LOCUS       NM_006915               3700 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens RP2 activator of ARL3 GTPase (RP2), mRNA.
ACCESSION   NM_006915
VERSION     NM_006915.3
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 3700)
  AUTHORS   Georgiou,M., Robson,A.G., Uwaydat,S.H., Ji,M.H., Shakarchi,A.F.,
            Pontikos,N., Mahroo,O.A., Cheetham,M.E., Webster,A.R.,
            Hardcastle,A.J. and Michaelides,M.
  TITLE     RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular
            Genetics, and Natural History in a Large Cohort of Female Carriers
  JOURNAL   Am J Ophthalmol 261, 112-120 (2024)
   PUBMED   37977507
  REMARK    GeneRIF: RP2-Associated X-linked Retinopathy: Clinical Findings,
            Molecular Genetics, and Natural History in a Large Cohort of Female
            Carriers.
REFERENCE   2  (bases 1 to 3700)
  AUTHORS   Mansouri,N., Darabi,P., Favaedi,M., Faizmahdavi,H., Nankali,S.,
            Assefi,M., Sharafshah,A. and Omarmeli,V.
  TITLE     A Novel Arg120Pro Mutation in the RP2 Gene in an Iranian Family
            with X-linked Retinitis Pigmentosa: A Case Report
  JOURNAL   Iran J Med Sci 48 (6), 606-611 (2023)
   PUBMED   38094283
  REMARK    GeneRIF: A Novel Arg120Pro Mutation in the RP2 Gene in an Iranian
            Family with X-linked Retinitis Pigmentosa: A Case Report.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3700)
  AUTHORS   Kuruvilla,S.E., Song,E., Raoof,N., van Bysterveldt,K., Oliver,V.F.,
            Hong,S.C., Al-Taie,R., Wilson,G. and Vincent,A.L.
  TITLE     Genotypic and phenotypic characterisation of RP2- and
            RPGR-associated X-linked inherited retinal dystrophy, including
            female manifestations
  JOURNAL   Clin Exp Ophthalmol 51 (4), 300-312 (2023)
   PUBMED   36882936
  REMARK    GeneRIF: Genotypic and phenotypic characterisation of RP2- and
            RPGR-associated X-linked inherited retinal dystrophy, including
            female manifestations.
REFERENCE   4  (bases 1 to 3700)
  AUTHORS   Khrenova,M.G., Bulavko,E.S., Mulashkin,F.D. and Nemukhin,A.V.
  TITLE     Mechanism of Guanosine Triphosphate Hydrolysis by the Visual
            Proteins Arl3-RP2: Free Energy Reaction Profiles Computed with Ab
            Initio Type QM/MM Potentials
  JOURNAL   Molecules 26 (13), 3998 (2021)
   PUBMED   34208932
  REMARK    GeneRIF: Mechanism of Guanosine Triphosphate Hydrolysis by the
            Visual Proteins Arl3-RP2: Free Energy Reaction Profiles Computed
            with Ab Initio Type QM/MM Potentials.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3700)
  AUTHORS   Fujinami,K., Liu,X., Ueno,S., Mizota,A., Shinoda,K., Kuniyoshi,K.,
            Fujinami-Yokokawa,Y., Yang,L., Arno,G., Pontikos,N., Kameya,S.,
            Kominami,T., Terasaki,H., Sakuramoto,H., Nakamura,N., Kurihara,T.,
            Tsubota,K., Miyake,Y., Yoshiake,K., Iwata,T. and Tsunoda,K.
  CONSRTM   Japan Eye Genetics Consortium Study Group
  TITLE     RP2-associated retinal disorder in a Japanese cohort: Report of
            novel variants and a literature review, identifying a
            genotype-phenotype association
  JOURNAL   Am J Med Genet C Semin Med Genet 184 (3), 675-693 (2020)
   PUBMED   32875684
  REMARK    GeneRIF: RP2-associated retinal disorder in a Japanese cohort:
            Report of novel variants and a literature review, identifying a
            genotype-phenotype association.
