LOCUS       NM_133669               4422 bp    mRNA    linear   ROD 07-AUG-2023
DEFINITION  Mus musculus retinitis pigmentosa 2 homolog (Rp2), transcript
            variant 1, mRNA.
ACCESSION   NM_133669 XM_978337
VERSION     NM_133669.5
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 4422)
  AUTHORS   Collin GB, Gogna N, Chang B, Damkham N, Pinkney J, Hyde LF, Stone
            L, Naggert JK, Nishina PM and Krebs MP.
  TITLE     Mouse Models of Inherited Retinal Degeneration with Photoreceptor
            Cell Loss
  JOURNAL   Cells 9 (4), 931 (2020)
   PUBMED   32290105
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4422)
  AUTHORS   Li L, Rao KN and Khanna H.
  TITLE     Structural but Not Functional Alterations in Cones in the Absence
            of the Retinal Disease Protein Retinitis Pigmentosa 2 (RP2) in a
            Cone-Only Retina
  JOURNAL   Front Genet 10, 323 (2019)
   PUBMED   31024631
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4422)
  AUTHORS   Wright ZC, Singh RK, Alpino R, Goldberg AF, Sokolov M and
            Ramamurthy V.
  TITLE     ARL3 regulates trafficking of prenylated phototransduction proteins
            to the rod outer segment
  JOURNAL   Hum Mol Genet 25 (10), 2031-2044 (2016)
   PUBMED   26936825
  REMARK    GeneRIF: this study identifies ARL3 as a key player in prenylated
            protein trafficking in rod photoreceptor cells and establishes the
            potential role for ARL3 dysregulation in the pathogenesis of
            RP2-related forms of X-linked retinitis pigmentosa
REFERENCE   4  (bases 1 to 4422)
  AUTHORS   Mookherjee S, Hiriyanna S, Kaneshiro K, Li L, Li Y, Li W, Qian H,
            Li T, Khanna H, Colosi P, Swaroop A and Wu Z.
  TITLE     Long-term rescue of cone photoreceptor degeneration in retinitis
            pigmentosa 2 (RP2)-knockout mice by gene replacement therapy
  JOURNAL   Hum Mol Genet 24 (22), 6446-6458 (2015)
   PUBMED   26358772
  REMARK    GeneRIF: we first performed detailed characterization of the
            Rp2-knockout (Rp2-KO) mice and observed early-onset cone
            dysfunction
REFERENCE   5  (bases 1 to 4422)
  AUTHORS   Li L, Rao KN, Zheng-Le Y, Hurd TW, Lillo C and Khanna H.
  TITLE     Loss of retinitis pigmentosa 2 (RP2) protein affects cone
            photoreceptor sensory cilium elongation in mice
  JOURNAL   Cytoskeleton (Hoboken) 72 (9), 447-454 (2015)
   PUBMED   26383048
  REMARK    GeneRIF: RP2 has a role in cone photoreceptor sensory cilium
            elongation in mice
REFERENCE   6  (bases 1 to 4422)
  AUTHORS   Zhang H, Hanke-Gogokhia C, Jiang L, Li X, Wang P, Gerstner CD,
            Frederick JM, Yang Z and Baehr W.
  TITLE     Mistrafficking of prenylated proteins causes retinitis pigmentosa 2
  JOURNAL   FASEB J 29 (3), 932-942 (2015)
   PUBMED   25422369
REFERENCE   7  (bases 1 to 4422)
  AUTHORS   Li L, Khan N, Hurd T, Ghosh AK, Cheng C, Molday R, Heckenlively JR,
            Swaroop A and Khanna H.
  TITLE     Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice
            results in opsin mislocalization and photoreceptor degeneration
  JOURNAL   Invest Ophthalmol Vis Sci 54 (7), 4503-4511 (2013)
   PUBMED   23745007
  REMARK    GeneRIF: Our studies suggest that RP2 contributes to the
            maintenance of photoreceptor function and that cone opsin
            mislocalization represents an early step in XLRP caused by RP2
            mutations.
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 4422)
  AUTHORS   Evans RJ, Schwarz N, Nagel-Wolfrum K, Wolfrum U, Hardcastle AJ and
            Cheetham ME.
