ID FGOP2_HUMAN Reviewed; 253 AA.
AC Q9NVK5; Q6R955; Q8N5L7; Q9P034; Q9UFK8;
DT 21-AUG-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 24-JAN-2024, entry version 148.
DE RecName: Full=FGFR1 oncogene partner 2;
GN Name=FGFR1OP2; ORFNames=HSPC123;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Blood;
RX PubMed=11042152; DOI=10.1101/gr.140200;
RA Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G.,
RA Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W.,
RA Tao J., Huang Q.-H., Zhou J., Hu G.-X., Gu J., Chen S.-J., Chen Z.;
RT "Cloning and functional analysis of cDNAs with open reading frames for 300
RT previously undefined genes expressed in CD34+ hematopoietic stem/progenitor
RT cells.";
RL Genome Res. 10:1546-1560(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RA Lin L., Zhong G., Ke R., Li H., Zhou G., Shen C., Yang S.;
RL Submitted (DEC-2003) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Uterus;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 47-253 (ISOFORM 2).
RC TISSUE=Brain;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [6]
RP CHROMOSOMAL TRANSLOCATION WITH FGFR1.
RX PubMed=15034873; DOI=10.1002/gcc.20023;
RA Grand E.K., Grand F.H., Chase A.J., Ross F.M., Corcoran M.M., Oscier D.G.,
RA Cross N.C.P.;
RT "Identification of a novel gene, FGFR1OP2, fused to FGFR1 in 8p11
RT myeloproliferative syndrome.";
RL Genes Chromosomes Cancer 40:78-83(2004).
RN [7]
RP CHROMOSOMAL TRANSLOCATION WITH FGFR1.
RX PubMed=16946300; DOI=10.1182/blood-2006-06-026666;
RA Gu T.-L., Goss V.L., Reeves C., Popova L., Nardone J., Macneill J.,
RA Walters D.K., Wang Y., Rush J., Comb M.J., Druker B.J., Polakiewicz R.D.;
RT "Phosphotyrosine profiling identifies the KG-1 cell line as a model for the
RT study of FGFR1 fusions in acute myeloid leukemia.";
RL Blood 108:4202-4204(2006).
RN [8]
RP CHROMOSOMAL TRANSLOCATION WITH FGFR1.
RX PubMed=17389761; DOI=10.1182/blood-2006-12-065615;
RA Dong S., Kang S., Gu T., Kardar S., Fu H., Lonial S., Khoury H.J.,
RA Khuri F., Chen J.;
RT "14-3-3 integrates pro-survival signals mediated by the AKT and MAPK
RT pathways in ZNF198-FGFR1 transformed hematopoietic cells.";
RL Blood 110:360-369(2007).
RN [9]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-141, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [10]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- FUNCTION: May be involved in wound healing pathway. {ECO:0000250}.
CC -!- INTERACTION:
CC Q9NVK5; Q96CS2: HAUS1; NbExp=3; IntAct=EBI-1104764, EBI-2514791;
CC Q9NVK5-3; P57075-2: UBASH3A; NbExp=3; IntAct=EBI-12377025, EBI-7353612;
CC Q9NVK5-3; Q53FD0-2: ZC2HC1C; NbExp=3; IntAct=EBI-12377025, EBI-14104088;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9NVK5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NVK5-2; Sequence=VSP_027538;
CC Name=3;
CC IsoId=Q9NVK5-3; Sequence=VSP_027539, VSP_027540;
CC -!- TISSUE SPECIFICITY: Expressed in bone marrow, spleen and thymus.
CC -!- DISEASE: Note=A chromosomal aberration involving FGFR1OP2 may be a
CC cause of stem cell myeloproliferative disorder (MPD). Insertion
CC ins(12;8)(p11;p11p22) with FGFR1. MPD is characterized by myeloid
CC hyperplasia, eosinophilia and T-cell or B-cell lymphoblastic lymphoma.
CC In general it progresses to acute myeloid leukemia. The fusion protein
CC FGFR1OP2-FGFR1 may exhibit constitutive kinase activity and be
CC responsible for the transforming activity.
CC -!- SIMILARITY: Belongs to the SIKE family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAF29087.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=CAB56012.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AF161472; AAF29087.1; ALT_FRAME; mRNA.
DR EMBL; AK001534; BAA91745.1; -; mRNA.
DR EMBL; AY506561; AAR91611.1; -; mRNA.
DR EMBL; BC032143; AAH32143.1; -; mRNA.
DR EMBL; AL117608; CAB56012.1; ALT_FRAME; mRNA.
DR CCDS; CCDS53766.1; -. [Q9NVK5-3]
DR CCDS; CCDS53767.1; -. [Q9NVK5-2]
DR CCDS; CCDS8709.1; -. [Q9NVK5-1]
DR PIR; T17322; T17322.
DR RefSeq; NP_001165358.1; NM_001171887.1. [Q9NVK5-2]
DR RefSeq; NP_001165359.1; NM_001171888.1. [Q9NVK5-3]
DR RefSeq; NP_056448.1; NM_015633.2. [Q9NVK5-1]
DR AlphaFoldDB; Q9NVK5; -.
DR SMR; Q9NVK5; -.
DR BioGRID; 117566; 98.
DR IntAct; Q9NVK5; 60.
DR STRING; 9606.ENSP00000229395; -.
DR GlyGen; Q9NVK5; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9NVK5; -.
DR MetOSite; Q9NVK5; -.
