GGRNA | NM_001134222.1

LOCUS       NM_001134222            2316 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2,
            mRNA.
ACCESSION   NM_001134222
VERSION     NM_001134222.1  GI:197100899
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 2316)
  AUTHORS   Kang,H., Wilson,C.S., Harvey,R.C., Chen,I.M., Murphy,M.H.,
            Atlas,S.R., Bedrick,E.J., Devidas,M., Carroll,A.J., Robinson,B.W.,
            Stam,R.W., Valsecchi,M.G., Pieters,R., Heerema,N.A., Hilden,J.M.,
            Felix,C.A., Reaman,G.H., Camitta,B., Winick,N., Carroll,W.L.,
            Dreyer,Z.E., Hunger,S.P. and Willman,C.L.
  TITLE     Gene expression profiles predictive of outcome and age in infant
            acute lymphoblastic leukemia: a Children's Oncology Group study
  JOURNAL   Blood 119 (8), 1872-1881 (2012)
   PUBMED   22210879
  REMARK    GeneRIF: Results revealed 3 genes highly predictive of event-free
            survival (EFS), beyond age and MLL status: FLT3, IRX2, and TACC2.
REFERENCE   2  (bases 1 to 2316)
  AUTHORS   Lam,C.Y., Tam,P.O., Fan,D.S., Fan,B.J., Wang,D.Y., Lee,C.W.,
            Pang,C.P. and Lam,D.S.
  TITLE     A genome-wide scan maps a novel high myopia locus to 5p15
  JOURNAL   Invest. Ophthalmol. Vis. Sci. 49 (9), 3768-3778 (2008)
   PUBMED   18421076
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (bases 1 to 2316)
  AUTHORS   Adamowicz,M., Radlwimmer,B., Rieker,R.J., Mertens,D.,
            Schwarzbach,M., Schraml,P., Benner,A., Lichter,P.,
            Mechtersheimer,G. and Joos,S.
  TITLE     Frequent amplifications and abundant expression of TRIO, NKD2, and
            IRX2 in soft tissue sarcomas
  JOURNAL   Genes Chromosomes Cancer 45 (9), 829-838 (2006)
   PUBMED   16752383
  REMARK    GeneRIF: IRX2 represents a candidate target of 5p amplifications in
            soft tissue sarcomas and might play a crucial role during the
            progression of this disease.
REFERENCE   4  (bases 1 to 2316)
  AUTHORS   Ogura,K., Matsumoto,K., Kuroiwa,A., Isobe,T., Otoguro,T.,
            Jurecic,V., Baldini,A., Matsuda,Y. and Ogura,T.
  TITLE     Cloning and chromosome mapping of human and chicken Iroquois (IRX)
            genes
  JOURNAL   Cytogenet. Cell Genet. 92 (3-4), 320-325 (2001)
   PUBMED   11435706
REFERENCE   5  (bases 1 to 2316)
  AUTHORS   Lewis,M.T., Ross,S., Strickland,P.A., Snyder,C.J. and Daniel,C.W.
  TITLE     Regulated expression patterns of IRX-2, an Iroquois-class homeobox
            gene, in the human breast
  JOURNAL   Cell Tissue Res. 296 (3), 549-554 (1999)
   PUBMED   10370142
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC065189.1, AY335940.1 and BM969863.1.
            
            Summary: IRX2 is a member of the Iroquois homeobox gene family.
            Members of this family appear to play multiple roles during pattern
            formation of vertebrate embryos.[supplied by OMIM, Apr 2004].
            
            Transcript Variant: This variant (2) differs in the 3' UTR,
            compared to variant 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY335940.1, BC065189.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025083, ERS025087 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1722              BC065189.1         8-1729
            1723-2296           AY335940.1         1491-2064
            2297-2316           BM969863.1         1-20                c
FEATURES             Location/Qualifiers
     source          1..2316
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p15.33"
     gene            1..2316
                     /gene="IRX2"
                     /gene_synonym="IRXA2"
                     /note="iroquois homeobox 2"
                     /db_xref="GeneID:153572"
                     /db_xref="HGNC:14359"
                     /db_xref="MIM:606198"
     exon            1..491
                     /gene="IRX2"
                     /gene_synonym="IRXA2"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    105..107
                     /gene="IRX2"
                     /gene_synonym="IRXA2"
                     /note="upstream in-frame stop codon"
     CDS             243..1658
                     /gene="IRX2"
                     /gene_synonym="IRXA2"
                     /note="iroquois homeobox protein 2; homeodomain protein
                     IRXA2"
                     /codon_start=1
                     /product="iroquois-class homeodomain protein IRX-2"
                     /protein_id="NP_001127694.1"
                     /db_xref="GI:197100900"
                     /db_xref="CCDS:CCDS3868.1"
                     /db_xref="GeneID:153572"
                     /db_xref="HGNC:14359"
                     /db_xref="MIM:606198"
                     /translation="

MSYPQGYLYQAPGSLALYSCPAYGASALAAPRSEELARSASGSAFSPYPGSAAFTAQAATGFGSPLQYSADAAAAAAGFPSYMGAPYDAHTTGMTGAISYHPYGSAAYPYQLNDPAYRKNATRDATATLKAWLNEHRKNPYPTKGEKIMLAIITKMTLTQVSTWFANARRRLKKENKMTWAPRNKSEDEDEDEGDATRSKDESPDKAQEGTETSAEDEGISLHVDSLTDHSCSAESDGEKLPCRAGDPLCESGSECKDKYDDLEDDEDDDEEGERGLAPPKPVTSSPLTGLEAPLLSPPPEAAPRGGRKTPQGSRTSPGAPPPASKPKLWSLAEIATSDLKQPSLGPGCGPPGLPAAAAPASTGAPPGGSPYPASPLLGRPLYYTSPFYGNYTNYGNLNAALQGQGLLRYNSAAAAPGEALHTAPKAASDAGKAGAHPLESHYRSPGGGYEPKKDASEGCTVVGGGVQPYL