REFERENCE   6  (bases 1 to 3700)
  AUTHORS   Schwahn,U., Lenzner,S., Dong,J., Feil,S., Hinzmann,B., van
            Duijnhoven,G., Kirschner,R., Hemberger,M., Bergen,A.A.,
            Rosenberg,T., Pinckers,A.J., Fundele,R., Rosenthal,A.,
            Cremers,F.P., Ropers,H.H. 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
REFERENCE   7  (bases 1 to 3700)
  AUTHORS   Thiselton,D.L., Hampson,R.M., Nayudu,M., Van Maldergem,L.,
            Wolf,M.L., Saha,B.K., Bhattacharya,S.S. and Hardcastle,A.J.
  TITLE     Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal
            Xp: a genetically defined 5-cM critical region and exclusion of
            candidate genes by physical mapping
  JOURNAL   Genome Res 6 (11), 1093-1102 (1996)
   PUBMED   8938433
REFERENCE   8  (bases 1 to 3700)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   9  (bases 1 to 3700)
  AUTHORS   Clayton,J.F., Wright,A.F., Jay,M., McKeown,C.M., Dempster,M.,
            Jay,B.S., Bird,A.C. and Bhattacharya,S.S.
  TITLE     Genetic linkage between X-linked retinitis pigmentosa and DNA probe
            DXS7 (L1.28): further linkage data, heterogeneity testing, and risk
            estimation
  JOURNAL   Hum Genet 74 (2), 168-171 (1986)
   PUBMED   2876947
REFERENCE   10 (bases 1 to 3700)
  AUTHORS   Bhattacharya,S.S., Wright,A.F., Clayton,J.F., Price,W.H.,
            Phillips,C.I., McKeown,C.M., Jay,M., Bird,A.C., Pearson,P.L.,
            Southern,E.M. et al.
  TITLE     Close genetic linkage between X-linked retinitis pigmentosa and a
            restriction fragment length polymorphism identified by recombinant
            DNA probe L1.28
  JOURNAL   Nature 309 (5965), 253-255 (1984)
   PUBMED   6325945
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC053530.1 and AL627143.15.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_006915.2.
            
            Summary: The RP2 locus has been implicated as one cause of X-linked
            retinitis pigmentosa. The predicted gene product shows homology
            with human cofactor C, a protein involved in the ultimate step of
            beta-tubulin folding. Progressive retinal degeneration may
            therefore be due to the accumulation of incorrectly-folded
            photoreceptor or neuron-specific tubulin isoforms followed by
            progressive cell death [provided by RefSeq, Jul 2008].
            
            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.
            
            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 :: BC043348.2, SRR1660803.127077.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000218340.4/ ENSP00000218340.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1938              BC053530.1         52-1989
            1939-3700           AL627143.15        41389-43150
FEATURES             Location/Qualifiers
     source          1..3700
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.3"
     gene            1..3700
                     /gene="RP2"
                     /gene_synonym="DELXp11.3; NM23-H10; NME10; TBCCD2; XRP2"
                     /note="RP2 activator of ARL3 GTPase"
                     /db_xref="GeneID:6102"
                     /db_xref="HGNC:HGNC:10274"
                     /db_xref="MIM:300757"
     exon            1..160
                     /gene="RP2"
                     /gene_synonym="DELXp11.3; NM23-H10; NME10; TBCCD2; XRP2"
                     /inference="alignment:Splign:2.1.0"
