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Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.


RefSeq Accession Definition Services Price Order
NM_002011 Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA. ORF Sequence $698.61
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_002011.3, 47524172
Length 3040 bp
Structure linear
Update Date 21-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.
Product fibroblast growth factor receptor 4 isoform 1 precursor
Comment

Summary: The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. 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. The genomic organization of this gene, compared to members 1-3, encompasses 18 exons rather than 19 or 20. Although alternative splicing has been observed, there is no evidence that the C-terminal half of the IgIII domain of this protein varies between three alternate forms, as indicated for members 1-3. This particular family member preferentially binds acidic fibroblast growth factor and, although its specific function is unknown, it is overexpressed in gynecological tumor samples, suggesting a role in breast and ovarian tumorigenesis. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (1) utilizes alternatively spliced exon 9, generating isoform (1) that contains a transmembrane domain, suggesting a membrane bound receptor.

RefSeq NP_002002.3
CDS 168..2576
Misc Feature(1)315..488
Misc Feature(2)615..863
Misc Feature(3)636..890
Misc Feature(4)933..1217
Misc Feature(5)957..1220
Misc Feature(6)order(984..986,999..1007,1092..1097,1113..1115,1176..1178)
Misc Feature(7)1275..1337
Misc Feature(8)1527..2459
Misc Feature(9)1566..2396
Misc Feature(10)order(1578..1580,1584..1598,1608..1610,1668..1670,
Misc Feature(11)order(1578..1580,1584..1595,1599..1601,1608..1610,
Misc Feature(12)1884..1886
Misc Feature(13)order(2001..2003,2013..2015,2109..2123,2148..2150,
Misc Feature(14)2052..2129
Misc Feature(15)2091..2093
Misc Feature(16)2094..2096
Misc Feature(17)2427..2429
Misc Feature(18)2427..2429
Exon (1)1..114
Gene:FGFR4
Gene Synonym:CD334; JTK2; TKF
Exon (2)115..258
Gene:FGFR4
Gene Synonym:CD334; JTK2; TKF
Exon (3)259..522
Gene:FGFR4
Gene Synonym:CD334; JTK2; TKF
Exon (4)523..603
Gene:FGFR4
Gene Synonym:CD334; JTK2; TKF
Exon (5)604..770
Gene:FGFR4
Gene Synonym:CD334; JTK2; TKF
Exon (6)771..894
Gene:FGFR4
Gene Synonym:CD334; JTK2; TKF
Exon (7)895..1085
Gene:FGFR4
Gene Synonym:CD334; JTK2; TKF
Exon (8)1086..1224
Gene:FGFR4
Gene Synonym:CD334; JTK2; TKF
Exon (9)1225..1418
Gene:FGFR4
Gene Synonym:CD334; JTK2; TKF
Exon (10)1419..1564
Gene:FGFR4
Gene Synonym:CD334; JTK2; TKF
Exon (11)1565..1686
Gene:FGFR4
Gene Synonym:CD334; JTK2; TKF
Exon (12)1687..1797
Gene:FGFR4
Gene Synonym:CD334; JTK2; TKF
Exon (13)1798..1988
Gene:FGFR4
Gene Synonym:CD334; JTK2; TKF
