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2020-10-24 06:42:46, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_024577              26588 bp    mRNA    linear   PRI 02-JUN-2013
DEFINITION  Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2),
            mRNA.
ACCESSION   NM_024577 XM_352958
VERSION     NM_024577.3  GI:94538341
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 26588)
  AUTHORS   Lassuthova,P., Gregor,M., Sarnova,L., Machalova,E., Sedlacek,R. and
            Seeman,P.
  TITLE     Clinical, in silico, and experimental evidence for pathogenicity of
            two novel splice site mutations in the SH3TC2 gene
  JOURNAL   J. Neurogenet. 26 (3-4), 413-420 (2012)
   PUBMED   22950825
  REMARK    GeneRIF: This study presented evidence that mutations c.279G --> A
            and c.3676-8G -->A in the SH3TC2 gene cause aberrant splicing and
            are therefore pathogenic and causal for CMT4C.
REFERENCE   2  (bases 1 to 26588)
  AUTHORS   Roberts,R.C., Peden,A.A., Buss,F., Bright,N.A., Latouche,M.,
            Reilly,M.M., Kendrick-Jones,J. and Luzio,J.P.
  TITLE     Mistargeting of SH3TC2 away from the recycling endosome causes
            Charcot-Marie-Tooth disease type 4C
  JOURNAL   Hum. Mol. Genet. 19 (6), 1009-1018 (2010)
   PUBMED   20028792
  REMARK    GeneRIF: Mistargeting of SH3TC2 away from the recycling endosome is
            the fundamental molecular defect that leads to Charcot-Marie-Tooth
            disease type 4C.
REFERENCE   3  (bases 1 to 26588)
  AUTHORS   Lupo,V., Galindo,M.I., Martinez-Rubio,D., Sevilla,T., Vilchez,J.J.,
            Palau,F. and Espinos,C.
  TITLE     Missense mutations in the SH3TC2 protein causing
            Charcot-Marie-Tooth disease type 4C affect its localization in the
            plasma membrane and endocytic pathway
  JOURNAL   Hum. Mol. Genet. 18 (23), 4603-4614 (2009)
   PUBMED   19744956
  REMARK    GeneRIF: Missense mutations in the SH3TC2 causing
            Charcot-Marie-Tooth disease type 4C affect its localization to
            plasma membrane.
REFERENCE   4  (bases 1 to 26588)
  AUTHORS   Trynka,G., Zhernakova,A., Romanos,J., Franke,L., Hunt,K.A.,
            Turner,G., Bruinenberg,M., Heap,G.A., Platteel,M., Ryan,A.W., de
            Kovel,C., Holmes,G.K., Howdle,P.D., Walters,J.R., Sanders,D.S.,
            Mulder,C.J., Mearin,M.L., Verbeek,W.H., Trimble,V., Stevens,F.M.,
            Kelleher,D., Barisani,D., Bardella,M.T., McManus,R., van Heel,D.A.
            and Wijmenga,C.
  TITLE     Coeliac disease-associated risk variants in TNFAIP3 and REL
            implicate altered NF-kappaB signalling
  JOURNAL   Gut 58 (8), 1078-1083 (2009)
   PUBMED   19240061
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 26588)
  AUTHORS   Houlden,H., Laura,M., Ginsberg,L., Jungbluth,H., Robb,S.A.,
            Blake,J., Robinson,S., King,R.H. and Reilly,M.M.
  TITLE     The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2
            mutations and possible predisposition to an inflammatory neuropathy
  JOURNAL   Neuromuscul. Disord. 19 (4), 264-269 (2009)
   PUBMED   19272779
  REMARK    GeneRIF: Structural alterations to the SH3TC2 gene could possibly
            predispose to peripheral nerve inflammation.
REFERENCE   6  (bases 1 to 26588)
  AUTHORS   Gooding,R., Colomer,J., King,R., Angelicheva,D., Marns,L.,
            Parman,Y., Chandler,D., Bertranpetit,J. and Kalaydjieva,L.
