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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 2, mRNA.


RefSeq Accession Definition Services Price Order
NM_022970 Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 2, mRNA. ORF Sequence $716.01
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_022970.3, 189083816
Length 4657 bp
Structure linear
Update Date 21-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 2, mRNA.
Product fibroblast growth factor receptor 2 isoform 2 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 consists 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 is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009].


Transcript Variant: This variant (2) uses an alternate internal in-frame coding exon compared to transcript variant 1, resulting in an isoform (2, also known as isoform K-sam-IIH1, IIIb, and BFR-1) with a different, 1 aa longer protein segment in the mid-region compared to isoform 1.


Sequence Note: A downstream AUG translation start codon is selected for this RefSeq based on the presence of a strong Kozak consensus signal, a strong community standard for the use of the downstream start codon, and on a higher probability of an N-terminal signal peptide being present in the resulting protein. The use of an alternative in-frame upstream AUG start codon would result in a protein that is 19 aa longer at the N-terminus. Translation from the annotated downstream start codon is likely to occur via leaky scanning and/or reinitiation.


CCDS Note: A downstream AUG translation start codon is selected for this CCDS representation based on a strong community standard for its use, and on a higher probability of a signal peptide being present in the protein N-terminus. The use of an alternative upstream AUG start codon would result in a protein that is 19 aa longer at the N-terminus. The upstream AUG has a weak Kozak signal while the downstream AUG has a strong Kozak signal. Due to leaky scanning by ribosomes, it is possible that some ribosomes may initiate translation from the downstream AUG codon while others start from the upstream AUG. The presence of multiple upstream ORFs suggests that a combination of leaky scanning and translational reinitiation may be necessary to achieve translation of the annotated ORF.

RefSeq NP_075259.4
CDS 648..3116
Misc Feature(1)531..533
Misc Feature(2)531..533
Misc Feature(3)591..593
Misc Feature(4)786..1019
Misc Feature(5)1137..1391
Misc Feature(6)order(1143..1145,1149..1151,1155..1157)
Misc Feature(7)order(1146..1148,1167..1175,1179..1181)
Misc Feature(8)1434..1718
Misc Feature(9)1434..1718
Misc Feature(10)2043..2954
Misc Feature(11)2091..2921
Misc Feature(12)order(2103..2105,2109..2111,2115..2123,2133..2135,
Misc Feature(13)order(2103..2105,2109..2111,2115..2120,2133..2135,
Misc Feature(14)order(2526..2528,2538..2540,2634..2648,2673..2675,
Misc Feature(15)2577..2654
Exon (1)1..497
Gene:FGFR2
Gene Synonym:BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1; JWS; K-SAM; KGFR; TK14; TK25
Exon (2)498..756
Gene:FGFR2
Gene Synonym:BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1; JWS; K-SAM; KGFR; TK14; TK25
Exon (3)757..1023
Gene:FGFR2
Gene Synonym:BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1; JWS; K-SAM; KGFR; TK14; TK25
Exon (4)1024..1101
Gene:FGFR2
