Details for: FGFR2

Gene ID: 2263

Symbol: FGFR2

Ensembl ID: ENSG00000066468

Description: fibroblast growth factor receptor 2

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 5.91
    Marker Score: 24648
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 4.31
    Marker Score: 5796
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 3.86
    Marker Score: 4672
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 3.37
    Marker Score: 7407.5
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 2.97
    Marker Score: 12434.5
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 2.85
    Marker Score: 832
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 2.8
    Marker Score: 6703
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 2.79
    Marker Score: 1634
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 2.77
    Marker Score: 1616
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.71
    Marker Score: 57857
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 2.71
    Marker Score: 2340
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 2.69
    Marker Score: 3044
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 2.62
    Marker Score: 828
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 2.57
    Marker Score: 1268
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 2.36
    Marker Score: 1636
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 2.19
    Marker Score: 1943
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 2.15
    Marker Score: 1413
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 2.03
    Marker Score: 586
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.73
    Marker Score: 1916
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.73
    Marker Score: 3277
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 1.68
    Marker Score: 735
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.61
    Marker Score: 1670.5
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.52
    Marker Score: 4980
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.47
    Marker Score: 3454
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.46
    Marker Score: 167886
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 1.43
    Marker Score: 787
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.38
    Marker Score: 24486
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.37
    Marker Score: 50440
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.37
    Marker Score: 1473
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.37
    Marker Score: 866
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 1.36
    Marker Score: 790
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 1.27
    Marker Score: 982
  • Cell Name: basal cell (CL0000646)
    Fold Change: 1.23
    Marker Score: 1582
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 1.2
    Marker Score: 448
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.19
    Marker Score: 344
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.18
    Marker Score: 2697
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.18
    Marker Score: 446
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.17
    Marker Score: 1016
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.15
    Marker Score: 392.5
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.14
    Marker Score: 2318
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 1.12
    Marker Score: 406
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 1.11
    Marker Score: 283.5
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 1.1
    Marker Score: 736
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.09
    Marker Score: 17457
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.07
    Marker Score: 2519
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251768.5
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.04
    Marker Score: 792
  • Cell Name: club cell (CL0000158)
    Fold Change: 1.02
    Marker Score: 1185
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 1
    Marker Score: 1207
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 1
    Marker Score: 560
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71788
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48013
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.99
    Marker Score: 15417
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 507
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30406
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.98
    Marker Score: 446
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 460
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.97
    Marker Score: 793
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.95
    Marker Score: 1000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2410
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.94
    Marker Score: 297
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.93
    Marker Score: 492
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.93
    Marker Score: 12237
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.92
    Marker Score: 1296
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2733
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 326
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.9
    Marker Score: 1641
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5295
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.87
    Marker Score: 5664
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.87
    Marker Score: 4941.5
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.86
    Marker Score: 875
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.86
    Marker Score: 174
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.84
    Marker Score: 336.5
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.83
    Marker Score: 501
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.83
    Marker Score: 387
  • Cell Name: smooth muscle cell of large intestine (CL1000279)
    Fold Change: 0.82
    Marker Score: 309
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.81
    Marker Score: 187.5
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.81
    Marker Score: 2181
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.81
    Marker Score: 1473
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 0.79
    Marker Score: 202
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.79
    Marker Score: 389
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 0.79
    Marker Score: 753
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.78
    Marker Score: 318
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1269
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.78
    Marker Score: 5815
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 396
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.76
    Marker Score: 1909
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.74
    Marker Score: 233
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.74
    Marker Score: 675
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.72
    Marker Score: 294
  • Cell Name: bronchial epithelial cell (CL0002328)
    Fold Change: 0.72
    Marker Score: 191
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.71
    Marker Score: 2634
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.71
    Marker Score: 181
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7
    Marker Score: 2934
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.69
    Marker Score: 26036
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.67
    Marker Score: 443
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 0.67
    Marker Score: 212
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.66
    Marker Score: 531
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 0.65
    Marker Score: 1046
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.65
    Marker Score: 1470

