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2024-04-20 17:02:08, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_016307               1327 bp    mRNA    linear   PRI 18-APR-2013
DEFINITION  Homo sapiens paired related homeobox 2 (PRRX2), mRNA.
ACCESSION   NM_016307
VERSION     NM_016307.3  GI:38505203
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 1327)
  AUTHORS   Nagy,P., Karton,A., Betz,A., Peskin,A.V., Pace,P., O'Reilly,R.J.,
            Hampton,M.B., Radom,L. and Winterbourn,C.C.
  TITLE     Model for the exceptional reactivity of peroxiredoxins 2 and 3 with
            hydrogen peroxide: a kinetic and computational study
  JOURNAL   J. Biol. Chem. 286 (20), 18048-18055 (2011)
   PUBMED   21385867
  REMARK    GeneRIF: Model for the exceptional reactivity of peroxiredoxins 2
            and 3 with hydrogen peroxide: a kinetic and computational study.
REFERENCE   2  (bases 1 to 1327)
  AUTHORS   Eriksson,N., Macpherson,J.M., Tung,J.Y., Hon,L.S., Naughton,B.,
            Saxonov,S., Avey,L., Wojcicki,A., Pe'er,I. and Mountain,J.
  TITLE     Web-based, participant-driven studies yield novel genetic
            associations for common traits
  JOURNAL   PLoS Genet. 6 (6), E1000993 (2010)
   PUBMED   20585627
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1327)
  AUTHORS   Jugessur,A., Shi,M., Gjessing,H.K., Lie,R.T., Wilcox,A.J.,
            Weinberg,C.R., Christensen,K., Boyles,A.L., Daack-Hirsch,S.,
            Nguyen,T.T., Christiansen,L., Lidral,A.C. and Murray,J.C.
  TITLE     Maternal genes and facial clefts in offspring: a comprehensive
            search for genetic associations in two population-based cleft
            studies from Scandinavia
  JOURNAL   PLoS ONE 5 (7), E11493 (2010)
   PUBMED   20634891
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1327)
  AUTHORS   Tokutomi,Y., Araki,N., Kataoka,K., Yamamoto,E. and Kim-Mitsuyama,S.
  TITLE     Oxidation of Prx2 and phosphorylation of GRP58 by angiotensin II in
            human coronary smooth muscle cells identified by 2D-DIGE analysis
  JOURNAL   Biochem. Biophys. Res. Commun. 364 (4), 822-830 (2007)
   PUBMED   17964282
  REMARK    GeneRIF: Valsartan, a selective Ang II type 1 (AT1) receptor
            blocker, and N-acetylcysteine, an antioxidant, inhibited both of
            these modifications, indicating the contribution of AT1 receptor
            and reactive oxygen species to oxidation of Prx2.
REFERENCE   5  (bases 1 to 1327)
  AUTHORS   Wissmuller,S., Kosian,T., Wolf,M., Finzsch,M. and Wegner,M.
  TITLE     The high-mobility-group domain of Sox proteins interacts with
            DNA-binding domains of many transcription factors
  JOURNAL   Nucleic Acids Res. 34 (6), 1735-1744 (2006)
   PUBMED   16582099
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1327)
  AUTHORS   Gervais,C., Mauvieux,L., Perrusson,N., Helias,C., Struski,S.,
            Leymarie,V., Lioure,B. and Lessard,M.
  TITLE     A new translocation t(9;11)(q34;p15) fuses NUP98 to a novel
            homeobox partner gene, PRRX2, in a therapy-related acute myeloid
            leukemia
  JOURNAL   Leukemia 19 (1), 145-148 (2005)
   PUBMED   15496970
REFERENCE   7  (bases 1 to 1327)
  AUTHORS   Scott,K.K., Norris,R.A., Potter,S.S., Norrington,D.W., Baybo,M.A.,
            Hicklin,D.M. and Kern,M.J.
  TITLE     GeneChip microarrays facilitate identification of Protease Nexin-1
            as a target gene of the Prx2 (S8) homeoprotein
  JOURNAL   DNA Cell Biol. 22 (2), 95-105 (2003)
   PUBMED   12713735
REFERENCE   8  (bases 1 to 1327)
  AUTHORS   Jones,F.S., McKean,D.M., Meech,R., Edelman,D.B., Oakey,R.J. and
            Jones,P.L.
