FGFR1OP2

gene
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Also known as DKFZp564O1863

Summary

FGFR1OP2 (FGFR1 oncogene partner 2, HGNC:23098) is a protein-coding gene on chromosome 12p11.23, encoding FGFR1 oncogene partner 2 (Q9NVK5). May be involved in wound healing pathway. It is a selective cancer dependency (DepMap: 14.8% of cell lines).

Predicted to enable identical protein binding activity. Predicted to be involved in response to wounding. Predicted to act upstream of or within wound healing. Predicted to be located in cytosol.

Source: NCBI Gene 26127 — RefSeq curated summary.

At a glance

  • GWAS associations: 2
  • Clinical variants (ClinVar): 34 total
  • Cancer dependency (DepMap): dependent in 14.8% of screened cell lines
  • MANE Select transcript: NM_015633

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:23098
Approved symbolFGFR1OP2
NameFGFR1 oncogene partner 2
Location12p11.23
Locus typegene with protein product
StatusApproved
AliasesDKFZp564O1863
Ensembl geneENSG00000111790
Ensembl biotypeprotein_coding
OMIM608858
Entrez26127

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 16 protein_coding, 2 retained_intron

ENST00000229395, ENST00000327214, ENST00000395941, ENST00000538172, ENST00000544111, ENST00000546072, ENST00000887799, ENST00000887800, ENST00000887801, ENST00000887802, ENST00000887803, ENST00000887804, ENST00000915792, ENST00000972030, ENST00000972031, ENST00000972032, ENST00000972033, ENST00000972034

RefSeq mRNA: 3 — MANE Select: NM_015633 NM_001171887, NM_001171888, NM_015633

CCDS: CCDS53766, CCDS53767, CCDS8709

Canonical transcript exons

ENST00000229395 — 7 exons

ExonStartEnd
ENSE000007327092696051526960628
ENSE000009365872695760126957743
ENSE000011891982696459626966648
ENSE000013469612696334226963455
ENSE000013469902693847026938710
ENSE000035101282695414526954293
ENSE000035219092695654326956660

Expression profiles

Bgee: expression breadth ubiquitous, 262 present calls, max score 96.62.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.2315 / max 566.8922, expressed in 1815 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter IDTPM avgSamples expressed
12482218.47271795
12482315.64811775
1248212.0986902
1248250.6830341
1248240.3143130
1248260.01487

Top tissues by expression

262 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
calcaneal tendonUBERON:000370196.62gold quality
monocyteCL:000057696.00gold quality
left ovaryUBERON:000211995.99gold quality
leukocyteCL:000073895.74gold quality
right ovaryUBERON:000211895.41gold quality
secondary oocyteCL:000065595.33gold quality
corpus callosumUBERON:000233695.21gold quality
Brodmann (1909) area 9UBERON:001354095.11gold quality
lymph nodeUBERON:000002994.91gold quality
ovaryUBERON:000099294.69gold quality
oocyteCL:000002394.62gold quality
C1 segment of cervical spinal cordUBERON:000646994.62gold quality
epithelial cell of pancreasCL:000008394.44gold quality
spinal cordUBERON:000224094.30gold quality
left adrenal glandUBERON:000123494.10gold quality
vermiform appendixUBERON:000115494.01gold quality
cardiac muscle of right atriumUBERON:000337993.96gold quality
bone marrowUBERON:000237193.94gold quality
right adrenal glandUBERON:000123393.91gold quality
tibial nerveUBERON:000132393.90gold quality
left adrenal gland cortexUBERON:003582593.90gold quality
tendonUBERON:000004393.76gold quality
gall bladderUBERON:000211093.71gold quality
adrenal cortexUBERON:000123593.68gold quality
dorsolateral prefrontal cortexUBERON:000983493.67gold quality
smooth muscle tissueUBERON:000113593.66gold quality
thymusUBERON:000237093.59gold quality
adrenal glandUBERON:000236993.56gold quality
superior frontal gyrusUBERON:000266193.53gold quality
right adrenal gland cortexUBERON:003582793.45gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-MTAB-9221yes12.22
E-MTAB-11011no225.00
E-ANND-3no0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