Gene Synonym:BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1; JWS; K-SAM; KGFR; TK14; TK25
Exon (5)1102..1271
Gene:FGFR2
Gene Synonym:BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1; JWS; K-SAM; KGFR; TK14; TK25
Exon (6)1272..1395
Gene:FGFR2
Gene Synonym:BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1; JWS; K-SAM; KGFR; TK14; TK25
Exon (7)1396..1586
Gene:FGFR2
Gene Synonym:BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1; JWS; K-SAM; KGFR; TK14; TK25
Exon (8)1587..1734
Gene:FGFR2
Gene Synonym:BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1; JWS; K-SAM; KGFR; TK14; TK25
Exon (9)1735..1937
Gene:FGFR2
Gene Synonym:BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1; JWS; K-SAM; KGFR; TK14; TK25
Exon (10)1938..2089
Gene:FGFR2
Gene Synonym:BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1; JWS; K-SAM; KGFR; TK14; TK25
Exon (11)2090..2211
Gene:FGFR2
Gene Synonym:BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1; JWS; K-SAM; KGFR; TK14; TK25
Exon (12)2212..2322
Gene:FGFR2
Gene Synonym:BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1; JWS; K-SAM; KGFR; TK14; TK25
Exon (13)2323..2513
Gene:FGFR2
Gene Synonym:BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1; JWS; K-SAM; KGFR; TK14; TK25
Exon (14)2514..2636
Gene:FGFR2
Gene Synonym:BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1; JWS; K-SAM; KGFR; TK14; TK25
Exon (15)2637..2707
Gene:FGFR2
Gene Synonym:BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1; JWS; K-SAM; KGFR; TK14; TK25
Exon (16)2708..2845
Gene:FGFR2
Gene Synonym:BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1; JWS; K-SAM; KGFR; TK14; TK25
Exon (17)2846..2951
Gene:FGFR2
Gene Synonym:BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1; JWS; K-SAM; KGFR; TK14; TK25
Exon (18)2952..4643
Gene:FGFR2
Gene Synonym:BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1; JWS; K-SAM; KGFR; TK14; TK25
Translation MVSWGRFICLVVVTMATLSLARPSFSLVEDTTLEPEEPPTKYQISQPEVYVAAPGESLEV RCLLKDAAVISWTKDGVHLGPNNRTVLIGEYLQIKGATPRDSGLYACTASRTVDSETWYF MVNVTDAISSGDDEDDTDGAEDFVSENSNNKRAPYWTNTEKMEKRLHAVPAANTVKFRCP AGGNPMPTMRWLKNGKEFKQEHRIGGYKVRNQHWSLIMESVVPSDKGNYTCVVENEYGSI NHTYHLDVVERSPHRPILQAGLPANASTVVGGDVEFVCKVYSDAQPHIQWIKHVEKNGSK YGPDGLPYLKVLKHSGINSSNAEVLALFNVTEADAGEYICKVSNYIGQANQSAWLTVLPK QQAPGREKEITASPDYLEIAIYCIGVFLIACMVVTVILCRMKNTTKKPDFSSQPAVHKLT KRIPLRRQVTVSAESSSSMNSNTPLVRITTRLSSTADTPMLAGVSEYELPEDPKWEFPRD KLTLGKPLGEGCFGQVVMAEAVGIDKDKPKEAVTVAVKMLKDDATEKDLSDLVSEMEMMK MIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLRARRPPGMEYSYDINRVPEEQMT FKDLVSCTYQLARGMEYLASQKCIHRDLAARNVLVTENNVMKIADFGLARDINNIDYYKK TTNGRLPVKWMAPEALFDRVYTHQSDVWSFGVLMWEIFTLGGSPYPGIPVEELFKLLKEG HRMDKPANCTNELYMMMRDCWHAVPSQRPTFKQLVEDLDRILTLTTNEEYLDLSQPLEQY SPSYPDTRSSCSSGDDSVFSPDPMPYEPCLPQYPHINGSVKT
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Position Chain Variation Link
complement(77)-dbSNP:
complement(77)-t, cdbSNP:41301041
complement(190)-c, adbSNP:41301043
complement(290)-t, cdbSNP:41301545
complement(330)-g, cdbSNP:41301547
complement(351..352)-, ccdbSNP:41301549
complement(412)-g, c, adbSNP:1047111
complement(491)-t, cdbSNP:41258305
complement(573)-g, adbSNP:41287990
complement(574)-g, adbSNP:4647922
complement(587)-t, gdbSNP:3135721
complement(602)-t, cdbSNP:201606812
complement(663)-g, adbSNP:141724446
