2025-05-09 20:12:56, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001189 2241 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens NK3 homeobox 2 (NKX3-2), mRNA. ACCESSION NM_001189 VERSION NM_001189.3 GI:155030212 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 2241) AUTHORS Choi,S.W., Jeong,D.U., Kim,J.A., Lee,B., Joeng,K.S., Long,F. and Kim,D.W. TITLE Indian Hedgehog signalling triggers Nkx3.2 protein degradation during chondrocyte maturation JOURNAL Biochem. J. 443 (3), 789-798 (2012) PUBMED 22507129 REMARK GeneRIF: Ihh-induced Nkx3.2 degradation requires Wnt5a, which is capable of triggering Nkx3.2 degradation REFERENCE 2 (bases 1 to 2241) AUTHORS Yong,Y., Choi,S.W., Choi,H.J., Nam,H.W., Kim,J.A., Jeong,D.U., Kim,D.Y., Kim,Y.S. and Kim,D.W. TITLE Exogenous signal-independent nuclear IkappaB kinase activation triggered by Nkx3.2 enables constitutive nuclear degradation of IkappaB-alpha in chondrocytes JOURNAL Mol. Cell. Biol. 31 (14), 2802-2816 (2011) PUBMED 21606193 REMARK GeneRIF: Data show that IkappaB kinase beta (IKKbeta) can be activated in the nucleus by Nkx3.2 in the absence of exogenous IKK-activating signals, allowing constitutive nuclear degradation of IkappaB-alpha. REFERENCE 3 (bases 1 to 2241) AUTHORS Hellemans,J., Simon,M., Dheedene,A., Alanay,Y., Mihci,E., Rifai,L., Sefiani,A., van Bever,Y., Meradji,M., Superti-Furga,A. and Mortier,G. TITLE Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia JOURNAL Am. J. Hum. Genet. 85 (6), 916-922 (2009) PUBMED 20004766 REMARK GeneRIF: NKX3-2 plays an important role in endochondral ossification of both the axial and appendicular skeleton in humans REFERENCE 4 (bases 1 to 2241) AUTHORS Rodrigo,I., Bovolenta,P., Mankoo,B.S. and Imai,K. TITLE Meox homeodomain proteins are required for Bapx1 expression in the sclerotome and activate its transcription by direct binding to its promoter JOURNAL Mol. Cell. Biol. 24 (7), 2757-2766 (2004) PUBMED 15024065 REMARK GeneRIF: Data show that Meox1 activates the Bapx1 promoter in a dose-dependent manner and that this activity is enhanced in the presence of Pax1 and/or Pax9. REFERENCE 5 (bases 1 to 2241) AUTHORS Tribioli,C. and Lufkin,T. TITLE Molecular cloning, chromosomal mapping and developmental expression of BAPX1, a novel human homeobox-containing gene homologous to Drosophila bagpipe JOURNAL Gene 203 (2), 225-233 (1997) PUBMED 9426254 REFERENCE 6 (bases 1 to 2241) AUTHORS Yoshiura,K.I. and Murray,J.C. TITLE Sequence and chromosomal assignment of human BAPX1, a bagpipe-related gene, to 4p16.1: a candidate gene for skeletal dysplasia JOURNAL Genomics 45 (2), 425-428 (1997) PUBMED 9344671 REFERENCE 7 (bases 1 to 2241) AUTHORS Tribioli,C., Frasch,M. and Lufkin,T. TITLE Bapx1: an evolutionary conserved homologue of the Drosophila bagpipe homeobox gene is expressed in splanchnic mesoderm and the embryonic skeleton JOURNAL Mech. Dev. 65 (1-2), 145-162 (1997) PUBMED 9256352 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC111966.1 and AC006445.11. This sequence is a reference standard in the RefSeqGene project. On Aug 10, 2007 this sequence version replaced gi:25121985. Summary: This gene encodes a member of the NK family of homeobox-containing proteins. The encoded protein may play a role in skeletal development. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments. ##Evidence-Data-START## Transcript exon combination :: AF009801.1, BC111966.