LOCUS       NM_032753               2190 bp    mRNA    linear   PRI 18-APR-2013
DEFINITION  Homo sapiens retina and anterior neural fold homeobox 2 (RAX2),
            mRNA.
ACCESSION   NM_032753
VERSION     NM_032753.3  GI:164607176
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 2190)
  AUTHORS   Davila,S., Froeling,F.E., Tan,A., Bonnard,C., Boland,G.J.,
            Snippe,H., Hibberd,M.L. and Seielstad,M.
  TITLE     New genetic associations detected in a host response study to
            hepatitis B vaccine
  JOURNAL   Genes Immun. 11 (3), 232-238 (2010)
   PUBMED   20237496
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   2  (bases 1 to 2190)
  AUTHORS   Wang,Q.L., Chen,S., Esumi,N., Swain,P.K., Haines,H.S., Peng,G.,
            Melia,B.M., McIntosh,I., Heckenlively,J.R., Jacobson,S.G.,
            Stone,E.M., Swaroop,A. and Zack,D.J.
  TITLE     QRX, a novel homeobox gene, modulates photoreceptor gene expression
  JOURNAL   Hum. Mol. Genet. 13 (10), 1025-1040 (2004)
   PUBMED   15028672
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC018709.1 and AY211277.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jan 11, 2008 this sequence version replaced gi:20127653.
            
            Summary: This gene encodes a homeodomain-containing protein that
            plays a role in eye development. Mutation of this gene causes
            age-related macular degeneration type 6, an eye disorder resulting
            in accumulations of protein and lipid beneath the retinal pigment
            epithelium and within the Bruch's membrane. Defects in this gene
            can also cause cone-rod dystrophy type 11, a disease characterized
            by the initial degeneration of cone photoreceptor cells and
            resulting in loss of color vision and visual acuity, followed by
            the degeneration of rod photoreceptor cells, which progresses to
            night blindness and the loss of peripheral vision. [provided by
            RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY211277.1, BQ639073.1 [ECO:0000332]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                BC018709.1         1-10
            11-1066             AY211277.1         2-1057
            1067-1488           BC018709.1         1326-1747
            1489-1937           AY211277.1         1481-1929
            1938-2138           BC018709.1         2199-2399
            2139-2150           AY211277.1         2131-2142
            2151-2190           BC018709.1         2412-2451
FEATURES             Location/Qualifiers
     source          1..2190
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..2190
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /note="retina and anterior neural fold homeobox 2"
                     /db_xref="GeneID:84839"
                     /db_xref="HGNC:18286"
                     /db_xref="HPRD:17508"
                     /db_xref="MIM:610362"
     exon            1..59
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(47)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:182965071"
     exon            60..284
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /inference="alignment:Splign:1.39.8"
     CDS             69..623
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /note="retina and anterior neural fold homeobox like 1;
                     Q50-type retinal homeobox protein; retina and anterior
                     neural fold homeobox-like protein 1"
                     /codon_start=1
                     /product="retina and anterior neural fold homeobox protein
                     2"
                     /protein_id="NP_116142.1"
                     /db_xref="GI:14249388"
                     /db_xref="CCDS:CCDS12112.1"
                     /db_xref="GeneID:84839"
                     /db_xref="HGNC:18286"
                     /db_xref="HPRD:17508"
                     /db_xref="MIM:610362"
                     /translation="

MFLSPGEGPATEGGGLGPGEEAPKKKHRRNRTTFTTYQLHQLERAFEASHYPDVYSREELAAKVHLPEVRVQVWFQNRRAKWRRQERLESGSGAVAAPRLPEAPALPFARPPAMSLPLEPWLGPGPPAVPGLPRLLGPGPGLQASFGPHAFAPTFADGFALEEASLRLLAKEHAQALDRAWPPA

"
     misc_feature    150..326
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /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(150..164,168..170,219..221,237..239,276..278,
                     282..287,294..299,303..311,315..320)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(156..158,165..167,285..287,294..299,306..308)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     variation       complement(80)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:201416315"
     variation       complement(82)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:144065007"
     variation       complement(101)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149515429"
     variation       complement(113)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:139127905"
     variation       complement(122)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:367658021"
     variation       complement(126)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374434635"
     variation       complement(144)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:370364475"
     variation       complement(151)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199546013"
     variation       complement(159)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200153795"
     variation       complement(160)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373009969"
     variation       complement(199)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370757303"
     variation       complement(207)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201124970"
     variation       complement(223)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:76076446"
     variation       complement(224)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:141804618"
     variation       complement(229)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:138553345"
     variation       complement(240)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370195708"
     variation       complement(246)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374872032"
     variation       complement(249)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373359134"
     variation       complement(271)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:202149846"
     variation       complement(276)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:372266287"
     exon            285..2155
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(318)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:148629445"
     variation       328
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:121908280"
     variation       complement(350)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201021639"
     variation       complement(362)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:191051622"
     variation       477
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:121908281"
     variation       complement(498)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:113176673"
     variation       complement(500)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:149918940"
     variation       complement(562)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:112538462"
     variation       complement(568)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:202103390"
     variation       complement(668)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:139146360"
     variation       complement(693)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:112751250"
     variation       complement(814)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150808899"
     variation       complement(817)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11883056"
     variation       complement(894)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142875968"
     variation       complement(903)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374701207"
     variation       complement(1004)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:73531473"
     variation       complement(1070)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:147235958"
     variation       complement(1076)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370569469"
     variation       complement(1270)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:112369501"
     variation       complement(1303)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:28673245"
     variation       complement(1312)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:115071988"
     variation       complement(1343..1346)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace=""
                     /replace="gcca"
                     /db_xref="dbSNP:372000630"
     variation       complement(1343)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:917547"
     variation       complement(1344..1347)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace=""
                     /replace="ccag"
                     /db_xref="dbSNP:138512126"
     variation       complement(1408)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:917546"
     variation       complement(1446)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:143706741"
     variation       complement(1489)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:917545"
     variation       complement(1496)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:148990863"
     variation       complement(1525)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:10405125"
     variation       complement(1532)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:181573768"
     variation       complement(1533)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372452808"
     variation       complement(1677)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368356816"
     variation       complement(1695..1705)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace=""
                     /replace="cccagatcact"
                     /db_xref="dbSNP:368263502"
     variation       complement(1705..1715)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace=""
                     /replace="tcccagatcac"
                     /db_xref="dbSNP:143816706"
     variation       complement(1705)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace=""
                     /replace="cccagatcact"
                     /db_xref="dbSNP:11273218"
     variation       complement(1772)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1860322"
     variation       complement(1947)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138882802"
     variation       complement(1972)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:8103165"
     variation       complement(1989)
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:6510769"
     polyA_signal    2131..2136
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
     polyA_site      2155
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
ORIGIN      

