LOCUS       NM_000322               3001 bp    mRNA    linear   PRI 07-OCT-2024
DEFINITION  Homo sapiens peripherin 2 (PRPH2), mRNA.
ACCESSION   NM_000322
VERSION     NM_000322.5
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 3001)
  AUTHORS   Fernandez-Caballero,L., Martin-Merida,I., Blanco-Kelly,F.,
            Avila-Fernandez,A., Carreno,E., Fernandez-San Jose,P., Irigoyen,C.,
            Jimenez-Rolando,B., Lopez-Grondona,F., Mahillo,I.,
            Martin-Gutierrez,M.P., Minguez,P., Perea-Romero,I., Del
            Pozo-Valero,M., Riveiro-Alvarez,R., Rodilla,C., Rodriguez-Pena,L.,
            Sanchez-Barbero,A.I., Swafiri,S.T., Trujillo-Tiebas,M.J.,
            Zurita,O., Garcia-Sandoval,B., Corton,M. and Ayuso,C.
  TITLE     PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103
            Families from a Spanish Cohort
  JOURNAL   Int J Mol Sci 25 (5), 2913 (2024)
   PUBMED   38474159
  REMARK    GeneRIF: PRPH2-Related Retinal Dystrophies: Mutational Spectrum in
            103 Families from a Spanish Cohort.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3001)
  AUTHORS   Bianco,L., Arrigo,A., Antropoli,A., Saladino,A., Spiga,I.,
            Patricelli,M.G., Bandello,F., Carrera,P. and Battaglia Parodi,M.
  TITLE     PRPH2-Associated Retinopathy: Novel Variants and Genotype-Phenotype
            Correlations
  JOURNAL   Ophthalmol Retina 7 (5), 450-461 (2023)
   PUBMED   36563963
  REMARK    GeneRIF: PRPH2-Associated Retinopathy: Novel Variants and
            Genotype-Phenotype Correlations.
REFERENCE   3  (bases 1 to 3001)
  AUTHORS   Wang,Y., Wang,J., Jiang,Y., Zhu,D., Ouyang,J., Yi,Z., Li,S.,
            Jia,X., Xiao,X., Sun,W., Wang,P. and Zhang,Q.
  TITLE     New Insight into the Genotype-Phenotype Correlation of
            PRPH2-Related Diseases Based on a Large Chinese Cohort and
            Literature Review
  JOURNAL   Int J Mol Sci 24 (7), 6728 (2023)
   PUBMED   37047703
  REMARK    GeneRIF: New Insight into the Genotype-Phenotype Correlation of
            PRPH2-Related Diseases Based on a Large Chinese Cohort and
            Literature Review.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3001)
  AUTHORS   Sanlialp,A., Escher,P., Schaller,A. and Todorova,M.
  TITLE     Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous
            PRPH2 Pathogenic Variant
  JOURNAL   Klin Monbl Augenheilkd 240 (4), 536-543 (2023)
   PUBMED   37164409
  REMARK    GeneRIF: Clinical Heterogeneity in Two Siblings Harbouring a
            Heterozygous PRPH2 Pathogenic Variant.
REFERENCE   5  (bases 1 to 3001)
  AUTHORS   Kumaran,N., Pennesi,M.E., Yang,P., Trzupek,K.M., Schlechter,C.,
            Moore,A.T., Weleber,R.G. and Michaelides,M.
  TITLE     Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
            Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   30285347
REFERENCE   6  (bases 1 to 3001)
  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   7  (bases 1 to 3001)
  AUTHORS   Farrar,G.J., Kenna,P., Jordan,S.A., Kumar-Singh,R., Humphries,M.M.,
            Sharp,E.M., Sheils,D. and Humphries,P.
