2025-05-09 20:05:20, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_002586 3231 bp mRNA linear PRI 15-JUN-2013 DEFINITION Homo sapiens pre-B-cell leukemia homeobox 2 (PBX2), mRNA. ACCESSION NM_002586 VERSION NM_002586.4 GI:124494249 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 3231) AUTHORS Yamazaki,K., Umeno,J., Takahashi,A., Hirano,A., Johnson,T.A., Kumasaka,N., Morizono,T., Hosono,N., Kawaguchi,T., Takazoe,M., Yamada,T., Suzuki,Y., Tanaka,H., Motoya,S., Hosokawa,M., Arimura,Y., Shinomura,Y., Matsui,T., Matsumoto,T., Iida,M., Tsunoda,T., Nakamura,Y., Kamatani,N. and Kubo,M. TITLE A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population JOURNAL Gastroenterology 144 (4), 781-788 (2013) PUBMED 23266558 REFERENCE 2 (bases 1 to 3231) AUTHORS Hirota,T., Takahashi,A., Kubo,M., Tsunoda,T., Tomita,K., Sakashita,M., Yamada,T., Fujieda,S., Tanaka,S., Doi,S., Miyatake,A., Enomoto,T., Nishiyama,C., Nakano,N., Maeda,K., Okumura,K., Ogawa,H., Ikeda,S., Noguchi,E., Sakamoto,T., Hizawa,N., Ebe,K., Saeki,H., Sasaki,T., Ebihara,T., Amagai,M., Takeuchi,S., Furue,M., Nakamura,Y. and Tamari,M. TITLE Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population JOURNAL Nat. Genet. 44 (11), 1222-1226 (2012) PUBMED 23042114 REFERENCE 3 (bases 1 to 3231) AUTHORS Qiu,Y., Wang,Z.L., Jin,S.Q., Pu,Y.F., Toyosawa,S., Aozasa,K. and Morii,E. TITLE Expression level of pre-B-cell leukemia transcription factor 2 (PBX2) as a prognostic marker for gingival squamous cell carcinoma JOURNAL J Zhejiang Univ Sci B 13 (3), 168-175 (2012) PUBMED 22374608 REMARK GeneRIF: a high level of PBX2 is a poor prognosticator for disease-free survival and overall survival in gingival squamous cell carcinoma REFERENCE 4 (bases 1 to 3231) AUTHORS Hirota,T., Takahashi,A., Kubo,M., Tsunoda,T., Tomita,K., Doi,S., Fujita,K., Miyatake,A., Enomoto,T., Miyagawa,T., Adachi,M., Tanaka,H., Niimi,A., Matsumoto,H., Ito,I., Masuko,H., Sakamoto,T., Hizawa,N., Taniguchi,M., Lima,J.J., Irvin,C.G., Peters,S.P., Himes,B.E., Litonjua,A.A., Tantisira,K.G., Weiss,S.T., Kamatani,N., Nakamura,Y. and Tamari,M. TITLE Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population JOURNAL Nat. Genet. 43 (9), 893-896 (2011) PUBMED 21804548 REMARK Publication Status: Online-Only REFERENCE 5 (bases 1 to 3231) AUTHORS Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S. CONSRTM DREAM investigators TITLE Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study JOURNAL Diabetes Care 33 (10), 2250-2253 (2010) PUBMED 20628086 REMARK GeneRIF: Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) REFERENCE 6 (bases 1 to 3231) AUTHORS Katsanis,N., Fitzgibbon,J. and Fisher,E.M. TITLE Paralogy mapping: identification of a region in the human MHC triplicated onto human chromosomes 1 and 9 allows the prediction and isolation of novel PBX and NOTCH loci JOURNAL Genomics 35 (1), 101-108 (1996) PUBMED 8661110 REFERENCE 7 (bases 1 to 3231) AUTHORS Aguado,B. and Campbell,R.D. TITLE The novel gene G17, located in the human major histocompatibility complex, encodes PBX2, a homeodomain-containing protein JOURNAL Genomics 25 (3), 650-659 (1995) PUBMED 7759099 REFERENCE 8 (bases 1 to 3231) AUTHORS Sugaya,K., Fukagawa,T., Matsumoto,K., Mita,K., Takahashi,E., Ando,A., Inoko,H. and Ikemura,T. TITLE Three genes in the human MHC class III region near the junction with the class II: gene for receptor of advanced glycosylation end products, PBX2 homeobox gene and a notch homolog, human counterpart of mouse mammary tumor gene int-3 JOURNAL Genomics 23 (2), 408-419 (1994) PUBMED 7835890 REFERENCE 9 (bases 1 to 3231) AUTHORS Lu,Q., Wright,D.D. and Kamps,M.P. TITLE Fusion with E2A converts the Pbx1 homeodomain protein into a constitutive transcriptional activator in human leukemias carrying the t(1;19) translocation JOURNAL Mol. Cell. Biol. 14 (6), 3938-3948 (1994) PUBMED 