  TITLE     Regulation of vascular smooth muscle cell growth and adhesion by
            paired-related homeobox genes
  JOURNAL   Chest 121 (3 SUPPL), 89S-90S (2002)
   PUBMED   11893718
  REMARK    GeneRIF: Encodes homeobox transcription factors that are expressed
            during vasculogenesis.
REFERENCE   9  (bases 1 to 1327)
  AUTHORS   Norris,R.A., Scott,K.K., Moore,C.S., Stetten,G., Brown,C.R.,
            Jabs,E.W., Wulfsberg,E.A., Yu,J. and Kern,M.J.
  TITLE     Human PRRX1 and PRRX2 genes: cloning, expression, genomic
            localization, and exclusion as disease genes for Nager syndrome
  JOURNAL   Mamm. Genome 11 (11), 1000-1005 (2000)
   PUBMED   11063257
REFERENCE   10 (bases 1 to 1327)
  AUTHORS   Stelnicki,E.J., Arbeit,J., Cass,D.L., Saner,C., Harrison,M. and
            Largman,C.
  TITLE     Modulation of the human homeobox genes PRX-2 and HOXB13 in scarless
            fetal wounds
  JOURNAL   J. Invest. Dermatol. 111 (1), 57-63 (1998)
   PUBMED   9665387
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC014645.1.
            On Nov 25, 2003 this sequence version replaced gi:12707581.
            
            Summary: The DNA-associated protein encoded by this gene is a
            member of the paired family of homeobox proteins. Expression is
            localized to proliferating fetal fibroblasts and the developing
            dermal layer, with downregulated expression in adult skin.
            Increases in expression of this gene during fetal but not adult
            wound healing suggest a possible role in mechanisms that control
            mammalian dermal regeneration and prevent formation of scar
            response to wounding. The expression patterns provide evidence
            consistent with a role in fetal skin development and a possible
            role in cellular proliferation. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC014645.1, AF061970.1 [ECO:0000332]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1327              BC014645.1         1-1327
FEATURES             Location/Qualifiers
     source          1..1327
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.1"
     gene            1..1327
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /note="paired related homeobox 2"
                     /db_xref="GeneID:51450"
                     /db_xref="HGNC:21338"
                     /db_xref="HPRD:05244"
                     /db_xref="MIM:604675"
     exon            1..486
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /inference="alignment:Splign:1.39.8"
     variation       25
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:368393993"
     variation       77
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:115147301"
     CDS             228..989
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /note="paired-like homeodomain protein PRX2; PRX-2;
                     paired-related homeobox protein 2"
                     /codon_start=1
                     /product="paired mesoderm homeobox protein 2"
                     /protein_id="NP_057391.1"
                     /db_xref="GI:7706659"
                     /db_xref="CCDS:CCDS6926.1"
                     /db_xref="GeneID:51450"
                     /db_xref="HGNC:21338"
                     /db_xref="HPRD:05244"
                     /db_xref="MIM:604675"
                     /translation="
MDSAAAAFALDKPALGPGPPPPPPALGPGDCAQARKNFSVSHLLDLEEVAAAGRLAARPGARAEAREGAAREPSGGSSGSEAAPQDGECPSPGRGSAAKRKKKQRRNRTTFNSSQLQALERVFERTHYPDAFVREELARRVNLSEARVQVWFQNRRAKFRRNERAMLASRSASLLKSYSQEAAIEQPVAPRPTALSPDYLSWTASSPYSTVPPYSPGSSGPATPGVNMANSIASLRLKAKEFSLHHSQVPTVN
"
     misc_feature    552..716
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /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(552..554,558..560,609..611,627..629,666..668,
                     672..677,684..689,693..701,705..710)
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(555..557,675..677,684..689,696..698)
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     misc_feature    906..962
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /note="OAR domain; Region: OAR; pfam03826"
                     /db_xref="CDD:146451"
     misc_feature    915..956
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99811.2);
                     Region: OAR"
     exon            487..674
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /inference="alignment:Splign:1.39.8"
     variation       521
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370204978"
     variation       524
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:35865713"
     variation       530
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201665194"
     variation       534
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:201179051"
     variation       539
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:149764500"
     variation       548
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376858807"
     variation       568
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370267786"
     variation       589
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:373913153"
     variation       632
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199887986"
     variation       653
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376061825"
     variation       660
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:202114136"
     exon            675..853
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /inference="alignment:Splign:1.39.8"
     variation       741
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:145779250"
     variation       742
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:140591214"