  TITLE     Autosomal dominant retinitis pigmentosa: a novel mutation at the
            peripherin/RDS locus in the original 6p-linked pedigree
  JOURNAL   Genomics 14 (3), 805-807 (1992)
   PUBMED   1427912
  REMARK    Erratum:[Genomics 1993 Feb;15(2):466]
REFERENCE   8  (bases 1 to 3001)
  AUTHORS   Jordan,S.A., Farrar,G.J., Kumar-Singh,R., Kenna,P., Humphries,M.M.,
            Allamand,V., Sharp,E.M. and Humphries,P.
  TITLE     Autosomal dominant retinitis pigmentosa (adRP; RP6): cosegregation
            of RP6 and the peripherin-RDS locus in a late-onset family of Irish
            origin
  JOURNAL   Am J Hum Genet 50 (3), 634-639 (1992)
   PUBMED   1539599
REFERENCE   9  (bases 1 to 3001)
  AUTHORS   Kajiwara,K., Hahn,L.B., Mukai,S., Travis,G.H., Berson,E.L. and
            Dryja,T.P.
  TITLE     Mutations in the human retinal degeneration slow gene in autosomal
            dominant retinitis pigmentosa
  JOURNAL   Nature 354 (6353), 480-483 (1991)
   PUBMED   1684223
REFERENCE   10 (bases 1 to 3001)
  AUTHORS   Travis,G.H., Christerson,L., Danielson,P.E., Klisak,I.,
            Sparkes,R.S., Hahn,L.B., Dryja,T.P. and Sutcliffe,J.G.
  TITLE     The human retinal degeneration slow (RDS) gene: chromosome
            assignment and structure of the mRNA
  JOURNAL   Genomics 10 (3), 733-739 (1991)
   PUBMED   1679750
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL049843.18 and BC074720.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000322.4.
            
            Summary: The protein encoded by this gene is a member of the
            transmembrane 4 superfamily, also known as the tetraspanin family.
            Most of these members are cell-surface proteins that are
            characterized by the presence of four hydrophobic domains. The
            proteins mediate signal transduction events that play a role in the
            regulation of cell development, activation, growth and motility.
            This encoded protein is a cell surface glycoprotein found in the
            outer segment of both rod and cone photoreceptor cells. It may
            function as an adhesion molecule involved in stabilization and
            compaction of outer segment disks or in the maintenance of the
            curvature of the rim. This protein is essential for disk
            morphogenesis. Defects in this gene are associated with both
            central and peripheral retinal degenerations. Some of the various
            phenotypically different disorders are autosomal dominant retinitis
            pigmentosa, progressive macular degeneration, macular dystrophy and
            retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008].
            
            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 :: SRR1803611.105378.1,
                                           SRR1803614.121211.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000230381.7/ ENSP00000230381.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-581               AL049843.18        17558-18138
            582-1172            BC074720.2         345-935
            1173-3001           AL049843.18        41729-43557
FEATURES             Location/Qualifiers
     source          1..3001
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     gene            1..3001