7910944 REFERENCE 10 (bases 1 to 3231) AUTHORS Monica,K., Galili,N., Nourse,J., Saltman,D. and Cleary,M.L. TITLE PBX2 and PBX3, new homeobox genes with extensive homology to the human proto-oncogene PBX1 JOURNAL Mol. Cell. Biol. 11 (12), 6149-6157 (1991) PUBMED 1682799 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from X59842.1, BC082261.1, DB162975.1 and BQ182713.1. On Feb 6, 2007 this sequence version replaced gi:27436886. Summary: This gene encodes a ubiquitously expressed member of the TALE/PBX homeobox family. It was identified by its similarity to a homeobox gene which is involved in t(1;19) translocation in acute pre-B-cell leukemias. This protein is a transcriptional activator which binds to the TLX1 promoter. The gene is located within the major histocompatibility complex (MHC) on chromosome 6. [provided by RefSeq, Jul 2008]. 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 :: X59842.1, BC082261.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025088, ERS025098 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-1449 X59842.1 26-1474 1450-2313 BC082261.1 1202-2065 2314-2414 X59842.1 2339-2439 2415-3001 DB162975.1 15-601 3002-3231 BQ182713.1 1-230 c FEATURES Location/Qualifiers source 1..3231 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="6" /map="6p21.3" gene 1..3231 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /note="pre-B-cell leukemia homeobox 2" /db_xref="GeneID:5089" /db_xref="HGNC:8633" /db_xref="HPRD:08890" /db_xref="MIM:176311" exon 1..492 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /inference="alignment:Splign:1.39.8" misc_feature 215..217 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /note="upstream in-frame stop codon" variation 243 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /replace="a" /replace="g" /db_xref="dbSNP:2853808" variation 258 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /replace="c" /replace="g" /db_xref="dbSNP:2555458" CDS 272..1564 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /note="homeobox 12; homeobox protein PBX2" /codon_start=1 /product="pre-B-cell leukemia transcription factor 2" /protein_id="NP_002577.2" /db_xref="GI:27436887" /db_xref="CCDS:CCDS4748.1" /db_xref="GeneID:5089" /db_xref="HGNC:8633" /db_xref="HPRD:08890" /db_xref="MIM:176311" /translation="
MDERLLGPPPPGGGRGGLGLVSGEPGGPGEPPGGGDPGGGSGGVPGGRGKQDIGDILQQIMTITDQSLDEAQAKKHALNCHRMKPALFSVLCEIKEKTGLSIRSSQEEEPVDPQLMRLDNMLLAEGVAGPEKGGGSAAAAAAAAASGGGVSPDNSIEHSDYRSKLAQIRHIYHSELEKYEQACNEFTTHVMNLLREQSRTRPVAPKEMERMVSIIHRKFSAIQMQLKQSTCEAVMILRSRFLDARRKRRNFSKQATEVLNEYFYSHLSNPYPSEEAKEELAKKCGITVSQVSNWFGNKRIRYKKNIGKFQEEANIYAVKTAVSVTQGGHSRTSSPTPPSSAGSGGSFNLSGSGDMFLGMPGLNGDSYSASQVESLRHSMGPGGYGDNLGGGQMYSPREMRANGSWQEAVTPSSVTSPTEGPGSVHSDTSN
" misc_feature 419..1000 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /note="PBC domain; Region: PBC; pfam03792" /db_xref="CDD:146435" misc_feature 584..586 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 722..724 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P40425.2); phosphorylation site" misc_feature 1004..1186 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /note="Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner; Region: homeodomain; cd00086" /db_xref="CDD:28970" misc_feature order(1004..1018,1022..1024,1082..1084,1100..1102, 1139..1141,1145..1150,1157..1162,1166..1174,1178..1183) /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28970" misc_feature order(1010..1012,1019..1021,1148..1150,1157..1162, 1169..1171) /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:28970" misc_feature 1259..1261 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P40425.2); phosphorylation site" variation 325 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /replace="a" /replace="g" /db_xref="dbSNP:169503" exon 493..566 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /inference="alignment:Splign:1.39.8" STS 