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2024-03-30 00:40:00, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_153321               1816 bp    mRNA    linear   PRI 07-JUL-2013
DEFINITION  Homo sapiens peripheral myelin protein 22 (PMP22), transcript
            variant 2, mRNA.
ACCESSION   NM_153321
VERSION     NM_153321.1  GI:24430162
KEYWORDS    RefSeq.
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 1816)
  AUTHORS   Chanson,J.B., Echaniz-Laguna,A., Blanc,F., Lacour,A.,
            Ballonzoli,L., Kremer,S., Namer,I.J., Lannes,B., Tranchant,C.,
            Vermersch,P. and de Seze,J.
  TITLE     Central nervous system abnormalities in patients with PMP22 gene
            mutations: a prospective study
  JOURNAL   J. Neurol. Neurosurg. Psychiatr. 84 (4), 392-397 (2013)
   PUBMED   23243264
  REMARK    GeneRIF: altered PMP22 gene expression induces significant central
            nervous system alterations in patients with hereditary neuropathy
            with liability to pressure palsies and Charcot-Marie-Tooth 1A
REFERENCE   2  (bases 1 to 1816)
  AUTHORS   Lu Y, Vitart V, Burdon KP, Khor CC, Bykhovskaya Y, Mirshahi A,
            Hewitt AW, Koehn D, Hysi PG, Ramdas WD, Zeller T, Vithana EN,
            Cornes BK, Tay WT, Tai ES, Cheng CY, Liu J, Foo JN, Saw SM,
            Thorleifsson G, Stefansson K, Dimasi DP, Mills RA, Mountain J, Ang
            W, Hoehn R, Verhoeven VJ, Grus F, Wolfs R, Castagne R, Lackner KJ,
            Springelkamp H, Yang J, Jonasson F, Leung DY, Chen LJ, Tham CC,
            Rudan I, Vatavuk Z, Hayward C, Gibson J, Cree AJ, MacLeod A, Ennis
            S, Polasek O, Campbell H, Wilson JF, Viswanathan AC, Fleck B, Li X,
            Siscovick D, Taylor KD, Rotter JI, Yazar S, Ulmer M, Li J, Yaspan
            BL, Ozel AB, Richards JE, Moroi SE, Haines JL, Kang JH, Pasquale
            LR, Allingham RR, Ashley-Koch A, Mitchell P, Wang JJ, Wright AF,
            Pennell C, Spector TD, Young TL, Klaver CC, Martin NG, Montgomery
            GW, Anderson MG, Aung T, Willoughby CE, Wiggs JL, Pang CP,
            Thorsteinsdottir U, Lotery AJ, Hammond CJ, van Duijn CM, Hauser MA,
            Rabinowitz YS, Pfeiffer N, Mackey DA, Craig JE, Macgregor S and
            Wong TY.
  CONSRTM   NEIGHBOR Consortium
  TITLE     Genome-wide association analyses identify multiple loci associated
            with central corneal thickness and keratoconus
  JOURNAL   Nat. Genet. 45 (2), 155-163 (2013)
   PUBMED   23291589
REFERENCE   3  (bases 1 to 1816)
  AUTHORS   Taioli,F., Bertolasi,L., Ajena,D., Ferrarini,M., Cabrini,I.,
            Crestanello,A. and Fabrizi,G.M.
  TITLE     Parental mosaicism of a novel PMP22 mutation with a minimal
            neuropathic phenotype
  JOURNAL   J. Peripher. Nerv. Syst. 17 (4), 414-417 (2012)
   PUBMED   23279344
  REMARK    GeneRIF: We describe a novel heterozygous p.Trp39Cys missense
            mutation in the extracellular domain of the peripheral myelin
            protein 22 (PMP22) associated with an early-onset demyelinating
            Charcot-Marie-Tooth type 1 E
REFERENCE   4  (bases 1 to 1816)
  AUTHORS   Jones,E.A., Brewer,M.H., Srinivasan,R., Krueger,C., Sun,G.,
            Charney,K.N., Keles,S., Antonellis,A. and Svaren,J.
  TITLE     Distal enhancers upstream of the Charcot-Marie-Tooth type 1A
            disease gene PMP22
  JOURNAL   Hum. Mol. Genet. 21 (7), 1581-1591 (2012)
   PUBMED   22180461
  REMARK    GeneRIF: A subset of EGR2 and SOX10 consensus sequences are
            essential for enhancer activity of the PMP22 gene.
REFERENCE   5  (bases 1 to 1816)
  AUTHORS   Karadima,G., Floroskufi,P., Koutsis,G., Vassilopoulos,D. and
            Panas,M.
  TITLE     Mutational analysis of PMP22, GJB1 and MPZ in Greek
            Charcot-Marie-Tooth type 1 neuropathy patients
  JOURNAL   Clin. Genet. 80 (5), 497-499 (2011)
   PUBMED   22243284
  REMARK    GeneRIF: our results suggest a low relative CMT1A duplication
            frequency in the Greek population
REFERENCE   6  (bases 1 to 1816)
  AUTHORS   Takahashi,E., Takeda,O., Himoro,M., Nanao,K., Takada,G. and
            Hayasaka,K.