                     /gene="PRPH2"
                     /gene_synonym="AOFMD; AVMD; CACD2; DS; MDBS1; PRPH; rd2;
                     RDS; RP7; TSPAN22"
                     /note="peripherin 2"
                     /db_xref="GeneID:5961"
                     /db_xref="HGNC:HGNC:9942"
                     /db_xref="MIM:179605"
     exon            1..844
                     /gene="PRPH2"
                     /gene_synonym="AOFMD; AVMD; CACD2; DS; MDBS1; PRPH; rd2;
                     RDS; RP7; TSPAN22"
                     /inference="alignment:Splign:2.1.0"
     CDS             264..1304
                     /gene="PRPH2"
                     /gene_synonym="AOFMD; AVMD; CACD2; DS; MDBS1; PRPH; rd2;
                     RDS; RP7; TSPAN22"
                     /note="retinal peripherin; peripherin, photoreceptor type;
                     peripherin 2, homolog of mouse; tetraspanin-22; tspan-22;
                     retinal degeneration slow protein; peripherin 2 (retinal
                     degeneration, slow); choroidal dystrophy, central areolar
                     2"
                     /codon_start=1
                     /product="peripherin-2"
                     /protein_id="NP_000313.2"
                     /db_xref="CCDS:CCDS4871.1"
                     /db_xref="GeneID:5961"
                     /db_xref="HGNC:HGNC:9942"
                     /db_xref="MIM:179605"
                     /translation="MALLKVKFDQKKRVKLAQGLWLMNWFSVLAGIIIFSLGLFLKIE
                     LRKRSDVMNNSESHFVPNSLIGMGVLSCVFNSLAGKICYDALDPAKYARWKPWLKPYL
                     AICVLFNIILFLVALCCFLLRGSLENTLGQGLKNGMKYYRDTDTPGRCFMKKTIDMLQ
                     IEFKCCGNNGFRDWFEIQWISNRYLDFSSKEVKDRIKSNVDGRYLVDGVPFSCCNPSS
                     PRPCIQYQITNNSAHYSYDHQTEELNLWVRGCRAALLSYYSSLMNSMGVVTLLIWLFE
                     VTITIGLRYLQTSLDGVSNPEESESESQGWLLERSVPETWKAFLESVKKLGKGNQVEA
                     EGADAGQAPEAG"
     exon            845..1091
                     /gene="PRPH2"
                     /gene_synonym="AOFMD; AVMD; CACD2; DS; MDBS1; PRPH; rd2;
                     RDS; RP7; TSPAN22"
                     /inference="alignment:Splign:2.1.0"
     exon            1092..3001
                     /gene="PRPH2"
                     /gene_synonym="AOFMD; AVMD; CACD2; DS; MDBS1; PRPH; rd2;
                     RDS; RP7; TSPAN22"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2978..2983
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRPH2"
                     /gene_synonym="AOFMD; AVMD; CACD2; DS; MDBS1; PRPH; rd2;
                     RDS; RP7; TSPAN22"
                     /note="hexamer: ATTAAA"
     polyA_site      3001
                     /gene="PRPH2"
                     /gene_synonym="AOFMD; AVMD; CACD2; DS; MDBS1; PRPH; rd2;
                     RDS; RP7; TSPAN22"
                     /note="major polyA site"
ORIGIN      
        1 ggctgggaag ggcgctgaag aaacaacgcc caggaccagg actatcccct gctcaagctg
       61 tgattccgag acccctgcca ccactactgc attcacgggg atcccaggct agtgggactc
      121 gacatgggta gcccccaggg cagctcccta cagcttgggc catctgcact tttcccaagg
      181 ccctaagtct ccgcctctgg gctcgttaag gtttggggtg ggagctgtgc tgtgggaagc
      241 aacccggact acacttggca agcatggcgc tactgaaagt caagtttgac cagaagaagc
      301 gggtcaagtt ggcccaaggg ctctggctca tgaactggtt ctccgtgttg gctggcatca
