FGFR2 - fibroblast growth factor receptor 2 Gene
Also Known as BEK; JWS; BBDS; CEK3; CFD1; ECT1; KGFR; TK14; TK25; BFR-1; CD332; K-SAM
Species: Homo sapiens
About FGFR2
This gene has 41 transcripts (splice variants), 219 orthologues, 53 paralogues and is associated with 159 phenotypes. Broad expression in skin (RPKM 22.1), thyroid (RPKM 14.8) and 20 other tissues.
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]
FGFR2 Products (33)
| mRNA | Protein | Name |
|---|---|---|
| XM_024447890.2 | XP_024303658.1 | fibroblast growth factor receptor 2 isoform X5 |
| NM_023031.1 | ||
| XM_024447889.2 | XP_024303657.1 | fibroblast growth factor receptor 2 isoform X8 |
| XM_024447891.2 | XP_024303659.1 | fibroblast growth factor receptor 2 isoform X9 |
| NM_022976.1 | ||
| XM_017015921.3 | XP_016871410.1 | fibroblast growth factor receptor 2 isoform X4 |
| NM_001320654.2 | NP_001307583.1 | fibroblast growth factor receptor 2 isoform 15 |
| XM_024447888.2 | XP_024303656.1 | fibroblast growth factor receptor 2 isoform X7 |
| NM_001144917.2 | NP_001138389.1 | fibroblast growth factor receptor 2 isoform 7 precursor |
| NM_001144916.2 | NP_001138388.1 | fibroblast growth factor receptor 2 isoform 6 precursor |
| NM_001144914.1 | NP_001138386.1 | fibroblast growth factor receptor 2 isoform 4 precursor |
| XM_017015924.3 | XP_016871413.1 | fibroblast growth factor receptor 2 isoform X10 |
| NM_022971.1 | ||
| XM_006717710.5 | XP_006717773.1 | fibroblast growth factor receptor 2 isoform X2 |
| NM_022972.1 | ||
| NM_022975.2 | ||
| NR_073009.2 | ||
| NM_023030.1 | ||
| NM_001144918.2 | NP_001138390.1 | fibroblast growth factor receptor 2 isoform 8 precursor |
| NM_022974.1 | ||
| NM_023028.1 | ||
| NM_001144915.2 | NP_001138387.1 | fibroblast growth factor receptor 2 isoform 5 precursor |
| XM_024447887.2 | XP_024303655.1 | fibroblast growth factor receptor 2 isoform X6 |
| NM_022973.1 | ||
| NM_000141.5 | NP_000132.3 | fibroblast growth factor receptor 2 isoform 1 precursor |
| NM_001320658.2 | NP_001307587.1 | fibroblast growth factor receptor 2 isoform 16 precursor |
| NM_023029.2 | NP_075418.1 | fibroblast growth factor receptor 2 isoform 11 precursor |
| XM_006717708.4 | XP_006717771.1 | fibroblast growth factor receptor 2 isoform X1 |
| NM_022970.3 | NP_075259.4 | fibroblast growth factor receptor 2 isoform 2 precursor |
| NM_001144913.1 | NP_001138385.1 | fibroblast growth factor receptor 2 isoform 3 precursor |
| XM_017015925.3 | XP_016871414.1 | fibroblast growth factor receptor 2 isoform X11 |
| XM_017015920.3 | XP_016871409.1 | fibroblast growth factor receptor 2 isoform X3 |
| NM_001144919.2 | NP_001138391.1 | fibroblast growth factor receptor 2 isoform 9 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables fibroblast growth factor binding |
IDA
IDA: Inferred from direct assay
|
8663044 | GOA |
| enables fibroblast growth factor binding |
IPI
IPI: Inferred from physical interaction
|
8386828 | GOA |
| enables fibroblast growth factor receptor activity |
IDA
IDA: Inferred from direct assay
|
8663044 | GOA |
| enables fibroblast growth factor receptor activity |
IGI
IGI: Inferred from genetic interaction
|
10830168 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
9700203 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
1309608 | GOA |
| enables protein homodimerization activity |
IPI
IPI: Inferred from physical interaction
|
16844695 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cell cortex |
IDA
IDA: Inferred from direct assay
|
17471512 | GOA |
| located in cell surface |
IDA
IDA: Inferred from direct assay
|
16597614 | GOA |
| colocalizes with collagen-containing extracellular matrix |
IDA
IDA: Inferred from direct assay
|
17959718 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