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Other Information

**Key characteristics:** - FGFR2 is a transmembrane receptor that is composed of a single extracellular domain and a single transmembrane domain. - It is a member of the FGFR family of cell surface receptors that are known to be involved in growth factor signaling. - FGFR2 is expressed in high levels in many types of cancer cells. - It is known to interact with the EGFR signaling pathway. **Pathways and functions:** - FGFR2 is a key regulator of cell growth and proliferation. - It is involved in the regulation of epithelial cell growth and differentiation. - It is also involved in the development and maintenance of the eye. - FGFR2 is a potential target for cancer therapy. **Clinical significance:** - Mutations in FGFR2 have been linked to a number of human cancers, including breast cancer, lung cancer, and colon cancer. - Targeting FGFR2 with antibodies or small molecules is a promising strategy for the treatment of cancer. - FGFR2 is a promising target for the treatment of diabetic retinopathy, a leading cause of blindness in the United States. **Additional notes:** - FGFR2 is a highly conserved protein, with a similar protein found in other mammals. - It is a key regulator of cell growth and survival. - It is a potential target for the treatment of cancer and other diseases.

Genular Protein ID: 402669804

Symbol: FGFR2_HUMAN

Name: Fibroblast growth factor receptor 2

UniProtKB Accession Codes:

P21802 B4DFC2 E7EVR6 E9PCR0 P18443 Q01742 Q12922 Q14300 Q14301 Q14302 Q14303 Q14304 Q14305 Q14672 Q14718 Q14719 Q1KHY5 Q86YI4 Q8IXC7 Q96KL9 Q96KM0 Q96KM1 Q96KM2 Q9NZU2 Q9NZU3 Q9UD01 Q9UD02 Q9UIH3 Q9UIH4 Q9UIH5 Q9UIH6 Q9UIH7 Q9UIH8 Q9UM87 Q9UMC6 Q9UNS7 Q9UQH7 Q9UQH8 Q9UQH9 Q9UQI0

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 9 CDD 4 CORUM 1 CPTAC 1 CTD 1 ChEBI 9 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 18 DrugCentral 1 EC 1 EMBL 73 EPD 1 Ensembl 13 EvolutionaryTrace 1 ExpressionAtlas 1 GO 100 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 IDEAL 1 InParanoid 1 IntAct 1 InterPro 13 KEGG 1 MANE-Select 1 MIM 21 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 12 OrthoDB 1 PANTHER 2 PDB 64 PDBsum 49 PIR 5 PIRSF 1 PRINTS 1 PRO 1 PROSITE 4 PROSITE-ProRule 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 17 RNAct 1 Reactome 17 RefSeq 12 Rhea 3 SIGNOR 1 SMART 3 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1697263

Title: Cloning and expression of two distinct high-affinity receptors cross-reacting with acidic and basic fibroblast growth factors.

PubMed ID: 1697263

DOI: 10.1002/j.1460-2075.1990.tb07454.x

PubMed ID: 2172978

Title: Related fibroblast growth factor receptor genes exist in the human genome.

PubMed ID: 2172978

DOI: 10.1073/pnas.87.20.8180

PubMed ID: 1647213

Title: Two cDNAs encoding novel human FGF receptor.

PubMed ID: 1647213

DOI: 10.1016/0167-4781(91)90015-e

PubMed ID: 2377625

Title: K-sam, an amplified gene in stomach cancer, is a member of the heparin-binding growth factor receptor genes.

PubMed ID: 2377625

DOI: 10.1073/pnas.87.15.5983

PubMed ID: 1313574

Title: K-sam gene encodes secreted as well as transmembrane receptor tyrosine kinase.

PubMed ID: 1313574

DOI: 10.1073/pnas.89.7.2960

PubMed ID: 1400433

Title: A novel form of fibroblast growth factor receptor 2. Alternative splicing of the third immunoglobulin-like domain confers ligand binding specificity.

PubMed ID: 1400433

DOI: 10.1016/s0021-9258(19)36821-8

PubMed ID: 1309608

Title: Determination of ligand-binding specificity by alternative splicing: two distinct growth factor receptors encoded by a single gene.

PubMed ID: 1309608

DOI: 10.1073/pnas.89.1.246

PubMed ID: 7866434

Title: Hepatocyte growth factor (HGF), keratinocyte growth factor (KGF), and their receptors in human breast cells and tissues: alternative receptors.