      361 tcatcttcag cctaggactg ttcctgaaga ttgaactccg aaagaggagc gatgtgatga
      421 ataattctga gagccatttt gtgcccaact cattgatagg gatgggggtg ctatcctgtg
      481 tcttcaactc gctggctggg aagatctgct acgacgccct ggacccagcc aagtatgcca
      541 gatggaagcc ctggctgaag ccgtacctgg ctatctgtgt tctcttcaac atcatcctct
      601 tccttgtggc tctctgctgc tttctgcttc ggggctcgct ggagaacacc ctgggccaag
      661 ggctcaagaa cggcatgaag tactaccggg acacagacac ccctggcagg tgtttcatga
      721 agaagaccat cgacatgctg cagatcgagt tcaaatgctg cggcaacaac ggttttcggg
      781 actggtttga gattcagtgg atcagcaatc gctacctgga cttttcctcc aaagaagtca
      841 aagatcgaat caagagcaac gtggatgggc ggtacctggt ggacggcgtc cctttcagct
      901 gctgcaatcc tagctcgcca cggccctgca tccagtatca gatcaccaac aactcagcac
      961 actacagtta cgaccaccag acggaggagc tcaacctgtg ggtgcgtggc tgcagggctg
     1021 ccctgctgag ctactacagc agcctcatga actccatggg tgtcgtcacg ctcctcattt
     1081 ggctcttcga ggtgaccatt acaattgggc tgcgctacct acagacgtcg ctggatggtg
     1141 tgtccaaccc cgaggaatct gagagcgaga gccagggctg gctgctggag aggagcgtgc
     1201 cggagacctg gaaggccttt ctggagagtg tgaagaagct gggcaagggc aaccaggtgg
     1261 aagccgaggg cgcagacgca ggccaggccc cagaggctgg ctgagggccc tggggcccct
     1321 cccctcccga acactgagaa atagtgcact ccaagaaacg tggatctccc cctcatccaa
     1381 ctccgaaagt ctgaatctcc caaggagggc accatcttac agagactctc cctgacggtg
     1441 gaatttaagt ttagggtccc taaaagcatt tgacacacag ttgttgaatg actgacccaa
     1501 aatgtgaatg aagctaatgt gaatgtgagt gaagctccct tcaggcccgc tgccctagga
     1561 tatgccctcc tggtgactcg ggggctgtct cagacgacta gcccaggacc catctttctc
     1621 acacggattt agtcccaccc tatggccact ggccgtatct gagggctgct ccccttttag
     1681 aatttacctc ttatgagctc catgttgctt cactctatcc aaagtgtcac ttggtgcata
     1741 agcacagaaa tctgaaaaat ggccatgttg tctttttttt ttttttttaa tgccaagatt
     1801 gacaggttgg ccgtttgctt aatgccagaa gttgggggaa agttacgctt ttctaagaat
     1861 aatggactct taaggcattg agggctctaa acaggattct ttaatcatgg agcaagagaa
     1921 tttcaaggca ggggatttta tcccccacca aaaacacagt gaaaggcctg cttttgtgtc
     1981 ccattcacat gccctcggtc actgagtctg gagtgaacca cgggttgagg aagtcaggct
     2041 gttggcgtgt cccagcacca caccacccct aaagtgccag gtgatctcct gtggctcatc
     2101 ggtggaagca gtggggtagg ctgctgccct gctgtggaag aggagcaaca atcagacatg
     2161 agtccaccct ttggagacca ggcctcagct cttggtgggc ccagggacac ccacacaggt
     2221 ggccatcaca gccccatgga caacactaat tgtccacagc aaagggcaag gaatcctctg
     2281 ggagcttctt ccgtttcttc cccccagata cccatcttga aaaacactat ttctggaatg
     2341 cttctgcatc aaaggagatt ctttgagata gcccatcttc ctgagctagc aaatacagga
     2401 gttttcactt tctttaggaa agagaagctt tcaggggaag gagagaatga ttttgctgac
     2461 ttcccaagcc ctggtgacca gaccaaggca gggcccagca taattcctcc agttggatga
     2521 acattcaaga gagctcgttc ctacctggct ggagaccgag gccagaaggc aaaaaccaga
     2581 aagggaacag tccataactt acctctgctt ctgaccgatg gtgtttggga ataggttact
     2641 ttggactgag tttgggttct ctgctgtcct aagaacttca gtgtagagaa aataagactt
     2701 ctggtgctgc tggggtatgt tctgggctta attcccccaa gcagaagacc agatccaaga
     2761 tgtttggaca ccctgtcaga cgttggtccc aagtttaatt agatttctga atctcgttga
     2821 ggccaaggaa tgatccatac tgaaaaaatg ctgagccagc catctttggc aaaggtccct
     2881 gagctcttgc tatctctcaa gagtgctgag aaccacggtg aaagtgctgc tctaggccca
     2941 caagtgtaac tatgctgtta acagctgtca atagataatt aaaattcata ctgtatgaaa
     3001 a
//
