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Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.

RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000142 Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $899.00 20

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RefSeq Version NM_000142.4, 254028235
Length 4304 bp
Structure linear
Update Date 21-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.
Product fibroblast growth factor receptor 3 isoform 1 precursor

Summary: This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. Three alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Jul 2009].

Transcript Variant: This variant (1) is the predominant transcript. The resulting protein (isoform 1) has the IIIc-type C-terminal half of the IgIII domain.

Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

RefSeq NP_000133.1
CDS 257..2677
Misc Feature(1)413..586
Misc Feature(2)737..991
Misc Feature(3)order(743..745,749..751,755..757)
Misc Feature(4)order(746..748,767..775,779..781)
Misc Feature(5)767..991
Misc Feature(6)1058..1315
Misc Feature(7)order(1085..1087,1100..1108,1193..1198,1208..1210,
Misc Feature(8)1382..1444
Misc Feature(9)1631..2632
Misc Feature(10)1670..2500
Misc Feature(11)order(1682..1684,1688..1702,1712..1714,1772..1774,
Misc Feature(12)order(1682..1684,1688..1699,1703..1705,1712..1714,
Misc Feature(13)1985..1987
Misc Feature(14)order(2105..2107,2117..2119,2213..2227,2252..2254,
Misc Feature(15)2156..2233
Misc Feature(16)2195..2197
Misc Feature(17)2195..2197
Misc Feature(18)2198..2200
Misc Feature(19)2198..2200
Misc Feature(20)2426..2428
Misc Feature(21)2426..2428
Misc Feature(22)2534..2536
Misc Feature(23)2534..2536
Misc Feature(24)2564..2566
Exon (1)1..154
Gene Synonym:ACH; CD333; CEK2; HSFGFR3EX; JTK4
Exon (2)155..365
Gene Synonym:ACH; CD333; CEK2; HSFGFR3EX; JTK4
Exon (3)366..635
Gene Synonym:ACH; CD333; CEK2; HSFGFR3EX; JTK4
Exon (4)636..701
Gene Synonym:ACH; CD333; CEK2; HSFGFR3EX; JTK4
Exon (5)702..871
Gene Synonym:ACH; CD333; CEK2; HSFGFR3EX; JTK4
Exon (6)872..995
Gene Synonym:ACH; CD333; CEK2; HSFGFR3EX; JTK4
Exon (7)996..1186
Gene Synonym:ACH; CD333; CEK2; HSFGFR3EX; JTK4
Exon (8)1187..1331
Gene Synonym:ACH; CD333; CEK2; HSFGFR3EX; JTK4
Exon (9)1332..1522
Gene Synonym:ACH; CD333; CEK2; HSFGFR3EX; JTK4
Exon (10)1523..1668
Gene Synonym:ACH; CD333; CEK2; HSFGFR3EX; JTK4
Exon (11)1669..1790
Gene Synonym:ACH; CD333; CEK2; HSFGFR3EX; JTK4
Exon (12)1791..1901
Gene Synonym:ACH; CD333; CEK2; HSFGFR3EX; JTK4
Exon (13)1902..2092
Gene Synonym:ACH; CD333; CEK2; HSFGFR3EX; JTK4
Exon (14)2093..2215
Gene Synonym:ACH; CD333; CEK2; HSFGFR3EX; JTK4
Exon (15)2216..2286
Gene Synonym:ACH; CD333; CEK2; HSFGFR3EX; JTK4
Exon (16)2287..2424
Gene Synonym:ACH; CD333; CEK2; HSFGFR3EX; JTK4
Exon (17)2425..2530
Gene Synonym:ACH; CD333; CEK2; HSFGFR3EX; JTK4
Exon (18)2531..4287
Gene Synonym:ACH; CD333; CEK2; HSFGFR3EX; JTK4