     CDS             59..1111
                     /gene="RP2"
                     /gene_synonym="DELXp11.3; NM23-H10; NME10; TBCCD2; XRP2"
                     /note="retinitis pigmentosa 2 (X-linked recessive); RP2,
                     ARL3 GTPase activating protein"
                     /codon_start=1
                     /product="protein XRP2"
                     /protein_id="NP_008846.2"
                     /db_xref="CCDS:CCDS14270.1"
                     /db_xref="GeneID:6102"
                     /db_xref="HGNC:HGNC:10274"
                     /db_xref="MIM:300757"
                     /translation="MGCFFSKRRKADKESRPENEEERPKQYSWDQREKVDPKDYMFSG
                     LKDETVGRLPGTVAGQQFLIQDCENCNIYIFDHSATVTIDDCTNCIIFLGPVKGSVFF
                     RNCRDCKCTLACQQFRVRDCRKLEVFLCCATQPIIESSSNIKFGCFQWYYPELAFQFK
                     DAGLSIFNNTWSNIHDFTPVSGELNWSLLPEDAVVQDYVPIPTTEELKAVRVSTEANR
                     SIVPISRGQRQKSSDESCLVVLFAGDYTIANARKLIDEMVGKGFFLVQTKEVSMKAED
                     AQRVFREKAPDFLPLLNKGPVIALEFNGDGAVEVCQLIVNEIFNGTKMFVSESKETAS
                     GDVDSFYNFADIQMGI"
     exon            161..826
                     /gene="RP2"
                     /gene_synonym="DELXp11.3; NM23-H10; NME10; TBCCD2; XRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            827..941
                     /gene="RP2"
                     /gene_synonym="DELXp11.3; NM23-H10; NME10; TBCCD2; XRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            942..1027
                     /gene="RP2"
                     /gene_synonym="DELXp11.3; NM23-H10; NME10; TBCCD2; XRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1028..3700
                     /gene="RP2"
                     /gene_synonym="DELXp11.3; NM23-H10; NME10; TBCCD2; XRP2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3678..3683
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RP2"
                     /gene_synonym="DELXp11.3; NM23-H10; NME10; TBCCD2; XRP2"
                     /note="hexamer: AATAAA"
     polyA_site      3700
                     /gene="RP2"
                     /gene_synonym="DELXp11.3; NM23-H10; NME10; TBCCD2; XRP2"
                     /note="major polyA site"
ORIGIN      
        1 acactctagg aagtgcctga gctagtgagc tggccaacga gctccgcggg ctgggaccat
       61 gggctgcttc ttctccaaga gacggaaggc tgacaaggag tcgcggcccg agaacgagga
      121 ggagcggcca aagcagtaca gctgggatca gcgcgagaag gttgatccaa aagactacat
      181 gttcagtgga ctgaaggatg aaacagtagg tcgcttacct gggacggtag caggacaaca
      241 gtttctcatt caagactgtg agaactgtaa catctatatt tttgatcact ctgctacagt
      301 taccattgat gactgtacta actgcataat ttttctggga cccgtgaaag gcagcgtgtt
      361 tttccggaat tgcagagatt gcaagtgcac attagcctgc caacaatttc gtgtgcgaga
      421 ttgtagaaag ctggaagtct ttttgtgttg tgccactcaa cccatcattg agtcttcctc
      481 aaatatcaaa tttggatgtt ttcaatggta ctatcctgaa ttagctttcc agttcaaaga
      541 tgcagggcta agtatcttca acaatacatg gagtaacatt catgacttta cacctgtgtc
      601 aggagaactc aactggagcc ttcttccaga agatgctgtg gttcaggact atgttcctat
      661 acctactacc gaagagctca aagctgttcg tgtttccaca gaagccaata gaagcattgt
      721 tccaatatcc cggggtcaga gacagaagag cagcgatgaa tcatgcttag tggtattatt
      781 tgctggtgat tacactattg caaatgccag aaaactaatt gatgagatgg ttggtaaagg
      841 ctttttccta gttcagacaa aggaagtgtc catgaaagct gaggatgctc aaagggtttt
      901 tcgggaaaaa gcacctgact tccttcctct tctgaacaaa ggtcctgtta ttgccttgga