16597614 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
16597614 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
15629145 | GOA |
FGFR2 Protein Structure
Ig_2: Immunoglobulin domain (43 - 115)
I-set: Immunoglobulin I-set domain (172 - 248)
I-set: Immunoglobulin I-set domain (264 - 359)
Pkinase_Tyr: Protein tyrosine kinase (481 - 757)
- 0
- 200
- 400
- 600
- 821 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
fibroblast growth factor receptor 2 |
|
|
FGFR2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
FGFR2 | P21802 | FGFR1 | Homo sapiens | P11362 | 35384245 | |
|
Intra
|
FGFR2 | P21802 | FGFR1 | Homo sapiens | P11362 | 33961781 | |
|
Intra
|
FGFR2 | P21802 | FGFR1 | Homo sapiens | P11362 | 35384245 | |
|
Intra
|
FGFR2 | P21802 | FGF2 | Homo sapiens | P09038-2 | 26267536 | |
|
Intra
|
FGFR2 | P21802 | GRB2 | Homo sapiens | P62993 | 22726438 | |
|
Intra
|
FGFR2 | P21802 | GRB2 | Homo sapiens | P62993 | 35384245 | |
|
Intra
|
FGFR2 | P21802 | P05230-PRO_0000008908 | Homo sapiens | P05230-PRO_0000008908 | 23597563 | |
|
Intra
|
FGFR2 | P21802 | FGF1 | Homo sapiens | P05230 | 10618369 | |
|
Intra
|
FGFR2 | P21802 | FGF2 | Homo sapiens | P09038 | 35384245 | |
|
Intra
|
FGFR2 | P21802 | FGF2 | Homo sapiens | P09038 | 10830168 | |
|
Intra
|
FGFR2 | P21802 | FGF2 | Homo sapiens | P09038 | 11390973 | |
|
Intra
|
FGFR2 | P21802 | FGF2 | Homo sapiens | P09038 | 33961781 |
Recombinant FGFR2 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P72645 | FGFR-2 alpha (IIIc) Protein, Human (HEK293, Fc) | P21802-1 (R22-E377) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P72646 | FGFR-2 beta (IIIb) Protein, Human (HEK293, His) | P21802-3 (R152-E378) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P72647 | FGFR-2 beta (IIIc) Protein, Human (HEK293, Fc) | P21802-1 (R152-E377) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P76333 | FGFR-2 Protein, Human (Active, sf9, His-GST) | P21802-1 (M400-T821) | ≥ 90%, as determined by reducing SDS-PAGE. |
| HY-P76334 | FGFR-2 alpha (IIIb) Protein, Human (HEK293, Fc) | P21802-3 (R22-E378) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P76335 | FGFR-2 beta (IIIc) Protein, Human (267a.a, HEK293, His) | NP_001138387 (R22-E288) | ≥ 90%, as determined by reducing SDS-PAGE. |
| HY-P76336 | FGFR-2 alpha (IIIb) Protein, Human (HEK293, His) | P21802-3 (R22-E378) | ≥ 95%, as determined by reducing Bis-Tris PAGE. |
| HY-P76337 | FGFR-2 alpha (IIIc) Protein, Human (HEK293, His) | P21802-1 (R22-E377) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P76338 | FGFR-2 alpha (IIIc) Protein, Human (HEK293, His-Fc) | P21802-1 (R22-E377) | ≥ 90%, as determined by reducing SDS-PAGE. |
| HY-P78125 | FGFR-2 alpha (IIIb) Protein, Human (Biotinylated, HEK293, His-Avi) | P21802-3 (R22-E378) | ≥ 95%, as determined by Bis-Tris PAGE. |
| HY-P78129 | FGFR-2 beta (IIIb) Protein, Human (Biotinylated, HEK293, His-Avi) | P21802-3 (R152-E378) | ≥ 95%, as determined by Bis-Tris PAGE. |
| HY-P78130 | FGFR-2 beta (IIIc) Protein, Human (Biotinylated, HEK293, His-Avi) | P21802-1 (R152-E377) | ≥ 95%, as determined by Bis-Tris PAGE. |
| HY-P78131 | FGFR-2 alpha (IIIc) Protein, Human (Biotinylated, HEK293, His-Avi) | P21802-1 (R22-E377) | ≥ 95%, as determined by Bis-Tris PAGE. |
FGFR2 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P80397 | FGFR2 Antibody (YA439) | WB, IP | Human |
| HY-P80398 | FGFR2 Antibody (YA764) | WB, ICC/IF, IHC-P | Human, Mouse |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Beare-Stevenson Cutis Gyrata Syndrome |
|
|
| Gastrointestinal Stromal Tumor |
|
|
| Cervical Keratinizing Squamous Cell Carcinoma |
|
|
| Bone Development Disease |
|
|
| Hypertelorism |
|
|
| Esophageal Cancer |
|
|
| Pfeiffer Syndrome |
|
|
| Skin Disease |
|
|
| Endometrial Adenocarcinoma |
|
|
| Hypospadias |
|