  TITLE     A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene,
            causes variable peripheral neuropathy phenotypes
  JOURNAL   J. Med. Genet. 42 (12), E69 (2005)
   PUBMED   16326826
  REMARK    GeneRIF: a founder mutation, p.Arg1109X in the CMT4C gene, causes
            variable peripheral neuropathy phenotypes
REFERENCE   7  (bases 1 to 26588)
  AUTHORS   Wan,D., Gong,Y., Qin,W., Zhang,P., Li,J., Wei,L., Zhou,X., Li,H.,
            Qiu,X., Zhong,F., He,L., Yu,J., Yao,G., Jiang,H., Qian,L., Yu,Y.,
            Shu,H., Chen,X., Xu,H., Guo,M., Pan,Z., Chen,Y., Ge,C., Yang,S. and
            Gu,J.
  TITLE     Large-scale cDNA transfection screening for genes related to cancer
            development and progression
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 101 (44), 15724-15729 (2004)
   PUBMED   15498874
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 Dec 14:101(50):17565]
REFERENCE   8  (bases 1 to 26588)
  AUTHORS   Senderek,J., Bergmann,C., Stendel,C., Kirfel,J., Verpoorten,N., De
            Jonghe,P., Timmerman,V., Chrast,R., Verheijen,M.H., Lemke,G.,
            Battaloglu,E., Parman,Y., Erdem,S., Tan,E., Topaloglu,H., Hahn,A.,
            Muller-Felber,W., Rizzuto,N., Fabrizi,G.M., Stuhrmann,M.,
            Rudnik-Schoneborn,S., Zuchner,S., Michael Schroder,J., Buchheim,E.,
            Straub,V., Klepper,J., Huehne,K., Rautenstrauss,B., Buttner,R.,
            Nelis,E. and Zerres,K.
  TITLE     Mutations in a gene encoding a novel SH3/TPR domain protein cause
            autosomal recessive Charcot-Marie-Tooth type 4C neuropathy
  JOURNAL   Am. J. Hum. Genet. 73 (5), 1106-1119 (2003)
   PUBMED   14574644
  REMARK    GeneRIF: mutations in an uncharacterized transcript, KIAA1985, in
            12 families with autosomal recessive neuropathy
REFERENCE   9  (bases 1 to 26588)
  AUTHORS   Hiroi,T., Hayashi-Kobayashi,N., Nagumo,S., Ino,M., Okawa,Y.,
            Aoba,A. and Matsui,H.
  TITLE     Identification and characterization of the human serotonin-4
            receptor gene promoter
  JOURNAL   Biochem. Biophys. Res. Commun. 289 (2), 337-344 (2001)
   PUBMED   11716477
  REMARK    GeneRIF: This paper presents an analysis of the SH3TC2 promoter
            after identifying a read-through transcript of the SH3TC2 and HTR4
            loci. Available data suggests HTR4 is a separate locus with its own
            promoter, and not the product of a bi-cistronic transcript.
REFERENCE   10 (bases 1 to 26588)
  AUTHORS   LeGuern,E., Guilbot,A., Kessali,M., Ravise,N., Tassin,J.,
            Maisonobe,T., Grid,D. and Brice,A.
  TITLE     Homozygosity mapping of an autosomal recessive form of
            demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33
  JOURNAL   Hum. Mol. Genet. 5 (10), 1685-1688 (1996)
   PUBMED   8894708
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA856608.1, AY341075.1,
            AC011364.4, AC116312.2 and AF086088.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 4, 2006 this sequence version replaced gi:38488691.
            
            Summary: This gene encodes a protein with two N-terminal Src
            homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR)
            motifs, and is a member of a small gene family. The gene product
            has been proposed to be an adapter or docking molecule. Mutations
            in this gene result in autosomal recessive Charcot-Marie-Tooth
            disease type 4C, a childhood-onset neurodegenerative disease
            characterized by demyelination of motor and sensory neurons.