  TITLE     The retinitis pigmentosa protein RP2 links pericentriolar vesicle
            transport between the Golgi and the primary cilium
  JOURNAL   Hum Mol Genet 19 (7), 1358-1367 (2010)
   PUBMED   20106869
  REMARK    GeneRIF: We propose that RP2 regulation of Arl3 is important for
            maintaining Golgi cohesion, facilitating the transport and docking
            of vesicles and thereby carrying proteins to the base of the
            photoreceptor connecting cilium for transport to the outer segment.
REFERENCE   9  (bases 1 to 4422)
  AUTHORS   Schwahn U, Paland N, Techritz S, Lenzner S and Berger W.
  TITLE     Mutations in the X-linked RP2 gene cause intracellular misrouting
            and loss of the protein
  JOURNAL   Hum Mol Genet 10 (11), 1177-1183 (2001)
   PUBMED   11371510
REFERENCE   10 (bases 1 to 4422)
  AUTHORS   Schwahn U, Lenzner S, Dong J, Feil S, Hinzmann B, van Duijnhoven G,
            Kirschner R, Hemberger M, Bergen AA, Rosenberg T, Pinckers AJ,
            Fundele R, Rosenthal A, Cremers FP, Ropers HH and Berger W.
  TITLE     Positional cloning of the gene for X-linked retinitis pigmentosa 2
  JOURNAL   Nat Genet 19 (4), 327-332 (1998)
   PUBMED   9697692
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK132713.1, AK050418.1, AK162309.1 and BX294384.19.
            
            [WARNING] On Dec 1, 2023 this sequence was replaced by NM_133669.6.
            
            On Mar 15, 2014 this sequence version replaced NM_133669.4.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a). Variants 1 and 2 encode the same isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK050418.1, AK162309.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849375, SAMN00849380
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-127               AK132713.1         1-127
            128-2720            AK050418.1         2-2594
            2721-3690           AK162309.1         2638-3607
            3691-4422           BX294384.19        100040-100771
FEATURES             Location/Qualifiers
     source          1..4422
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="X"
                     /map="X 15.83 cM"
     gene            1..4422
                     /gene="Rp2"
                     /gene_synonym="Rp2h"
                     /note="retinitis pigmentosa 2 homolog"
                     /db_xref="GeneID:19889"
                     /db_xref="MGI:MGI:1277953"
     exon            1..348
                     /gene="Rp2"
                     /gene_synonym="Rp2h"
                     /inference="alignment:Splign:2.1.0"
     CDS             256..1299
                     /gene="Rp2"
                     /gene_synonym="Rp2h"
                     /note="isoform a is encoded by transcript variant 1;
                     protein XRP2"
                     /codon_start=1
                     /product="protein XRP2 isoform a"
                     /protein_id="NP_598430.1"
                     /db_xref="CCDS:CCDS30041.1"
                     /db_xref="GeneID:19889"
                     /db_xref="MGI:MGI:1277953"
                     /translation="MGCCFTKRRKSEKAEGEEEQPKLYSWDQREKVDPKDYMFSGLKD
                     ETVGRLPGKVAGQQFVIQDCENCNIYIFDHSATITIDDCTNCVIFLGPVKGSVFFRNC