Exon (14)1989..2111
Gene:FGFR4
Gene Synonym:CD334; JTK2; TKF
Exon (15)2112..2182
Gene:FGFR4
Gene Synonym:CD334; JTK2; TKF
Exon (16)2183..2320
Gene:FGFR4
Gene Synonym:CD334; JTK2; TKF
Exon (17)2321..2426
Gene:FGFR4
Gene Synonym:CD334; JTK2; TKF
Exon (18)2427..3026
Gene:FGFR4
Gene Synonym:CD334; JTK2; TKF
Translation MRLLLALLGVLLSVPGPPVLSLEASEEVELEPCLAPSLEQQEQELTVALGQPVRLCCGRA ERGGHWYKEGSRLAPAGRVRGWRGRLEIASFLPEDAGRYLCLARGSMIVLQNLTLITGDS LTSSNDDEDPKSHRDPSNRHSYPQQAPYWTHPQRMEKKLHAVPAGNTVKFRCPAAGNPTP TIRWLKDGQAFHGENRIGGIRLRHQHWSLVMESVVPSDRGTYTCLVENAVGSIRYNYLLD VLERSPHRPILQAGLPANTTAVVGSDVELLCKVYSDAQPHIQWLKHIVINGSSFGADGFP YVQVLKTADINSSEVEVLYLRNVSAEDAGEYTCLAGNSIGLSYQSAWLTVLPEEDPTWTA AAPEARYTDIILYASGSLALAVLLLLAGLYRGQALHGRHPRPPATVQKLSRFPLARQFSL ESGSSGKSSSSLVRGVRLSSSGPALLAGLVSLDLPLDPLWEFPRDRLVLGKPLGEGCFGQ VVRAEAFGMDPARPDQASTVAVKMLKDNASDKDLADLVSEMEVMKLIGRHKNIINLLGVC TQEGPLYVIVECAAKGNLREFLRARRPPGPDLSPDGPRSSEGPLSFPVLVSCAYQVARGM QYLESRKCIHRDLAARNVLVTEDNVMKIADFGLARGVHHIDYYKKTSNGRLPVKWMAPEA LFDRVYTHQSDVWSFGILLWEIFTLGGSPYPGIPVEELFSLLREGHRMDRPPHCPPELYG LMRECWHAAPSQRPTFKQLVEALDKVLLAVSEEYLDLRLTFGPYSPSGGDASSTCSSSDS VFSHDPLPLGSSSFPFGSGVQT
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Position Chain Variation Link
172+a, gdbSNP:141355998
195+a, gdbSNP:1966265
210..211+, gdbSNP:34857283
217+c, tdbSNP:200148492
300+dbSNP:
300+c, tdbSNP:138373273
310+c, tdbSNP:201142834
329..333+, tctgtdbSNP:200071427
329+a, cdbSNP:446382
334+c, gdbSNP:150191035
342+c, tdbSNP:200344385
348+a, gdbSNP:138727638
390+c, tdbSNP:202216794
400+a, gdbSNP:200146267
421+a, gdbSNP:149419025
498+c, tdbSNP:201049126
517+c, tdbSNP:144853017
542+dbSNP:
542+c, tdbSNP:184093905
546+c, gdbSNP:142240686
554..555+, cdbSNP:66780788
574+a, gdbSNP:376618
577+c, tdbSNP:199792541
578+a, gdbSNP:55701137
597+a, cdbSNP:74633199
628+dbSNP:
628+g, tdbSNP:201257476
656+c, tdbSNP:45526036
659+a, gdbSNP:139194967
665+c, tdbSNP:142584511
669+a, gdbSNP:150920445
678+c, tdbSNP:139464025
702+a, gdbSNP:55675160
703+c, tdbSNP:111435837
715+a, gdbSNP:149737957
737+c, tdbSNP:11549940
743+c, tdbSNP:200864630
765+a, gdbSNP:146400837
769+a, gdbSNP:147846257
798+dbSNP:
798+a, tdbSNP:141468552
812+a, gdbSNP:146983133
823+a, gdbSNP:200232395
851+c, tdbSNP:3135923
868+a, gdbSNP:199935139
869+c, tdbSNP:452885
935+dbSNP:
935+a, gdbSNP:199699604
950+c, tdbSNP:45460599
951+a, gdbSNP:148292303
962+c, tdbSNP:141424576
966+a, gdbSNP:201913502
977+g, tdbSNP:150411031
992+c, gdbSNP:11954456
1037+c, tdbSNP:201123210
1057+a, tdbSNP:1057633
1058+c, tdbSNP:138464768
1082..1083+, adbSNP:66931706
1087+dbSNP:
1087+c, tdbSNP:200525902
1092..1093+, tdbSNP:200827322
1129+a, gdbSNP:202234648
1133+c, tdbSNP:199582955
1143+a, gdbSNP:143108014
1149+a, gdbSNP:150737523
1169+c, tdbSNP:55658990
1214+a, gdbSNP:149471437
1223+a, tdbSNP:56013522