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Position Chain Variation Link
38+c, gdbSNP:17880408
222..223+, cdbSNP:35593071
386+a, gdbSNP:146080119
410+a, gdbSNP:140087676
414+c, gdbSNP:201433984
415+c, tdbSNP:143548893
425+a, gdbSNP:61735064
445+a, gdbSNP:140377760
449+a, gdbSNP:2305178
507+c, tdbSNP:121913116
528+c, tdbSNP:144995231
533+c, tdbSNP:199968400
558+g, tdbSNP:80029045
604+c, tdbSNP:2305179
626+c, tdbSNP:199740841
638+a, gdbSNP:200300532
645+c, tdbSNP:113172184
649+a, gdbSNP:55662109
658+c, tdbSNP:199792768
673+c, tdbSNP:3135867
757+a, gdbSNP:111455601
844+c, tdbSNP:2305180
859+c, tdbSNP:2305181
895+a, gdbSNP:138707520
910+c, gdbSNP:147769045
916+a, cdbSNP:146927248
919+a, gdbSNP:114421370
922+c, tdbSNP:201081464
934+c, tdbSNP:141575580
963+a, gdbSNP:200495316
969+a, gdbSNP:199944818
981+c, tdbSNP:150916178
998+c, tdbSNP:121913482
1002+c, gdbSNP:121913483
1005+c, gdbSNP:4647924
1027+a, gdbSNP:138334098
1049+a, gdbSNP:151254213
1063+c, tdbSNP:199614237
1066+c, tdbSNP:142910057
1089+a, gdbSNP:121913115
1091+a, tdbSNP:121913114
1120+c, tdbSNP:146127079
1138+c, tdbSNP:2234909
1156+a, gdbSNP:143723106
1168+c, gdbSNP:201012537
1171+c, tdbSNP:144675978
1177+c, tdbSNP:148518372
1189+a, gdbSNP:142805104
1192+a, gdbSNP:199856426
1195+c, tdbSNP:201679424
1219+a, gdbSNP:201221388
1220+a, gdbSNP:121913111
1241+a, gdbSNP:188723332
1246+c, tdbSNP:2305185
1270+c, tdbSNP:4647928
1274+c, tdbSNP:144374083
1279+a, gdbSNP:147833498
1286..1287+, adbSNP:34723753
1287+c, tdbSNP:199702395
1324+a, gdbSNP:201947443
1325+c, tdbSNP:141207920
1358+a, gdbSNP:201136923
1362+c, tdbSNP:146970233
1364+g, tdbSNP:121913479
1367+a, tdbSNP:121913484
1374+a, gdbSNP:121913485
1379+a, cdbSNP:75790268
1386+g, tdbSNP:267606809
1393+c, tdbSNP:137896792
1394+a, c, gdbSNP:28931614
1397+a, gdbSNP:149023204
1404+g, tdbSNP:11943863
1406+c, tdbSNP:17881656
1409+c, tdbSNP:200186825
1428+a, cdbSNP:28931615
1429+a, gdbSNP:148157107
1465+a, gdbSNP:151306939
1470+a, gdbSNP:201813356
1472+c, gdbSNP:201751659
1474+c, gdbSNP:187314275
1495+a, gdbSNP:140898926
1498+c, tdbSNP:143094785
1502+c, tdbSNP:146114742
1539+a, gdbSNP:138986264
1541+a, gdbSNP:182935140
1543+a, gdbSNP:187229103
1546+c, tdbSNP:3135891
1561+a, gdbSNP:3135892
1563+c, tdbSNP:142030909
1576+c, tdbSNP:190111780
1577+a, gdbSNP:17884368
1592+, gdbSNP:35317612
1601+c, tdbSNP:61735104
1605+c, tdbSNP:56240927
1610+c, tdbSNP:3135893
1612+a, cdbSNP:149555011
1619+g, tdbSNP:144242294
1627+c, tdbSNP:199758988
1696+g, tdbSNP:200780581
1710+a, gdbSNP:267606808
1753+c, tdbSNP:140594137
1769+a, gdbSNP:144546453
1774+c, tdbSNP:147823561
1793+a, gdbSNP:121913112
1806+a, gdbSNP:139707740
1807+a, gdbSNP:142622642
1828+c, tdbSNP:150945966
1868+c, tdbSNP:80053154
1875+c, g, tdbSNP:77722678
1876+a, c, gdbSNP:28933068
1885+c, gdbSNP:61735103
1903+g, tdbSNP:3135897
1912+c, tdbSNP:150083071
1913+a, gdbSNP:199544087
1945+a, gdbSNP:199779110
1962+c, tdbSNP:146672976
