SH3TC2
قراءة متعمقة

LeGuern E، Guilbot A، Kessali M، وآخرون (1997). "Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33". Hum. Mol. Genet. ج. 5 ع. 10: 1685–8. DOI:10.1093/hmg/5.10.1685. PMID:8894708.
Hiroi T، Hayashi-Kobayashi N، Nagumo S، وآخرون (2002). "Identification and characterization of the human serotonin-4 receptor gene promoter". Biochem. Biophys. Res. Commun. ج. 289 ع. 2: 337–44. DOI:10.1006/bbrc.2001.5979. PMID:11716477.
Kikuno R، Nagase T، Waki M، Ohara O (2002). "HUGE: a database for human large proteins identified in the Kazusa cDNA sequencing project". Nucleic Acids Res. ج. 30 ع. 1: 166–8. DOI:10.1093/nar/30.1.166. PMC:99081. PMID:11752282.
Nagase T، Kikuno R، Ohara O (2002). "Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins". DNA Res. ج. 8 ع. 6: 319–27. DOI:10.1093/dnares/8.6.319. PMID:11853319.
Strausberg RL، Feingold EA، Grouse LH، وآخرون (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. ج. 99 ع. 26: 16899–903. DOI:10.1073/pnas.242603899. PMC:139241. PMID:12477932.
Ota T، Suzuki Y، Nishikawa T، وآخرون (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. ج. 36 ع. 1: 40–5. DOI:10.1038/ng1285. PMID:14702039.
Gerhard DS، Wagner L، Feingold EA، وآخرون (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. ج. 14 ع. 10B: 2121–7. DOI:10.1101/gr.2596504. PMC:528928. PMID:15489334.
Wan D، Gong Y، Qin W، وآخرون (2004). "Large-scale cDNA transfection screening for genes related to cancer development and progression". Proc. Natl. Acad. Sci. U.S.A. ج. 101 ع. 44: 15724–9. DOI:10.1073/pnas.0404089101. PMC:524842. PMID:15498874.
Gooding R، Colomer J، King R، وآخرون (2006). "A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes". J. Med. Genet. ج. 42 ع. 12: e69. DOI:10.1136/jmg.2005.034132. PMC:1735969. PMID:16326826.
Kimura K، Wakamatsu A، Suzuki Y، وآخرون (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. ج. 16 ع. 1: 55–65. DOI:10.1101/gr.4039406. PMC:1356129. PMID:16344560.
Claramunt R، Sevilla T، Lupo V، وآخرون (2007). "The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4". Clin. Genet. ج. 71 ع. 4: 343–9. DOI:10.1111/j.1399-0004.2007.00774.x. PMID:17470135.
