1..2996
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="6"
/map="6q27"
gene 1..2996
/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..1009
/gene="PDCD2"
/gene_synonym="RP8; ZMYND7"
/note="isoform 4 is encoded by transcript variant 4; 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 4"
/protein_id="NP_001186391.1"
/db_xref="GI:313851173"
/db_xref="CCDS:CCDS56461.1"
/db_xref="GeneID:5134"
/db_xref="HGNC:8762"
/db_xref="MIM:600866"
/translation="
MAAAGARPVELGFAESAPAWRLRSEQFPSKVYAPLPGRPDAFHRCIFLFCCREQPCCAGLRVFRNQLPRKNDFYSYEPPSENPPPETGESVCLQLKSGAHLCRVCGCLGPKTCSRCHKAYYCSKEHQTLDWRLGHKQACAQPDHLDHIIPDHNFLFPEFEIVIETEDEIMPEVVEKEDYSEIIGSMGEALEEELDSMAKHESREDKIFQKFKTQIALEPEQILRYGRGIAPIWISGENIPQEKDIPDCPCGAKRILEFQVMPQLLNYLKADRLGKSIDWGILAVFTCAESCSLGTGYTEEFVWKQDVTDTP
"
misc_feature 377..490
/gene="PDCD2"
/gene_synonym="RP8; ZMYND7"
/note="MYND finger; Region: zf-MYND; pfam01753"
/db_xref="CDD:201954"
misc_feature 521..997
/gene="PDCD2"
/gene_synonym="RP8; ZMYND7"
/note="Programmed cell death protein 2, C-terminal
putative domain; Region: PDCD2_C; pfam04194"
/db_xref="CDD:202927"
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..632
/gene="PDCD2"
/gene_synonym="RP8; ZMYND7"
/inference="alignment:Splign:1.39.8"
exon 633..736
/gene="PDCD2"
/gene_synonym="RP8; ZMYND7"
/inference="alignment:Splign:1.39.8"
exon 737..850
/gene="PDCD2"
/gene_synonym="RP8; ZMYND7"
/inference="alignment:Splign:1.39.8"
exon 851..2996
/gene="PDCD2"
/gene_synonym="RP8; ZMYND7"
/inference="alignment:Splign:1.39.8"
STS 1011..1143
/gene="PDCD2"
/gene_synonym="RP8; ZMYND7"
/standard_name="STS-N37094"
/db_xref="UniSTS:43039"
variation 1125
/gene="PDCD2"
/gene_synonym="RP8; ZMYND7"
/replace="a"
/replace="g"
/db_xref="dbSNP:8770"
polyA_signal 1181..1186
/gene="PDCD2"
/gene_synonym="RP8; ZMYND7"
polyA_signal 1185..1190
/gene="PDCD2"
/gene_synonym="RP8; ZMYND7"
polyA_site 1206
/gene="PDCD2"
/gene_synonym="RP8; ZMYND7"
variation 1280
/gene="PDCD2"
/gene_synonym="RP8; ZMYND7"
/replace="g"
/replace="t"
/db_xref="dbSNP:17875295"
polyA_signal 1416..1421
/gene="PDCD2"
/gene_synonym="RP8; ZMYND7"
polyA_site 1449
/gene="PDCD2"
/gene_synonym="RP8; ZMYND7"
variation 1744
/gene="PDCD2"
/gene_synonym="RP8; ZMYND7"
/replace="a"
/replace="g"
/db_xref="dbSNP:3734763"
STS 2823..2927
/gene="PDCD2"
/gene_synonym="RP8; ZMYND7"
/standard_name="WI-11564"
/db_xref="UniSTS:79973"
polyA_signal 2938..2943
/gene="PDCD2"
/gene_synonym="RP8; ZMYND7"
polyA_signal 2966..2971
/gene="PDCD2"
/gene_synonym="RP8; ZMYND7"
polyA_site 2974
/gene="PDCD2"
/gene_synonym="RP8; ZMYND7"
polyA_site 2996
/gene="PDCD2"
/gene_synonym="RP8; ZMYND7"
ORIGIN