|
| Chronic Inflammation Of Lacrimal Passage |
|
|
| Osteoporosis |
|
|
| Hypochondroplasia |
|
|
| Hemifacial Hyperplasia |
|
|
| Disorder Of Sexual Development |
|
|
| Exophthalmos |
|
|
| Isolated Growth Hormone Deficiency, Type Ia |
|
|
| Nevus, Epidermal |
|
|
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
|
| Acanthoma |
|
|
| Bone Disease |
|
|
| Non-Syndromic Unicoronal Craniosynostosis |
|
|
| Chromosome 2q35 Duplication Syndrome |
|
|
| Thanatophoric Dysplasia, Type I |
|
|
| Rasopathy |
|
|
| Aural Atresia, Congenital |
|
|
| Syringomyelia |
|
|
| Pigmentation Disease |
|
|
| Ankylosis |
|
|
| Polydactyly |
|
|
| Familial Scaphocephaly Syndrome |
|
|
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
|
| Prostate Cancer |
|
|
| Gallbladder Disease |
|
|
| Intrahepatic Cholangiocarcinoma |
|
|
| Uterine Carcinosarcoma |
|
|
| Exposure Keratitis |
|
|
| Bladder Cancer |
|
|
| Bile Duct Cancer |
|
|
| Apert Syndrome |
|
|
| Jackson-Weiss Syndrome |
|
|
| Scoliosis |
|
|
| Pancreatic Cancer |
|
|
| Ovarian Cancer |
|
|
| Gastroesophageal Adenocarcinoma |
|
|
| Gastroesophageal Junction Adenocarcinoma |
|
|
| Peters-Plus Syndrome |
|
|
| Colorectal Cancer |
|
|
| Renal Hypodysplasia/Aplasia 1 |
|
|
| Chromosomal Duplication Syndrome |
|
|
| Testicular Spermatocytic Seminoma |
|
|
| Adult Teratoma |
|
|
| Split-Hand/Foot Malformation 1 |
|
|
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
|
| Antley-Bixler Syndrome |
|
|
| Glioblastoma |
|
|
| Glioma |
|
|
| Adenocarcinoma |
|
|
| Radioulnar Synostosis |
|
|
| Bile Duct Adenocarcinoma |
|
|
| Gastric Adenocarcinoma |
|
|
| Ectodermal Dysplasia |
|
|
| Endometrial Cancer |
|
|
| Breast Cancer |
|
|
| Mucinous Cystadenofibroma |
|
|
| Strabismus |
|
|
| Carpenter Syndrome 1 |
|
|
| Cleidocranial Dysplasia |
|
|
| Lacrimoauriculodentodigital Syndrome |
|
|
| Cholangiocarcinoma |
|
|
| Acanthosis Nigricans |
|
|
| Retinitis Pigmentosa |
|
|
| Hepatocellular Clear Cell Carcinoma |
|
|
| Cleft Lip |
|
|
| Orofacial Cleft |
|
|
| Gastric Cancer |
|
|
| Bent Bone Dysplasia Syndrome |
|
|
| Syndromic Craniosynostosis |
|
|
| Scaphocephaly, Maxillary Retrusion, And Mental Retardation |
|
|
| Cleft Palate, Isolated |
|
|
| Dysostosis |
|
|
| Vesicoureteral Reflux |
|
|
| Synostosis |
|
|
| Porokeratosis |
|
|
| Saethre-Chotzen Syndrome |
|
|
| Holoprosencephaly |
|
|
| Squamous Cell Carcinoma |
|
|
| Craniosynostosis |
|
|
| Kallmann Syndrome |
|
|
| Calcinosis |
|
|
| Klatskin'S Tumor |
|
|
| Crouzon Syndrome |
|
|
| Dacryocystocele |
|
|
| Achondroplasia |
|
|
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
|
| Tooth Agenesis |
|
|
| Uterine Corpus Endometrial Carcinoma |
|
|
| Hydrocephalus |
|
|
| Lung Cancer Susceptibility 3 |
|
|
| Teratocarcinoma |
|
|
| Renal Cell Carcinoma, Nonpapillary |
|
|
| Crouzon Syndrome With Acanthosis Nigricans |
|
|
| Plagiocephaly |
|
|
| Osteoglophonic Dysplasia |
|
|
| Antley-Bixler Syndrome Without Genital Anomaly Or Disorder Of Steroidogenesis |
|
|
| Hypophosphatemia |
|
|
| Aplasia Of Lacrimal And Salivary Glands |
|
|
| Meningioma, Familial |
|
|
| Gallbladder Cancer |
|
|
| Exotropia |
|
|
| Lung Squamous Cell Carcinoma |
|
|
| Luteoma |
|
|
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
|
| Humeroradial Synostosis |
|
|
| Craniofrontonasal Syndrome |
|
|
| Lung Cancer |
|
|
| Osteochondrodysplasia |
|
|
| Dysgerminoma |
|
|
| Muenke Syndrome |
|
|
| Cholesteatoma Of Middle Ear |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | FGFR2 | MGD | MGI:95523 |
| Macaca mulatta | FGFR2 | VGNC | VGNC:72652 |
| Bos taurus | FGFR2 | VGNC | VGNC:28987 |
| Rattus norvegicus | FGFR2 | RGD | RGD:2611 |
| Canis familiaris | FGFR2 | VGNC | VGNC:40859 |
| Felis catus | FGFR2 | VGNC | VGNC:82478 |
| Others | FGFR2 | NCBI |