PubMed ID: 7866434

PubMed ID: 10626794

Title: Deletion of the carboxyl-terminal exons of K-sam/FGFR2 by short homology-mediated recombination, generating preferential expression of specific messenger RNAs.

PubMed ID: 10626794

PubMed ID: 11856867

Title: Fibroblast growth factor receptor 2 (FGFR2): genomic sequence and variations.

PubMed ID: 11856867

DOI: 10.1159/000048802

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10712195

Title: Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.

PubMed ID: 10712195

DOI: 10.1086/302831

PubMed ID: 10196476

Title: Genomic organization of the human fibroblast growth factor receptor 2 (FGFR2) gene and comparative analysis of the human FGFR gene family.

PubMed ID: 10196476

DOI: 10.1016/s0378-1119(99)00047-5

PubMed ID: 7668257

Title: Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.

PubMed ID: 7668257

PubMed ID: 8676562

Title: Nucleotide sequences at intron 6 and exon 7 junction of fibroblast growth factor receptor 2 and rapid mutational analysis in Apert syndrome.

PubMed ID: 8676562

PubMed ID: 8673103

Title: Exclusive paternal origin of new mutations in Apert syndrome.

PubMed ID: 8673103

DOI: 10.1038/ng0596-48

PubMed ID: 7581378

Title: Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.

PubMed ID: 7581378

DOI: 10.1093/hmg/4.8.1387

PubMed ID: 8961926

Title: Asparagine-344 is a key residue for ligand binding in keratinocyte growth factor receptor.

PubMed ID: 8961926

DOI: 10.1021/bi961942c

PubMed ID: 8663044

Title: Receptor specificity of the fibroblast growth factor family.

PubMed ID: 8663044

DOI: 10.1074/jbc.271.25.15292

PubMed ID: 9585583

Title: Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

PubMed ID: 9585583

DOI: 10.1086/301855

PubMed ID: 12529371

Title: p21-activated protein kinase 4 (PAK4) interacts with the keratinocyte growth factor receptor and participates in keratinocyte growth factor-mediated inhibition of oxidant-induced cell death.

PubMed ID: 12529371

DOI: 10.1074/jbc.m205875200

PubMed ID: 15190072

Title: Cbl-mediated degradation of Lyn and Fyn induced by constitutive fibroblast growth factor receptor-2 activation supports osteoblast differentiation.

PubMed ID: 15190072

DOI: 10.1074/jbc.m402469200

PubMed ID: 15629145

Title: Tyrosine 769 of the keratinocyte growth factor receptor is required for receptor signaling but not endocytosis.

PubMed ID: 15629145

DOI: 10.1016/j.bbrc.2004.12.031

PubMed ID: 16597617

Title: Receptor specificity of the fibroblast growth factor family. The complete mammalian FGF family.

PubMed ID: 16597617

DOI: 10.1074/jbc.m601252200

PubMed ID: 16844695

Title: Intracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F.

PubMed ID: 16844695

DOI: 10.1074/jbc.m600448200

PubMed ID: 17623664

Title: Tissue-specific expression of betaKlotho and fibroblast growth factor (FGF) receptor isoforms determines metabolic activity of FGF19 and FGF21.

PubMed ID: 17623664

DOI: 10.1074/jbc.m704165200

PubMed ID: 17311277

Title: Fibroblast growth factor receptor-induced phosphorylation of STAT1 at the Golgi apparatus without translocation to the nucleus.

PubMed ID: 17311277

DOI: 10.1002/jcp.21014

PubMed ID: 18374639

Title: FGFR2-Cbl interaction in lipid rafts triggers attenuation of PI3K/Akt signaling and osteoblast survival.

PubMed ID: 18374639

DOI: 10.1016/j.bone.2008.02.009

PubMed ID: 19410646

Title: Novel phosphotyrosine targets of FGFR2IIIb signaling.

PubMed ID: 19410646

DOI: 10.1016/j.cellsig.2009.04.004

PubMed ID: 19103595

Title: Aberrant receptor internalization and enhanced FRS2-dependent signaling contribute to the transforming activity of the fibroblast growth factor receptor 2 IIIb C3 isoform.

