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2025-05-09 19:26:44, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_006735 1791 bp mRNA linear PRI 07-JUL-2013 DEFINITION Homo sapiens homeobox A2 (HOXA2), mRNA. ACCESSION NM_006735 VERSION NM_006735.3 GI:37596298 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 1791) AUTHORS Monks,D.C., Jahangir,A., Shanske,A.L., Samanich,J., Morrow,B.E. and Babcock,M. TITLE Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia JOURNAL Int. J. Pediatr. Otorhinolaryngol. 74 (8), 878-882 (2010) PUBMED 20542577 REMARK GeneRIF: Lack of mutations in the coding region of HOXA2 among the sporadic microtia patients. REFERENCE 2 (bases 1 to 1791) AUTHORS Ester,A.R., Weymouth,K.S., Burt,A., Wise,C.A., Scott,A., Gurnett,C.A., Dobbs,M.B., Blanton,S.H. and Hecht,J.T. TITLE Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot JOURNAL Am. J. Med. Genet. A 149A (12), 2745-2752 (2009) PUBMED 19938081 REMARK GeneRIF: Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) REFERENCE 3 (bases 1 to 1791) AUTHORS Yerges LM, Klei L, Cauley JA, Roeder K, Kammerer CM, Moffett SP, Ensrud KE, Nestlerode CS, Marshall LM, Hoffman AR, Lewis C, Lang TF, Barrett-Connor E, Ferrell RE, Orwoll ES and Zmuda JM. CONSRTM MrOS Research Group TITLE High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men JOURNAL J. Bone Miner. Res. 24 (12), 2039-2049 (2009) PUBMED 19453261 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 4 (bases 1 to 1791) AUTHORS Alasti,F., Sadeghi,A., Sanati,M.H., Farhadi,M., Stollar,E., Somers,T. and Van Camp,G. TITLE A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family JOURNAL Am. J. Hum. Genet. 82 (4), 982-991 (2008) PUBMED 18394579 REMARK GeneRIF: A missense mutation in the HOXA2 in a consanguineous iranian family with bilateral microtia was reported. Erratum:[Am J Hum Genet. 2008 Sep;83(3):424] REFERENCE 5 (bases 1 to 1791) AUTHORS Kosaki,K., Kosaki,R., Suzuki,T., Yoshihashi,H., Takahashi,T., Sasaki,K., Tomita,M., McGinnis,W. and Matsuo,N. TITLE Complete mutation analysis panel of the 39 human HOX genes JOURNAL Teratology 65 (2), 50-62 (2002) PUBMED 11857506 REFERENCE 6 (bases 1 to 1791) AUTHORS Apiou,F., Flagiello,D., Cillo,C., Malfoy,B., Poupon,M.F. and Dutrillaux,B. TITLE Fine mapping of human HOX gene clusters JOURNAL Cytogenet. Cell Genet. 73 (1-2), 114-115 (1996) PUBMED 8646877 REFERENCE 7 (bases 1 to 1791) AUTHORS Scott,M.P. TITLE Vertebrate homeobox gene nomenclature JOURNAL Cell 71 (4), 551-553 (1992) PUBMED 1358459 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BF509655.1, AW292406.1, BE465040.1, AI581335.1 and AI796505.1. This sequence is a reference standard in the RefSeqGene project. On Oct 9, 2003 this sequence version replaced gi:24497510. Summary: In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: BC130571.1, BE465040.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025090, ERS025099 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-490 BF509655.1 1-490 c 491-609 AW292406.1 7-125 610-1091 BE465040.1 75-556 1092-1439 AI581335.1 1-348 c 1440-1791 AI796505.1 1-352 c FEATURES Location/Qualifiers source 1..1791 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="7" /map="7p15.2" gene 1..1791 /gene="HOXA2" /gene_synonym="HOX1K" /note="homeobox A2" /db_xref="GeneID:3199" /db_xref="HGNC:5103" /db_xref="HPRD:05252" /db_xref="MIM:604685" exon 