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2020-06-02 00:13:07, GGRNA.v2 : RefSeq release 200 (May, 2020)

LOCUS       NM_001319074            2421 bp    mRNA    linear   PRI 30-OCT-2019
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; RefSeq 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 PW, Weleber RG and Pennesi ME.
  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 FE, Tan A, Bonnard C, Boland GJ, Snippe H,
            Hibberd ML 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 JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  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 QL, Chen S, Esumi N, Swain PK, Haines HS, Peng G, Melia BM,
            McIntosh I, Heckenlively JR, Jacobson SG, Stone EM, Swaroop A and
            Zack DJ.
  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.
            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
            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"
                     /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"
                     /inference="alignment:Splign:2.1.0"
     exon            67..550
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /inference="alignment:Splign:2.1.0"
     misc_feature    71..73
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /note="upstream in-frame stop codon"
     misc_feature    197..199
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MPAPVEGTDFPGAGRQAWGSPALSLPVAPPAVSPPSVPLPSHQVGA"
     CDS             335..889
                     /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_001306003.2"
                     /db_xref="GeneID:84839"
                     /db_xref="HGNC:HGNC:18286"
                     /db_xref="MIM:610362"
                     /translation="
MFLSPGEGPATEGGGLGPGEEAPKKKHRRNRTTFTTYQLHQLERAFEASHYPDVYSREELAAKVHLPEVRVQVWFQNRRAKWRRQERLESGSGAVAAPRLPEAPALPFARPPAMSLPLEPWLGPGPPAVPGLPRLLGPGPGLQASFGPHAFAPTFADGFALEEASLRLLAKEHAQALDRAWPPA"
     exon            551..2421
                     /gene="RAX2"
                     /gene_synonym="ARMD6; CORD11; QRX; RAXL1"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
agacgcagcgccaggcccgctggggcaggtgtcccgtggaaatcgacggaggggctgccgtgggcggccgtgacagtcacagagaggggaagagaaaacagggacggtgacacacacagagagaaggaagagcagacagaggcacagcaggagacccccccaagcccgaggaggacagcctggggatgcagagcgcatgccggccccagtggagggaaccgatttccccggagccgggaggcaagcctggggctcccctgccctgtccctgccggtagcccccccagccgtctccccaccatctgtcccgctgccgtcccaccaggtgggagccatgttcctgagcccgggcgaggggccggcaaccgagggtgggggtctggggccgggcgaggaggcccccaagaagaagcaccggaggaaccgcaccaccttcaccacctaccagctgcaccagctggagcgggcgttcgaggcctctcactacccggatgtgtacagccgtgaggagctggcagccaaggtgcacctacctgaggtgcgcgtgcaggtgtggttccagaaccgccgggccaagtggcgccgccaggagcggctggagtcaggctcgggtgccgtggcagctccgagactccccgaggccccagcgctgccgttcgcccgccccccggccatgtcgctgcccctggagccctggttgggccccggaccgccggccgtgccaggcctcccccgcctcctgggcccgggcccggggctgcaagcgtccttcgggcctcatgcctttgctcccaccttcgcagatggcttcgccctggaggaggcgtccctgcggctgctggccaaggaacatgcacaggctctggacagggcctggccgccagcctgagcctgccgccctcccgggccccctcctcggcccaacccgagaaccggggacgtgccctggtgacagccaccacgccttggcctaggccgaggtcatggagcaaccgtggtcaggccaggccaccaccactggggagcgggaccagagagacaggctgctgggttccctgcccccatcccgtctcccaccccatcgccacccgtcctgctggcagcggactggcccccagtgtcaggcaggaggtgacccaagtattctcaggccaggtgcggggacctcctcccctcctggggcctcagtctcctgtctgttaattgggcgtgggggcctccgaggttcgagggctgcgaggctgtgggtggcgggaccgctgactctgtaagatgagtgtaaatctctctgcttctcctaatccccatcagcagagctgcccactctccaggctcccagtcccctggaaataacaaatagcagcagctcccgcgagcctggtctcctctcaccgtgtgctcgccatgtgagcactcccctctccgttgtgccctggacctcgggcacagctgtcagcccattctatagagagggaaaccggggcttaggcaggaagccaggtccccaaagtcgcacggccaggagtggatggagctgcctttcagacccatcaccggtcctaccgtccggggcacagcgacaggttctggagagagggtgggtcccgggccaggtgctggtgggcctccaggtggaggcgggctgatgctgggtgtgtcgtcatcgtcagaccgttcctcacgtccccacagaccccaggccctgtgcatgtccccagtggaggcatggccagcatctgctctgtccaacccagccgcatcgcccaagagctctgagcaaggaggctgtcgcggggccgagaacccgctgggactggcaagcacggctggcccagtgcagcaggagggggccctgaggcatgggatgggacagtctgggccagcgccacctcccgggacagaagtgcggcaccagggcaggagctgcagtagctaccctccccgtctccagcctgggctccccagatcactcccagatcaccaggtcaccccatctctaggcggcacctcacacaccagtcctgtggtccaacgccccgccatcacccaatgtcaccgcacaccaggcagtggggacacggcagtaagcacaagaaagatttttttttttaaagctaaaccaggccaggtgcggtggctcatgcctgtaatcccagtgctttgggaggctgaggtgggaggattgcttgagaccagcctgggtgacacagcaagaccccatctccacaaacgtttttaaaatgtgccgggtgtactggtgcacacctgtcatcccagctacccaagaagctgaggcaagaggatcacttgagcccagaaggtcgaggctgcagggagctgtgatcacactgctgcactccagcctgtgcaacagagccagaccctgactcaatacaaataaaaaacaaatctaaaacaaaa
//

by @meso_cacase at DBCLS
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If you use GGRNA in your work, please cite:
Naito Y, Bono H. (2012)
GGRNA: an ultrafast, transcript-oriented search engine for genes and transcripts.
Nucleic Acids Res., 40, W592-W596. [Full Text]