PubMed ID: 19103595

DOI: 10.1074/jbc.m803998200

PubMed ID: 19369195

Title: Large-scale proteomics analysis of the human kinome.

PubMed ID: 19369195

DOI: 10.1074/mcp.m800588-mcp200

PubMed ID: 21596750

Title: The Casitas B lineage lymphoma (Cbl) mutant G306E enhances osteogenic differentiation in human mesenchymal stromal cells in part by decreased Cbl-mediated platelet-derived growth factor receptor alpha and fibroblast growth factor receptor 2 ubiquitination.

PubMed ID: 21596750

DOI: 10.1074/jbc.m110.197525

PubMed ID: 15863030

Title: Cellular signaling by fibroblast growth factor receptors.

PubMed ID: 15863030

DOI: 10.1016/j.cytogfr.2005.01.001

PubMed ID: 19387476

Title: FGFR2 abnormalities underlie a spectrum of bone, skin, and cancer pathologies.

PubMed ID: 19387476

DOI: 10.1038/jid.2009.97

PubMed ID: 20094046

Title: Fibroblast growth factor signalling: from development to cancer.

PubMed ID: 20094046

DOI: 10.1038/nrc2780

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 10830168

Title: Crystal structures of two FGF-FGFR complexes reveal the determinants of ligand-receptor specificity.

PubMed ID: 10830168

DOI: 10.1016/s0092-8674(00)80851-x

PubMed ID: 11069186

Title: Crystal structure of fibroblast growth factor receptor ectodomain bound to ligand and heparin.

PubMed ID: 11069186

DOI: 10.1038/35039551

PubMed ID: 10618369

Title: Structural interactions of fibroblast growth factor receptor with its ligands.

PubMed ID: 10618369

DOI: 10.1073/pnas.97.1.49

PubMed ID: 11390973

Title: Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome.

PubMed ID: 11390973

DOI: 10.1073/pnas.121183798

PubMed ID: 12591959

Title: Structural basis by which alternative splicing confers specificity in fibroblast growth factor receptors.

PubMed ID: 12591959

DOI: 10.1073/pnas.0436500100

PubMed ID: 16384934

Title: Structural basis by which alternative splicing modulates the organizer activity of FGF8 in the brain.

PubMed ID: 16384934

DOI: 10.1101/gad.1365406

PubMed ID: 17803937

Title: A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.

PubMed ID: 17803937

DOI: 10.1016/j.molcel.2007.06.028

PubMed ID: 18056630

Title: Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation.

PubMed ID: 18056630

DOI: 10.1073/pnas.0709905104

PubMed ID: 19060208

Title: A crystallographic snapshot of tyrosine trans-phosphorylation in action.

PubMed ID: 19060208

DOI: 10.1073/pnas.0807752105

PubMed ID: 21454610

Title: A novel mode of protein kinase inhibition exploiting hydrophobic motifs of autoinhibited kinases: discovery of ATP-independent inhibitors of fibroblast growth factor receptor.

PubMed ID: 21454610

DOI: 10.1074/jbc.m110.213736

PubMed ID: 7987400

Title: Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

PubMed ID: 7987400

DOI: 10.1038/ng0994-98

PubMed ID: 7874170

Title: Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.

PubMed ID: 7874170

DOI: 10.1038/ng1194-275

PubMed ID: 7655462

Title: Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.

PubMed ID: 7655462

DOI: 10.1093/hmg/4.6.1077

PubMed ID: 8528214

Title: Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.

PubMed ID: 8528214

DOI: 10.1093/hmg/4.7.1229

PubMed ID: 7719333

Title: FGFR2 mutations in Pfeiffer syndrome.

PubMed ID: 7719333

DOI: 10.1038/ng0295-108

PubMed ID: 7719344

Title: Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.

PubMed ID: 7719344

DOI: 10.1038/ng0295-165

PubMed ID: 7719345

Title: Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.

PubMed ID: 7719345

DOI: 10.1038/ng0295-173

PubMed ID: 8644708

Title: FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.

PubMed ID: 8644708

PubMed ID: 8946174

Title: Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.

PubMed ID: 8946174

DOI: 10.1159/000472215

PubMed ID: 8956050

Title: Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene.