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025087, ERS025088 [ECO:0000348] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-1111 BC111966.1 1-1111 1112-2241 AC006445.11 110916-112045 FEATURES Location/Qualifiers source 1..2241 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="4" /map="4p16.3" gene 1..2241 /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /note="NK3 homeobox 2" /db_xref="GeneID:579" /db_xref="HGNC:951" /db_xref="HPRD:09075" /db_xref="MIM:602183" STS 1..1111 /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /db_xref="UniSTS:490189" exon 1..542 /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /inference="alignment:Splign:1.39.8" variation complement(46) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="g" /replace="t" /db_xref="dbSNP:369274169" variation complement(67) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="a" /replace="c" /db_xref="dbSNP:138460070" STS 77..1128 /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /db_xref="UniSTS:481599" CDS 77..1078 /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /note="homeobox protein NK-3 homolog B; bagpipe homeobox protein homolog 1" /codon_start=1 /product="homeobox protein Nkx-3.2" /protein_id="NP_001180.1" /db_xref="GI:4502365" /db_xref="CCDS:CCDS3410.1" /db_xref="GeneID:579" /db_xref="HGNC:951" /db_xref="HPRD:09075" /db_xref="MIM:602183" /translation="
MAVRGANTLTSFSIQAILNKKEERGGLAAPEGRPAPGGTAASVAAAPAVCCWRLFGERDAGALGGAEDSLLASPAGTRTAAGRTAESPEGWDSDSALSEENESRRRCADARGASGAGLAGGSLSLGQPVCELAASKDLEEEAAGRSDSEMSASVSGDRSPRTEDDGVGPRGAHVSALCSGAGGGGGSGPAGVAEEEEEPAAPKPRKKRSRAAFSHAQVFELERRFNHQRYLSGPERADLAASLKLTETQVKIWFQNRRYKTKRRQMAADLLASAPAAKKVAVKVLVRDDQRQYLPGEVLRPPSLLPLQPSYYYPYYCLPGWALSTCAAAAGTQ
" misc_feature 713..871 /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /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(713..715,764..766,782..784,821..823,827..832, 839..844,848..856,860..865) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28970" misc_feature order(830..832,839..844,851..853) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:28970" variation complement(105) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="a" /replace="c" /db_xref="dbSNP:369239936" variation complement(109) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="c" /replace="t" /db_xref="dbSNP:117393870" variation complement(158) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="" /replace="g" /db_xref="dbSNP:34942446" variation complement(184) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="c" /replace="t" /db_xref="dbSNP:200291862" variation complement(211) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="a" /replace="g" /db_xref="dbSNP:371388996" variation complement(212) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="g" /replace="t" /db_xref="dbSNP:368562579" variation complement(224) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="g" /replace="t" /db_xref="dbSNP:371597026" variation complement(266) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="c" /replace="g" /db_xref="dbSNP:202195290" variation complement(280) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="a" /replace="c" /db_xref="dbSNP:201112176" variation complement(300) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="c" /replace="t" /db_xref="dbSNP:374854852" variation complement(311) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="a" /replace="t" /db_xref="dbSNP:200167000" variation complement(323) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="a" /replace="c" /db_xref="dbSNP:9684692" variation complement(349) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="g" /replace="t" /db_xref="dbSNP:201772546" variation complement(367) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="c" /replace="g" /db_xref="dbSNP:112448315" variation complement(399) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="c" /replace="g" /db_xref="dbSNP:202191746" variation complement(427) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="c" /replace="g" /db_xref="dbSNP:145908097" variation complement(452) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="a" /replace="g" /db_xref="dbSNP:368263938" variation complement(505) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="a" /replace="g" /db_xref="dbSNP:10032202" variation complement(515) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="g" /replace="t" /db_xref="dbSNP:370578004" exon 