154 targeting FGFR1OP2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3163100.0077.238605
HSA-MIR-5692A100.0074.406850
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-340-5P100.0072.504437
HSA-MIR-428299.9975.366408
HSA-MIR-513B-5P99.9969.962150
HSA-MIR-196A-1-3P99.9972.152772
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-371B-5P99.9975.344759
HSA-MIR-477599.9875.006394
HSA-MIR-1213699.9872.815713
HSA-MIR-4482-3P99.9872.503147
HSA-MIR-480399.9871.993117
HSA-MIR-373-5P99.9875.364753
HSA-MIR-616-5P99.9875.584775
HSA-MIR-548P99.9872.253784
HSA-MIR-314899.9775.066478
HSA-MIR-590-3P99.9674.346478
HSA-MIR-548AJ-3P99.9673.385345
HSA-MIR-548X-3P99.9673.385345
HSA-MIR-365899.9673.874379
HSA-MIR-55999.9572.283609
HSA-MIR-548AB99.9571.313488
HSA-MIR-548AP-5P99.9471.143489
HSA-MIR-548J-5P99.9471.143489
HSA-MIR-548A-5P99.9471.273482
HSA-MIR-548AD-5P99.9471.233502
HSA-MIR-548AE-5P99.9471.233502
HSA-MIR-548AK99.9471.243488
HSA-MIR-548AM-5P99.9471.243488

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 14.8% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 4)

  • FGFR1OP2 is a new FGFR1 fusion gene involving a chromosomes 12X8 translocation in a 8p11 myeloproliferative syndrome patient. (PMID:15034873)
  • FGFR1OP2/wit3.0 may regulate cell motility and stimulate wound closure. (PMID:19959814)
  • patients with the minor allele of rs840869 or rs859024 of FGFR1OP2 were associated with excessive atrophy of edentulous mandible (PMID:21283824)
  • The patient with minor allele of ss518063493 may be associated with excessive atrophy of edentulous mandible whereas the patients with that of rs840869 are not associated in Korean population. (PMID:22880093)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_reriofgfr1op2ENSDARG00000009657
mus_musculusFgfr1op2ENSMUSG00000040242
rattus_norvegicusFgfr1op2ENSRNOG00000001811
drosophila_melanogasterFgop2FBGN0031871
caenorhabditis_elegansWBGENE00007579

Paralogs (1): SIKE1 (ENSG00000052723)

Protein

Protein identifiers

FGFR1 oncogene partner 2Q9NVK5 (reviewed: Q9NVK5)

All UniProt accessions (2): Q9NVK5, F5GX47

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in wound healing pathway.

Subcellular location. Cytoplasm.

Tissue specificity. Expressed in bone marrow, spleen and thymus.

Disease relevance. A chromosomal aberration involving FGFR1OP2 may be a cause of stem cell myeloproliferative disorder (MPD). Insertion ins(12;8)(p11;p11p22) with FGFR1. MPD is characterized by myeloid hyperplasia, eosinophilia and T-cell or B-cell lymphoblastic lymphoma. In general it progresses to acute myeloid leukemia. The fusion protein FGFR1OP2-FGFR1 may exhibit constitutive kinase activity and be responsible for the transforming activity.

Similarity. Belongs to the SIKE family.

Isoforms (3)

UniProt IDNamesCanonical?
Q9NVK5-11yes
Q9NVK5-22
Q9NVK5-33

RefSeq proteins (3): NP_001165358, NP_001165359, NP_056448* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR008555SIKEFamily

Pfam: PF05769

UniProt features (12 total): splice variant 3, sequence conflict 2, coiled-coil region 2, chain 1, region of interest 1, compositionally biased region 1, site 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9NVK5-F178.590.44

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 132–133 (breakpoint for translocation to form fgfr1op2-fgfr1)

Post-translational modifications (1): 141

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

IDPathway
R-HSA-1839117Signaling by cytosolic FGFR1 fusion mutants
R-HSA-5655302Signaling by FGFR1 in disease

MSigDB gene sets: 167 (showing top): RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GGGTGGRR_PAX4_03, AAAYRNCTG_UNKNOWN, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_UP, FOXD3_01, chr12p11, GOBP_WOUND_HEALING, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, PYEON_CANCER_HEAD_AND_NECK_VS_CERVICAL_UP, DODD_NASOPHARYNGEAL_CARCINOMA_UP, AACTTT_UNKNOWN, ATAACCT_MIR154, NRF2_01, ZHANG_BREAST_CANCER_PROGENITORS_UP

GO Biological Process (2): response to wounding (GO:0009611), wound healing (GO:0042060)

GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (2): cytosol (GO:0005829), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-2 pathways:

CategoryPathways
FGFR1 mutant receptor activation1
Signaling by FGFR in disease1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure2
response to stress1
response to wounding1
tissue regeneration1
protein binding1
binding1
cytoplasm1
intracellular anatomical structure1

Protein interactions and networks

STRING

674 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
FGFR1OP2ZMYM2Q9UBW7870
FGFR1OP2SLMAPQ14BN4842
FGFR1OP2FGFR1P11362818
FGFR1OP2MYO18AQ92614791
FGFR1OP2CEP43O95684781
FGFR1OP2CTTNBP2NLQ9P2B4677
FGFR1OP2ZNF112Q9UJU3641
FGFR1OP2STRIP1Q5VSL9589
FGFR1OP2TRAF3IP3Q9Y228572
FGFR1OP2MOB4Q9Y3A3563
FGFR1OP2SIKE1Q9BRV8554
FGFR1OP2TRIM24O15164531
FGFR1OP2TM7SF3Q9NS93521
FGFR1OP2STRIP2Q9ULQ0514
FGFR1OP2STRN4Q9NRL3483