1271+dbSNP:
1271+a, gdbSNP:143963361
1286+c, tdbSNP:148602732
1292+a, gdbSNP:142049814
1320+c, tdbSNP:200530821
1328+c, tdbSNP:147364783
1329+c, tdbSNP:351855
1352+c, gdbSNP:145302848
1373+a, gdbSNP:147603016
1414+a, gdbSNP:200070761
1421+dbSNP:
1421+c, tdbSNP:11549939
1442+c, tdbSNP:201812753
1443+a, gdbSNP:55879131
1454+a, cdbSNP:75935301
1455+c, tdbSNP:149790098
1467+c, gdbSNP:145751771
1477+a, gdbSNP:61737768
1508+c, tdbSNP:200881232
1509+a, gdbSNP:145635664
1515+a, gdbSNP:138256705
1535+c, tdbSNP:201925633
1554+c, tdbSNP:200079763
1589+dbSNP:
1589+c, tdbSNP:144494258
1615+a, gdbSNP:141384037
1644+c, tdbSNP:145163805
1670+c, tdbSNP:138938442
1671+a, gdbSNP:141530067
1691+dbSNP:
1691+c, tdbSNP:150885537
1713+a, gdbSNP:34158682
1736+c, gdbSNP:201168946
1753+a, gdbSNP:34284947
1781+c, tdbSNP:138449854
1800+dbSNP:
1800+c, gdbSNP:149282277
1809+a, gdbSNP:199694646
1824+a, gdbSNP:201831200
1826+a, gdbSNP:351854
1855+a, gdbSNP:139461102
1861+a, gdbSNP:200766146
1915+c, tdbSNP:138800021
1939+c, tdbSNP:34138361
1955+, gdbSNP:66948953
1969+a, gdbSNP:147223705
2004+dbSNP:
2004+c, tdbSNP:148700600
2014+g, tdbSNP:2301344
2075+c, tdbSNP:201505563
2141+dbSNP:
2141+c, tdbSNP:142153253
2146..2147+, cdbSNP:72119508
2223+dbSNP:
2223+, gdbSNP:67419797
2265+c, tdbSNP:199817274
2285+c, tdbSNP:151207425
2296+a, gdbSNP:140492176
2300+a, cdbSNP:144302636
2309+c, tdbSNP:201521249
2314+a, cdbSNP:146533162
2321+dbSNP:
2321+a, gdbSNP:200192467
2326+g, tdbSNP:141240325
2334+c, tdbSNP:201490532
2335+a, gdbSNP:145143718
2384+a, gdbSNP:138935913
2414+c, tdbSNP:149019238
2415+a, gdbSNP:143758924
2433+dbSNP:
2433+a, gdbSNP:192201146
2439+c, tdbSNP:148143006
2450+c, tdbSNP:201160810
2472+a, gdbSNP:116536953
2489+c, gdbSNP:200562501
2501+c, gdbSNP:188755817
2519+c, tdbSNP:199622668
2526+a, cdbSNP:147384774
2531+a, gdbSNP:137873435
2553+c, tdbSNP:201205907
2556+c, gdbSNP:200649056
2602+a, tdbSNP:873652
2605+g, tdbSNP:45516497
2705+a, gdbSNP:140481305
2786+a, tdbSNP:1057754
2787+a, tdbSNP:1057755
2928+c, gdbSNP:9489
2937+c, tdbSNP:180712076
2943+a, cdbSNP:1803583
2970+c, tdbSNP:1076890
2998+c, tdbSNP:186010393
Gene SymbolFGFR4
Gene SynonymCD334; JTK2; TKF
Chromosome5
Locus Map5q35.1-qter
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_002011 Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA. Full Length $1064.00
ORF Sequence $698.61
NM_022963 Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 2, mRNA. Full Length $814.03
ORF Sequence $663.81
NM_213647 Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 3, mRNA. Full Length $1079.40
ORF Sequence $698.61
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 The FGFR4-G388R single-nucleotide polymorphism alters pancreatic neuroendocrine tumor progression and response to mTOR inhibition therapy .