543..2241 /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /inference="alignment:Splign:1.39.8" variation complement(569) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="c" /replace="g" /db_xref="dbSNP:61795263" variation complement(615) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="a" /replace="g" /db_xref="dbSNP:199921924" variation complement(675) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="c" /replace="t" /db_xref="dbSNP:377066284" variation complement(710) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="g" /replace="t" /db_xref="dbSNP:372506158" variation complement(733) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="c" /replace="g" /db_xref="dbSNP:371570785" variation complement(744) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="a" /replace="g" /db_xref="dbSNP:376860038" variation complement(918) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="a" /replace="c" /db_xref="dbSNP:373154511" variation complement(987) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="c" /replace="t" /db_xref="dbSNP:201832139" variation complement(994) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="a" /replace="t" /db_xref="dbSNP:200958836" variation complement(995) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="c" /replace="g" /db_xref="dbSNP:141572096" variation complement(1018) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="c" /replace="g" /db_xref="dbSNP:111283169" variation complement(1063) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="c" /replace="t" /db_xref="dbSNP:144770764" variation complement(1160) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="c" /replace="g" /db_xref="dbSNP:374816985" variation complement(1173) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="a" /replace="c" /db_xref="dbSNP:191302851" variation complement(1254) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="c" /replace="t" /db_xref="dbSNP:114089334" variation complement(1358) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="a" /replace="g" /db_xref="dbSNP:186403807" variation complement(1364) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="g" /replace="t" /db_xref="dbSNP:180830199" variation complement(1435) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="a" /replace="c" /db_xref="dbSNP:189823186" variation complement(1448) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="c" /replace="t" /db_xref="dbSNP:186240926" variation complement(1518) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="c" /replace="t" /db_xref="dbSNP:113707415" variation complement(1533) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="a" /replace="g" /db_xref="dbSNP:182009909" variation complement(1570) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="g" /replace="t" /db_xref="dbSNP:77330525" variation complement(1571) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="a" /replace="g" /db_xref="dbSNP:145749128" variation complement(1604) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="a" /replace="g" /db_xref="dbSNP:367990237" variation complement(1625) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="a" /replace="g" /db_xref="dbSNP:141974005" variation complement(1685) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="c" /replace="g" /db_xref="dbSNP:189366144" variation complement(1808) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="c" /replace="t" /db_xref="dbSNP:4698712" variation complement(1811) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="c" /replace="t" /db_xref="dbSNP:3733554" variation complement(1825) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="a" /replace="c" /db_xref="dbSNP:79270590" variation complement(1862) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="a" /replace="g" /db_xref="dbSNP:61795262" variation complement(1947) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="a" /replace="g" /db_xref="dbSNP:370696974" variation complement(2021) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="c" /replace="t" /db_xref="dbSNP:3822226" variation complement(2024) /gene="NKX3-2" /gene_synonym="BAPX1; NKX3.2; NKX3B; SMMD" /replace="c" /replace="t" /db_xref="dbSNP:111445770" ORIGIN