1..666 /gene="HOXA2" /gene_synonym="HOX1K" /inference="alignment:Splign:1.39.8" STS 46..1522 /gene="HOXA2" /gene_synonym="HOX1K" /db_xref="UniSTS:486643" STS 113..351 /gene="HOXA2" /gene_synonym="HOX1K" /standard_name="REN100339" /db_xref="UniSTS:425136" STS 143..1470 /gene="HOXA2" /gene_synonym="HOX1K" /db_xref="UniSTS:491328" STS 241..1436 /gene="HOXA2" /gene_synonym="HOX1K" /db_xref="UniSTS:481967" STS 247..1741 /gene="HOXA2" /gene_synonym="HOX1K" /db_xref="UniSTS:494538" misc_feature 252..254 /gene="HOXA2" /gene_synonym="HOX1K" /note="upstream in-frame stop codon" CDS 276..1406 /gene="HOXA2" /gene_synonym="HOX1K" /note="homeobox protein Hox-1K" /codon_start=1 /product="homeobox protein Hox-A2" /protein_id="NP_006726.1" /db_xref="GI:10140847" /db_xref="CCDS:CCDS5403.1" /db_xref="GeneID:3199" /db_xref="HGNC:5103" /db_xref="HPRD:05252" /db_xref="MIM:604685" /translation="
MNYEFEREIGFINSQPSLAECLTSFPPVADTFQSSSIKTSTLSHSTLIPPPFEQTIPSLNPGSHPRHGAGGRPKPSPAGSRGSPVPAGALQPPEYPWMKEKKAAKKTALLPAAAAAATAAATGPACLSHKESLEIADGSGGGSRRLRTAYTNTQLLELEKEFHFNKYLCRPRRVEIAALLDLTERQVKVWFQNRRMKHKRQTQCKENQNSEGKCKSLEDSEKVEEDEEEKTLFEQALSVSGALLEREGYTFQQNALSQQQAPNGHNGDSQSFPVSPLTSNEKNLKHFQHQSPTVPNCLSTMGQNCGAGLNNDSPEALEVPSLQDFSVFSTDSCLQLSDAVSPSLPGSLDSPVDISADSLDFFTDTLTTIDLQHLNY
"
misc_feature 555..572
/gene="HOXA2"
/gene_synonym="HOX1K"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O43364.1);
Region: Antp-type hexapeptide"
misc_feature 705..878
/gene="HOXA2"
/gene_synonym="HOX1K"
/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(705..719,723..725,774..776,792..794,831..833,
837..842,849..854,858..866,870..875)
/gene="HOXA2"
/gene_synonym="HOX1K"
/note="DNA binding site [nucleotide binding]"
/db_xref="CDD:28970"
misc_feature order(711..713,720..722,840..842,849..854,861..863)
/gene="HOXA2"
/gene_synonym="HOX1K"
/note="specific DNA base contacts [nucleotide binding];
other site"
/db_xref="CDD:28970"
STS 328..402
/gene="HOXA2"
/gene_synonym="HOX1K"
/standard_name="Hoxa2"
/db_xref="UniSTS:536640"
STS 330..578
/gene="HOXA2"
/gene_synonym="HOX1K"
/standard_name="REN100338"
/db_xref="UniSTS:425135"
exon 667..1778
/gene="HOXA2"
/gene_synonym="HOX1K"
/inference="alignment:Splign:1.39.8"
STS 710..959
/gene="HOXA2"
/gene_synonym="HOX1K"
/standard_name="REN100333"
/db_xref="UniSTS:425130"
STS 717..1114
/gene="HOXA2"
/gene_synonym="HOX1K"
/standard_name="MARC_12745-12746:1030738152:1"
/db_xref="UniSTS:267439"
variation 860..861
/gene="HOXA2"
/gene_synonym="HOX1K"
/replace="a"
/replace="t"
/db_xref="dbSNP:941002"
STS 954..1214
/gene="HOXA2"
/gene_synonym="HOX1K"
/standard_name="REN100332"
/db_xref="UniSTS:425129"
STS 1012..1162
/gene="HOXA2"
/gene_synonym="HOX1K"
/standard_name="Hoxa2"
/db_xref="UniSTS:143365"
STS 1034..1165
/gene="HOXA2"
/gene_synonym="HOX1K"
/standard_name="SHGC-57559"
/db_xref="UniSTS:27278"
STS 1197..1442
/gene="HOXA2"
/gene_synonym="HOX1K"
/standard_name="REN100331"
/db_xref="UniSTS:425128"
STS 1256..1521
/gene="HOXA2"
/gene_synonym="HOX1K"
/standard_name="stSG609312"
/db_xref="UniSTS:449411"
STS 1419..1663
/gene="HOXA2"
/gene_synonym="HOX1K"
/standard_name="REN100330"
/db_xref="UniSTS:425127"
polyA_signal 1754..1759
/gene="HOXA2"
/gene_synonym="HOX1K"
polyA_site 1778
/gene="HOXA2"
/gene_synonym="HOX1K"
ORIGIN