496..794 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /standard_name="GDB:607728" /db_xref="UniSTS:158273" exon 567..814 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /inference="alignment:Splign:1.39.8" STS 567..794 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /standard_name="GDB:607725" /db_xref="UniSTS:158272" exon 815..1005 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /inference="alignment:Splign:1.39.8" misc_feature 998..1189 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /note="homeobox" exon 1006..1141 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /inference="alignment:Splign:1.39.8" exon 1142..1295 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /inference="alignment:Splign:1.39.8" exon 1296..1384 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /inference="alignment:Splign:1.39.8" exon 1385..1471 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /inference="alignment:Splign:1.39.8" exon 1472..3213 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /inference="alignment:Splign:1.39.8" STS 1548..2440 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /standard_name="PBX2_2038" /db_xref="UniSTS:462915" variation 1595 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /replace="c" /replace="g" /db_xref="dbSNP:2078167" STS 1600..1935 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /standard_name="WI-7619" /db_xref="UniSTS:7171" variation 1690 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /replace="c" /replace="g" /db_xref="dbSNP:996" variation 1699 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /replace="c" /replace="t" /db_xref="dbSNP:998" STS 1700..2474 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /standard_name="GDB:607721" /db_xref="UniSTS:158271" variation 1706 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /replace="c" /replace="g" /db_xref="dbSNP:1002" variation 1750 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /replace="c" /replace="t" /db_xref="dbSNP:1001" variation 1789 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /replace="a" /replace="t" /db_xref="dbSNP:997" variation 1806 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /replace="g" /replace="t" /db_xref="dbSNP:995" variation 1828 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /replace="a" /replace="g" /db_xref="dbSNP:1000" variation 1837 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /replace="c" /replace="g" /db_xref="dbSNP:999" STS 2108..2278 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /standard_name="RH46823" /db_xref="UniSTS:88721" STS 2135..2461 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /standard_name="D6S2895" /db_xref="UniSTS:464322" STS 2205..2481 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /standard_name="D3S4540" /db_xref="UniSTS:53681" variation 2289 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /replace="g" /replace="t" /db_xref="dbSNP:1051993" variation 2310 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /replace="g" /replace="t" /db_xref="dbSNP:2555462" variation 2314 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /replace="g" /replace="t" /db_xref="dbSNP:1004095" variation 2317 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /replace="g" /replace="t" /db_xref="dbSNP:169504" variation 2499 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" /replace="c" /replace="g" /db_xref="dbSNP:2555463" polyA_signal 3187..3192 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" polyA_site 3213 /gene="PBX2" /gene_synonym="G17; HOX12; PBX2MHC" ORIGIN