| 0 | 1 |
| --- | --- |
معرفات كيميائية:  قاعدة بيانات التتابع المرجعي (RefSeq RNA): NM_024577  
| ع ن جينات الكروموسوم 5 | ع ن جينات الكروموسوم 5 |
| --- | --- |
جينات الكروموسوم 5:  TAF13  CDCA8  CFHR4  RWDD3  CRTC2  EBNA1BP2  KIFAP3  HNRPU  Peflin  VAMP4  S100A13  SEMA6C  MFSD2  FBXO2  CEP104  EIF3I  PDZK1IP1  SLAMF6  CLCN6  ELK4  Trichohyalin  PTBP2  PHC2  EPHA10  NFASC  FHL3  SSR2  CDKN2C  SLC9A11  LHX4  CCDC28B  RIT1  CFHR1  FOXE3  WNT3A  HIST3H3  MRPS21  APH-1  REG4  OR10K1  GJB5  IPO9  CLSPN  TOMM20  MCL1  ATF6  NBPF10  PFDN2  VAV3  LRRN2  ANGPTL3  ZCCHC17  TCTEX1D4  SCMH1  RABIF  CLCA2  NPHS2  CEP350  IVNS1ABP  H6PD  GBP1  SCYL3  VPS13D  EIF4G3  ZNF238  USH2A  CSMD2  ITGB3BP  Matrilin-1  TAL1  CLCNKB  GPSM2  HSPA7  RAP1A  MYCL1  SGIP1  HORMAD1  CYP4X1  CLCA1  INTS7  TSPAN2  SASS6  SESN2  RBBP5  ZNF593  LRRC39  MTX1  UTP11L  ZRANB2  Stratifin  TNFAIP8L2  APOBEC4  AP4B1  SH3GLB1  FCGR2A  ZZZ3  Calponin  TBX19  TACSTD2  PADI1  IPO13  EIF2B3  TEX35  HEATR1  FCN3  GJA4  ATPAF1  UBAP2L  CSRP1  SCP2  PLEKHA6  RERE  HAPLN2  YTHDF2  ALG14  HES3  NOS1AP  TBCE  EDARADD  SLC50A1  SLC45A3  EXTL1  S100A2  CLCC1  GNG4  NFIA  GLMN  LMX1A  VPS45  GATAD2B  SPRR1B  SCAMP3  SMCP  FCER1G  EXOC8  PRDM2  PLD5  CYP4Z1  HES5  CDC73  RBM8A  CD52  S100A16  CD5L  RAB3B  TAF12  RC3H1  TOMM40L  PLEKHG5  ATP1A2  BCL9  SYT6  MRPL55  SOX13  NUCKS1  WDR26  BNIPL  MED18  FCER1A  RAB7B  NDC1  WNT2B  SH2D2A  MDM4  TTF2  Opticin  PAQR7  CFHR5  SLC2A7  Consortin  S100A3  AMY1C  LGTN  CYP4B1  TRIM11  MTFR1L  HSPA6  RGS18  SF3A3  GJB3  GNL2  RRP15  Prokineticin  SH2D1B  GNG12  RCC2  AIM2  FLVCR1  ISG15  NOL9  KIF2C  PRELP  RNF220  ILF2  ARHGEF11  HAX1  Loricrin  RBP7  SMG5  ERMAP  SFRS11  HIST2H2BF  PRKAA2  SLC25A24  TMEM9  NECAP2  SPSB1  CTNNBIP1  INTS3  TXNDC12  DCLRE1B  TNFSF18  TOE1  MRPL20  GIPC2  KPNA6  SLC30A1  DNAJB4  KIF1B  SYT11  INSL5  MMACHC  SSX2IP  PSRC1  YY1AP1  LIX1L  INSRR  PEX11B  WDR3  ARL8A  GON4L  TCEB3  EXTL2  NCDN  ألفا-تاكسلن  MOSC2  GJB4  FBXO28  PNRC2  RCAN3  SFRS4  ZBTB48  PLXNA2  CCT3  CENPF  SPEN  KIF14  TRAPPC3  ARPC5  