complement(664)-g, cdbSNP:3750819
complement(670)-c, adbSNP:147307031
complement(680)-g, adbSNP:200562301
complement(681)-t, cdbSNP:143978938
complement(712)-t, cdbSNP:189010277
complement(790)-dbSNP:
complement(790)-t, gdbSNP:200700308
complement(806)-g, adbSNP:1047102
complement(807)-g, adbSNP:151126801
complement(817)-g, adbSNP:56226109
complement(829)-t, cdbSNP:199575491
complement(843)-t, cdbSNP:148514974
complement(847)-g, adbSNP:145746586
complement(848)-g, adbSNP:200386134
complement(898)-c, adbSNP:144714823
complement(910)-g, adbSNP:200369248
complement(935)-g, adbSNP:55806379
complement(941)-g, adbSNP:1047101
complement(1000)-c, adbSNP:139263005
complement(1056)-dbSNP:
complement(1056)-, tdbSNP:66786077
complement(1120)-dbSNP:
complement(1120)-t, cdbSNP:112880592
complement(1128..1129)-, tdbSNP:66499770
complement(1137..1138)-, tdbSNP:67257519
complement(1141)-t, cdbSNP:146244307
complement(1165)-, tdbSNP:66528422
complement(1180)-t, cdbSNP:141796960
complement(1184)-g, adbSNP:139617492
complement(1190)-g, adbSNP:150598483
complement(1191)-c, adbSNP:200766273
complement(1198)-t, adbSNP:202212545
complement(1203)-t, cdbSNP:55977237
complement(1204)-t, cdbSNP:755793
complement(1215)-g, adbSNP:147987917
complement(1241)-, adbSNP:66787629
complement(1330)-dbSNP:
complement(1330)-t, adbSNP:146948953
complement(1343)-g, adbSNP:1047100
complement(1376)-t, cdbSNP:199890227
1402..1404+dbSNP:
1402..1404+cgc, tctdbSNP:281865420
complement(1402..1403)-tt, cgdbSNP:121918498
complement(1402)-g, cdbSNP:79184941
complement(1403)-t, cdbSNP:138769323
complement(1405)-g, cdbSNP:77543610
complement(1406)-t, gdbSNP:3135755
complement(1410)-g, adbSNP:149200230
complement(1412)-g, cdbSNP:200759234
complement(1436)-t, cdbSNP:138315382
complement(1441)-, tdbSNP:67982286
complement(1446)-t, cdbSNP:121918505
complement(1457)-g, adbSNP:150488750
complement(1458)-t, cdbSNP:183250272
complement(1464..1466)-, gacdbSNP:121918503
complement(1466)-g, adbSNP:140427785
complement(1513)-c, adbSNP:121918497
complement(1515)-t, g, cdbSNP:121918501
1517+c, g, tdbSNP:121918499
complement(1521)-g, adbSNP:121918500
complement(1526)-g, adbSNP:55745510
complement(1563)-g, cdbSNP:199937788
complement(1572)-t, cdbSNP:4647921
complement(1576)-g, adbSNP:121913475
complement(1588)-dbSNP:
complement(1588)-g, adbSNP:3206759
complement(1594)-t, gdbSNP:1129324
complement(1596)-t, g, adbSNP:1143401
complement(1609)-c, adbSNP:1129323
complement(1610)-t, gdbSNP:1129322
complement(1618)-t, adbSNP:1129321
complement(1620)-c, adbSNP:1129320
complement(1628)-g, adbSNP:1143402
complement(1637)-g, adbSNP:1129318
complement(1645)-c, adbSNP:1047095
complement(1649)-t, cdbSNP:1047090
complement(1663)-t, cdbSNP:1047088
complement(1664)-g, adbSNP:1047087
complement(1672)-t, gdbSNP:1065581
complement(1681)-c, adbSNP:1047083
complement(1682)-g, adbSNP:187206427
complement(1685)-t, adbSNP:1047082
complement(1689)-c, adbSNP:1065582
complement(1691)-t, gdbSNP:1047078
complement(1696)-t, adbSNP:1047077
complement(1700)-g, cdbSNP:1047076
complement(1706)-c, adbSNP:1047074
complement(1710)-t, cdbSNP:1129316
complement(1712)-g, cdbSNP:1129314
complement(1715)-t, adbSNP:1129313
complement(1718)-t, cdbSNP:1129312
complement(1736)-dbSNP:
complement(1736)-t, cdbSNP:151250769
complement(1753)-t, adbSNP:143645832
complement(1765)-g, cdbSNP:121913477
