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14-742M Sigma-AldrichFGFR2 (N549H) Protein, active, 250 µg

Active, N-terminal, 6His-tagged, recombinant, human FGFR2 (N549H), amino acids 456-770. For use in Kinase Assays.

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Overview

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Description
Catalogue Number	14-742M
Brand Family	Upstate
Trade Name	Upstate
Description	FGFR2 (N549H) Protein, active, 250 µg
Overview	N-terminal, 6His-tagged, recombinant, human FGFR2 (N549H), amino acids 456-770.

References

Product Information
Presentation	10 μg of enzyme in 6.3 μL of 50 mM Tris/HCl pH 7.5, 300 mM NaCl, 0.1 mM EGTA, 0.03% Brij 35, 270 mM sucrose, 1 mM benzamidine, 0.2 mM PMSF, 0.1% 2-mercaptoethanol. Frozen solution.
Quality Level	MQ300

Applications
Application	Active, N-terminal, 6His-tagged, recombinant, human FGFR2 (N549H), amino acids 456-770. For use in Kinase Assays.
Key Applications	Kinase Assay

Biological Information
Source	recombinant, human FGFR2 (N549H), amino acids 456-770, expressed by baculovirus in Sf21 insect cells.
Specific Activity	6250U/mg, where one unit of FGFR2 (N549H) activity is defined as 1nmol phosphate incorporated into 500μM GGEEEEYFELVKKKK per minute at 30°C with a final ATP concentration of 100µM.
Entrez Gene Number	NM_000141.3 NM_022970.2
Entrez Gene 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. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized.
Gene Symbol	FGFR2 CD332 JWS FGFR-2 ECT1 CFD1 TK25 CEK3 TK14 BEK KGFR K-SAM BFR-1 KSAM
Protein Target	FGFR2
Purification Method	Ni²⁺/NTA-agarose
Target Sub-Family	TK
UniProt Number	P21802
UniProt Summary	FUNCTION: SwissProt: P21802 # Receptor for acidic and basic fibroblast growth factors. SIZE: 821 amino acids; 92025 Da SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. & Isoform 14: Secreted. & Isoform 19: Secreted. DISEASE: SwissProt: P21802 # Defects in FGFR2 are a cause of Crouzon syndrome (CS) [MIM:123500]; also called craniofacial dysostosis type I (CFD1). CS is an autosomal dominant syndrome characterized by craniosynostosis (premature fusion of the skull sutures), hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism. & Defects in FGFR2 are a cause of Jackson-Weiss syndrome (JWS) [MIM:123150]. JWS is an autosomal dominant craniosynostosis syndrome characterized by craniofacial abnormalities and abnormality of the feet: broad great toes with medial deviation and tarsal-metatarsal coalescence. & Defects in FGFR2 are a cause of Apert syndrome (AS) [MIM:101200]; also known as acrocephalosyndactyly type I (ACS1). AS is characterized by craniosynostosis (premature fusion of the skull sutures) and severe syndactyly (cutaneous and bony fusion of the digits). AS inheritance is autosomal dominant. & Defects in FGFR2 are a cause of Pfeiffer syndrome (PS) [MIM:101600]; also known as acrocephalosyndactyly type V (ACS5). PS is characterized by craniosynostosis (premature fusion of the skull sutures) with deviation and enlargement of the thumbs and great toes, brachymesophalangy, with phalangeal ankylosis and a varying degree of soft tissue syndactyly. Three subtypes of Pfeiffer syndrome have been described: mild autosomal dominant form (type 1); cloverleaf skull, elbow ankylosis, early death, sporadic (type 2); craniosynostosis, early demise, sporadic (type 3). & Defects in FGFR2 are the cause of Beare-Stevenson cutis gyrata syndrome (BSCGS) [MIM:123790]. BSCGS is an autosomal dominant condition is characterized by the furrowed skin disorder of cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities and early death. & Defects in FGFR2 are the cause of familial scaphocephaly syndrome [MIM:609579]; also known as scaphocephaly with maxillary retrusion and mental retardation. This autosomal dominant craniosynostosis syndrome is characterized by scaphocephaly, macrocephaly, hypertelorism, maxillary retrusion, and mild intellectual disability. & Defects in FGFR2 are a cause of lacrimo-auriculo-dento- digital syndrome (LADD syndrome) [MIM:149730]; also known as Levy- Hollister syndrome. LADD syndrome is a form of ectodermal dysplasia. Ectodermal dysplasias (EDs) constitute a heterogeneous group of developmental disorders affecting tissues of ectodermal origin. EDs are characterized by abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. LADD syndrome is an autosomal dominant multiple congenital anomaly. It is characterized by aplastic/hypoplastic lacrimal and salivary glands and ducts, cup- shaped ears, hearing loss, hypodontia and enamel hypoplasia, and distal limb segments anomalies. In addition to these cardinal features, facial dysmorphism, malformations of the kidney and respiratory system and abnormal genitalia have been reported. Craniosynostosis and severe syndactyly are not observed. & Defects in FGFR2 are the cause of Antley-Bixler syndrome (ABS) [MIM:207410]. ABS is a multiple congenital anomaly syndrome characterized by craniosynostosis, radiohumeral synostosis, midface hypoplasia, malformed ears, arachnodactyly and multiple joint contractures. ABS is a heterogeneous disorder and occurs with and without abnormal genitalia in both sexes. SIMILARITY: SwissProt: P21802 ## Belongs to the protein kinase superfamily. Tyr protein kinase family. Fibroblast growth factor receptor subfamily. & Contains 3 Ig-like C2-type (immunoglobulin-like) domains. & Contains 1 protein kinase domain.
Molecular Weight	38.1 kDa

Physicochemical Information

Dimensions

Materials Information

Toxicological Information

Safety Information according to GHS

Safety Information

Product Usage Statements
Quality Assurance	Routinely evaluated by phosphorylation of 500 μM GGEEEEYFELVKKKK. Purity was assessed by SDS-PAGE and Coomassie blue staining using 3μg of active GFGR2 (N549H).
Usage Statement	Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.

Storage and Shipping Information
Storage Conditions	Stable for 6 months at -70°C from date of shipment. For maximum recovery of product, centrifuge original vial prior to removing the cap. Rapidly thaw the vial under cold water and immediately place on ice. Aliquot unused material into pre-chilled microcentrifuge tubes and immediately snap-freeze the vials in liquid nitrogen prior to re-storage at -70°C.

Packaging Information
Material Size	250 µg
Material Package	Also available in 10 μg size (cat#14-742) and in bulk (cat# 14-742-K).

Transport Information

Supplemental Information

Specifications

Global Trade Item Number
Catalogue Number	GTIN
14-742M	04053252411939

Documentation

Related Products & Applications

Product Families

Categories

Life Science Research > Proteins and Enzymes > Purified Kinases

Life Science Research > Drug Discovery and Development > Kinase & Phosphatase Screening > Purified Kinases

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