TRMT13  MMEL1  CAPN9  TROVE2  STX12  INTS11  NAV1  ZBTB7B  SNAPAP  ST3GAL3  UBXD5  FNBP1L  MRPL24  TDRKH  FBLIM1  PYGO2  SPRR2A  SMG7  SERBP1  MPZL1  CATSPERE  NT5C1A  ANKRD13C  OR2G6  ERO1LB  MNDA  SPRTN  Kiaa1107  GJA8  LEFTY2  Myocilin  KIAA0460  FAM132A  RBM34  Syndecan-3  OVGP1  ZNF281  VPS72  GNG5  NHLH1  MARCKSL1  RASAL2  TFAP2E  DEDD  RGS13  TNNI3K  PYCR2  VTCN1  EVI5  RRAGC  GPA33  بريفيكان  CNIH4  OTUD7B  Intelectin-2  DNM3  F13B  S100A14  UBE4B  HIST3H2BB  KLF17  PEX10  WDR8  أرتمين  ARID4B  NRD1  UBIAD1  SSBP3  CREG1  ZC3H12A  LIN9  NKAIN1  AKR7A3  FAF1  POU3F1  LRRC41  ARHGEF2  CFHR2  SNIP1  GORAB  SRRM1  WASF2  E2F2  NPHP4  TMCO1  ZBED6  NFYC  Tenascin-R  RBM15  NUF2  S100A8  C1orf21  VANGL2  SPRR1A  NEGR1  KIF17  MRPL37  ZNF687  Fibromodulin  APOA1BP  CLSTN1  FAM129A  SYT14  THRAP3  LRRC8D  AGBL4  IL22RA1  PRPF3  PAQR6  RAB13  MAD2L2  PTCH2  BCAR3  PAPPA2  SLAMF7  APOA2  RGS1  GMEB1  ZP4  HIST3H2A  SIPA1L2  CLDN19  WDR47  ERRFI1  LSM10  RNF11  MTF1  PPFIA4  HIST2H2AC  PEA15  PADI3  RGS7  FBXO6  STIL  SV2A  PUM1  GNB1  IFI6  CD32  BLZF1  EPHA8  MAGOH  UHMK1  ARF1  INADL  CTTNBP2NL  HIST2H2AB  CFHR3  S100A12  SELENBP1  Phosducin  WNT9A  ZNF364  GNAT2  FCGR1A  NUDC  HIVEP3  CYP4A22  GFI1  SH3BGRL3  C1QA  PSEN2  SLAMF8  IFI16  RGS8  BCAS2  RAB25  SYT2  SF3B4  S100A6  SRGAP2  ANP32E  SYCP1  TMEM59  RFX5  Syncoilin  S100A5  TXNIP  KIRREL  ZBTB17  TINAGL1  PLEKHO1  SPRR3  NOC2L  CASZ1  GJC2  ZBTB40  FOXO6  MIER1  MEAF6  FCMR  ZNF436  MFAP2  DNAJC11  SEMA4A  GJA5  NSL1  POGZ  RGS5  HNRNPR  SDCCAG8  Dermatopontin  TOR1AIP1  CAPN2  LMO4  CACYBP  HOOK1  ANKRD35  FAM20B  HBXIP  SDF4  NBPF16  YIPF1  SLC5A6  ASB1  Spastin  REG3G  PNO1  REG1B  WDR33  EVA1A  PEX13  PXDN  CLASP1  ERLEC1  EML4  TUBA4A  MAPRE3  PELI1  REG1A  ALS2  RTKN  CPSF3  PGAP1  SIX2  YIPF4  ADD2  HOXD8  ABI2  PREB  TSSC1  NIF3L1  HOXD9  NOP58  FEZ2  LRPPRC  MALL  DLX1  MRPL30  MPHOSPH10  HOXD11  DNAJB2  TNS1  EFEMP1  REL  REV1  NPHP1  CENPO  CRYGA  DPP10  LRP1B  PSME4  PCGF1  UBXD2  GCFC2  BCL11A  CEP68  OTOF  INHA  FMNL2  TSG-6  EMILIN1  MRPS9  ECEL1  XIRP2  Dock10  RETSAT  CRYGC  RBMS1  PSCDBP  