LOCUS       NM_182894               3018 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens visual system homeobox 2 (VSX2), mRNA.
ACCESSION   NM_182894 XM_290610
VERSION     NM_182894.3
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 3018)
  AUTHORS   Honnell,V., Sweeney,S., Norrie,J., Parks,M., Ramirez,C.,
            Jannu,A.J., Xu,B., Teubner,B., Lee,A.Y., Bell,C. and Dyer,M.A.
  TITLE     Evolutionary conservation of VSX2 super-enhancer modules in retinal
            development
  JOURNAL   Development 151 (13) (2024)
   PUBMED   38994775
  REMARK    GeneRIF: Evolutionary conservation of VSX2 super-enhancer modules
            in retinal development.
REFERENCE   2  (bases 1 to 3018)
  AUTHORS   Smirnov,V.M., Robert,M.P., Condroyer,C., Navarro,J., Antonio,A.,
            Rozet,J.M., Sahel,J.A., Perrault,I., Audo,I. and Zeitz,C.
  TITLE     Association of Missense Variants in VSX2 With a Peculiar Form of
            Congenital Stationary Night Blindness Affecting All Bipolar Cells
  JOURNAL   JAMA Ophthalmol 140 (12), 1163-1173 (2022)
   PUBMED   36264558
  REMARK    GeneRIF: Association of Missense Variants in VSX2 With a Peculiar
            Form of Congenital Stationary Night Blindness Affecting All Bipolar
            Cells.
REFERENCE   3  (bases 1 to 3018)
  AUTHORS   Bian,F., Daghsni,M., Lu,F., Liu,S., Gross,J.M. and Aldiri,I.
  TITLE     Functional analysis of the Vsx2 super-enhancer uncovers distinct
            cis-regulatory circuits controlling Vsx2 expression during
            retinogenesis
  JOURNAL   Development 149 (15) (2022)
   PUBMED   35831950
  REMARK    GeneRIF: Functional analysis of the Vsx2 super-enhancer uncovers
            distinct cis-regulatory circuits controlling Vsx2 expression during
            retinogenesis.
REFERENCE   4  (bases 1 to 3018)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 3018)
  AUTHORS   Jiang,Q., Wang,Y., Li,Q., Zhang,Z., Xiao,P., Wang,H., Liu,N.,
            Wu,J., Zhang,F., Chakravarti,A., Cai,W. and Li,L.
  TITLE     Sequence characterization of RET in 117 Chinese Hirschsprung
            disease families identifies a large burden of de novo and parental
            mosaic mutations
  JOURNAL   Orphanet J Rare Dis 14 (1), 237 (2019)
   PUBMED   31666091
  REMARK    GeneRIF: These findings expand the clinical and molecular spectrum
            of RET variants in Hirschsprung disease and reveal a high frequency
            of RET DNVs in the Chinese population.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3018)
  AUTHORS   Bar-Yosef,U., Abuelaish,I., Harel,T., Hendler,N., Ofir,R. and
            Birk,O.S.
  TITLE     CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in
            Arab and Jewish kindreds
  JOURNAL   Hum Genet 115 (4), 302-309 (2004)
   PUBMED   15257456
REFERENCE   7  (bases 1 to 3018)
  AUTHORS   Mikkola,I., Bruun,J.A., Holm,T. and Johansen,T.
  TITLE     Superactivation of Pax6-mediated transactivation from paired
            domain-binding sites by dna-independent recruitment of different
            homeodomain proteins
  JOURNAL   J Biol Chem 276 (6), 4109-4118 (2001)
   PUBMED   11069920
REFERENCE   8  (bases 1 to 3018)
  AUTHORS   Ferda Percin,E., Ploder,L.A., Yu,J.J., Arici,K., Horsford,D.J.,
            Rutherford,A., Bapat,B., Cox,D.W., Duncan,A.M., Kalnins,V.I.,
            Kocak-Altintas,A., Sowden,J.C., Traboulsi,E., Sarfarazi,M. and
            McInnes,R.R.
  TITLE     Human microphthalmia associated with mutations in the retinal
            homeobox gene CHX10
  JOURNAL   Nat Genet 25 (4), 397-401 (2000)
   PUBMED   10932181
REFERENCE   9  (bases 1 to 3018)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - RETIRED CHAPTER,
            FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301552
REFERENCE   10 (bases 1 to 3018)
  AUTHORS   McAlpine,P.J. and Shows,T.B.
  TITLE     Nomenclature for human homeobox genes
  JOURNAL   Genomics 7 (3), 460 (1990)
   PUBMED   1973146
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006349.3 and AC005519.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_182894.2.