                     RDCKCTLACQQFRVRDCRKLEVFLCCATQPIIESSTNIKFGCFQWYYPELAAQFKDAG
                     LSIFNNIWSHVHDFTPVSGELNWSLLPENAVVQDYVPIPMTEEFKAVRISTEANRSIV
                     PVSRGQRQKYSDESCLVVLFADDYTTANARKLIDEMVGKGFSLVQTKEMSMKTEDAQR
                     VFQEKASDFLLLLNKGPVIALEFNGDDAVQECHLIVNGMFNGTKMFVSEKKETASGDV
                     DSFYNFAEIQMGI"
     exon            349..1014
                     /gene="Rp2"
                     /gene_synonym="Rp2h"
                     /inference="alignment:Splign:2.1.0"
     exon            1015..1129
                     /gene="Rp2"
                     /gene_synonym="Rp2h"
                     /inference="alignment:Splign:2.1.0"
     exon            1130..1215
                     /gene="Rp2"
                     /gene_synonym="Rp2h"
                     /inference="alignment:Splign:2.1.0"
     exon            1216..4422
                     /gene="Rp2"
                     /gene_synonym="Rp2h"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 agagcagctt gcgaggcatt gattggctca gaggctgctg cccgcttatt ggttgccata
       61 ggtcgtcacg gagacctagg gggttgggcg gagaagggtg ttgggcctgg cgggagtgct
      121 gagggttcct ggcggcgggg ctgctcccct gggcggtgtc cggggagctg ttggccgagt
      181 caccctggct tcccgccacc ctctgaaagg tgtctgagcg agtggggtcc actaccaaga
      241 cccttaggcc gcaccatggg ctgctgcttc actaagagga ggaagagtga aaaggctgag
      301 ggagaggagg agcagcccaa gctgtacagc tgggaccagc gggagaaggt tgatccaaaa
      361 gattacatgt ttagtggact gaaggatgaa acagtaggtc gcttacctgg aaaagtggca
      421 ggacaacaat ttgtcattca agactgtgag aactgtaaca tctatatttt tgaccactca
      481 gctactatta ccattgatga ctgcactaac tgtgtaattt ttttgggacc agtgaaaggc
      541 agtgtctttt tccgaaattg tagagattgc aagtgcacat tggcttgcca gcaatttcgt
      601 gtgagagact gtagaaagtt ggaagtcttt ttgtgctgtg ctactcaacc cattattgaa
      661 tcttccacaa acatcaagtt tggctgtttt caatggtact accctgaatt agcagcccaa
      721 ttcaaagatg caggcctcag tatcttcaat aacatttgga gtcatgttca tgattttaca
      781 cctgtgtcag gagagctcaa ctggagcctt cttccagaaa atgccgtggt tcaagactat
      841 gttcctatcc caatgactga agaattcaaa gctgtgcgaa tttccacaga agccaataga
      901 agcattgttc ctgtgtcccg gggtcagaga cagaagtaca gtgatgaatc atgtcttgtg
      961 gtattatttg ccgatgatta tacaactgca aatgccagga aactaattga tgagatggtt
     1021 ggtaaaggct tctccctagt gcagacaaag gaaatgtcaa tgaaaactga agacgcccaa
     1081 agggttttcc aggaaaaggc atcagatttt ttacttcttc taaacaaagg tcctgtgatt
     1141 gccttggaat ttaatggaga tgacgctgta caagaatgtc accttattgt aaatgggatg
     1201 ttcaacggga caaagatgtt tgtatcagaa aagaaggaga ccgcatctgg agatgttgat
     1261 agcttctata actttgctga gatccagatg gggatatgaa gcggattgtg gtattaagcc
     1321 ccttccatcc tttatataca gacagtttga taatatcctt acatatgtta gtcatttagc
     1381 aattagtaat ttttactaat gctataattg ttaaaagcta tttttaaata actctttgaa
     1441 taccatatta tttacttgag tatctaaaat aattcattta aattgagtag ttttaatcat
     1501 aaactattta acttgcttca gtaagcttgc agttttattt cttttcatac aatagtctta
     1561 ttaggaaata atcatgattt tattcctaat taaaagttct ttcatatctc tggtaattta
     1621 aactttccaa cttaccttag tgctctatga taattcattt aagaatatat tttgtttctt
     1681 attttctctt ttaatttaga ggcatttgtt actaggtgaa attaaataaa cctatgcact
     1741 ttaaaaaaat acatacatag ccagttaaat aatcatttcc ttcttgcatt atatgactaa
     1801 tgagattttg tacatggagt tgacatacta ttttgtaaat tgggagattt ttttaaaatg