ggcgctctctgtcccgctcggagctgctcggcgccccagctgcccgccccgccggccgctcctgcccgcggcgcagatggctgtgcgcggcgccaacaccttgacgtccttctccatccaggcgatcctcaacaagaaagaggagcgcggcgggctggccgcgccagaggggcgcccggcgcccgggggcacagcggcatcggtggccgcggctcccgctgtctgctgttggcggctctttggggagagggacgcgggcgcgttggggggcgccgaggactctctgctggcgtctcctgccggtaccagaacagctgcggggcggactgcggagagcccggaaggctgggactcggactccgcgctcagcgaggagaacgagagcaggcggcgctgcgcggacgcgcggggggccagcggggccggccttgcggggggatccttgagcctcggccagccggtctgtgagctggccgcttccaaagacctagaggaggaagccgcgggccggagcgacagcgagatgtccgccagcgtctcaggcgaccgcagcccaaggaccgaggacgacggtgttggccccagaggtgcacacgtgtccgcgctgtgcagcggggccggcggcgggggcggcagcgggccggcaggcgtcgcggaggaggaggaggagccggcggcgcccaagccacgcaagaagcgctcgcgggccgctttctcccacgcgcaggtcttcgagctggagcgccgctttaaccaccagcgctacctgtccgggcccgagcgcgcagacctggccgcgtcgctgaagctcaccgagacgcaggtgaaaatctggttccagaaccgtcgctacaagacaaagcgccggcagatggcagccgacctgctggcctcggcgcccgccgccaagaaggtggccgtaaaggtgctggtgcgcgacgaccagagacaatacctgcccggcgaagtgctgcggccaccctcgcttctgccactgcagccctcctactattacccgtactactgcctcccaggctgggcgctctccacctgcgcagctgccgcaggcacccagtgaacccgcttgggctgaggcagcgagtgattcccgcgctccggctccggaccggcgctgacagctgtaggctgtagcctgcacggggcgccccgccaaggaggcacctggaggtgaaacccagctccagctcccgttagccaggacttgtcccctggcagctgggctgagtctgccctgagggggcgcctttttctaatttgaacagaggcaccctatggcctaggggccctgatcgcccacctgcctggaagcccctgggctctatttattatcatgacaatgttggaattaaattttgattcgaatatgtctgcctgggggtggggttttccctgagcggcaactcctggagaccacatagcctgaatcctcagaatttcaggcctgctgggagctttctgcactaggccacactagttcatggtatccatgctaccaatctatgtgtatctacatatcttttatttttggaaattgcatttgtaaccaaggggtgcgaaaccctggcagtcccaggcagcaccaggccaggggttgatttgaaacgtgaaggattgggttttcaggccctctgctccacccctcctgtgtgtcagagctagggtgggggtgcccgattcgggtgctgaatgtaaggaggggagcctccaagtgtggtgcaagccgggggtctccacatcttccttctctgaagtccaggtacctgcacaagcaggaagcgcctgggagtcccggaaggaggagagcgcacacccaggcagccctctgcggaaactttccttggtttctttttatttgtgtaaaggaggttaagacgtgtcgcacttttcagttgtttgtattcaaatgacgattatttttctactcaatgtgaatatccctggccagcctttccacggcgcccaccgcagtgccgctgcctggccctcagtgtctaccttctgccctctgcgactccagtgctctggcccgggactcccctatccgcccctcacttacccttaaacaggtgatcccacctgtcttgtcaacctcgccgcttttcgcctccttaatggcactgtgcactcaactagagtattaactgtaaaaagatttgtgaagtttggaagctctattcgctgtattttttctttaatttataaacttttagtttaacatgc
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:579 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA GeneID:579 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA GeneID:579 -> Biological process: GO:0001501 [skeletal system development] evidence: TAS GeneID:579 -> Biological process: GO:0006366 [transcription from RNA polymerase II promoter] evidence: TAS GeneID:579 -> Biological process: GO:0007368 [determination of left/right symmetry] evidence: IEA GeneID:579 -> Biological process: GO:0031016 [pancreas development] evidence: IEA GeneID:579 -> Biological process: GO:0032331 [negative regulation of chondrocyte differentiation] evidence: ISS GeneID:579 -> Biological process: GO:0042474 [middle ear morphogenesis] evidence: IEA GeneID:579 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: IEA GeneID:579 -> Biological process: GO:0048536 [spleen development] evidence: IEA GeneID:579 -> Biological process: GO:0048645 [organ formation] evidence: IEA GeneID:579 -> Biological process: GO:0048705 [skeletal system morphogenesis] evidence: IEA GeneID:579 -> Biological process: GO:0048706 [embryonic skeletal system development] evidence: IEA GeneID:579 -> Biological process: GO:0060576 [intestinal epithelial cell development] evidence: IEA GeneID:579 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
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