RAB17  PLEKHB2  NCAPH  TMEM150  IL36B  MRPS5  DNAH7  CD302  SEPT10  RAPH1  BIRC6  SNX17  AFF3  MYO1B  TGOLN2  FARP2  BCS1L  LPIN1  MPV17  Dystrobrevin  MCFD2  CIAO1  GNLY  HES6  B3GNT7  SLC30A3  WNT10A  NCKAP1  NRXN1  RASGRP3  ATG16L1  ACTG2  RAB10  MAP3K19  MRPL19  MRPL33  IL1F10  TMBIM1  IWS1  MEIS1  SNRPG  ASB3  ALS2CR8  OTX1  CAB39  PIGF  TNP1  HADHA  EPB41L5  CCT4  GBX2  DTNB  TXNDC9  DYNC1I2  SERPINE2  BCYRN1  ARHGEF4  KIF1A  MEMO1  ITGB1BP1  IL36G  LYPD1  CCDC88A  HOXD1  LANCL1  CRIPT  ITM2C  GDF7  HOXD10  KIF3C  EIF2B4  GTF3C2  CRYGB  RHOQ  ASTL  ROCK2  HOXD13  MKI67IP  MYL1  CRIM1  IMP4  SDPR  FOSL2  EIF4E2  HS1BP3  CYP26B1  ALPPL2  NRBP1  CCDC93  TRAK2  REG3A  MYT1L  SLC39A10  PRKRA  ZNF638  SH3BP4  ID2  TMEM18  ACTR3  GREB1  SEMA4F  COPS8  Translin  CYP27C1  IL1RL1  CFC1  IL1RL2  DIS3L2  PCBP1  GMCL1  RAMP1  NABP1  DDEF2  USP39  SCG2  PRPF40A  NLRC4  KLF11  STRN  AFTPH  REEP1  IL36A  HDLBP  OBSL1  ANTXR1  KLF7  TMEFF2  SUPT7L  ARMC9  SEPT2  RAB6C  NAB1  RHOB  DNER  TLX2  SPRED2  LRRFIP1  SOX11  HOXD4  MTIF2  GKN1  LBH  UBE2E3  RIF1  CDC42EP3  Plakophilin-4  MAP4K3  PARD3B  N-myc  IGFBP5  LMAN2L  EGR4  FAM49A  RGPD5  ACTR1B  HECW2  ATG9A  KBTBD10  FIGLA  CBWD2  CCT7  STAM2  ATRAID  IKZF2  FAM136A  WBP1  ARPC2  IGFBP2  Matrilin-3  SESTD1  FBXO11  HOXD12  VPS24  SEMA4C  HNRPA3  SSFA2  TMSB10  EIF5B  CREB1  SMC6  CYP20A1  IMMT  SP110  POLE4  RPS27A  CDCA7  LAPTM4A  SPATS2L  COPS7B  LIMS2  KDM3A  CAPN10  KCMF1  CUL3  BCL2L11  HNRNPLL  GCC2  Grancalcin  BOLL  HOXD3  DNAJC10  ORC4  DCTN1  PMS1  SMARCAL1  ANKZF1  COMMD1  TNRC15  KANSL3  DAZL  PBRM1  OSBPL11  GNB4  SEMA3F  SATB1  NKTR  CRELD1  PDCD6IP  SFMBT1  RAP2B  SERPINI2  EIF2B5  AZI2  IL12A  LINC01279  NPRL2  ITIH3  GRASP65  APPL1  CLRN1  ROBO2  EPHA6  DYNC1LI1  SMC4  AMOTL2  HMCES  UBE2E1  ZIC1  TMEM43  DNAH1  ALAS1  ZBTB11  UBE2E2  CACNA2D3  SNX4  IQCB1  LMLN  MED12L  CEP70  RBP2  MTMR14  SH3BP5  MST1  WDR6  TMF1  UBE1C  NISCH  ABI3BP  BHLHB2  HCLS1  RETNLB  NBEAL2  PDZRN3  LRRN1  USP19  PARP3  PLSCR2  LIMD1  Kalirin  IFT80  PLXNB1  HEMK1  SYNPR  SRPRB  NLGN1  EIF5A2  BFSP2  SETD5  ITIH1  RYBP  ABTB1  