  TITLE     Localization of PMP-22 gene (candidate gene for the
            Charcot-Marie-Tooth disease 1A) to band 17p11.2 by direct R-banding
            fluorescence in situ hybridization
  JOURNAL   Jpn. J. Hum. Genet. 37 (4), 303-306 (1992)
   PUBMED   1297450
REFERENCE   7  (bases 1 to 1816)
  AUTHORS   Martinotti,A., Cariani,C.T., Melani,C., Sozzi,G., Spurr,N.K.,
            Pierotti,M.A. and Colombo,M.P.
  TITLE     Isolation and mapping to 17p12-13 of the human homologous of the
            murine growth arrest specific Gas-3 gene
  JOURNAL   Hum. Mol. Genet. 1 (5), 331-334 (1992)
   PUBMED   1303210
REFERENCE   8  (bases 1 to 1816)
  AUTHORS   Valentijn,L.J., Bolhuis,P.A., Zorn,I., Hoogendijk,J.E., van den
            Bosch,N., Hensels,G.W., Stanton,V.P. Jr., Housman,D.E.,
            Fischbeck,K.H., Ross,D.A. et al.
  TITLE     The peripheral myelin gene PMP-22/GAS-3 is duplicated in
            Charcot-Marie-Tooth disease type 1A
  JOURNAL   Nat. Genet. 1 (3), 166-170 (1992)
   PUBMED   1303229
REFERENCE   9  (bases 1 to 1816)
  AUTHORS   Patel,P.I., Roa,B.B., Welcher,A.A., Schoener-Scott,R., Trask,B.J.,
            Pentao,L., Snipes,G.J., Garcia,C.A., Francke,U., Shooter,E.M.,
            Lupski,J.R. and Suter,U.
  TITLE     The gene for the peripheral myelin protein PMP-22 is a candidate
            for Charcot-Marie-Tooth disease type 1A
  JOURNAL   Nat. Genet. 1 (3), 159-165 (1992)
   PUBMED   1303228
REFERENCE   10 (bases 1 to 1816)
  AUTHORS   Lewis,D.O.
  TITLE     Diagnostic evaluation of the juvenile offender: toward the
            clarification of often overlooked psychopathology
  JOURNAL   Child Psychiatry Hum Dev 6 (4), 198-213 (1976)
   PUBMED   954484
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC019040.2 and U08096.1.
            
            Summary: This gene encodes an integral membrane protein that is a
            major component of myelin in the peripheral nervous system. Various
            mutations of this gene are causes of Charcot-Marie-Tooth disease
            Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with
            liability to pressure palsies. Alternative splicing of this gene
            results in three transcript variants that encode the same protein.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. Expression of this variant is predominant in
            Schwann cells, which express the myelin gene. Variants 1, 2, and 3
            encode the same protein.
            
            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 :: BC019040.2, L03203.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025088, ERS025098 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1816
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p12"
     gene            1..1816
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
                     /note="peripheral myelin protein 22"
                     /db_xref="GeneID:5376"
                     /db_xref="HGNC:9118"
                     /db_xref="HPRD:03059"
                     /db_xref="MIM:601097"
     exon            1..144
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
                     /inference="alignment:Splign:1.39.8"
     exon            145..256
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    158..160
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
                     /note="upstream in-frame stop codon"
     CDS             179..661
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
                     /note="growth arrest-specific 3; PMP-22; growth
                     arrest-specific protein 3"
                     /codon_start=1
                     /product="peripheral myelin protein 22"
                     /protein_id="NP_696996.1"
                     /db_xref="GI:24430163"
                     /db_xref="CCDS:CCDS11168.1"
                     /db_xref="GeneID:5376"
                     /db_xref="HGNC:9118"
                     /db_xref="HPRD:03059"
                     /db_xref="MIM:601097"
                     /translation="
MLLLLLSIIVLHVAVLVLLFVSTIVSQWIVGNGHATDLWQNCSTSSSGNVHHCFSSSPNEWLQSVQATMILSIIFSILSLFLFFCQLFTLTKGGRFYITGIFQILAGLCVMSAAAIYTVRHPEWHLNSDYSYGFAYILAWVAFPLALLSGVIYVILRKRE
"
     misc_feature    182..271
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01453.1);
                     transmembrane region"
     misc_feature    242..637
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
                     /note="PMP-22/EMP/MP20/Claudin family; Region:
                     PMP22_Claudin; pfam00822"
                     /db_xref="CDD:109862"
     misc_feature    299..301
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="glycosylation site"
     misc_feature    371..451
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01453.1);
                     transmembrane region"
     misc_feature    464..535
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01453.1);
                     transmembrane region"
     misc_feature    578..646
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01453.1);
                     transmembrane region"
     exon            257..356
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
                     /inference="alignment:Splign:1.39.8"
     exon            357..497
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
                     /inference="alignment:Splign:1.39.8"
     STS             364..507
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
                     /standard_name="GDB:189307"