PubMed ID: 8956050

DOI: 10.1002/(sici)1098-1004(1996)8:4<386::aid-humu18>3.0.co;2-z

PubMed ID: 8696350

Title: Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.

PubMed ID: 8696350

DOI: 10.1038/ng0896-492

PubMed ID: 9150725

Title: Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome.

PubMed ID: 9150725

DOI: 10.1007/s004390050413

PubMed ID: 9385368

Title: Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.

PubMed ID: 9385368

DOI: 10.1007/s004390050584

PubMed ID: 9002682

Title: Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.

PubMed ID: 9002682

DOI: 10.1093/hmg/6.1.137

PubMed ID: 9152842

Title: A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.

PubMed ID: 9152842

DOI: 10.1136/jmg.34.5.420

PubMed ID: 9677057

Title: Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.

PubMed ID: 9677057

DOI: 10.1002/(sici)1096-8628(19980707)78:3<237::aid-ajmg5>3.3.co;2-5

PubMed ID: 9521581

Title: The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.

PubMed ID: 9521581

DOI: 10.1007/s004390050668

PubMed ID: 9452027

Title: Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with Apert syndrome.

PubMed ID: 9452027

DOI: 10.1002/humu.1380110106

PubMed ID: 9693549

Title: Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene.

PubMed ID: 9693549

DOI: 10.1097/00001665-199805000-00004

PubMed ID: 9719378

Title: Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.

PubMed ID: 9719378

DOI: 10.1136/jmg.35.8.677

PubMed ID: 10574673

Title: A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance.

PubMed ID: 10574673

DOI: 10.1597/1545-1569_1999_036_0533_anfgmi_2.3.co_2

PubMed ID: 10394936

Title: Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.

PubMed ID: 10394936

DOI: 10.1007/s004390050979

PubMed ID: 10945669

Title: Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene.

PubMed ID: 10945669

DOI: 10.1034/j.1399-0004.2000.580116.x

PubMed ID: 11173845

Title: Clustering of FGFR2 gene mutations in patients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).

PubMed ID: 11173845

DOI: 10.1159/000056833

PubMed ID: 10951518

Title: A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis?

PubMed ID: 10951518

DOI: 10.1038/sj.ejhg.5200499

PubMed ID: 10633130

Title: Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

PubMed ID: 10633130

DOI: 10.1136/jmg.37.1.26

PubMed ID: 11380921

Title: Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients.

PubMed ID: 11380921

DOI: 10.1046/j.1442-200x.2001.01392.x

PubMed ID: 11781872

Title: Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

PubMed ID: 11781872

DOI: 10.1086/338758

PubMed ID: 12000365

Title: Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome.

PubMed ID: 12000365

DOI: 10.1034/j.1399-0004.2002.610309.x

PubMed ID: 16061565

Title: Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.

PubMed ID: 16061565

DOI: 10.1136/jmg.2004.027888

PubMed ID: 16501574

Title: Mutations in different components of FGF signaling in LADD syndrome.

PubMed ID: 16501574

DOI: 10.1038/ng1757

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 17344846

Title: Patterns of somatic mutation in human cancer genomes.

PubMed ID: 17344846

DOI: 10.1038/nature05610

PubMed ID: 22387015

Title: Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.

PubMed ID: 22387015

DOI: 10.1016/j.ajhg.2012.02.005

PubMed ID: 26429889

Title: A human laterality disorder caused by a homozygous deleterious mutation in MMP21.

PubMed ID: 26429889

DOI: 10.1136/jmedgenet-2015-103336

Sequence Information:

  • Length: 821
  • Mass: 92025
  • Checksum: 6CD5001C960ED82F
  • Sequence:
    • MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV 
RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF 
MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP 
AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI 
NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK 
YGPDGLPYLK VLKAAGVNTT DKEIEVLYIR NVTFEDAGEY TCLAGNSIGI SFHSAWLTVL 
PAPGREKEIT ASPDYLEIAI YCIGVFLIAC MVVTVILCRM KNTTKKPDFS SQPAVHKLTK 
RIPLRRQVTV SAESSSSMNS NTPLVRITTR LSSTADTPML AGVSEYELPE DPKWEFPRDK 
LTLGKPLGEG CFGQVVMAEA VGIDKDKPKE AVTVAVKMLK DDATEKDLSD LVSEMEMMKM 
IGKHKNIINL LGACTQDGPL YVIVEYASKG NLREYLRARR PPGMEYSYDI NRVPEEQMTF 
KDLVSCTYQL ARGMEYLASQ KCIHRDLAAR NVLVTENNVM KIADFGLARD INNIDYYKKT 
TNGRLPVKWM APEALFDRVY THQSDVWSFG VLMWEIFTLG GSPYPGIPVE ELFKLLKEGH 
RMDKPANCTN ELYMMMRDCW HAVPSQRPTF KQLVEDLDRI LTLTTNEEYL DLSQPLEQYS 
PSYPDTRSSC SSGDDSVFSP DPMPYEPCLP QYPHINGSVK T

Genular Protein ID: 710091828

Symbol: A0A141AXF1_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A141AXF1

Database IDs:

ARBA 20 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChEBI 11 ChiTaRS 1 DNASU 1 EC 1 EMBL 2 ExpressionAtlas 1 GO 5 Gene3D 2 GenomeRNAi 1 InterPro 13 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRNR 1 PIRSF 1 PIRSR 3 PRINTS 1 PROSITE 6 PROSITE-ProRule 1 Pfam 2 RefSeq 1 Rhea 3 SAM 3 SMART 3 SMR 1 SUPFAM 2 VEuPathDB 1

Sequence Information:

  • Length: 680
  • Mass: 76423
  • Checksum: A6FF9BEBABCCE931
  • Sequence:
    • MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEDAIS SGDDEDDTDG AEDFVSENSN 
NKRAPYWTNT EKMEKRLHAV PAANTVKFRC PAGGNPMPTM RWLKNGKEFK QEHRIGGYKV 
RNQHWSLIME SVVPSDKGNY TCVVENEYGS INHTYHLDVV ERSPHRPILQ AGLPANASTV 
VGGDVEFVCK VYSDAQPHIQ WIKHVEKNGS KYGPDGLPYL KVLKHSGINS SNAEVLALFN 
VTEADAGEYI CKVSNYIGQA NQSAWLTVLP KQQAPGREKE ITASPDYLEI AIYCIGVFLI 
ACMVVTVILC RMKNTTKKPD FSSQPAVHKL TKRIPLRRQV TVSAESSSSM NSNTPLVRIT 
TRLSSTADTP MLAGVSEYEL PEDPKWEFPR DKLTLGKPLG EGCFGQVVMA EAVGIDKDKP 
KEAVTVAVKM LKDDATEKDL SDLVSEMEMM KMIGKHKNII NLLGACTQDG PLYVIVEYAS 
KGNLREYLRA RRPPGMEYSY DINRVPEEQM TFKDLVSCTY QLARGMEYLA SQKCIHRDLA 
ARNVLVTENN VMKIADFGLA RDINNIDYYK KTTNGRLPVK WMAPEALFDR VYTHQSDVWS 
FGVLMWEIFT LGGSPYPGIP VEELFKLLKE GHRMDKPANC TNELYMMMRD CWHAVPSQRP 
TFKQLVEDLD RILTLTTNEI

Genular Protein ID: 531009474

Symbol: D2CGD1_HUMAN

Name: N/A

UniProtKB Accession Codes:

D2CGD1

Database IDs:

ARBA 20 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 3 CTD 1 ChEBI 11 ChiTaRS 1 DNASU 1 EC 1 EMBL 4 EPD 1 Ensembl 2 GO 5 Gene3D 2 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 InterPro 13 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRNR 1 PIRSF 1 PIRSR 3 PRINTS 1 PROSITE 6 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 2 Proteomes 2 RefSeq 1 Rhea 3 SAM 3 SMART 3 SUPFAM 2 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 19369195

Title: Large-scale proteomics analysis of the human kinome.