Author Serra,S., Zheng,L., Hassan,M., Phan,A.T., Woodhouse,L.J., Yao,J.C., Ezzat,S. and Asa,S.L.
Journal Cancer Res. 72 (22), 5683-5691 (2012)
Title Differential effects of polymorphic alleles of FGF receptor 4 on colon cancer growth and metastasis .
Author Heinzle,C., Gsur,A., Hunjadi,M., Erdem,Z., Gauglhofer,C., Stattner,S., Karner,J., Klimpfinger,M., Wrba,F., Reti,A., Hegedus,B., Baierl,A., Grasl-Kraupp,B., Holzmann,K., Grusch,M., Berger,W. and Marian,B.
Journal Cancer Res. 72 (22), 5767-5777 (2012)
Title Fibroblast growth factor receptor 4 polymorphisms and coronary artery disease: a case control study .
Author Zhu,Q. and Liu,T.
Journal Mol. Biol. Rep. 39 (9), 8679-8685 (2012)
Title Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease .
Author Tang,W., Schwienbacher,C., Lopez,L.M., Ben-Shlomo,Y., Oudot-Mellakh,T., Johnson,A.D., Samani,N.J., Basu,S., Gogele,M., Davies,G., Lowe,G.D., Tregouet,D.A., Tan,A., Pankow,J.S., Tenesa,A., Levy,D., Volpato,C.B., Rumley,A., Gow,A.J., Minelli,C., Yarnell,J.W., Porteous,D.J., Starr,J.M., Gallacher,J., Boerwinkle,E., Visscher,P.M., Pramstaller,P.P., Cushman,M., Emilsson,V., Plump,A.S., Matijevic,N., Morange,P.E., Deary,I.J., Hicks,A.A. and Folsom,A.R.
Journal Am. J. Hum. Genet. 91 (1), 152-162 (2012)
Title Fibroblast growth factor receptor-4 shows novel features in genomic structure, ligand binding and signal transduction .
Author Vainikka,S., Partanen,J., Bellosta,P., Coulier,F., Birnbaum,D., Basilico,C., Jaye,M. and Alitalo,K.
Journal EMBO J. 11 (12), 4273-4280 (1992)
Title A radiation hybrid map of 18 growth factor, growth factor receptor, hormone receptor, or neurotransmitter receptor genes on the distal region of the long arm of chromosome 5 .
Author Warrington,J.A., Bailey,S.K., Armstrong,E., Aprelikova,O., Alitalo,K., Dolganov,G.M., Wilcox,A.S., Sikela,J.M., Wolfe,S.F., Lovett,M. et al.
Journal Genomics 13 (3), 803-808 (1992)
Title Localization of the fibroblast growth factor receptor-4 gene to chromosome region 5q33-qter .
Author Armstrong,E., Partanen,J., Cannizzaro,L., Huebner,K. and Alitalo,K.
Journal Genes Chromosomes Cancer 4 (1), 94-98 (1992)
Title Two additional protein-tyrosine kinases expressed in human lung: fourth member of the fibroblast growth factor receptor family and an intracellular protein-tyrosine kinase .
Author Holtrich,U., Brauninger,A., Strebhardt,K. and Rubsamen-Waigmann,H.
Journal Proc. Natl. Acad. Sci. U.S.A. 88 (23), 10411-10415 (1991)
Title FGFR-4, a novel acidic fibroblast growth factor receptor with a distinct expression pattern .
Author Partanen,J., Makela,T.P., Eerola,E., Korhonen,J., Hirvonen,H., Claesson-Welsh,L. and Alitalo,K.
Journal EMBO J. 10 (6), 1347-1354 (1991)

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