      961 gtttaatggg gatggtgctg tagaagtatg tcaacttatt gtaaacgaga tattcaatgg
     1021 gaccaagatg tttgtatctg aaagcaagga gacggcatct ggagatgtag acagcttcta
     1081 caactttgct gatatacaga tgggaatatg aagtgcaatg tggaaccagg acttggtatt
     1141 aagcctttcc caacttgtga atatagaatt tgataataca cttttgtgta ttagcaatgg
     1201 tttttactaa tgctaaaact tttaaagttt attttttaat aaattgttga gtattacatc
     1261 atttacttga ggttcaaaaa taattcattt taaattaagt agttttaatc agcttaaaag
     1321 ctatttaacc cattttaata agcttgcagt tttgtttctc tgcatatgat attcttatta
     1381 gaaaacagaa gtagctaaaa gtttattatt ttaatcctat ttaaatgttc tttcaaatct
     1441 ctaataattt aaactttcct cagtgctcca tgatactttt tttgagactc catatcattg
     1501 cttattttac ctttttcaat ttagagggat ttgttactag tcgatcaatt agaatgaacc
     1561 tatgcacatt tttatgtaca catatccagt tatataattg cttcctagtt gcattatatg
     1621 gcaaatgaga ttttgtacat ggagttgaca taatactttg taaattgaat tttttaaaga
     1681 aataggcatt tgataaccag cttggcaagt aactctacta acagatgttg gtatagctat
     1741 ttaaagacta cttcgtaagt agtatgatta tttgaataaa ttacacattg tttagttttt
     1801 taatacaact gctatatgac tcttctgctt cctgataaga aaaggtatat gcaatgctaa
     1861 aactgtagaa gcccaatcac cagcagtttt taaaaaggtg ataactttta ttagctcttg
     1921 tgggctatca agagaattgg aacaaaacct tgtgactttt aggtaagaaa taggcatgat
     1981 gataagctat gcagattatt aaaaagcttg atacatttga tttttcatta gatatgccat
     2041 tcatatcaag taatgttcaa gtatgataaa attattttgg ttgctttaaa gcactgtttc
     2101 ccaaatctac ctgatcataa taatttacca ggaagcagag gagagctact tgtttaaaaa
     2161 tccacattct tggacccaat cctcagatgc acggattcag tcttcagggg aaactctgtt
     2221 ttaaggggta tgttgtaatc taaagtaatt ggttcaggag gtgtcaatag gttgaacttg
     2281 tgagaaggca ctgaatctgc catccacatc acatatagca gctattatga aatcagcttt
     2341 cataggccta tttttaaaag gaatctgaaa tttaattcta ttttgataaa actaagactg
     2401 aaaataacca cttgtaaaca ttcctatgat tgttactaaa atgtattttc atgtttaaaa
     2461 tgtttttgga tatttttggg ttaataacta ctacattgaa ttgcatgtta aggtgcagaa
     2521 ataatacatt aaaagatttt cactttaaat taattagtaa tattgagcgc tcaccctgtg
     2581 cgtggccttg tgctaaccat tagcactgca tcatttcaat tcttttataa gggcattcaa
     2641 tactacaaaa tcaacatgat ttcataaggt gcaaataaaa gttggtgaca gatttaatat
     2701 aattttgatc acaatttaca aatgatcttt gcaaatagtg gtcagacggc attagttttt
     2761 cccttagtta agctaaatta aagggactcc atcctgttat gattatatta ttattattat
     2821 tattattatt tttgaggtgg agtttcactc ttgttgccca agctggagtg caatggcgcg
     2881 atctcggctc accacaacat ccgcctcctg ggttcaagcg attctcctgc ctcagcctcc
     2941 tgagtagctg ggaatacagg catgcgccac tacacctggc taatttttgt atttttagtt
     3001 gagatggggt ttttccacgt tggtcaggct ggtctcgaac tcctgacctc aggtgatccg
     3061 tccacctcag cctcccaaag agctgggatt acaggtgtga gctaccgcgc ctggccatga
     3121 tgatattatt aaacaccatt attcacattt caaataataa caatactttt tgtttttcaa
     3181 aaataaaatg caatgttata taaagctata aactaagttc tttatgatat ttgagcaaca
     3241 actcaggaat ataacatata agggagatgt taatttaaaa atttccacta cacttattat
     3301 ctattaacca aagcttaaaa ttttgtattc ttctgttaga taagaccttt tacccattta
     3361 atttgtcttt aaggacagtc atttggcttc tgaatgtttg aaacgatttt aaaaaataag
     3421 tagtgctatg gttgtttcta taattctaac ctttgatagt aatcagaatg tattacattt
     3481 catttctgaa tagcttttga atttatgaaa aattattaac aatgaaaaat tggtaatttt
     3541 attaagttat atgtgtttaa atattatatt agcttatttc tcttgcatta atagtactgc
     3601 tgtttttgtt ttgcttcttt atatttatgt ctagctttta tatgtaattt atctagtgtt
     3661 tataaaatgt gatttgtaat aaatgttgtt aaaatgaaaa
//