            [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 :: AY341075.1, BC113879.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025082, ERS025083 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-50                DA856608.1         1-50
            51-4109             AY341075.1         1-4059
            4110-19578          AC011364.4         29354-44822         c
            19579-26271         AC116312.2         1-6693
            26272-26588         AF086088.1         1-317
FEATURES             Location/Qualifiers
     source          1..26588
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q32"
     gene            1..26588
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /note="SH3 domain and tetratricopeptide repeats 2"
                     /db_xref="GeneID:79628"
                     /db_xref="HGNC:29427"
                     /db_xref="HPRD:10496"
                     /db_xref="MIM:608206"
     exon            1..204
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    138..140
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /note="upstream in-frame stop codon"
     CDS             153..4019
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /note="SH3 domain and tetratricopeptide repeats-containing
                     protein 2"
                     /codon_start=1
                     /product="SH3 domain and tetratricopeptide
                     repeat-containing protein 2"
                     /protein_id="NP_078853.2"
                     /db_xref="GI:38488692"
                     /db_xref="CCDS:CCDS4293.1"
                     /db_xref="GeneID:79628"
                     /db_xref="HGNC:29427"
                     /db_xref="HPRD:10496"
                     /db_xref="MIM:608206"
                     /translation="
MGGCFCIPRERSLTRGPGKETPSKDPTVSSECIASSEYKEKCFLPQNINPDLTLSFCVKSRSRRCVNGPLQEAARRRLWALENEDQEVRMLFKDLSARLVSIQSQRAQFLITFKTMEEIWKFSTYLNLGYVSMCLEHLLFDHKYWLNCILVEDTEIQVSVDDKHLETIYLGLLIQEGHFFCRALCSVTPPAEKEGECLTLCKNELISVKMAEAGSELEGVSLVTGQRGLVLVSALEPLPLPFHQWFLKNYPGSCGLSRKRDWTGSYQIGRGRCKALTGYEPGEKDELNFYQGESIEIIGFVIPGLQWFIGKSTSSGQVGFVPTRNIDPDSYSPMSRNSAFLSDEERCSLLALGSDKQTECSSFLHTLARTDITSVYRLSGFESIQNPPNDLSASQPEGFKEVRPGRAWEEHQAVGSRQSSSSEDSSLEEELLSATSDSYRLPEPDDLDDPELLMDLSTGQEEEAENFAPILAFLDHEGYADHFKSLYDFSFSFLTSSFYSFSEEDEFVAYLEASRKWAKKSHMTWAHARLCFLLGRLSIRKVKLSQARVYFEEAIHILNGAFEDLSLVATLYINLAAIYLKQRLRHKGSALLEKAGALLACLPDRESSAKHELDVVAYVLRQGIVVGSSPLEARACFLAIRLLLSLGRHEEVLPFAERLQLLSGHPPASEAVASVLSFLYDKKYLPHLAVASVQQHGIQSAQGMSLPIWQVHLVLQNTTKLLGFPSPGWGEVSALACPMLRQALAACEELADRSTQRALCLILSKVYLEHRSPDGAIHYLSQALVLGQLLGEQESFESSLCLAWAYLLASQAKKALDVLEPLLCSLKETESLTQRGVIYNLLGLALQGEGRVNRAAKSYLRALNRAQEVGDVHNQAVAMANLGHLSLKSWAQHPARNYLLQAVRLYCELQASKETDMELVQVFLWLAQVLVSGHQLTHGLLCYEMALLFGLRHRHLKSQLQATKSLCHFYSSVSPNPEACITYHEHWLALAQQLRDREMEGRLLESLGQLYRNLNTARSLRRSLTCIKESLRIFIDLGETDKAAEAWLGAGRLHYLMQEDELVELCLQAAIQTALKSEEPLLALKLYEEAGDVFFNGTRHRHHAVEYYRAGAVPLARRLKAVRTELRIFNKLTELQISLEGYEKALEFATLAARLSTVTGDQRQELVAFHRLATVYYSLHMYEMAEDCYLKTLSLCPPWLQSPKEALYYAKVYYRLGRLTFCQLKDAHDATEYFLLALAAAVLLGDEELQDTIRSRLDNICQSPLWHSRPSGCSSERARWLSGGGLAL
"
     misc_feature    966..1130
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /note="Src Homology 3 domain superfamily; Region: SH3;
                     cl17036"
                     /db_xref="CDD:213143"
     misc_feature    order(981..983,987..989,996..998,1008..1010,1068..1073,
                     1116..1118,1122..1127)
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /note="peptide ligand binding site [polypeptide binding];
                     other site"
                     /db_xref="CDD:212690"
     misc_feature    1734..1835
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TF17.2);
                     Region: TPR 1"
     misc_feature    2421..2522
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TF17.2);
                     Region: TPR 2"
     misc_feature    2658..2759
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TF17.2);
                     Region: TPR 3"
     misc_feature    2664..2870
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /note="Tetratricopeptide repeat; Region: TPR_12;
                     pfam13424"
                     /db_xref="CDD:205602"
     misc_feature    3153..3263
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TF17.2);