     variation       745
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:144448846"
     variation       746
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146603979"
     variation       793
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:141327412"
     variation       810
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:143393943"
     variation       814
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201217720"
     variation       823
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:148368723"
     variation       827
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:372702758"
     variation       829
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:140111310"
     exon            854..1311
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /inference="alignment:Splign:1.39.8"
     variation       883
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150293718"
     variation       923
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138042846"
     variation       933
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:202233874"
     variation       934
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201083423"
     variation       944
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200632042"
     variation       979
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:143523637"
     variation       980
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373951160"
     variation       1001
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:28428946"
     variation       1014
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370487741"
     STS             1034..1245
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /standard_name="STS-U81600"
                     /db_xref="UniSTS:5490"
     variation       1035
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:116237845"
     variation       1065
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373341887"
     variation       1090
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142417382"
     variation       1123
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:2241898"
     variation       1140
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1051445"
     variation       1147
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370014709"
     variation       1151
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:28441121"
     variation       1256
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:73627671"
     polyA_signal    1284..1289
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
     variation       1293..1294
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:373156929"
     variation       1300..1301
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace=""
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:36093277"
     variation       1307
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:10988483"
     polyA_site      1311
                     /gene="PRRX2"
                     /gene_synonym="PMX2; PRX2"
ORIGIN      
cgcagcgcgtgcaccagcggctccggagcgagcggccgtggctgagaaggggagggcggaaagtttgtttccccgacgtcagcgccgggcgggccgcgaggctaggaggcggcgggagctgggcagagcgcggggcggccggggctctcgctccgacccgcgcccgcgacccttcctgggacccgagcccgagacccccgccggcccccccggggccgctcgcgggcatggacagcgcggccgccgccttcgccctggacaagccggcgctgggcccggggccgccgccgcctccacccgcgctggggcccggcgactgcgcccaggcgcgcaagaacttctcggtgagccacctcctggacctggaagaggtggcggcggccgggcggctggcggcgcgccccggggccagggccgaggcgcgggagggcgcagcacgggagccgtccgggggcagcagcggcagcgaggcggcgccgcaggatggtgagtgtcccagcccggggcgcggtagcgccgccaagcggaagaagaagcagcggcggaaccgcaccacgttcaacagcagccaactgcaggcgctggagcgcgtgttcgagcgcacgcactaccccgacgcctttgtgcgcgaggagcttgcccggcgcgtcaacctcagcgaggcgcgcgttcaggtctggtttcagaaccgccgcgccaagttccgcaggaatgaaagggccatgctggccagccgctctgcctcgctgctcaagtcctacagccaggaggccgccatcgagcagcccgtggctccccggcccaccgccctgagtccagattatctctcctggacagcctcgtccccctacagcacagtgccaccctacagccctgggagctcaggccccgcaaccccaggggtcaacatggccaacagcatcgccagcctccgtctcaaggccaaggagttcagcctgcaccacagccaggtgcctacggtgaactgaagtccagtcccaccaggacccagacgcctccctgggtggacagcaatagaaaagggggcagacgcccaggaagtgaccttctcctggatgagctctcctggcccgtctgtccagcctggactcccgagcccacgaggctgttgaggcccctgcagccgggcccagctcttctgtccttggccaccagagactgcagcccacaacccttggaggggttgggccggaaggtggaagagcctgccaaggacctcatttagtttgtgtattaaaaccaaaaagcttttgtctttaagaaataaaaccatttttttaagccccaaaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:51450 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: NAS
            GeneID:51450 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
            GeneID:51450 -> Biological process: GO:0002053 [positive regulation of mesenchymal cell proliferation] evidence: IEA
            GeneID:51450 -> Biological process: GO:0006355 [regulation of transcription, DNA-dependent] evidence: NAS
            GeneID:51450 -> Biological process: GO:0030326 [embryonic limb morphogenesis] evidence: IEA
            GeneID:51450 -> Biological process: GO:0042472 [inner ear morphogenesis] evidence: IEA
            GeneID:51450 -> Biological process: GO:0042474 [middle ear morphogenesis] evidence: IEA
            GeneID:51450 -> Biological process: GO:0045880 [positive regulation of smoothened signaling pathway] evidence: IEA
            GeneID:51450 -> Biological process: GO:0048701 [embryonic cranial skeleton morphogenesis] evidence: IEA
            GeneID:51450 -> Biological process: GO:0048844 [artery morphogenesis] evidence: IEA
            GeneID:51450 -> Biological process: GO:0051216 [cartilage development] evidence: IEA
            GeneID:51450 -> Cellular component: GO:0000228 [nuclear chromosome] evidence: NAS

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