"
     misc_feature    594..770
                     /gene="IRX2"
                     /gene_synonym="IRXA2"
                     /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(594..599,603..605,663..665,681..683,720..722,
                     726..731,738..743,747..755,759..764)
                     /gene="IRX2"
                     /gene_synonym="IRXA2"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(600..602,729..731,738..743,750..752)
                     /gene="IRX2"
                     /gene_synonym="IRXA2"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     misc_feature    798..800
                     /gene="IRX2"
                     /gene_synonym="IRXA2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (Q9BZI1.2); phosphorylation site"
     variation       359
                     /gene="IRX2"
                     /gene_synonym="IRXA2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:11539256"
     exon            492..897
                     /gene="IRX2"
                     /gene_synonym="IRXA2"
                     /inference="alignment:Splign:1.39.8"
     exon            898..1605
                     /gene="IRX2"
                     /gene_synonym="IRXA2"
                     /inference="alignment:Splign:1.39.8"
     exon            1606..1681
                     /gene="IRX2"
                     /gene_synonym="IRXA2"
                     /inference="alignment:Splign:1.39.8"
     exon            1682..2303
                     /gene="IRX2"
                     /gene_synonym="IRXA2"
                     /inference="alignment:Splign:1.39.8"
     STS             1877..2108
                     /gene="IRX2"
                     /gene_synonym="IRXA2"
                     /standard_name="C5orf38"
                     /db_xref="UniSTS:505825"
     polyA_signal    2278..2282
                     /gene="IRX2"
                     /gene_synonym="IRXA2"
     polyA_signal    2289..2293
                     /gene="IRX2"
                     /gene_synonym="IRXA2"
ORIGIN

aaaccccgaccgccggcctggcgcgcggctgcgcccaccggctccgcgctgctgccgccgccaccgccaccccgccgccgccccggcccgcgggccgcccaggctagtacccgggccggcctgcctccgccggccgtccgggtgcccgccgccgcgccgcgccccggccgggcgtggatggagggcgccgcgcgccctgcccgctgctcggcgtgacgcgggccccgcgccccgcgcccaccatgtcctacccgcagggctacctgtaccaggcgcccggctcgctggcgctctactcgtgcccggcctacggcgcgtcggctttggcggctccgcgcagcgaggagctggcgcgctcggcgtcgggctcggcgttcagcccctacccgggctcggcggccttcacggcgcaggcggccaccggcttcgggagcccgctgcagtactcggccgacgccgccgccgccgccgccggcttcccgtcctacatgggcgcaccctacgacgcgcacaccaccggcatgaccggcgccatcagctaccacccgtacggcagcgcggcctacccgtaccagctcaacgaccccgcgtaccgcaagaacgccacgcgggacgccacggccactctcaaggcctggctcaacgagcaccgcaagaacccctaccccaccaagggcgagaagatcatgctagccatcatcaccaagatgaccctcacccaggtctccacctggttcgccaacgcgcgccggcgcctcaagaaggagaacaagatgacctgggccccgagaaacaaaagcgaagatgaggacgaggacgagggcgacgctaccagaagcaaggacgagagtcccgacaaggcgcaggagggcacggagacctcggcagaggacgaagggatcagcctgcacgtggactcgctcacggatcactcgtgctcggccgagtcggacggggagaagcttccgtgccgcgccggggaccccctgtgcgaatcgggctcggagtgcaaggacaagtatgacgacctggaggacgacgaggacgacgacgaggagggcgagcggggcctggcgccgcccaagcccgtgacctcgtcgccgcttaccggcttggaggcgccgctgctgagccccccgcccgaggccgcgccccgcggtggccgcaagacgccccagggcagccggacgtctccgggcgcgccgccccccgccagcaagcccaagctgtggtcgctggccgagatcgccacgtcggacctcaagcagccgagcctgggcccgggctgcgggccaccggggctgcccgcggccgccgcgccggcctcaaccggggcaccgccaggaggctcgccctaccctgcctcgccgctgctgggccgccccctctactacacgtcgcccttctacggcaactacacaaactacgggaacttgaacgcggcgctgcagggccagggtctcctgcggtacaactctgcggccgcggcccccggcgaggccctgcacaccgcgccaaaggcggccagcgacgcgggcaaggcgggcgcgcacccgctcgagtcccactaccggtccccgggcggcggctacgagcccaagaaagatgccagcgagggctgcaccgtggttggcgggggcgtccagccctacctatagaagggccgagcacagcaatgcaagtaggtgtcacaattgctttgaaaaaaaaaaaaaaaaaaaagtcagcaggccattctctcttcccaagctcataaatttacagatacaacaaacagatgtctaaatccagaccacatcttgtgccactgtaaaagagaaggatccacacagcactgtcagcccacagactctaacaattggaacagactattgttggacatatgtgaatttgttggcatagtatagtttccccgatgtatgtgtgacttttgaaaacaatctgtttttctcaggatatcttgaattgatcacttcattgccacggtatatattctataggtgtgataggatttactgtaaagtttatttgtaaaagatgtacacagtagaaataaaacgtgatggaagaacttgagtacttcagaagtggaaacaaatttgatatttatttttataatgatataaagcttctagtaatttatgcaagttgtattgcaatggaatctaaactttttgtaaataaattctgcctggtttttatttgaacattgctggttatacaatctttgttggttgtttaacacgaattctttactaatttatatcttaaattgtaaataaaaacagactagtctacaataaaaaaaaaaaaaaa

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