SELT  MRPS22  STAB1  POLR2H  DCBLD2  RFT1  TOMM70A  POPDC2  CPNE4  RBM5  KPNA4  AP2M1  CCDC50  SEC13  TRA2B  ARMET  RASSF1  SMARCC1  H1FX  CADPS  DIRC2  Prokineticin  CCNL1  KIF15  TRAK1  IGF2BP2  SLC12A8  NAT6  MRPS25  CCDC80  IL1RAP  TBL1XR1  PARL  UCN2  CYP8B1  NFKBIZ  GPD1L  GTF2E1  PHC3  PCOLCE2  FAM107A  CLDN1  CHMP2B  H1FOO  GRIP2  IQSEC1  SLC22A13  SEMA3B  PLSCR5  FGF12  SLMAP  ARL13B  SLCO2A1  DCP1A  TADA3L  EIF2A  SKIL  TTLL3  IL17RD  ZFYVE20  RNF13  MRPL3  RRP9  GNAT1  Giantin  SEC62  ZNF35  CLEC3B  BRK1  PLSCR4  DNAJB11  SOX14  COPB2  SLC9A10  HPS3  ARL6  EPHB3  DBR1  GOLGA4  SLC6A20  TIMMDC1  PLXND1  TUSC2  MAATS1  UQCRC1  LMOD3  EFCC1  COPG  TRAT1  ARL8B  CLASP2  ARL6IP5  SLC6A6  UBE1DC1  RBP1  PODXL2  TM4SF1  RBM6  SERP1  MST1R  UBE1L  SLC7A14  SLC33A1  UBP1  ARF4  SERPINI1  CLDND1  MYH15  ZMYND10  STAG1  CENTB2  WWTR1  EAF1  P4HTM  SIDT1  MLF1  RAB6B  SEC22A  ACVR2B  EIF4A2  CLDN18  RNF7  PAQR9  ZBTB20  CSPG5  CEP63  PXK  TMEM22  TRANK1  CNBP  PCBP4  GNL3  PFN2  CEP97  TAGLN3  FXR1  RARRES1  WNT7A  EAF2  DCUN1D1  IFT57  MBNL1  EIF4E3  RIOX2  TFDP2  SLC41A3  ATG7  HESX1  FBLN2  CLDN11  OSTalpha  Fetuin-B  UPK1B  COX17  DVL3  TMEM44  EIF1B  SMARCAD1  NKX3-2  LSM6  INTS12  CSN1S1  FGFBP1  سينابتوبودين 2  TBC1D9  DKK2  CISD2  MEPE  CC2D2A  HNRPDL  UTP3  GUF1  ANTXR2  SDAD1  LDB2  PPP3CA  FAM198B  TLR10  DCHS2  DAPP1  PHOX2B  LCORL  FAT4  SPINK2  EMCN  HGFAC  TMPRSS11B  CLCN3  MRPL1  RAB33B  TBC1D1  PDS5A  STATH  ELF2  WDFY3  SHROOM3  FBXW7  FABP2  LYAR  TLL1  FAM47E-STBD1  TLR6  SEC31A  TMPRSS11F  MRFAP1  ING2  PCDH18  CYP4V2  KCNIP4  FBXL5  ANKRD17  أميلوبلاستين  SLC9B2  HOPX  MAB21L2  MFSD8  ZFYVE28  BBS7  SMARCA5  CEP135  AP1AR  SFRP2  RCHY1  HIP2  CXCL10  BBS12  PGRMC2  DCUN1D4  SPRY1  COPS4  ENAM  AFAP1  NKX6-1  CENTD1  LGI2  DUX4  SEPT11  MIR1269A  DMP1  NEIL3  CRMP1  MFSD7  Epiregulin  CENPC1  WDR1  ARFIP1  STAP1  H2AFZ  ATOH1  GPM6A  LETM1  CXCL13  MMAA  METTL14  YTHDC1  POU4F2  PCDH7  NCAPG  MLF1IP  CLDN22  MOBKL1A  THAP6  PSAPL1  PGDS  UBE1L2  Afamin  GRXCR1  EXOC1  TNIP2  Neurogenin-2  HSPA4L  LIMCH1  Calmegin  USO1  MXD4  LRIT3  HAUS3  