gcgccaggcccgctggggcaggtgtcccgtggaaatcgacggaggggctgccgtgggcggtgggagccatgttcctgagcccgggcgaggggccggcaaccgagggtgggggtctggggccgggcgaggaggcccccaagaagaagcaccggaggaaccgcaccaccttcaccacctaccagctgcaccagctggagcgggcgttcgaggcctctcactacccggatgtgtacagccgtgaggagctggcagccaaggtgcacctacctgaggtgcgcgtgcaggtgtggttccagaaccgccgggccaagtggcgccgccaggagcggctggagtcaggctcgggtgccgtggcagctccgagactccccgaggccccagcgctgccgttcgcccgccccccggccatgtcgctgcccctggagccctggttgggccccggaccgccggccgtgccaggcctcccccgcctcctgggcccgggcccggggctgcaagcgtccttcgggcctcatgcctttgctcccaccttcgcagatggcttcgccctggaggaggcgtccctgcggctgctggccaaggaacatgcacaggctctggacagggcctggccgccagcctgagcctgccgccctcccgggccccctcctcggcccaacccgagaaccggggacgtgccctggtgacagccaccacgccttggcctaggccgaggtcatggagcaaccgtggtcaggccaggccaccaccactggggagcgggaccagagagacaggctgctgggttccctgcccccatcccgtctcccaccccatcgccacccgtcctgctggcagcggactggcccccagtgtcaggcaggaggtgacccaagtattctcaggccaggtgcggggacctcctcccctcctggggcctcagtctcctgtctgttaattgggcgtgggggcctccgaggttcgagggctgcgaggctgtgggtggcgggaccgctgactctgtaagatgagtgtaaatctctctgcttctcctaatccccatcagcagagctgcccactctccaggctcccagtcccctggaaataacaaatagcagcagctcccgcgagcctggtctcctctcaccgtgtgctcgccatgtgagcactcccctctccgttgtgccctggacctcgggcacagctgtcagcccattctatagagagggaaaccggggcttaggcaggaagccaggtccccaaagtcgcacggccaggagtggatggagctgcctttcagacccatcaccggtcctaccgtccggggcacagcgacaggttctggagagagggtgggtcccgggccaggtgctggtgggcctccaggtggaggcgggctgatgctgggtgtgtcgtcatcgtcagaccgttcctcacgtccccacagaccccaggccctgtgcatgtccccagtggaggcatggccagcatctgctctgtccaacccagccgcatcgcccaagagctctgagcaaggaggctgtcgcggggccgagaacccgctgggactggcaagcacggctggcccagtgcagcaggagggggccctgaggcatgggatgggacagtctgggccagcgccacctcccgggacagaagtgcggcaccagggcaggagctgcagtagctaccctccccgtctccagcctgggctccccagatcactcccagatcaccaggtcaccccatctctaggcggcacctcacacaccagtcctgtggtccaacgccccgccatcacccaatgtcaccgcacaccaggcagtggggacacggcagtaagcacaagaaagatttttttttttaaagctaaaccaggccaggtgcggtggctcatgcctgtaatcccagtgctttgggaggctgaggtgggaggattgcttgagaccagcctgggtgacacagcaagaccccatctccacaaacgtttttaaaatgtgccgggtgtactggtgcacacctgtcatcccagctacccaagaagctgaggcaagaggatcacttgagcccagaaggtcgaggctgcagggagctgtgatcacactgctgcactccagcctgtgcaacagagccagaccctgactcaatacaaataaaaaacaaatctaaaacaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa

//

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:84839 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
            GeneID:84839 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
            GeneID:84839 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
            GeneID:84839 -> Biological process: GO:0007601 [visual perception] evidence: IEA
            GeneID:84839 -> Biological process: GO:0050896 [response to stimulus] evidence: IEA
            GeneID:84839 -> Cellular component: GO:0005634 [nucleus] evidence: IEA