LOCUS       NM_001319074            2421 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens retina and anterior neural fold homeobox 2 (RAX2),
            transcript variant 1, mRNA.
ACCESSION   NM_001319074 XM_005259662
VERSION     NM_001319074.4
KEYWORDS    RefSeq; MANE Select.
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 2421)
  AUTHORS   Yang,P., Chiang,P.W., Weleber,R.G. and Pennesi,M.E.
  TITLE     Autosomal Dominant Retinal Dystrophy With Electronegative Waveform
            Associated With a Novel RAX2 Mutation
  JOURNAL   JAMA Ophthalmol 133 (6), 653-661 (2015)
   PUBMED   25789692
  REMARK    GeneRIF: A frameshift heterozygous mutation in RAX2 inherited in an
            autosomal dominant fashion was associated with mixed cone and rod
            dysfunction.
REFERENCE   2  (bases 1 to 2421)
  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   3  (bases 1 to 2421)
  AUTHORS   Vaquerizas,J.M., Kummerfeld,S.K., Teichmann,S.A. and Luscombe,N.M.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   4  (bases 1 to 2421)
  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 AC005777.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Oct 30, 2019 this sequence version replaced NM_001319074.3.
            
            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. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Jan 2016].
            
            Sequence Note:.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC032512.1, BM083893.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000555633.3/
                                                ENSP00000450456.3
            RefSeq Select criteria           :: based on manual assertion,
                                                conservation, expression,
                                                longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-66                AC005777.1         8852-8917           c
            67-550              AC005777.1         8216-8699           c
            551-2421            AC005777.1         5778-7648           c
FEATURES             Location/Qualifiers
     source          1..2421
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..2421
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1; RP95"
                     /note="retina and anterior neural fold homeobox 2"
                     /db_xref="GeneID:84839"
                     /db_xref="HGNC:HGNC:18286"
                     /db_xref="MIM:610362"
     exon            1..66
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1; RP95"
                     /inference="alignment:Splign:2.1.0"
     exon            67..550
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1; RP95"
                     /inference="alignment:Splign:2.1.0"
     CDS             335..889
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1; RP95"
                     /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_001306003.2"
                     /db_xref="CCDS:CCDS12112.1"
                     /db_xref="GeneID:84839"
                     /db_xref="HGNC:HGNC:18286"
                     /db_xref="MIM:610362"
                     /translation="MFLSPGEGPATEGGGLGPGEEAPKKKHRRNRTTFTTYQLHQLER
                     AFEASHYPDVYSREELAAKVHLPEVRVQVWFQNRRAKWRRQERLESGSGAVAAPRLPE
                     APALPFARPPAMSLPLEPWLGPGPPAVPGLPRLLGPGPGLQASFGPHAFAPTFADGFA
                     LEEASLRLLAKEHAQALDRAWPPA"
     exon            551..2421
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1; RP95"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 agacgcagcg ccaggcccgc tggggcaggt gtcccgtgga aatcgacgga ggggctgccg
       61 tgggcggccg tgacagtcac agagagggga agagaaaaca gggacggtga cacacacaga
      121 gagaaggaag agcagacaga ggcacagcag gagacccccc caagcccgag gaggacagcc
      181 tggggatgca gagcgcatgc cggccccagt ggagggaacc gatttccccg gagccgggag
      241 gcaagcctgg ggctcccctg ccctgtccct gccggtagcc cccccagccg tctccccacc
      301 atctgtcccg ctgccgtccc accaggtggg agccatgttc ctgagcccgg gcgaggggcc
      361 ggcaaccgag ggtgggggtc tggggccggg cgaggaggcc cccaagaaga agcaccggag
      421 gaaccgcacc accttcacca cctaccagct gcaccagctg gagcgggcgt tcgaggcctc
      481 tcactacccg gatgtgtaca gccgtgagga gctggcagcc aaggtgcacc tacctgaggt
      541 gcgcgtgcag gtgtggttcc agaaccgccg ggccaagtgg cgccgccagg agcggctgga
      601 gtcaggctcg ggtgccgtgg cagctccgag actccccgag gccccagcgc tgccgttcgc
      661 ccgccccccg gccatgtcgc tgcccctgga gccctggttg ggccccggac cgccggccgt
      721 gccaggcctc ccccgcctcc tgggcccggg cccggggctg caagcgtcct tcgggcctca
      781 tgcctttgct cccaccttcg cagatggctt cgccctggag gaggcgtccc tgcggctgct
      841 ggccaaggaa catgcacagg ctctggacag ggcctggccg ccagcctgag cctgccgccc
      901 tcccgggccc cctcctcggc ccaacccgag aaccggggac gtgccctggt gacagccacc
      961 acgccttggc ctaggccgag gtcatggagc aaccgtggtc aggccaggcc accaccactg
     1021 gggagcggga ccagagagac aggctgctgg gttccctgcc cccatcccgt ctcccacccc
     1081 atcgccaccc gtcctgctgg cagcggactg gcccccagtg tcaggcagga ggtgacccaa
     1141 gtattctcag gccaggtgcg gggacctcct cccctcctgg ggcctcagtc tcctgtctgt
     1201 taattgggcg tgggggcctc cgaggttcga gggctgcgag gctgtgggtg gcgggaccgc
     1261 tgactctgta agatgagtgt aaatctctct gcttctccta atccccatca gcagagctgc
     1321 ccactctcca ggctcccagt cccctggaaa taacaaatag cagcagctcc cgcgagcctg
     1381 gtctcctctc accgtgtgct cgccatgtga gcactcccct ctccgttgtg ccctggacct
     1441 cgggcacagc tgtcagccca ttctatagag agggaaaccg gggcttaggc aggaagccag
     1501 gtccccaaag tcgcacggcc aggagtggat ggagctgcct ttcagaccca tcaccggtcc
     1561 taccgtccgg ggcacagcga caggttctgg agagagggtg ggtcccgggc caggtgctgg
     1621 tgggcctcca ggtggaggcg ggctgatgct gggtgtgtcg tcatcgtcag accgttcctc
     1681 acgtccccac agaccccagg ccctgtgcat gtccccagtg gaggcatggc cagcatctgc
     1741 tctgtccaac ccagccgcat cgcccaagag ctctgagcaa ggaggctgtc gcggggccga
     1801 gaacccgctg ggactggcaa gcacggctgg cccagtgcag caggaggggg ccctgaggca
     1861 tgggatggga cagtctgggc cagcgccacc tcccgggaca gaagtgcggc accagggcag
     1921 gagctgcagt agctaccctc cccgtctcca gcctgggctc cccagatcac tcccagatca
     1981 ccaggtcacc ccatctctag gcggcacctc acacaccagt cctgtggtcc aacgccccgc
     2041 catcacccaa tgtcaccgca caccaggcag tggggacacg gcagtaagca caagaaagat
     2101 tttttttttt aaagctaaac caggccaggt gcggtggctc atgcctgtaa tcccagtgct
     2161 ttgggaggct gaggtgggag gattgcttga gaccagcctg ggtgacacag caagacccca
     2221 tctccacaaa cgtttttaaa atgtgccggg tgtactggtg cacacctgtc atcccagcta
     2281 cccaagaagc tgaggcaaga ggatcacttg agcccagaag gtcgaggctg cagggagctg
     2341 tgatcacact gctgcactcc agcctgtgca acagagccag accctgactc aatacaaata
     2401 aaaaacaaat ctaaaacaaa a
//