            
            Summary: This gene encodes a homeobox protein originally described
            as a retina-specific transcription factor. Mutations in this gene
            are associated with microphthalmia, cataracts and iris
            abnormalities. [provided by RefSeq, Oct 2009].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY336059.1, BC128153.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968968 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261980.3/ ENSP00000261980.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-483               AC006349.3         12896-13378         c
            484-568             AC006349.3         11561-11645         c
            569-692             AC006349.3         7539-7662           c
            693-873             AC005519.4         134920-135100       c
            874-3018            AC005519.4         131964-134108       c
FEATURES             Location/Qualifiers
     source          1..3018
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     gene            1..3018
                     /gene="VSX2"
                     /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1"
                     /note="visual system homeobox 2"
                     /db_xref="GeneID:338917"
                     /db_xref="HGNC:HGNC:1975"
                     /db_xref="MIM:142993"
     exon            1..483
                     /gene="VSX2"
                     /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1"
                     /inference="alignment:Splign:2.1.0"
     CDS             114..1199
                     /gene="VSX2"
                     /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1"
                     /note="homeobox protein CHX10; ceh-10
                     homeodomain-containing homolog; ceh-10 homeo domain
                     containing homolog"
                     /codon_start=1
                     /product="visual system homeobox 2"
                     /protein_id="NP_878314.1"
                     /db_xref="CCDS:CCDS9827.1"
                     /db_xref="GeneID:338917"
                     /db_xref="HGNC:HGNC:1975"
                     /db_xref="MIM:142993"
                     /translation="MTGKAGEALSKPKSETVAKSTSGGAPARCTGFGIQEILGLNKEP
                     PSSHPRAALDGLAPGHLLAARSVLSPAGVGGMGLLGPGGLPGFYTQPTFLEVLSDPQS
                     VHLQPLGRASGPLDTSQTASSDSEDVSSSDRKMSKSALNQTKKRKKRRHRTIFTSYQL
                     EELEKAFNEAHYPDVYAREMLAMKTELPEDRIQVWFQNRRAKWRKREKCWGRSSVMAE
                     YGLYGAMVRHSIPLPESILKSAKDGIMDSCAPWLLGMHKKSLEAAAESGRKPEGERQA
                     LPKLDKMEQDERGPDAQAAISQEELRENSIAVLRAKAQEHSTKVLGTVSGPDSLARST
                     EKPEEEEAMDEDRPAERLSPPQLEDMA"
     exon            484..568
                     /gene="VSX2"
                     /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1"
                     /inference="alignment:Splign:2.1.0"
     exon            569..692
                     /gene="VSX2"
                     /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1"
                     /inference="alignment:Splign:2.1.0"
     exon            693..873
                     /gene="VSX2"
                     /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1"
                     /inference="alignment:Splign:2.1.0"
     exon            874..3018
                     /gene="VSX2"
                     /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1676..1681
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VSX2"
                     /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1"
                     /note="hexamer: AGTAAA"
     polyA_site      1694
                     /gene="VSX2"
                     /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1"
                     /note="major polyA site"
     regulatory      2998..3003
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VSX2"
                     /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1"
                     /note="hexamer: AATAAA"
