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2024-04-17 01:17:55, 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 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
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