2025-05-09 19:58:14, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_033267 3070 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 1, mRNA. ACCESSION NM_033267 XM_098392 VERSION NM_033267.4 GI:197100882 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 3070) 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 3070) 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 3070) 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 3070) 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 3070) 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, AB188492.1, AI928035.1, AI131378.1, AY335940.1 and BM969863.1. On Aug 20, 2008 this sequence version replaced gi:142382390. 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 (1) represents the longer transcript. ##Evidence-Data-START## Transcript exon combination :: AB188492.1 [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 1-1681 BC065189.1 8-1688 1682-1899 AB188492.1 1685-1902 1900-2039 AI928035.1 402-541 2040-2458 AI131378.1 1-419 c 2459-3050 AY335940.1 1473-2064 3051-3070 BM969863.1 1-20 c FEATURES Location/Qualifiers source 1..3070 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="5" /map="5p15.33" gene 1..3070 /gene="IRX2" /gene_synonym="IRXA2" /note="iroquois homeobox 2" /db_xref="GeneID:153572" /db_xref="HGNC:14359" /db_xref="HPRD:09368" /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_150366.1" /db_xref="GI:39930475" /db_xref="CCDS:CCDS3868.1" /db_xref="GeneID:153572" /db_xref="HGNC:14359" /db_xref="HPRD:09368" /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..3057 /gene="IRX2" /gene_synonym="IRXA2" /inference="alignment:Splign:1.39.8" STS 2631..2862 /gene="IRX2" /gene_synonym="IRXA2" /standard_name="C5orf38" /db_xref="UniSTS:505825" polyA_signal 3032..3036 /gene="IRX2" /gene_synonym="IRXA2" polyA_signal 3043..3047 /gene="IRX2" /gene_synonym="IRXA2" ORIGIN
aaaccccgaccgccggcctggcgcgcggctgcgcccaccggctccgcgctgctgccgccgccaccgccaccccgccgccgccccggcccgcgggccgcccaggctagtacccgggccggcctgcctccgccggccgtccgggtgcccgccgccgcgccgcgccccggccgggcgtggatggagggcgccgcgcgccctgcccgctgctcggcgtgacgcgggccccgcgccccgcgcccaccatgtcctacccgcagggctacctgtaccaggcgcccggctcgctggcgctctactcgtgcccggcctacggcgcgtcggctttggcggctccgcgcagcgaggagctggcgcgctcggcgtcgggctcggcgttcagcccctacccgggctcggcggccttcacggcgcaggcggccaccggcttcgggagcccgctgcagtactcggccgacgccgccgccgccgccgccggcttcccgtcctacatgggcgcaccctacgacgcgcacaccaccggcatgaccggcgccatcagctaccacccgtacggcagcgcggcctacccgtaccagctcaacgaccccgcgtaccgcaagaacgccacgcgggacgccacggccactctcaaggcctggctcaacgagcaccgcaagaacccctaccccaccaagggcgagaagatcatgctagccatcatcaccaagatgaccctcacccaggtctccacctggttcgccaacgcgcgccggcgcctcaagaaggagaacaagatgacctgggccccgagaaacaaaagcgaagatgaggacgaggacgagggcgacgctaccagaagcaaggacgagagtcccgacaaggcgcaggagggcacggagacctcggcagaggacgaagggatcagcctgcacgtggactcgctcacggatcactcgtgctcggccgagtcggacggggagaagcttccgtgccgcgccggggaccccctgtgcgaatcgggctcggagtgcaaggacaagtatgacgacctggaggacgacgaggacgacgacgaggagggcgagcggggcctggcgccgcccaagcccgtgacctcgtcgccgcttaccggcttggaggcgccgctgctgagccccccgcccgaggccgcgccccgcggtggccgcaagacgccccagggcagccggacgtctccgggcgcgccgccccccgccagcaagcccaagctgtggtcgctggccgagatcgccacgtcggacctcaagcagccgagcctgggcccgggctgcgggccaccggggctgcccgcggccgccgcgccggcctcaaccggggcaccgccaggaggctcgccctaccctgcctcgccgctgctgggccgccccctctactacacgtcgcccttctacggcaactacacaaactacgggaacttgaacgcggcgctgcagggccagggtctcctgcggtacaactctgcggccgcggcccccggcgaggccctgcacaccgcgccaaaggcggccagcgacgcgggcaaggcgggcgcgcacccgctcgagtcccactaccggtccccgggcggcggctacgagcccaagaaagatgccagcgagggctgcaccgtggttggcgggggcgtccagccctacctatagaagggccgagcacagcaatgcaagtaagtgggcaccctggtgcttcccagaccctgtggagcctcccagcaccaacttgcttaatgtgtttttcttgcttctggtcatggggttagaagacagagcatttcaatcttgtccagcttttctttccttaagggggaaactatattttctgttttatagattccctctttttggcacaagttctatcactcctttacctagggaaggaaaaaaaaaatatatatatatatgtgtgtgtgtgtgtgtgtaatatatatatgtatatatatagtacatgtatatatatagtacatgtgtatatatatattacacactactgttgttttcttttgaaacaatagattattaaaatctgggcatttatatgcaatttagagccatttttactatgctagacacataatagacacatgctttgatgagcttgggctaccaaaacttggagtagcaaaaacctttatagatgatgtttgcaaaataagactgaagagacacgaggcgtactagtcttttatcagccctgtccaacctcccctccacccatgtccaagtggacaggactctgacattctcccggggctcacaacagtatctcaaaaaatatgttgctttgcaacgagtcagaattactaatcatagatcttgaagataagaaagatttggaaccacttcagatcaactcgtttttataatggtgttgttgtggaactgaaagattggggatgatttggttttttccttggtccacaggtaggtgtcacaattgctttgaaaaaaaaaaaaaaaaaaaagtcagcaggccattctctcttcccaagctcataaatttacagatacaacaaacagatgtctaaatccagaccacatcttgtgccactgtaaaagagaaggatccacacagcactgtcagcccacagactctaacaattggaacagactattgttggacatatgtgaatttgttggcatagtatagtttccccgatgtatgtgtgacttttgaaaacaatctgtttttctcaggatatcttgaattgatcacttcattgccacggtatatattctataggtgtgataggatttactgtaaagtttatttgtaaaagatgtacacagtagaaataaaacgtgatggaagaacttgagtacttcagaagtggaaacaaatttgatatttatttttataatgatataaagcttctagtaatttatgcaagttgtattgcaatggaatctaaactttttgtaaataaattctgcctggtttttatttgaacattgctggttatacaatctttgttggttgtttaacacgaattctttactaatttatatcttaaattgtaaataaaaacagactagtctacaataaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:153572 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA GeneID:153572 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA GeneID:153572 -> Biological process: GO:0072086 [specification of loop of Henle identity] evidence: IEA GeneID:153572 -> Biological process: GO:0072272 [proximal/distal pattern formation involved in metanephric nephron development] evidence: IEA GeneID:153572 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
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