Gene
fgfr2
- ID
- ZDB-GENE-030323-1
- Name
- fibroblast growth factor receptor 2
- Symbol
- fgfr2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Enables fibroblast growth factor binding activity. Acts upstream of or within several processes, including cell proliferation in midbrain; determination of left/right symmetry; and pectoral fin development. Predicted to be located in Golgi apparatus; cytoplasmic vesicle; and membrane. Predicted to be part of receptor complex. Predicted to be active in plasma membrane. Is expressed in several structures, including cranium; digestive system; mesoderm; nervous system; and trunk vasculature. Human ortholog(s) of this gene implicated in several diseases, including Beare-Stevenson cutis gyrata syndrome; breast cancer (multiple); gastrointestinal system cancer (multiple); reproductive organ cancer (multiple); and synostosis (multiple). Orthologous to human FGFR2 (fibroblast growth factor receptor 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 62 figures from 38 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cssl:d0138 (23 images)
Wild Type Expression Summary
- All Phenotype Data
- 16 figures from 7 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hu2897 | Allele with one point mutation | Unknown | Unknown | ENU | |
| hu2987 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| la012423Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la018672Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa10729 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa24945 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa30975 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa35586 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa42295 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa42296 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-fgfr2 | (2) | |
| CRISPR2-fgfr2 | Leerberg et al., 2019 | |
| CRISPR3-fgfr2 | Chen et al., 2020 | |
| CRISPR4-fgfr2 | Chen et al., 2020 | |
| MO1-fgfr2 | N/A | (3) |
| MO2-fgfr2 | N/A | Nakayama et al., 2008 |
| MO3-fgfr2 | N/A | Liu et al., 2011 |
| MO4-fgfr2 | N/A | (2) |
| MO5-fgfr2 | N/A | (2) |
| MO6-fgfr2 | N/A | (2) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| acrocephalosyndactylia | Alliance | Apert syndrome | 101200 |
| Antley-Bixler syndrome without disordered steroidogenesis | Alliance | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | 207410 |
| Beare-Stevenson cutis gyrata syndrome | Alliance | Beare-Stevenson cutis gyrata syndrome | 123790 |
| bent bone dysplasia syndrome 1 | Alliance | Bent bone dysplasia syndrome | 614592 |
| Crouzon syndrome | Alliance | Crouzon syndrome | 123500 |
| Jackson-Weiss syndrome | Alliance | Jackson-Weiss syndrome | 123150 |
| lacrimoauriculodentodigital syndrome 1 | Alliance | LADD syndrome 1 | 149730 |
| Pfeiffer syndrome | Alliance | Craniofacial-skeletal-dermatologic dysplasia | 101600 |
| Pfeiffer syndrome | Alliance | Pfeiffer syndrome | 101600 |
| pre-eclampsia | Alliance | Bent bone dysplasia syndrome | 614592 |
| Saethre-Chotzen syndrome | Alliance | Saethre-Chotzen syndrome | 101400 |
| stomach cancer | Alliance | Gastric cancer, somatic | 613659 |
| Craniosynostosis, nonspecific | |||
| Scaphocephaly and Axenfeld-Rieger anomaly | |||
| ?Scaphocephaly, maxillary retrusion, and impaired intellectual development | 609579 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR008266 | Tyrosine-protein kinase, active site |
| Binding_site | IPR017441 | Protein kinase, ATP binding site |
| Domain | IPR000719 | Protein kinase domain |
| Domain | IPR001245 | Serine-threonine/tyrosine-protein kinase, catalytic domain |
| Domain | IPR003598 | Immunoglobulin subtype 2 |
| Domain | IPR003599 | Immunoglobulin domain subtype |
| Domain | IPR007110 | Immunoglobulin-like domain |
| Domain | IPR013098 | Immunoglobulin I-set |
| Domain | IPR020635 | Tyrosine-protein kinase, catalytic domain |
| Family | IPR016248 | Fibroblast growth factor receptor family |
| Family | IPR050122 | Receptor Tyrosine Kinase |