cttccggcccggcgcccgatttccgccttccgacccagctgtgggctgcgccccacgccagcccgcgccccgcatggctgccgccggggccaggcctgtggagctgggcttcgccgagtcggcgccggcgtggcgactgcgcagcgagcagttccccagcaaggtgtatgcgccgctgcctggccgcccggacgccttccaccgctgcatcttcctcttctgctgccgcgagcagccgtgctgtgccggcctgcgagtttttaggaatcaactacccaggaaaaacgatttttactcatatgagccaccttctgagaatcctcccccagaaacaggagaatcagtgtgtctccagcttaagtctggtgctcatctctgcagggtttgtggctgtttaggccccaaaacgtgctccagatgccacaaagcatattactgcagcaaggagcatcagaccctagactggagattgggacataagcaggcttgtgcacaaccagatcatctggaccatataattccagaccacaacttcctttttccagaatttgaaattgtaatagaaacagaagatgagattatgcctgaggttgtggaaaaggaagattactcagagattatagggagcatgggtgaagcacttgaggaagaactggattccatggcaaaacatgaatccagggaagataaaatttttcagaagtttaaaactcagatagcccttgaaccagaacagattcttagatatggcagaggtattgcccccatctggatttctggtgaaaatattcctcaagaaaaggatattccagattgcccctgtggtgccaagagaatattggaattccaggtcatgcctcagctcctaaactacctgaaggctgacagactgggcaagagcattgactggggcatcctggctgtcttcacctgtgctgagagctgcagcttgggtactggctatacagaagaatttgtgtggaagcaggatgtaacagatacaccgtaaaggcatcttaaagccttgaaaaatgttaataatcttttataccttgcaattccatttctgggattttatcctaaggaaatacttataccaaaaatagaggtgcagagatgttgacagattgcttacacagtgtctacttattagtgaaacaaaagtgtccagtgacagggaattaaataaattttggtacatccacagaggaaggctacacagtcttaattataacacctatattgacaacagacataccattataggtggtattcatggtatgatcctattcttgtaaaaatatttgtatgtatgcacagaaatctgcaaagatgtacacttagtgaactggttaccaacgaatggtgggactaactaaaatggtctttttacttatatgtgcatttctttttataataaaaatgggttatatgcctaatgaagtcaaaccatctcactctgagcatttcccaccctaggtttttaaaacacaaaaatacttaggtaaaactcccaacaaacttgtctgatcattagctgattatcacaggctctagtatgtactggaagcccagaatatttgagaaataccaaacctcaggttggtgagtatgatgaacaggaaacccagtaattctgaagcagcagtatcacagttggcaggatgaggaacaacagtggctttgtgatcacagaactggaatttaaagaggctggaccttcagaactgatcttggtcagccagcggccctgcttacagatgagacactgaaaggcaaaaggcgatggtcttccctttccgtgtcagcattgtatacaggttccctatcgcacatacaagggttatggaatgtaagccaaaataagggtctggcctaggaggcagcagcctgaggaaaggaaggccctgaagtcagttttcaaagggctgacccttggcctattatgtttctgatacatctgtttaagcaagcggctcctaagactacactaaggtttcttccatcccctagcagctcacagttgacaattcccagttctctcagcaccagtgatgcctgcccttaagacacattgctgttgatcagtgcttgaatactgacggctaattctgataaatttctcaggcttatttccttaatctacattggctcacattgtcccctaacacatccctgttaactgaaatgcattgccaccataaatcctcacgttttcataggtaacatcacttgctaatgtaattgtctacttggctattttatttgtaatttaaaaagttctgtcctagtagtccatattatataagtatacatatgcaatttgtattaattgtataagatagttatacatagcaccatatgggaaactgcagtatggagtttctcccatggggaggttatcagctacttaagagctagaggatactagtttcgaacctgggatggctaaatctatgaaaatcacctataactatggtgtcacagccctgtggctactggagtaagttgtcatcaactagtgacaagagctggtcgcaacacttagtaggaagcacagtggcataaggaaacctggactagtggggcctttatatctaaaattatgtattattccttataggcagaatctgtaagtacgttatgactgctaatgacttttaaagcaaacatgttaacgatctttctatggtaaaaactgttatttggggacatcaccagatgatgtggacattcttgcaggtattttggcatacccaggcaagctgtcattggtgtatattccagttaacctctggagatgatcgtaacagtttacagggcctttccatttgggatggatatatcaagagggagacaaactggtccaaatcaccagaaagaaaatctcacagcaccgacttggcatctgtgttaaaaaatagcaactatatttaaaataaactgtacaacataaaaaatttaaattaaaaaatgcattaagcaagttgccttta
//
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
by
@meso_cacase at
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