complement(1774)-g, adbSNP:121913478
complement(1794)-t, cdbSNP:121913474
complement(1889)-t, cdbSNP:147674677
complement(1952)-dbSNP:
complement(1952)-g, adbSNP:141297318
complement(1953)-t, cdbSNP:146589618
complement(1976)-g, adbSNP:184889995
complement(1977)-g, cdbSNP:7078073
complement(1980)-g, adbSNP:143361368
complement(2011)-g, adbSNP:148672240
complement(2012)-t, cdbSNP:200183009
complement(2091)-dbSNP:
complement(2091)-g, adbSNP:144116729
complement(2105)-t, cdbSNP:149962204
complement(2183)-t, cdbSNP:138985383
complement(2189)-g, adbSNP:74160617
complement(2198)-t, cdbSNP:200522893
complement(2212)-dbSNP:
complement(2212)-t, cdbSNP:55689343
complement(2222)-t, cdbSNP:74160613
complement(2226)-g, adbSNP:121918507
complement(2297)-t, adbSNP:121913476
complement(2318..2319)-, cdbSNP:67738896
complement(2344)-dbSNP:
complement(2344)-c, adbSNP:121918506
complement(2397)-t, cdbSNP:138712692
complement(2411)-g, adbSNP:147173572
complement(2424)-g, adbSNP:141929882
complement(2435)-t, cdbSNP:55724054
complement(2438)-t, cdbSNP:56335660
complement(2510)-t, cdbSNP:143796403
complement(2532)-dbSNP:
complement(2532)-g, adbSNP:121918509
complement(2561)-g, adbSNP:149008039
complement(2580)-t, cdbSNP:138631412
complement(2591)-t, cdbSNP:35337478
complement(2592)-g, adbSNP:121918508
complement(2640)-dbSNP:
complement(2640)-g, adbSNP:113014479
complement(2651)-g, cdbSNP:61731218
complement(2687)-t, cdbSNP:141253851
complement(2728)-dbSNP:
complement(2728)-g, adbSNP:146571201
complement(2755)-g, adbSNP:150015885
complement(2774)-g, adbSNP:140813163
complement(2839)-t, cdbSNP:200453002
complement(2840)-g, adbSNP:55637244
complement(2882)-dbSNP:
complement(2882)-g, adbSNP:142639988
complement(2888)-g, cdbSNP:116895810
complement(2926)-t, cdbSNP:55774317
complement(2939)-t, cdbSNP:41294229
complement(2958)-dbSNP:
complement(2958)-g, adbSNP:201752803
complement(2978)-g, adbSNP:148478597
complement(2996)-c, adbSNP:147439731
complement(3099)-t, cdbSNP:144176428
complement(3107)-g, adbSNP:140318221
complement(3266)-t, gdbSNP:184026174
complement(3300)-t, cdbSNP:4647917
complement(3374)-t, adbSNP:1047058
complement(3375)-t, cdbSNP:1047057
complement(3406)-t, cdbSNP:3135824
complement(3437)-g, adbSNP:3135825
complement(3440)-t, cdbSNP:150519853
complement(3501)-g, adbSNP:41294349
complement(3510..3511)-, tdbSNP:35819635
complement(3519)-g, adbSNP:3135826
complement(3583)-t, gdbSNP:191969195
complement(3585)-g, adbSNP:41294351
complement(3613)-t, cdbSNP:3135827
complement(3763)-t, adbSNP:185913671
complement(3853)-g, cdbSNP:3135828
complement(3865..3866)-, cdbSNP:36087207
complement(3868..3869)-, gdbSNP:34055669
complement(3944)-t, cdbSNP:201270816
complement(3990)-t, cdbSNP:55723405
complement(3995..3996)-, tdbSNP:35899971
complement(4037)-t, cdbSNP:185617859
complement(4041)-t, cdbSNP:3135829
complement(4042)-t, cdbSNP:181383630
complement(4076)-t, cdbSNP:41294353
complement(4256)-t, cdbSNP:189063367
complement(4417)-g, adbSNP:71640261
complement(4435)-g, adbSNP:3135830
complement(4618)-, ataaadbSNP:41294355
complement(4628)-t, cdbSNP:141765473
Gene SymbolFGFR2
Gene SynonymBBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1; JWS; K-SAM; KGFR; TK14; TK25
Chromosome10
Locus Map10q26
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000141 Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA. Full Length $1628.90