RGS12  ZNF330  SMIM20  OTUD4  NUDT6  RBM47  KCTD8  HMGB2  HHIP  PABPC4L  UNC5C  APBB2  PCDH10  RASL11B  CSN2  LRBA  CCNG2  INPP4B  CYTL1  IRF2  GYPE  SPATA5  MSMO1  Nephronectin  NOA1  PLRG1  TACC3  WFS1  SLIT2  SEC24D  KIAA1530  SGCB  ADD1  S100P  FLT4  LEKTI  CLTB  WWC1  SPOCK1  NUDCD2  DCP2  PCDHB14  PROP1  TCF7  HMGXB3  FNIP1  KIF2A  MEGF10  MARVELD2  H2AFY  RUFY1  PCDHB3  YTHDC2  GFRA3  CENTD3  PCLKC  IRX2  TRIM23  IRX4  PCDHB4  PITX1  PCDHA3  FCHO2  GZMK  TLX3  AP3B1  SCGB3A2  SPRY4  UIMC1  BASP1  PCDHB5  IL31RA  RBM22  KIF20A  SFXN1  SEMA5A  JAKMIP2  FABP6  SFRS12  ZNF346  PDLIM7  SLC27A6  TRIP13  GZMA  FASTKD3  FOXI1  HNRNPA0  PCDH12  RAB3C  GPBP1  EXOC3  CPLX2  GM2A  PCDHB7  PFDN1  CDH9  ZNF300  ANKRD31  UBE2D2  FAM105B  PCDHA6  DIAPH1  PCDH1  MRPL22  CENPH  PCDHA4  DHX29  PCDHA2  UNC5A  REEP5  KCNIP1  ARL15  PWWP2A  WNT8A  LHFPL2  SLC6A18  TNFAIP8  FYB  CREBRF  LPCAT1  CDH12  PCDHB16  CXXC5  ANKH  BRD8  SAR1B  Beta-synuclein  NIPBL  HSD17B4  CCNG1  SLC25A24  WDR36  EDIL3  PCDHA9  POLR3G  PDZD2  IPO11  SIL1  NREP  EBF1  MZB1  CENPK  DCTN4  CDX1  TBCA  TRIM41  UTP15  SPINK1  SLU7  RASGRF2  GLRX  FBXO4  C5orf42  TTC1  SSBP2  PCDHB12  ATG10  SLC36A2  UBE2B  Neurogenin-1  SUB1  FBXL7  SNCAIP  SCGB3A1  FAM172A  SNX2  PDLIM4  PHAX  ZFYVE16  STK10  FAM114A2  PCDHA5  PCDHB11  RANBP3L  PCDHB2  MTMR12  SCAMP1  CLPTM1L  PAIP2  CDH6  EIF4E1B  SH3TC2  HINT1  MRPS30  HSPB3  SLIT3  DOK3  CD14  CRHBP  CDC23  SEMA6A  MOCS2  PPIP5K2  POU4F3  GTF2H2  SPEF2  ZBED3  TIMD4  FCHSD1  PPARGC1B  NDFIP1  HAPLN1  LMAN2  MAP1B  PCDHB15  CEP72  Delta-sarcoglycan  CDH10  RGS14  TINP1  FGF10  ADAMTS6  NSD1  ESM1  DNAH5  REEP2  NSUN2  ARHGAP26  RHOBTB3  KIF3A  LARP1  TGFBI  ABLIM3  MED10  ERAP2  TPPP  LYSMD3  STC2  RAI14  CNOT8  Calpastatin  UQCRQ  ATG12  PCDHB13  NOLA2  CEP120  CNOT6  BDP1  SNAG1  AGXT2  HNRPH1  SKIV2L2 
بوابة علم الأحياء الخلوي والجزيئي
بوابة طب
بوابة الكيمياء الحيوية
| 0 | 1 |
| --- | --- |
التصنيفات الطبية:  دليل الوراثة المندلية عند البشر (OMIM): 608206  
المعرفات الخارجية:  Ensembl Transcript ID: ENST00000674655  نظام اللغة الطبية الموحدة (UMLS CUI): C1539765