1981+a, gdbSNP:141422828
1993+c, tdbSNP:200589145
2007+c, tdbSNP:145183329
2008+a, gdbSNP:139020690
2082+c, tdbSNP:142093553
2118+a, gdbSNP:121913113
2135+a, gdbSNP:200849753
2143+c, tdbSNP:104886004
2155+c, tdbSNP:143775650
2164+c, gdbSNP:104886005
2179+c, tdbSNP:148104605
2191+c, tdbSNP:104886006
2204+a, c, gdbSNP:78311289
2205+a, tdbSNP:121913105
2206+c, g, tdbSNP:28928868
2209+a, gdbSNP:7688609
2215+c, tdbSNP:150609697
2281+c, tdbSNP:200980490
2299+a, gdbSNP:17883356
2323+a, gdbSNP:200872971
2344+c, tdbSNP:142884145
2345+g, tdbSNP:121913480
2385+g, tdbSNP:104886023
2391+a, gdbSNP:104886024
2405+a, gdbSNP:17882190
2409+a, gdbSNP:139773438
2432+a, tdbSNP:17880763
2439+a, gdbSNP:149924317
2456+a, gdbSNP:188849608
2461+c, gdbSNP:145020302
2463+a, cdbSNP:148631462
2470+a, gdbSNP:200624062
2497+c, tdbSNP:142137666
2515+c, tdbSNP:146662137
2528+a, gdbSNP:56266857
2550+c, tdbSNP:140211846
2567+g, tdbSNP:145245079
2568+c, tdbSNP:146869627
2572+a, gdbSNP:200629304
2587+c, tdbSNP:189264142
2595+c, gdbSNP:140616343
2626+c, gdbSNP:138078624
2637+ga, tdbSNP:121913481
2652+c, tdbSNP:150452037
2675+a, g, tdbSNP:121913101
2677+a, tdbSNP:121913103
2682+c, gdbSNP:17879364
2691+c, tdbSNP:149119664
2700+a, gdbSNP:143130353
2709+c, gdbSNP:148257939
2713+a, gdbSNP:3135900
2730+c, tdbSNP:147471896
2741+a, cdbSNP:138412839
2753+a, gdbSNP:143797885
2781+a, cdbSNP:150623219
2792..2793+, tdbSNP:35582695
2793+c, tdbSNP:139961981
2809+c, tdbSNP:149863736
2811+c, tdbSNP:78260022
2815+c, tdbSNP:73202816
2816..2817+, gtdbSNP:34562534
2817..2818+, tgdbSNP:34003391
2842+a, gdbSNP:112613951
2861+c, tdbSNP:3135901
2875+a, gdbSNP:139656072
2879+a, gdbSNP:3135902
2881+, agdbSNP:17884364
2888+c, gdbSNP:146843671
2890+c, gdbSNP:17884965
2916+c, gdbSNP:146686766
2943+, gdbSNP:36110512
2947+c, tdbSNP:140307141
2961+a, gdbSNP:142499367
2964+c, tdbSNP:17882030
2997+a, gdbSNP:150943855
2998+c, gdbSNP:140878423
3018+a, cdbSNP:150156689
3022+c, gdbSNP:138933598
3037+a, gdbSNP:17881782
3039+c, tdbSNP:141307773
3045+c, tdbSNP:146988530
3058+a, gdbSNP:138377208
3061+c, tdbSNP:149595424
3075+c, tdbSNP:144231750
3079..3080+, gdbSNP:34288608
3083+c, tdbSNP:148309209
3093+c, tdbSNP:141419414
3094+c, gdbSNP:200015882
3098+g, tdbSNP:150892094
3104+c, tdbSNP:139770971
3112+a, gdbSNP:142940849
3115+a, gdbSNP:146131833
3139+, cdbSNP:34583865
3144+g, tdbSNP:139197142
3175+a, gdbSNP:17880626
3197+c, tdbSNP:144268232
3199+c, gdbSNP:3135903
3215+a, tdbSNP:149915836
3244+c, tdbSNP:17878568
3299+a, gdbSNP:184903110
3337..3338+, a, atdbSNP:17878315
3353+c, tdbSNP:144953313
3375+, cdbSNP:35222799
3377..3378+, c, tdbSNP:34750071
3408+c, gdbSNP:148600108
3419+a, gdbSNP:113572688
3475+c, tdbSNP:3135904
3540+c, tdbSNP:189748716
3591+a, gdbSNP:180944260
3595+c, tdbSNP:185946582
3608..3609+, tdbSNP:139431979
3639+c, tdbSNP:199807707
3718+c, tdbSNP:191993060
3791+a, gdbSNP:17883581
3962+, tatadbSNP:17882393
4038+c, tdbSNP:2121456