ORF Sequence $715.14
NM_001144913 Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 3, mRNA. Full Length $806.49
ORF Sequence $669.90
NM_001144914 Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 4, mRNA. Full Length $1337.35
ORF Sequence $617.70
NM_001144915 Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 5, mRNA. Full Length $1297.80
ORF Sequence $615.96
NM_001144916 Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 6, mRNA. Full Length $1436.05
ORF Sequence $615.09
NM_001144917 Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 7, mRNA. Full Length $1507.10
ORF Sequence $614.22
NM_001144918 Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 8, mRNA. Full Length $1506.05
ORF Sequence $613.35
NM_001144919 Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 9, mRNA. Full Length $1053.85
ORF Sequence $592.47
NM_022970 Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 2, mRNA. Full Length $1629.95
ORF Sequence $716.01
NM_023029 Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 11, mRNA. Full Length $1361.50
ORF Sequence $637.71
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 Tooth agenesis association with self-reported family history of cancer .
Author Kuchler,E.C., Lips,A., Tannure,P.N., Ho,B., Costa,M.C., Granjeiro,J.M. and Vieira,A.R.
Journal J. Dent. Res. 92 (2), 149-155 (2013)
Title CCN2/CTGF binds to fibroblast growth factor receptor 2 and modulates its signaling .
Author Aoyama,E., Kubota,S. and Takigawa,M.
Journal FEBS Lett. 586 (24), 4270-4275 (2012)
Title Ventricular septal defect in Crouzon Syndrome: case report .
Author Hazan,F., Aykut,A., Unalp,A., Mese,T., Unal,N., Onay,H. and Ozkinay,F.
Journal Genet. Couns. 23 (4), 519-522 (2012)
Title Investigation of FGFR2-IIIC signaling via FGF-2 ligand for advancing GCT stromal cell differentiation .
Author Singh,S., Singh,M., Mak,I.W., Turcotte,R. and Ghert,M.
Journal PLoS ONE 7 (10), E46769 (2012)
Title A novel form of fibroblast growth factor receptor 2. Alternative splicing of the third immunoglobulin-like domain confers ligand binding specificity .
Author Dell,K.R. and Williams,L.T.
Journal J. Biol. Chem. 267 (29), 21225-21229 (1992)
Title Expression of basic fibroblast growth factor, FGFR1 and FGFR2 in normal and malignant human breast, and comparison with other normal tissues .
Author Luqmani,Y.A., Graham,M. and Coombes,R.C.
Journal Br. J. Cancer 66 (2), 273-280 (1992)
Title K-sam gene encodes secreted as well as transmembrane receptor tyrosine kinase .
Author Katoh,M., Hattori,Y., Sasaki,H., Tanaka,M., Sugano,K., Yazaki,Y., Sugimura,T. and Terada,M.
Journal Proc. Natl. Acad. Sci. U.S.A. 89 (7), 2960-2964 (1992)
Title Determination of ligand-binding specificity by alternative splicing: two distinct growth factor receptors encoded by a single gene .
Author Miki,T., Bottaro,D.P., Fleming,T.P., Smith,C.L., Burgess,W.H., Chan,A.M. and Aaronson,S.A.
Journal Proc. Natl. Acad. Sci. U.S.A. 89 (1), 246-250 (1992)
Title BEK, a receptor for multiple members of the fibroblast growth factor (FGF) family, maps to human chromosome 10q25.3----q26 .
Author Dionne,C.A., Modi,W.S., Crumley,G., O'Brien,S.J., Schlessinger,J. and Jaye,M.
Journal Cytogenet. Cell Genet. 60 (1), 34-36 (1992)

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