| Homologous_superfamily | IPR011009 | Protein kinase-like domain superfamily |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR036179 | Immunoglobulin-like domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Fibroblast growth factor receptor family | Immunoglobulin domain subtype | Immunoglobulin I-set | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype 2 | Protein kinase, ATP binding site | Protein kinase domain | Protein kinase-like domain superfamily | Receptor Tyrosine Kinase | Serine-threonine/tyrosine-protein kinase, catalytic domain | Tyrosine-protein kinase, active site | Tyrosine-protein kinase, catalytic domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M2BGU2 | InterPro | 836 | ||||||||||||||
| UniProtKB:F1RBS5 | InterPro | 815 | ||||||||||||||
| UniProtKB:A4QN31 | InterPro | 728 | ||||||||||||||
| UniProtKB:A0A8M1NYP8 | InterPro | 817 | ||||||||||||||
| UniProtKB:Q8JG38 | InterPro | 817 | ||||||||||||||
| UniProtKB:F1RBT3 | InterPro | 815 | ||||||||||||||
| UniProtKB:A0AB32TZN5 | InterPro | 840 | ||||||||||||||
| UniProtKB:A0AB32U1A3 | InterPro | 726 | ||||||||||||||
| UniProtKB:A0AB32U1P5 | InterPro | 838 | ||||||||||||||
| UniProtKB:A0AB32U4Z2 | InterPro | 751 |
Interactions and Pathways
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-216N19 | ZFIN Curated Data | |
| Contained in | BAC | CH73-304G8 | ZFIN Curated Data | |
| Contained in | Fosmid | CH1073-215E5 | ZFIN Curated Data | |
| Encodes | EST | cssl:d0138 | Thisse et al., 2008 | |
| Encodes | EST | fc56c05 | ||
| Encodes | cDNA | MGC:158199 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001243004 (1) | 5326 nt | ||
| Genomic | GenBank:CU862017 (2) | 96381 nt | ||
| Polypeptide | UniProtKB:A0AB32TZN5 (1) | 840 aa |
- Cudak, N., López-Delgado, A.C., Keil, S., Knopf, F. (2023) Fibroblast growth factor pathway component expression in the regenerating zebrafish fin. Gene expression patterns : GEP. 48:119307
- Miyake, A., Ohmori, T., Murakawa, Y. (2023) Fgf22 and Fgfr2b are required for neurogenesis and gliogenesis in the zebrafish forebrain. Biochemical and Biophysical Research Communications. 681:212217212-217
- Niu, X., Zhang, F., Ping, L., Wang, Y., Zhang, B., Wang, J., Chen, X. (2023) vwa1 Knockout in Zebrafish Causes Abnormal Craniofacial Chondrogenesis by Regulating FGF Pathway. Genes. 14(4):
- Raterman, S.T., Von Den Hoff, J.W., Dijkstra, S., De Vriend, C., Te Morsche, T., Broekman, S., Zethof, J., De Vrieze, E., Wagener, F.A.D.T.G., Metz, J.R. (2023) Disruption of the foxe1 gene in zebrafish reveals conserved functions in development of the craniofacial skeleton and the thyroid. Frontiers in cell and developmental biology. 11:11438441143844
- Shi, T., Beaulieu, M.O., Saunders, L.M., Fabian, P., Trapnell, C., Segil, N., Crump, J.G., Raible, D.W. (2023) Single-cell transcriptomic profiling of the zebrafish inner ear reveals molecularly distinct hair cell and supporting cell subtypes. eLIFE. 12:
- Zhou, L., Zhang, W., Xiang, Y., Qian, Z., Zhou, J., Ni, L., Feng, Y., Gao, B. (2023) The apatinib and pemetrexed combination has antitumor and antiangiogenic effects against NSCLC. Open life sciences. 18:2022053320220533
- Gebuijs, L., Wagener, F.A., Zethof, J., Carels, C.E., Von den Hoff, J.W., Metz, J.R. (2022) Targeting fibroblast growth factor receptors causes severe craniofacial malformations in zebrafish larvae. PeerJ. 10:e14338e14338
- Paudel, S., Gjorcheska, S., Bump, P., Barske, L. (2022) Patterning of cartilaginous condensations in the developing facial skeleton. Developmental Biology. 486:44-55
- Rayrikar, A.Y., Wagh, G.A., Santra, M., Patra, C. (2022) Ccn2a-FGFR1-SHH signaling is necessary for intervertebral disc homeostasis and regeneration in adult zebrafish. Development (Cambridge, England). 150(1):
- Wohlfart, D.P., Lou, B., Middel, C.S., Morgenstern, J., Fleming, T., Sticht, C., Hausser, I., Hell, R., Hammes, H.P., Szendrödi, J., Nawroth, P.P., Kroll, J. (2022) Accumulation of acetaldehyde in aldh2.1-/- zebrafish causes increased retinal angiogenesis and impaired glucose metabolism. Redox Biology. 50:102249
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