IntAct

76 interactions, top by confidence:

ABTypeScore
PDCD10STK25psi-mi:“MI:0914”(association)0.980
STK25STRNpsi-mi:“MI:0914”(association)0.900
STK24STK25psi-mi:“MI:0914”(association)0.890
PPP2R1ASTRNpsi-mi:“MI:0914”(association)0.880
STRN3STK25psi-mi:“MI:0914”(association)0.880
STRN3STRNpsi-mi:“MI:0914”(association)0.880
STRN3STRNpsi-mi:“MI:2364”(proximity)0.880
STK24STRNpsi-mi:“MI:0914”(association)0.870
STRIP1PPP2CBpsi-mi:“MI:0914”(association)0.870
STK26STRNpsi-mi:“MI:0914”(association)0.860
STRIP1STK25psi-mi:“MI:0914”(association)0.840
SIKE1SLMAPpsi-mi:“MI:0914”(association)0.770
MOB4STK25psi-mi:“MI:0914”(association)0.730
SIKE1STRNpsi-mi:“MI:0914”(association)0.730
PSMC5PSMD11psi-mi:“MI:0914”(association)0.730
SLMAPSTRNpsi-mi:“MI:0914”(association)0.710
SLMAPSTRNpsi-mi:“MI:2364”(proximity)0.710
STK4STRNpsi-mi:“MI:0914”(association)0.610
STK4STRNpsi-mi:“MI:2364”(proximity)0.610
HAUS1FGFR1OP2psi-mi:“MI:0915”(physical association)0.560
StrnPPP2R1Apsi-mi:“MI:2364”(proximity)0.540

BioGRID (171): HAUS1 (Two-hybrid), FGFR1OP2 (Affinity Capture-MS), FGFR1OP2 (Affinity Capture-MS), FGFR1OP2 (Affinity Capture-MS), FGFR1OP2 (Affinity Capture-MS), FGFR1OP2 (Affinity Capture-MS), CAV1 (Affinity Capture-MS), STOM (Affinity Capture-MS), GANC (Affinity Capture-MS), NDUFS1 (Affinity Capture-MS), PHB (Affinity Capture-MS), PPP2CA (Affinity Capture-MS), PPP2R1A (Affinity Capture-MS), PPP2R1B (Affinity Capture-MS), STRN (Affinity Capture-MS)

ESM2 similar proteins: A1YB07, A4IGC3, A5PJI6, A8NJZ7, B1PRL5, B8AE37, O08970, O35867, O46480, O94876, P57077, P58500, Q0P4J3, Q0V9C8, Q29EP6, Q2KI75, Q2KJD6, Q3E784, Q3SZV2, Q4R4S6, Q5BKX8, Q5ZMC9, Q66J96, Q66JL0, Q69ZZ6, Q6AYB8, Q6DBR9, Q6DDT0, Q6DFB7, Q6GNW0, Q6IP02, Q6K678, Q6P402, Q6SXP0, Q6TA25, Q78PB6, Q8BHS8, Q8CCX5, Q8N6V9, Q8R2X8

Diamond homologs: O02197, Q0VCF3, Q5FWT9, Q5I033, Q5R561, Q5R8J5, Q5ZKJ4, Q6DF11, Q6GP65, Q6TA25, Q7T338, Q8AVR2, Q9BRV8, Q9CPR7, Q9CRA9, Q9NVK5, Q9VM65

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 57 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
Degradation of beta-catenin by the destruction complex740.4×1e-07
Separation of Sister Chromatids612.2×2e-04

GO biological processes:

GO termPartnersFoldFDR
negative regulation of hippo signaling7106.8×7e-11
protein autophosphorylation618.9×7e-05
protein phosphorylation710.3×3e-04
intracellular signal transduction108.3×4e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

34 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance27
Likely benign1
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1088 predictions. Top by Δscore:

VariantEffectΔscore
12:26938599:G:GTdonor_gain1.0000
12:26938709:GA:Gdonor_gain1.0000
12:26938711:G:GGdonor_gain1.0000
12:26954143:A:AGacceptor_gain1.0000
12:26954144:G:GGacceptor_gain1.0000
12:26954144:GAT:Gacceptor_gain1.0000
12:26954144:GATAT:Gacceptor_gain1.0000
12:26954273:C:Tdonor_gain1.0000
12:26954292:AGG:Adonor_loss1.0000
12:26954293:GGTTT:Gdonor_loss1.0000
12:26954294:G:Adonor_loss1.0000
12:26954295:T:Adonor_loss1.0000
12:26956538:A:AGacceptor_gain1.0000
12:26956539:TTA:Tacceptor_loss1.0000
12:26956541:A:AGacceptor_gain1.0000
12:26956541:A:ATacceptor_loss1.0000
12:26956542:G:GTacceptor_gain1.0000
12:26956542:GT:Gacceptor_gain1.0000
12:26956542:GTA:Gacceptor_gain1.0000
12:26956542:GTAT:Gacceptor_gain1.0000
12:26956656:CAAAG:Cdonor_gain1.0000
12:26956657:AAAG:Adonor_gain1.0000
12:26956658:AAG:Adonor_gain1.0000
12:26956658:AAGGT:Adonor_loss1.0000
12:26956659:AG:Adonor_gain1.0000
12:26956659:AGG:Adonor_loss1.0000
12:26956660:GG:Gdonor_gain1.0000
12:26956661:G:GAdonor_loss1.0000
12:26956661:G:GGdonor_gain1.0000
12:26957599:A:AGacceptor_gain1.0000

AlphaMissense

1688 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
12:26957643:T:CL99P1.000
12:26954192:G:CA12P0.999
12:26954193:C:AA12D0.999
12:26954202:T:CL15P0.999
12:26954244:T:CL29P0.999
12:26957604:T:CL86S0.999
12:26957616:T:CL90P0.999
12:26957646:T:AI100K0.999
12:26957650:G:AM101I0.999
12:26957650:G:CM101I0.999
12:26957650:G:TM101I0.999
12:26957661:G:CR105P0.999
12:26963451:T:CL207P0.999
12:26964612:T:CL214S0.999
12:26954214:T:CL19S0.998
12:26954234:G:CA26P0.998
12:26956604:T:AV66D0.998
12:26956643:T:CL79S0.998
12:26956646:A:CQ80P0.998
12:26956654:A:GN83D0.998
12:26957612:T:CS89P0.998
12:26957624:C:GH93D0.998
12:26957625:A:CH93P0.998
12:26957633:G:CA96P0.998
12:26957634:C:AA96D0.998
12:26957646:T:GI100R0.998
12:26957657:T:GY104D0.998
12:26963396:G:CA189P0.998
12:26964624:T:CL218P0.998
12:26954231:G:CA25P0.997

dbSNP variants (sampled 300 via entrez): RS1000159073 (12:26950336 C>A), RS1000167621 (12:26943192 T>C), RS1000199733 (12:26943463 A>G), RS1000307069 (12:26956747 T>C), RS1000371226 (12:26944987 A>G), RS1000461919 (12:26950477 C>G,T), RS1000539427 (12:26961330 A>G,T), RS1000613441 (12:26955559 A>G), RS1000678752 (12:26956966 T>C), RS1000719707 (12:26938296 C>G,T), RS1000897513 (12:26953360 T>C), RS1001253842 (12:26950312 T>C), RS1001418001 (12:26938426 T>C), RS1001501567 (12:26948548 C>G), RS1001538690 (12:26962656 C>T)

Disease associations

OMIM: gene MIM:608858 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

StudyTraitp-value
GCST90002379_99Basophil count7.000000e-12
GCST90002380_105Basophil percentage of white cells1.000000e-14

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0005090basophil count
EFO:0007992basophil percentage of leukocytes

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

42 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Aciddecreases methylation, increases expression, affects expression, decreases expression4
bisphenol Aincreases methylation, decreases reaction, increases abundance, decreases expression, increases expression3
Acetaminophenaffects expression, increases expression2
Cyclosporineincreases expression2
ginger extractdecreases reaction, increases abundance, increases expression1
dicrotophosdecreases expression1
triphenyl phosphateaffects expression1
trichostatin Aaffects expression1
methylparabenincreases expression1
tris(1,3-dichloro-2-propyl)phosphateincreases expression1
sodium arseniteincreases expression1
perfluorooctanoic acidincreases expression1
di-n-butylphosphoric acidaffects expression1
perfluorooctane sulfonic acidincreases expression1
monomethylarsonous acidincreases expression1
perfluorohexanesulfonic aciddecreases expression1
ICG 001decreases expression1
NSC 689534affects binding, increases expression1
Bortezomibincreases expression1
Resveratrolaffects cotreatment, increases expression1
Sunitinibincreases expression1
Arsenic Trioxideincreases expression1
Vorinostatincreases expression1
Amiodaroneincreases expression1
Arsenicaffects methylation1
Benzo(a)pyrenedecreases methylation1
Copperaffects binding, increases expression1
Hydrogen Peroxidedecreases expression1
Leadaffects splicing1
Methyl Methanesulfonatedecreases expression1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_0374KG-1Cancer cell lineMale
CVCL_1824KG-1aCancer cell lineMale
CVCL_5301KMT-2Cancer cell lineMale

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.