tcttttgattaaagcccaaattgtcattgggcagaagcaatcatgtgacagccaattcggtccaatttcaaccttgtctccatgaattcaatagtttaatagtagcgcggtccccatacggctgtaatcagtgaattagaaaaaaaacaccctagcagcgatattctatgatagattttttttcctctgcgctcgcctttttcctaggccttgcccccccaaagcccctccaaaagagggaactttttctctgagggggctccaaggagaaggccatgaattacgaatttgagcgagagattggttttatcaatagccagccgtcgctcgctgagtgcctgacatcttttccccctgtcgctgatacatttcaaagttcatcaatcaagacctcgacgctttcacactcgacactgattcctcctccttttgagcagaccattcccagcctgaaccccggcagtcaccctcgccacggcgctggcggccgccccaagccgagccccgcgggcagccgcggcagcccggtgcccgccggcgccctgcagccgcccgagtacccctggatgaaggagaagaaggcggccaagaaaaccgcacttctgccggccgccgccgccgccgccaccgccgcagccaccggccctgcttgcctcagccacaaagaatccctggaaatcgccgatggcagcggcgggggatcgcggcgcctgagaactgcttacaccaacacacagcttctagagctggaaaaagaatttcatttcaacaagtacctttgcagaccccgaagggtggagattgcagcgctgctggatttgactgagagacaagtgaaagtgtggtttcagaaccggaggatgaagcacaagaggcagacccagtgcaaggaaaaccaaaacagcgaagggaaatgtaaaagccttgaggactccgagaaagtagaggaggacgaggaagagaagacgctctttgagcaagcccttagcgtctctggggcccttctggagagggaaggctacacttttcagcaaaatgccctctctcagcagcaggctcccaatggacacaatggcgactcccaaagtttcccagtctcgcctttaaccagcaatgagaaaaatctgaaacattttcagcaccagtcacccactgttcccaactgcttgtcaacaatgggccagaactgtggagctggcctaaacaatgacagtcctgaggcccttgaggtcccctctttgcaggactttagcgttttctccacagattcctgcctgcagctttcagatgcagtttcacccagtttgccaggttccctcgacagtcccgtagatatttcagctgacagcttagacttttttacagacacactcaccacaatcgacttgcagcatctgaattactaaaaacattaaagcaaaacaaagcatcaccaaacaaaaactcctttgaccaggtggttttgccttcttttatttgggagtttattttttattttcttcttgacctaccccttccctcctttaagtgttgaggattttctgtttagtgattccctgacccagtttcaaacagagccatcttttacagattattttggagttttagttgttttaaacctaactcaacaaccctttatgtgattcctgagagcagtatgaggcctgcaagaaagtgatcatataattgtatcttcactttctttttatttttgtattacattgggatgcattgtcatgcatattttttgtagaataaattctcctttgctataagtaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:3199 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
GeneID:3199 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
GeneID:3199 -> Biological process: GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] evidence: IEA
GeneID:3199 -> Biological process: GO:0001709 [cell fate determination] evidence: IEA
GeneID:3199 -> Biological process: GO:0002076 [osteoblast development] evidence: IEA
GeneID:3199 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
GeneID:3199 -> Biological process: GO:0007379 [segment specification] evidence: IEA
GeneID:3199 -> Biological process: GO:0008045 [motor neuron axon guidance] evidence: IEA
GeneID:3199 -> Biological process: GO:0009952 [anterior/posterior pattern specification] evidence: IEA
GeneID:3199 -> Biological process: GO:0009953 [dorsal/ventral pattern formation] evidence: IEA
GeneID:3199 -> Biological process: GO:0021568 [rhombomere 2 development] evidence: IEA
GeneID:3199 -> Biological process: GO:0021658 [rhombomere 3 morphogenesis] evidence: IEA
GeneID:3199 -> Biological process: GO:0035284 [brain segmentation] evidence: IEA
GeneID:3199 -> Biological process: GO:0042474 [middle ear morphogenesis] evidence: IEA
GeneID:3199 -> Biological process: GO:0045665 [negative regulation of neuron differentiation] evidence: IEA
GeneID:3199 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IEA
GeneID:3199 -> Biological process: GO:0048703 [embryonic viscerocranium morphogenesis] evidence: IEA
GeneID:3199 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:3199 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA
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