                     /db_xref="UniSTS:155589"
     variation       434
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:11545341"
     exon            498..1799
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
                     /inference="alignment:Splign:1.39.8"
     STS             526..730
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
                     /standard_name="GDB:335807"
                     /db_xref="UniSTS:156607"
     STS             685..929
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
                     /standard_name="G10646"
                     /db_xref="UniSTS:50030"
     variation       720
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:13422"
     variation       736
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:11545342"
     variation       776
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
                     /replace=""
                     /replace="caaac"
                     /db_xref="dbSNP:3833123"
     variation       889
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1804193"
     STS             1154..1271
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
                     /standard_name="G62085"
                     /db_xref="UniSTS:139089"
     variation       1187
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
                     /replace=""
                     /replace="ct"
                     /replace="t"
                     /db_xref="dbSNP:16418"
     variation       1238
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:7538"
     STS             1322..1563
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
                     /standard_name="STS-D11428"
                     /db_xref="UniSTS:22583"
     variation       1482
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1803629"
     variation       1489
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:13027"
     variation       1546
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1804192"
     STS             1610..1716
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
                     /standard_name="D17S2006"
                     /db_xref="UniSTS:50425"
     variation       1772
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:7415"
     polyA_signal    1779..1784
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
     polyA_site      1798
                     /gene="PMP22"
                     /gene_synonym="CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP;
                     Sp110"
                     /experiment="experimental evidence, no additional details
                     recorded"
ORIGIN      
aacgccaggagcctcccactgcccccttgcttcgcgcgcgcgcagccccgcagcgcagctttggcggcgccagcagcggagccaacgcacccgagtttgtgtttgaggccaccctgaggatcgggacagctgttcctttgggctgcagaaactccgctgagcagaacttgccgccagaatgctcctcctgttgctgagtatcatcgtcctccacgtcgcggtgctggtgctgctgttcgtctccacgatcgtcagccaatggatcgtgggcaatggacacgcaactgatctctggcagaactgtagcacctcttcctcaggaaatgtccaccactgtttctcatcatcaccaaacgaatggctgcagtctgtccaggccaccatgatcctgtcgatcatcttcagcattctgtctctgttcctgttcttctgccaactcttcaccctcaccaaggggggcaggttttacatcactggaatcttccaaattcttgctggtctgtgcgtgatgagtgctgcggccatctacacggtgaggcacccggagtggcatctcaactcggattactcctacggtttcgcctacatcctggcctgggtggccttccccctggcccttctcagcggtgtcatctatgtgatcttgcggaaacgcgaatgaggcgcccagacggtctgtctgaggctctgagcgtacatagggaagggaggaagggaaaacagaaagcagacaaagaaaaaagagctagcccaaaatcccaaactcaaaccaaaccaaacagaaagcagtggaggtgggggttgctgttgattgaagatgtatataatatctccggtttataaaacctatttataacactttttacatatatgtacatagtattgtttgctttttatgttgaccatcagcctcgtgttgagccttaaagaagtagctaaggaactttacatcctaacagtataatccagctcagtatttttgttttgttttttgtttgtttgttttgttttacccagaaataagataactccatctcgccccttccctttcatctgaaagaagatacctccctcccagtccacctcatttagaaaaccaaagtgtgggtagaaaccccaaatgtccaaaagcccttttctggtgggtgacccagtgcatccaacagaaacagccgctgcccgaacctctgtgtgaagctttacgcgcacacggacaaaatgcccaaactggagcccttgcaaaaacacggcttgtggcattggcatacttgcccttacaggtggagtatcttcgtcacacatctaaatgagaaatcagtgacaacaagtctttgaaatggtgctatggatttaccattccttattatcactaatcatctaaacaactcactggaaatccaattaacaattttacaacataagatagaatggagacctgaataattctgtgtaatataaatggtttataactgcttttgtacctagctaggctgctattattactataatgagtaaatcataaagccttcatcactcccacatttttcttacggtcggagcatcagaacaagcgtctagactccttgggaccgtgagttcctagagcttggctgggtctaggctgttctgtgcctccaaggactgtctggcaatgacttgtattggccaccaactgtagatgtatatatggtgcccttctgatgctaagactccagaccttttgtttttgctttgcattttctgattttataccaactgtgtggactaagatgcattaaaataaacatcagagtaactcaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:5376 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:5376 -> Biological process: GO:0007268 [synaptic transmission] evidence: TAS
            GeneID:5376 -> Biological process: GO:0007422 [peripheral nervous system development] evidence: TAS
            GeneID:5376 -> Biological process: GO:0008285 [negative regulation of cell proliferation] evidence: IEA
            GeneID:5376 -> Biological process: GO:0010977 [negative regulation of neuron projection development] evidence: IEA
            GeneID:5376 -> Biological process: GO:0032288 [myelin assembly] evidence: IEA
            GeneID:5376 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA
            GeneID:5376 -> Cellular component: GO:0005923 [tight junction] evidence: IEA
            GeneID:5376 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
            GeneID:5376 -> Cellular component: GO:0043218 [compact myelin] evidence: IEA

by @meso_cacase at DBCLS
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