ctctctcacacacacccccgcttgggcctcctctctctctccggctccattttctccgccgccgggggccggggtctcctgtggggggcccagccggtatcccaggtctcccttcagtgccggggtgaacccccgggggagccgggagccgggggcagacgggcgggggttggggcggagggagcagcggccccagcgagtttggggggagaagtaaccaggcggggggaggggcggagcagggagggggcctcagggcccccccccagctatggacgaacggctactggggccgccccctccaggcgggggccgggggggcctgggattggtgagtggggagcctgggggccctggcgagcctcccggtggcggagaccccggtgggggtagcgggggggtcccgggaggccgagggaagcaagacatcggggacattctgcagcagataatgaccatcaccgaccagagcctggacgaggcccaggccaagaaacacgccctaaactgccaccgaatgaagcctgctctctttagcgtcctgtgtgaaatcaaggagaaaactggcctcagcattcggagctcccaggaggaggagccggtggacccacagctgatgcgcttggacaacatgcttctggcagagggtgtggctgggcccgagaaagggggcggctcagcagcagcagctgcagccgctgcagcctctggtggtggtgtgtcccctgacaactccatcgaacactcggactatcgcagcaaacttgcccagatccgtcacatataccactcggagctggagaagtatgagcaggcatgtaatgagttcacgacccatgtcatgaacctgctgagggagcagagccgcaccaggcccgtggcccccaaagagatggaacgcatggtgagcatcatccatcgaaagttcagcgccatccagatgcagctgaagcagagcacctgcgaggctgtgatgatcctgcgctcccgtttcctggatgccagacgaaagcgccgtaacttcagcaaacaggccactgaggtcctaaatgagtatttctactcccacctgagtaacccatatcctagtgaggaggccaaggaggagcttgccaagaagtgtggcatcaccgtgtctcaggtctccaactggtttggcaacaagaggattcgctataagaaaaacatcggaaagttccaagaggaggcaaacatctatgctgtcaagaccgccgtgtcagtcacccaggggggccacagccgcaccagctccccgacacccccttcctctgcaggctctggcggctctttcaatctctcaggatctggagacatgtttctggggatgcctgggctcaacggagattcctattctgcttcccaggtggaatcactccgacactcgatggggccagggggctatggggataacctcgggggaggccagatgtacagcccacgggaaatgagggcaaatggcagctggcaagaggctgtgaccccctcttcagtgacatccccaacggagggaccagggagtgttcactctgatacctccaactgatcttgcccctcagggtcacaggggtgggggctctcacaaggcgacttgaagaggacgcaggcttccagaggacaaaccccaatacaggagaagcacaagacagagaagggccaatggggtcatcccctccctaacgagactctctgtgctgggggtgctaattacatggcaggaagaatggggcctctaaggggagtgtggggtctgtctctcccttttttccatctttttcctctctcgctttctttcttacacagaaacatacacataccgagaaacctatttctcagacccctttttctcctctgtctttctctctccctctcccacacctcacacacacatactcccacttgcaactattctgtttctctcctgggctcccccactttcccttccccaccccacttgtatgctctggaatctgtggagacgccagccctgcccaatcagagatgccaaaaatggggacatgacttctggacagaggacatgggccacgcccccatgcatccccacccccgcccctccggacggcttacttacctcatacgcagctcatcttaaaccaatagaatcgctcggtggacgagagtgtctgactcagatatctacctcggagggagtttctgctactttagggaattattgactgggctttggggttgaacttttttttttttaaagaaagaaaaagaaaccctgggatccatctgttttttttgttgttgttgttgtttttgttgttgttggtggtggtggtggtggtggttcttaatttttaatttagtttggggaagtagcttgtttttttttttataaatatgttgatttcttgtctttttttttttttatttcttactttcccatattaggggtgatagccaaaggggttctggtaagagaaagggggacaaacagaactggtaaagaggcccccctggctccaggcctgtccatcaggaagtaaattttacagggcaccaagctttgccccctaaaatcccttaggtgttctttgttcatgcaggcaggtttctgccgcatttgatgtggaggcagtgaagggcttgccctgctggcctctcatcccccttcttcccacaacccttgggcagggctggactcagtaattttgaggaaattgaagatgccatcttcccctgtgagtgacatgtctttaattttttaaaaaactactatttgaaaattggagggggaagaatgggaagggagttattgccaaatatgttaaatatgggttggggtgcttgtatatgtatcttcctcaatttccccataaatgaggtatctttttgtcacaccaaaatcaaggggtagggagagggaggaggttgcaaaaagccagatgtgggggaaaagtaacatcaacactgtcccatcctcagccctgaactagctaccatctgatcccctcagacattctcaggattttacaagactgtcagagtggggaacccctcccattaaagatccgggcaggactggggacaggttggaagtgtgatgggtgggggggtgggaggcatgggccgggggcagttctctcctcacttgtaaacttgtgtagtttcacagaaaaaaaacaaaatgcagttttaaataaagaaatttcttttttccctgggaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:5089 -> Molecular function: GO:0003682 [chromatin binding] evidence: IEA GeneID:5089 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA GeneID:5089 -> Molecular function: GO:0008134 [transcription factor binding] evidence: IPI GeneID:5089 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA GeneID:5089 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA GeneID:5089 -> Biological process: GO:0009954 [proximal/distal pattern formation] evidence: IEA GeneID:5089 -> Biological process: GO:0030326 [embryonic limb morphogenesis] evidence: IEA GeneID:5089 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IEA GeneID:5089 -> Cellular component: GO:0005634 [nucleus] evidence: IDA GeneID:5089 -> Cellular component: GO:0005667 [transcription factor complex] evidence: IEA
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