     polyA_site      3018
                     /gene="VSX2"
                     /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1"
                     /note="major polyA site"
ORIGIN      
        1 agcattagac accggagggg gcacctggga ccaacttcgc gaagcgggaa gcccggcggg
       61 ggggtggggg gagctaaaga cctgcggcct cagcccctcc aaagaacagg gagatgacgg
      121 ggaaagcagg ggaagcgctg agcaagccca aatccgagac agtggccaag agtacctcgg
      181 ggggcgcccc ggccaggtgc actgggttcg gcatccagga gatcctgggc ttgaacaagg
      241 agcccccgag ctcccacccg cgggcagcgc tcgacggcct ggcccccggg cacttgctgg
      301 cggcgcgctc agtgctcagc cccgcggggg tgggcggcat ggggcttctg gggcccgggg
      361 ggctccctgg cttctacacg cagcccacct tcctggaagt gctgtccgac ccgcagagcg
      421 tccacttgca gccattgggc agagcatcgg ggccgctgga caccagccag acggccagct
      481 cggattctga agatgtttcc tccagcgatc gaaaaatgtc caaatctgct ttaaaccaga
      541 ccaagaaacg gaagaagcgg cgacacagga caatctttac ctcctaccag ctagaggagc
      601 tggagaaggc attcaacgaa gcccactacc cagacgtcta tgcccgggag atgctggcca
      661 tgaaaacgga gctgccggaa gacaggatac aggtctggtt ccagaaccgt cgagccaagt
      721 ggaggaagcg ggagaagtgc tggggccgga gcagtgtcat ggcggagtat gggctctacg
      781 gggccatggt gcggcactcc atccccctgc ccgagtccat cctcaagtca gccaaggatg
      841 gcatcatgga ctcctgtgcc ccgtggctac tggggatgca caaaaagtcg ctggaggcag
      901 cagccgagtc ggggaggaag cccgaggggg aacgccaggc cctgcccaag ctcgacaaga
      961 tggagcagga cgagcggggc cccgacgctc aggcggccat ctcccaggag gaactgaggg
     1021 agaacagcat tgcggtgctc cgggccaaag ctcaggagca cagcaccaaa gtgctgggga
     1081 ctgtgtctgg gccggacagc ctggcccgga gtaccgagaa gccagaggag gaggaggcca
     1141 tggatgaaga caggccggcg gagaggctca gtccaccgca gctggaggac atggcttagg
     1201 tcaaggcgcg ctcagatgcc ggagccccaa gactctgctc tcctcgggcc ctgtggtgct
     1261 gggagatgct ctctgaggca aggcccagac ctggcctctg ccatcctccc tgttccccac
     1321 aggtcctcca tcacccctgg tggctgcagg caccgctggg ttctgactct ggaccatgct
     1381 gagacatccc tcatctagtc ttgacctctc cagcatccca gcctcagaag ccttcttgct
     1441 gcccacaacg tcccctcaag ccccttctct caatcccttt gcaacgctca ctggttttgg
     1501 ccaccccttg ctctctgttc tcttgcttta aagagtcctc cttcccagct ctacattctg
     1561 ctctgcccat gcctaaagcc cattgctgca aatgcattgt gaattgcctg ccatggctgt
     1621 gacacagacg gaggactgga actgcaactc cagcgtcctc agcaccccac tcctcagtaa
     1681 aagtcttctc ccaactcagc ctgttccttc ctgcagacct ggctgggcct gggcttccac
     1741 agtgtgaaga cactgtgcag gcccaggcag gcccagcctc tgccccaccc atcagtggag
     1801 tccagatggc aggctacagt tgggaagtct cagcctgggc ccctcagcca cccttggtct
     1861 catgccccgc catggtcacc ctcaggaacc caccctctcc acacccagcc tgtcccactg
     1921 gctcctccca gcacaggcac ctatgtggca tgtggtgatg tacgctgcgt gccatgagtc
     1981 catgtcctat gcctcacaaa tgctgtggtt cactgcactg ttcaggagtc caaaccttct
     2041 accctgggtc ctcgggcccc tgagcctgtg tcctgaagaa tctcgactct cgtgatatgc
     2101 tgcttgtgac cttgacttgc catgaaggca cctgccccca cagctccttg caaactatga
     2161 gttcacatgt gccctgcctt gaacaaccca atctggctgg taaatgacat ctacgaagcc
     2221 acaggcctgg cctcaactga gaagccaagc ctggagtagg cctggggcta tgcatacgca
     2281 ttaagggcct gctggagaaa ccttcactcc agacagacag ggggctaagg ggctagggct
     2341 gagcacctct cagagcaagc ctttgacctg ttcagaagga tgggaaaaag gctggaagga
     2401 aagcaaggca gaaggccagg agtaagccca agctaagctg caggcacaca cgccttcatg
     2461 ccagtgcatg ccaggaagca cgttcactag actaaaacac ggtaaccatg atggaataag
     2521 gagctggggc ttctttctgc tggctgatgg gtggacctgt gtatggtgac ctctccggcc
     2581 tggccttttc cattcgcatg aacaatggga gcacatagcc ctgttgacct gcccgatcca
     2641 gattcccagg ccaggctccc gaccccatcc acctatccac caccccaccc acctttgcag
     2701 ggaatacctc gttagagaat ggcctgagac agtgcgttgc aactttttaa ttccatatca
     2761 aaagttgatt tcttcttcat tccatttatg gaacttccct ccccctagtc cggttcttct
     2821 tgtctttgtc cctgttggtt tgaagtgtta gactatagcc cctggtgtgt aaataatgta
     2881 catagagtga gaagaaagaa acttgatatt gaggtgtttg aaatatggaa ctgtaataac
     2941 ttctaggtat tcgaaacctg tgatttctgt gccattttct gtaaagatac aagtaagaat
     3001 aaaattgact taaaaata
//