     1861 ggtatttgaa agctgaatgt ggtcatggca tatgtagtcc caggctactt gggatgccta
     1921 agtggaagaa tcacttgagt tcaggagttc aagaacagct ttggcaagta agaaaaggct
     1981 aagataacca gctttgcaaa tacttctaac tgatcctggc attgctggtt taaggactac
     2041 ttccaagtag tacagctgat ttctaagcac aactgccaga tgattctcct gttttctaat
     2101 aagaaaaagt tagatacaac ataaaactat agaacaccaa tgaccaagca gggcgtggtg
     2161 gcacacgcct ttaatgccag cactggggag gcagaggcag gctgatttct gagtttgagg
     2221 ccagcctggt ctacagagtg agttccagga cagccagggc tatacagaga aaccctgtct
     2281 cgaaaaacaa aacaaaacaa aagaacacca atgagcaaca gatttgacag aggtgatcag
     2341 tgtctgtgac tagctattgt gactagcaag agacctagag caaatcttat aagtaaggaa
     2401 tcttttaagt aaggaacact taggtatgat gataatctag acaggttatt caaaatctcc
     2461 atccattttt tttttttgct catgtcaact agtgttaaag tatgataaaa gttttggtta
     2521 cttgaaatca ttatttctca attctatttg ataatagtaa cttccaggag gaggaatggg
     2581 aattgttcag aaatacacat tgatggatcc agtctaaagg tgcacagatt cagttttcaa
     2641 gggaaactga aatagggtgt attgttatct aaactaatca gttctgaaag tgctgatagg
     2701 gcgattttat catatttggc agggagcaag aacagctttc ataggctcat ttataggact
     2761 caaaatggaa acttttattt ttataaaact gagattgaaa atggccactt gtaaaaattc
     2821 cttccatggt tgttaccaaa agtgtatttt cctgtttaaa gtggttttgg aaactttcag
     2881 gccaacttat aactatcatg ttgaattgta aatgtgtaga aataatgctt ttttattttg
     2941 aattaataat attgagtacc tacactgtgc ctagcctacc atcagcattt caacatttct
     3001 tttattataa gagcatcatg ttctacagag tcaatatgat ctcataaggt gcaaataaaa
     3061 actgctggca gggcaggtat aataatttct atcatagttt acaaatggtc tttgcaaata
     3121 gtgatcagag gcattaacgt ttccctgagc taagctaaat taaatgcatt cttttctgcc
     3181 ttgattatat tactaatttt ctttacccac atttgaaata atctcaatac ttgctatttc
     3241 aaaactaaaa tgcaatgtta tagggggtat acattgagtt tttaatcgta tcaataatgg
     3301 tgtgtaaaaa ctcaagaata ttatataaag gagacattaa tttaagattt tcccaccaaa
     3361 tttagtatgt taaccaaaac ctaaaacttt atatccattt agatgggaac tttttacaag
     3421 tacttttatg ttgtttctgc aagtctagac ttcaatagta atcatgatat actaactata
     3481 ttttatttct gaatagtttt ttaaattcat gaaaaattaa tagccatgaa aactgatttt
     3541 attgtcatat ttgtttaagc atcttattag tttacttctc ttgcattaat agtactgcta
     3601 tattttgggt ctgtatattt atatgtggca tttataaaat tatctagtgt tttaaaaata
     3661 ctttgaaata aatattaaaa ttaaaatggt tcaatgctac ttttttgaag agtactctat
     3721 atttactcat acttgtacca aaatttgata aaatttttat tttcttttgg gtgttttgtt
     3781 atacaacttt taattttaaa aacaaaataa agtggtctaa tctctgtttt atactaatga
     3841 gaaatgaact gttaaactgc gtgtgtatgt atttgatgta tatatgtgca tgtgtatata
     3901 cacaaggtac tctaaagaaa tgaaaaggaa gaaacatatt ttgatataag gaatttacat
     3961 catgttttct ttgctaaaat aagtcacatt ttgttatggg tgaatatttg ctaagattag
     4021 gcatctttcc ttccatattt taaaaatatg ctgggtatag catatacaat tgtaattcta
     4081 gtactcagga attcaaggcc agcctaggtt atatattgaa ttccaggcca gtctgggcta
     4141 tatagcaaga gcctgcctca aaaaataaag aagtgtgata aattttcatt caggcttata
     4201 aaagtagatg gtatttttta ttgtcaagtt taccagtctt tgtcctcctt tcctatctca
     4261 caaaacaaat actgaaagtg caaattggtt tgtttgtaaa aagataacat tatgtttatt
     4321 tctacttata aaggttcaac aagtacatta agaacatttg gagcattgag aacaagcaga
     4381 aatgataaca caataataaa attgcttcct gttggatatt tc
//