4085+g, tdbSNP:76953537
4086+g, tdbSNP:78424000
4087+c, gdbSNP:74995745
4097+a, gdbSNP:181727722
4156+c, tdbSNP:4647929
Gene SymbolFGFR3
Gene SynonymACH; CD333; CEK2; HSFGFR3EX; JTK4
Locus Map4p16.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000142 Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA. On-demand $899.00 20
NM_001163213 Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 3, mRNA. On-demand $899.00 20
NM_022965 Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 2, mRNA. On-demand $849.00 20
Title Amplification of FRS2 and activation of FGFR/FRS2 signaling pathway in high-grade liposarcoma .
Author Zhang,K., Chu,K., Wu,X., Gao,H., Wang,J., Yuan,Y.C., Loera,S., Ho,K., Wang,Y., Chow,W., Un,F., Chu,P. and Yen,Y.
Journal Cancer Res. 73 (4), 1298-1307 (2013)
Title FGFR3 stimulates stearoyl CoA desaturase 1 activity to promote bladder tumor growth .
Author Du,X., Wang,Q.R., Chan,E., Merchant,M., Liu,J., French,D., Ashkenazi,A. and Qing,J.
Journal Cancer Res. 72 (22), 5843-5855 (2012)
Title Association of FGFR3 and MDM2 gene nucleotide polymorphisms with bone tumors .
Author Naumov,V.A., Generozov,E.V., Solovyov,Y.N., Aliev,M.D. and Kushlinsky,N.E.
Journal Bull. Exp. Biol. Med. 153 (6), 869-873 (2012)
Title New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia .
Author Song,S.H., Balce,G.C., Agashe,M.V., Lee,H., Hong,S.J., Park,Y.E., Kim,S.G. and Song,H.R.
Journal Am. J. Med. Genet. A 158A (10), 2456-2462 (2012)
Title Transforming fusions of FGFR and TACC genes in human glioblastoma .
Author Singh,D., Chan,J.M., Zoppoli,P., Niola,F., Sullivan,R., Castano,A., Liu,E.M., Reichel,J., Porrati,P., Pellegatta,S., Qiu,K., Gao,Z., Ceccarelli,M., Riccardi,R., Brat,D.J., Guha,A., Aldape,K., Golfinos,J.G., Zagzag,D., Mikkelsen,T., Finocchiaro,G., Lasorella,A., Rabadan,R. and Iavarone,A.
Journal Science 337 (6099), 1231-1235 (2012)
Title Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans .
Author Meyers,G.A., Orlow,S.J., Munro,I.R., Przylepa,K.A. and Jabs,E.W.
Journal Nat. Genet. 11 (4), 462-464 (1995)
Title The choice between alternative IIIb and IIIc exons of the FGFR-3 gene is not strictly tissue-specific .
Author Scotet,E. and Houssaint,E.
Journal Biochim. Biophys. Acta 1264 (2), 238-242 (1995)
Title A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4 .
Author Thompson,L.M., Plummer,S., Schalling,M., Altherr,M.R., Gusella,J.F., Housman,D.E. and Wasmuth,J.J.
Journal Genomics 11 (4), 1133-1142 (1991)
Title Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3 .
Author Keegan,K., Johnson,D.E., Williams,L.T. and Hayman,M.J.
Journal Proc. Natl. Acad. Sci. U.S.A. 88 (4), 1095-1099 (1991)
Title Putative tyrosine kinases expressed in K-562 human leukemia cells .
Author Partanen,J., Makela,T.P., Alitalo,R., Lehvaslaiho,H. and Alitalo,K.
Journal Proc. Natl. Acad. Sci. U.S.A. 87 (22), 8913-8917 (1990)

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