BFSP2
قراءة متعمقة

Merdes A، Gounari F، Georgatos SD (1994). "The 47-kD lens-specific protein phakinin is a tailless intermediate filament protein and an assembly partner of filensin". J. Cell Biol. ج. 123 ع. 6 Pt 1: 1507–16. DOI:10.1083/jcb.123.6.1507. PMC:2290875. PMID:7504675.
Hess JF، Casselman JT، FitzGerald PG (1995). "Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47". Curr. Eye Res. ج. 14 ع. 1: 11–8. DOI:10.3109/02713689508999909. PMID:7720401.
Hess JF، Casselman JT، FitzGerald PG (1996). "Gene structure and cDNA sequence identify the beaded filament protein CP49 as a highly divergent type I intermediate filament protein". J. Biol. Chem. ج. 271 ع. 12: 6729–35. DOI:10.1074/jbc.271.41.25089. PMID:8636093.{{استشهاد بدورية محكمة}}:  صيانة الاستشهاد: دوي مجاني غير معلم (link)
Bonaldo MF، Lennon G، Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. ج. 6 ع. 9: 791–806. DOI:10.1101/gr.6.9.791. PMID:8889548.
Hess JF، Casselman JT، Kong AP، FitzGerald PG (1998). "Primary sequence, secondary structure, gene structure, and assembly properties suggests that the lens-specific cytoskeletal protein filensin represents a novel class of intermediate filament protein". Exp. Eye Res. ج. 66 ع. 5: 625–44. DOI:10.1006/exer.1998.0478. PMID:9628810.
Conley YP، Erturk D، Keverline A، وآخرون (2000). "A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2". Am. J. Hum. Genet. ج. 66 ع. 4: 1426–31. DOI:10.1086/302871. PMC:1288209. PMID:10729115.
Jakobs PM، Hess JF، FitzGerald PG، وآخرون (2000). "Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2". Am. J. Hum. Genet. ج. 66 ع. 4: 1432–6. DOI:10.1086/302872. PMC:1288210. PMID:10739768.
Carter JM، McLean WH، West S، Quinlan RA (2000). "Mapping of the human CP49 gene and identification of an intragenic polymorphic marker to allow genetic linkage analysis in autosomal dominant congenital cataract". Biochem. Biophys. Res. Commun. ج. 270 ع. 2: 432–6. DOI:10.1006/bbrc.2000.2442. PMID:10753642.
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.
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.
Zhang Q، Guo X، Xiao X، وآخرون (2005). "Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family". Mol. Vis. ج. 10: 890–900. PMID:15570218.
Zhang L، Gao L، Li Z، وآخرون (2007). "Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family". Mol. Vis. ج. 12: 1626–31. PMID:17200662.
Cui X، Gao L، Jin Y، وآخرون (2007). "The E233del mutation in BFSP2 causes a progressive autosomal dominant congenital cataract in a Chinese family". Mol. Vis. ج. 13: 2023–9. PMID:17982427.
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معرفات كيميائية:  قاعدة بيانات التتابع المرجعي (RefSeq RNA): XM_017007315  
| ع ن جينات الكروموسوم 3 | ع ن جينات الكروموسوم 3 |
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جينات الكروموسوم 3:  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 
بوابة علم الأحياء الخلوي والجزيئي
بوابة طب
بوابة الكيمياء الحيوية
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التصنيفات الطبية:  دليل الوراثة المندلية عند البشر (OMIM): 603212  
المعرفات الخارجية:  Ensembl Transcript ID: ENST00000511434  نظام اللغة الطبية الموحدة (UMLS CUI): C1412790