                     Region: TPR 4"
     misc_feature    3402..3506
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TF17.2);
                     Region: TPR 5"
     misc_feature    3507..3608
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TF17.2);
                     Region: TPR 6"
     misc_feature    3534..3854
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /note="Tetratricopeptide repeat domain; typically contains
                     34 amino acids
                     [WLF]-X(2)-[LIM]-[GAS]-X(2)-[YLF]-X(8)-[ASE]-X(3)-[FYL]-
                     X(2)-[ASL]-X(4)-[PKE] is the consensus sequence; found in
                     a variety of organisms including bacteria, cyanobacteria,
                     yeast, fungi; Region: TPR; cd00189"
                     /db_xref="CDD:29151"
     misc_feature    order(3534..3536,3540..3545,3552..3557,3660..3665,
                     3669..3674,3681..3686,3792..3797,3804..3809,3819..3824)
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /note="binding surface"
                     /db_xref="CDD:29151"
     misc_feature    order(3549..3551,3585..3587,3597..3599,3606..3608,
                     3669..3671,3705..3707,3717..3719,3726..3728,3801..3803,
                     3840..3842,3852..3854)
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /note="TPR motif; other site"
                     /db_xref="CDD:29151"
     misc_feature    3642..3854
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /note="TPR repeat; Region: TPR_11; pfam13414"
                     /db_xref="CDD:205592"
     misc_feature    3648..3749
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TF17.2);
                     Region: TPR 7"
     misc_feature    3780..3884
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TF17.2);
                     Region: TPR 8"
     exon            205..303
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /inference="alignment:Splign:1.39.8"
     exon            304..431
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /inference="alignment:Splign:1.39.8"
     exon            432..537
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /inference="alignment:Splign:1.39.8"
     exon            538..681
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /inference="alignment:Splign:1.39.8"
     exon            682..883
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /inference="alignment:Splign:1.39.8"
     exon            884..957
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /inference="alignment:Splign:1.39.8"
     exon            958..1153
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /inference="alignment:Splign:1.39.8"
     exon            1154..1287
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /inference="alignment:Splign:1.39.8"
     exon            1288..1329
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /inference="alignment:Splign:1.39.8"
     exon            1330..3024
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /inference="alignment:Splign:1.39.8"
     variation       1346
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1432793"
     variation       1739
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1432794"
     exon            3025..3205
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /inference="alignment:Splign:1.39.8"
     exon            3206..3356
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /inference="alignment:Splign:1.39.8"
     exon            3357..3479
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /inference="alignment:Splign:1.39.8"
     exon            3480..3630
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /inference="alignment:Splign:1.39.8"
     exon            3631..3827
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /inference="alignment:Splign:1.39.8"
     exon            3828..26580
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /inference="alignment:Splign:1.39.8"
     variation       4272
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:200769278"
     polyA_signal    4754..4759
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
     polyA_site      4778
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
     variation       5928
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:998304"