DR PhosphoSitePlus; Q9NVK5; -.
DR BioMuta; FGFR1OP2; -.
DR DMDM; 74734519; -.
DR EPD; Q9NVK5; -.
DR jPOST; Q9NVK5; -.
DR MassIVE; Q9NVK5; -.
DR MaxQB; Q9NVK5; -.
DR PaxDb; 9606-ENSP00000229395; -.
DR PeptideAtlas; Q9NVK5; -.
DR ProteomicsDB; 82818; -. [Q9NVK5-1]
DR ProteomicsDB; 82819; -. [Q9NVK5-2]
DR ProteomicsDB; 82820; -. [Q9NVK5-3]
DR Pumba; Q9NVK5; -.
DR Antibodypedia; 24359; 238 antibodies from 24 providers.
DR DNASU; 26127; -.
DR Ensembl; ENST00000229395.8; ENSP00000229395.3; ENSG00000111790.14. [Q9NVK5-1]
DR Ensembl; ENST00000327214.5; ENSP00000323763.5; ENSG00000111790.14. [Q9NVK5-2]
DR Ensembl; ENST00000546072.5; ENSP00000437556.1; ENSG00000111790.14. [Q9NVK5-3]
DR GeneID; 26127; -.
DR KEGG; hsa:26127; -.
DR MANE-Select; ENST00000229395.8; ENSP00000229395.3; NM_015633.3; NP_056448.1.
DR UCSC; uc001rhl.4; human. [Q9NVK5-1]
DR AGR; HGNC:23098; -.
DR CTD; 26127; -.
DR DisGeNET; 26127; -.
DR GeneCards; FGFR1OP2; -.
DR HGNC; HGNC:23098; FGFR1OP2.
DR HPA; ENSG00000111790; Low tissue specificity.
DR MIM; 608858; gene.
DR neXtProt; NX_Q9NVK5; -.
DR OpenTargets; ENSG00000111790; -.
DR PharmGKB; PA134972108; -.
DR VEuPathDB; HostDB:ENSG00000111790; -.
DR eggNOG; ENOG502QSAD; Eukaryota.
DR GeneTree; ENSGT00390000018003; -.
DR HOGENOM; CLU_073167_1_0_1; -.
DR InParanoid; Q9NVK5; -.
DR OMA; DHENTAD; -.
DR OrthoDB; 5396923at2759; -.
DR PhylomeDB; Q9NVK5; -.
DR TreeFam; TF324337; -.
DR PathwayCommons; Q9NVK5; -.
DR Reactome; R-HSA-1839117; Signaling by cytosolic FGFR1 fusion mutants.
DR Reactome; R-HSA-5655302; Signaling by FGFR1 in disease.
DR SignaLink; Q9NVK5; -.
DR BioGRID-ORCS; 26127; 86 hits in 1154 CRISPR screens.
DR ChiTaRS; FGFR1OP2; human.
DR GenomeRNAi; 26127; -.
DR Pharos; Q9NVK5; Tbio.
DR PRO; PR:Q9NVK5; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q9NVK5; Protein.
DR Bgee; ENSG00000111790; Expressed in calcaneal tendon and 186 other cell types or tissues.
DR ExpressionAtlas; Q9NVK5; baseline and differential.
DR Genevisible; Q9NVK5; HS.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0042802; F:identical protein binding; IEA:Ensembl.
DR GO; GO:0009611; P:response to wounding; IBA:GO_Central.
DR GO; GO:0042060; P:wound healing; IEA:Ensembl.
DR InterPro; IPR008555; SIKE.
DR PANTHER; PTHR12186:SF3; FGFR1 ONCOGENE PARTNER 2; 1.
DR PANTHER; PTHR12186; SIKE FAMILY MEMBER; 1.
DR Pfam; PF05769; SIKE; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Chromosomal rearrangement; Coiled coil; Cytoplasm;
KW Phosphoprotein; Reference proteome.
FT CHAIN 1..253
FT /note="FGFR1 oncogene partner 2"
FT /id="PRO_0000299041"
FT REGION 231..253
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 5..104
FT /evidence="ECO:0000255"
FT COILED 160..223
FT /evidence="ECO:0000255"
FT SITE 132..133
FT /note="Breakpoint for translocation to form FGFR1OP2-FGFR1"
FT MOD_RES 141
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 133..170
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11042152,
FT ECO:0000303|PubMed:17974005, ECO:0000303|Ref.3"
FT /id="VSP_027538"
FT VAR_SEQ 171..172
FT /note="EL -> VH (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_027539"
FT VAR_SEQ 173..253
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_027540"
FT CONFLICT 47
FT /note="Q -> W (in Ref. 5; CAB56012)"
FT /evidence="ECO:0000305"
FT CONFLICT 227
FT /note="N -> T (in Ref. 3; AAR91611)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 253 AA; 29426 MW; 89F60BF3F96C3436 CRC64;
MSCTIEKALA DAKALVERLR DHDDAAESLI EQTTALNKRV EAMKQYQEEI QELNEVARHR
PRSTLVMGIQ QENRQIRELQ QENKELRTSL EEHQSALELI MSKYREQMFR LLMASKKDDP
GIIMKLKEQH SKIDMVHRNK SEGFFLDASR HILEAPQHGL ERRHLEANQN ELQAHVDQIT
EMAAVMRKAI EIDEQQGCKE QERIFQLEQE NKGLREILQI TRESFLNLRK DDASESTSLS
ALVTNSDLSL RKS
//