PubMed ID: 19369195

DOI: 10.1074/mcp.M800588-MCP200

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

Sequence Information:

  • Length: 732
  • Mass: 82225
  • Checksum: DC1D018D4F7C4803
  • Sequence:
    • MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEDAIS SGDDEDDTDG AEDFVSENSN 
NKRAPYWTNT EKMEKRLHAV PAANTVKFRC PAGGNPMPTM RWLKNGKEFK QEHRIGGYKV 
RNQHWSLIME SVVPSDKGNY TCVVENEYGS INHTYHLDVV ERSPHRPILQ AGLPANASTV 
VGGDVEFVCK VYSDAQPHIQ WIKHVEKNGS KYGPDGLPYL KVLKAAGVNT TDKEIEVLYI 
RNVTFEDAGE YTCLAGNSIG ISFHSAWLTV LPAPGREKEI TASPDYLEIA IYCIGVFLIA 
CMVVTVILCR MKNTTKKPDF SSQPAVHKLT KRIPLRRQVT VSAESSSSMN SNTPLVRITT 
RLSSTADTPM LAGVSEYELP EDPKWEFPRD KLTLGKPLGE GCFGQVVMAE AVGIDKDKPK 
EAVTVAVKML KDDATEKDLS DLVSEMEMMK MIGKHKNIIN LLGACTQDGP LYVIVEYASK 
GNLREYLRAR RPPGMEYSYD INRVPEEQMT FKDLVSCTYQ LARGMEYLAS QKCIHRDLAA 
RNVLVTENNV MKIADFGLAR DINNIDYYKK TTNGRLPVKW MAPEALFDRV YTHQSDVWSF 
GVLMWEIFTL GGSPYPGIPV EELFKLLKEG HRMDKPANCT NELYMMMRDC WHAVPSQRPT 
FKQLVEDLDR ILTLTTNEEY LDLSQPLEQY SPSYPDTRSS CSSGDDSVFS PDPMPYEPCL 
PQYPHINGSV KT

Genular Protein ID: 4031292281

Symbol: S4R381_HUMAN

Name: N/A

UniProtKB Accession Codes:

S4R381

Database IDs:

ARBA 21 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChEBI 6 ChiTaRS 1 DNASU 1 EC 1 EMBL 2 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 3 Gene3D 2 GeneTree 1 GenomeRNAi 1 HGNC 1 InterPro 11 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 6 PROSITE-ProRule 1 PeptideAtlas 2 Pfam 2 Proteomes 2 RefSeq 1 Rhea 3 SAM 1 SMART 3 SMR 1 SUPFAM 2 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 19369195

Title: Large-scale proteomics analysis of the human kinome.

PubMed ID: 19369195

DOI: 10.1074/mcp.M800588-MCP200

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

Sequence Information:

  • Length: 593
  • Mass: 66734
  • Checksum: 591832580BEC864F
  • Sequence:
    • MCLNKTKQLF GVAKRLPFWR KERSPHRPIL QAGLPANAST VVGGDVEFVC KVYSDAQPHI 
QWIKHVEKNG SKYGPDGLPY LKVLKAAGVN TTDKEIEVLY IRNVTFEDAG EYTCLAGNSI 
GISFHSAWLT VLPAPGREKE ITASPDYLEI AIYCIGVFLI ACMVVTVILC RMKNTTKKPD 
FSSQPAVHKL TKRIPLRRQV TVSAESSSSM NSNTPLVRIT TRLSSTADTP MLAGVSEYEL 
PEDPKWEFPR DKLTLGKPLG EGCFGQVVMA EAVGIDKDKP KEAVTVAVKM LKDDATEKDL 
SDLVSEMEMM KMIGKHKNII NLLGACTQDG PLYVIVEYAS KGNLREYLRA RRPPGMEYSY 
DINRVPEEQM TFKDLVSCTY QLARGMEYLA SQKCIHRDLA ARNVLVTENN VMKIADFGLA 
RDINNIDYYK KTTNGRLPVK WMAPEALFDR VYTHQSDVWS FGVLMWEIFT LGGSPYPGIP 
VEELFKLLKE GHRMDKPANC TNELYMMMRD CWHAVPSQRP TFKQLVEDLD RILTLTTNEE 
YLDLSQPLEQ YSPSYPDTRS SCSSGDDSVF SPDPMPYEPC LPQYPHINGS VKT

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.