     variation       6716
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201242333"
     STS             6769..6892
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /standard_name="RH70055"
                     /db_xref="UniSTS:3500"
     variation       6919
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:3763019"
     variation       6975
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3763020"
     STS             7215..7358
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /standard_name="D5S2654"
                     /db_xref="UniSTS:62169"
     variation       7215
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3763022"
     polyA_signal    7359..7364
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
     polyA_site      7384
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
     STS             7938..8125
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /standard_name="STS-N34331"
                     /db_xref="UniSTS:15069"
     polyA_signal    8266..8271
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
     polyA_site      8289
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
     variation       10487
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:202090121"
     STS             12494..12604
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /standard_name="D11S2921"
                     /db_xref="UniSTS:152074"
     STS             14972..15288
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /standard_name="SHGC-81207"
                     /db_xref="UniSTS:102029"
     variation       15409
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3213854"
     variation       15843
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:199625952"
     STS             15854..16001
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /standard_name="STS-R77678"
                     /db_xref="UniSTS:25417"
     polyA_signal    17968..17973
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
     polyA_site      17998
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
     variation       18785
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:891919"
     variation       18875
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:891920"
     STS             20666..20937
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /standard_name="D5S413"
                     /db_xref="UniSTS:16085"
     STS             20753..20959
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /standard_name="AFM198zh6"
                     /db_xref="UniSTS:92050"
     variation       20919
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /replace=""
                     /replace="ac"
                     /db_xref="dbSNP:66845270"
     variation       23059
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:930205"
     variation       23938
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2217638"
     polyA_signal    26560..26565
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
     polyA_site      26580
                     /gene="SH3TC2"
                     /gene_synonym="CMT4C; MNMN"
ORIGIN      
atatcaaaggctgcattgtgcattgagcaggcctcggtccctcgtgtgccagggaggaggcgggaggagggacaccgttgggaggctgtcccttgcagcactcttctggcctgtgttcccaagggcctcggccagggtaggatggtacacacatgggtggctgcttctgcatccccagggagcggagtctgacccggggcccaggtaaagaaactccttccaaggatccaactgtatcgagtgagtgtatagcctcatctgaatacaaggaaaaatgttttctgccacagaacattaatccagacctgacactctccttctgtgtaaagagccgctccaggaggtgtgtaaatggacccctacaggaagctgctcggaggcggctctgggcactggagaatgaggaccaggaggtgcgcatgctgtttaaggacctctcagcaaggttggtcagtatccagtctcagagggcccagtttctcatcaccttcaagaccatggaggaaatctggaagttctccacctaccttaatttaggctacgtatccatgtgtctagaacatctcctctttgaccacaagtactggctcaactgcatattggtggaggatacagagatccaagtgtctgtagatgataaacacctggaaacaatatacctgggactcctgatacaggaaggccacttcttctgcagagccctgtgctccgtgactccaccagccgagaaggaaggggaatgcttgacactttgcaagaatgagttaatctcagtgaagatggcagaagctggctccgagttggaaggcgtgtctttggtgacaggtcagcggggcctggtactggtgtcagccttggagcctctgcctctccctttccaccagtggttcctaaagaattatccaggaagctgtggcctttccaggaagagggattggacaggctcctatcagattggcagaggacgctgtaaggccttgacgggttatgagccaggagaaaaggatgaactgaatttctaccagggagaaagcattgagatcatcggctttgtcatacctgggcttcagtggttcattggaaagtcgacaagttcaggacaagtgggctttgtccccaccaggaacatagatcctgattcttattccccaatgagcaggaactctgcctttctcagtgatgaggagagatgctccctgttggccctgggaagtgataagcagactgagtgttccagcttcctccacactcttgctcgcactgacatcacatctgtctaccggctcagtgggtttgaatccatccagaatcctccaaatgatctgagtgcatcccagcctgaaggtttcaaggaggtcaggcctggcagagcctgggaggagcatcaggccgtggggtccagacagtccagcagctctgaggactccagcctggaggaggagctcctctcggccacctcagacagctatcgcctgccggagcctgatgaccttgatgacccggaactgctcatggacctaagcactggtcaggaggaggaggctgagaacttcgcccccatattggcttttctggatcatgagggttatgctgaccactttaagagtctctatgacttctccttctctttcctcacttcttccttttatagcttctctgaggaggatgagtttgtggcctacctggaggcatcaagaaagtgggccaagaagagccacatgacctgggcccatgcccgtctctgcttcctcctgggccggctgagcatcaggaaggtcaaactctctcaggccagggtgtacttcgaggaggccatccacattctcaatggagcatttgaggacctatccttggtggccactctgtacatcaatttggctgccatctacctgaaacagaggctgagacataaaggctccgccctgttggaaaaggcaggtgccctgctggcctgcctgcctgaccgtgagtctagtgccaagcatgaactcgacgtggtggcctacgtgctgcgccaggggattgtggtgggcagcagcccgctggaggccagggcctgctttctggccatccgcttgctcctgagcctaggccggcacgaggaggtcctgccctttgccgagcgcctgcagctcctctctggacaccctcctgcctctgaggctgtggccagtgttttgagttttctgtatgacaagaaatatcttccacaccttgcagtggcctctgtccagcaacatggtatccagagtgcccaagggatgtctcttcctatttggcaggtccaccttgtcctccagaacacaaccaagctccttggctttccttccccaggctggggtgaagtttctgccttggcctgcccaatgctcagacaggccctggctgcctgtgaggaactagcagaccggagcacccagagggccctgtgtctcatcctttccaaagtgtacctcgagcacaggtctcctgacggtgccatccactacctgagccaggccttggtgctagggcagctgctgggtgagcaggaatcctttgagtcttctctctgcctggcatgggcctatctcttagccagccaggccaagaaggctttggatgtgcttgagccactgctatgctccctgaaggagacagagagtctcactcaaaggggagtcatctataacctcctgggacttgcactccaaggtgaaggccgggtgaacagggcagccaagagctatcttcgggccttgaacagagcccaggaggtgggagatgtgcataaccaggcagtggctatggccaatcttggccacctgagccttaagtcctgggctcagcatccagccagaaactatctcctgcaggctgtacgactctattgtgaacttcaggccagtaaggagacagacatggaattagtacaggtgtttctctggttggcccaagttctggtgtctggacaccagctgacccatggccttctttgttatgaaatggcattgctgtttggcttaaggcatcgacatctaaagagtcagcttcaggccaccaaatccctctgccatttctacagctctgtgtccccaaaccctgaggcatgcatcacctaccatgagcactggctggccctggctcagcaactcagggaccgggagatggaagggaggctgctggagtccctggggcagctttatcggaacctaaataccgccaggtccctcaggaggtcactcacatgcatcaaggagagcctgcgtatcttcattgacctgggggagacagacaaggctgctgaggcctggcttggggcggggcgactccactacctcatgcaggaagacgagctggtggagctgtgcctgcaggcagccatccagacagccctgaagtcagaggagcctttgctggctctcaaactttatgaagaagcaggtgatgtgttcttcaatgggacccgccacaggcatcatgcagtggagtactaccgagctggagctgttcctttagcaaggaggttgaaggcggtgagaactgagctccggattttcaataagctgacagagctgcagattagcctcgaaggctatgagaaggctttggaatttgccaccctggccgccaggctcagcacagtcacaggagatcagaggcaagagctggtggcctttcaccgcctggctacagtgtactactccctgcacatgtatgagatggctgaggactgctacctgaagaccctgtccctctgtccaccatggctgcagagtcccaaggaggccctgtactatgccaaggtgtattatcgcctgggcagactcaccttctgccagctgaaggatgcccatgatgccactgagtacttccttctggccctggcagcagcggtcctgctgggtgatgaggagcttcaggacaccattaggagcaggctggacaacatctgccagagccccctgtggcacagcaggccctccgggtgctcctcagagagggcgcggtggctgagtggtggtggcctggccctctgaggaaagctgtcctgtctctggacatttggcatggccagactctgaccccactgccctaggctcttaaatactcattgggagggtccgagtccttacctggcctagccccctcatttcacaagaagaagaatgaagtccaggaggagaagggctcattgcaggccacagaaagatttgatggtgcagcgatgagaattcctggttccaggctttgcatctggagcctttaccggttgactgttgccttccacacaaacagcctctgaaaagcactttctccatacataattctggagaagatgagggatcttgccctccaggagccttccttcctcccccaatgaggaaatcagtcactgcactggtgcaaaggcaagcagattggaatttgtgctcttcaccgattttctcagggaaagaccccttccccttgccagcagaggaacctgtagttttttccatttctttcttcagaaccaaagtatgtatcactcctcatgctcacagggattgacaggagagaattcaccaggatcttagctcaaaagacacagcctcagaatggccagatggattgcacgaaacctgacttggattcaccatcttcctcctgccataaggctgtgctcccacataacctcccagaagctccagggaagctttccaagagcaaaggcttggaaattgaatgttaagaaaattatgacataaattacatgtaaatagtgtatatgattaaatattgtccagttacatttacacacacattttgtctcatccacaatgggggcagatgagatggaggacttgatggatgggagagaataccaatacatgtcttttttttttttttttttttttgagacagtttctcctctgttgcccaggctggagttcagtggtacagtcagggcttcctgcgacctcagactccggggctcaagtgatcctccagtgtcaacctcctgagtagctggaact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//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:79628 -> Biological process: GO:0032287 [peripheral nervous system myelin maintenance] evidence: IEA
            GeneID:79628 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA
            GeneID:79628 -> Cellular component: GO:0055037 [recycling endosome] evidence: IEA

by @meso_cacase at DBCLS
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