FGFR2 Chromosome 10

Fibroblast growth factor receptor 2

138 variants 138 Health Risk

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What This Gene Does

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]

Gene Info

Gene Group

"Receptor tyrosine kinases|CD molecules|I-set domain containing"

Locus Type

gene with protein product

Location

10q26.13

Ensembl

ENSG00000066468

Associated Conditions (47)

Beare-Stevenson cutis gyrata syndrome

Endometrial carcinoma

FGFR2-related craniosynostosis

11 conditions

FGFR2-related disorder

Pfeiffer syndrome

CRANIOSYNOSTOSIS

NONSYNDROMIC UNICORONAL

Crouzon syndrome

Craniosynostosis syndrome

Saethre-Chotzen syndrome

Isolated Coronal Synostosis

Inborn genetic diseases

FGFR2-realated disorder

Craniosynostosis

nonspecific

Levy-Hollister syndrome

Acrocephalosyndactyly type I

Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis

Neoplasm

+27 more conditions

Key Variants

RS121913478

Conflicting classifications of pathogenicity

Beare-Stevenson cutis gyrata syndrome, Endometrial carcinoma, FGFR2-related craniosynostosis

Health Risk

RS121918504

Conflicting classifications of pathogenicity

CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL, Crouzon syndrome

Health Risk

RS1276387170

Conflicting classifications of pathogenicity

Craniosynostosis syndrome, Saethre-Chotzen syndrome, Crouzon syndrome

Health Risk

RS1277734487

Conflicting classifications of pathogenicity

Health Risk

RS1318903454

Conflicting classifications of pathogenicity

Health Risk

RS1358919643

Conflicting classifications of pathogenicity

Health Risk

RS140813163

Conflicting classifications of pathogenicity

Health Risk

RS141724446

Conflicting classifications of pathogenicity

Health Risk

RS141929882

Conflicting classifications of pathogenicity

Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, Craniosynostosis syndrome

Health Risk

RS143978938

Conflicting classifications of pathogenicity

Health Risk

RS147307031

Conflicting classifications of pathogenicity

Health Risk

RS147674677

Conflicting classifications of pathogenicity

Crouzon syndrome, Isolated Coronal Synostosis, Beare-Stevenson cutis gyrata syndrome

Health Risk

All Variants (138)

RSID	Category	Clinical Significance	Conditions
RS1064796413	Health Risk	Likely pathogenic	—
RS1064796452	Health Risk	Likely pathogenic	—
RS121918498	Health Risk	Likely pathogenic	Acrocephalosyndactyly type I, Acrocephalosyndactyly type I
RS121918500	Health Risk	Likely pathogenic	Crouzon syndrome, FGFR2-related craniosynostosis, Crouzon syndrome
RS121918503	Health Risk	Likely pathogenic	Pfeiffer syndrome, Pfeiffer syndrome
RS1554907337	Health Risk	Likely pathogenic	Levy-Hollister syndrome, Levy-Hollister syndrome
RS1554907364	Health Risk	Likely pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS1554914180	Health Risk	Likely pathogenic	—
RS1554917471	Health Risk	Likely pathogenic	Levy-Hollister syndrome, Levy-Hollister syndrome
RS1554928978	Health Risk	Likely pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS1564875577	Health Risk	Likely pathogenic	—
RS1850299732	Health Risk	Likely pathogenic	Crouzon syndrome, Crouzon syndrome
RS1850314485	Health Risk	Likely pathogenic	Ectrodactyly, Ectrodactyly
RS2133823028	Health Risk	Likely pathogenic	Bilateral sensorineural hearing impairment, Bilateral sensorineural hearing impairment
RS2133835239	Health Risk	Likely pathogenic	Acrocephalosyndactyly type I, Acrocephalosyndactyly type I
RS2133944245	Health Risk	Likely pathogenic	FGFR2-related craniosynostosis, FGFR2-related craniosynostosis
RS2133975330	Health Risk	Likely pathogenic	Levy-Hollister syndrome, Levy-Hollister syndrome
RS2134256765	Health Risk	Likely pathogenic	—
RS2539419195	Health Risk	Likely pathogenic	Pfeiffer syndrome, Pfeiffer syndrome
RS2540116264	Health Risk	Likely pathogenic	FGFR2-related disorder, FGFR2-related disorder
RS2540122419	Health Risk	Likely pathogenic	FGFR2-related craniosynostosis, Inborn genetic diseases, FGFR2-related craniosynostosis
RS2540580216	Health Risk	Likely pathogenic	—
RS387906678	Health Risk	Likely pathogenic	Bent bone dysplasia syndrome 1, Inborn genetic diseases, FGFR2-related disorder
RS1057519036	Health Risk	Pathogenic	Crouzon syndrome, FGFR2-related craniosynostosis, Crouzon syndrome
RS1057519037	Health Risk	Pathogenic	Pfeiffer syndrome, FGFR2-related craniosynostosis, Common craniosynostosis syndromes
RS1057519041	Health Risk	Pathogenic	Pfeiffer syndrome, FGFR2-related craniosynostosis, 11 conditions
RS1057519043	Health Risk	Pathogenic	Crouzon syndrome, FGFR2-related craniosynostosis, FGFR2-related craniosynostosis
RS121913477	Health Risk	Pathogenic	Beare-Stevenson cutis gyrata syndrome, FGFR2-related craniosynostosis, Beare-Stevenson cutis gyrata syndrome
RS121918487	Health Risk	Pathogenic	Crouzon syndrome, Pfeiffer syndrome, FGFR2-related craniosynostosis
RS121918488	Health Risk	Pathogenic	Pfeiffer syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Crouzon syndrome
RS121918489	Health Risk	Pathogenic	Crouzon syndrome, FGFR2-related craniosynostosis, Common craniosynostosis syndromes
RS121918490	Health Risk	Pathogenic	Crouzon syndrome, FGFR2-related craniosynostosis, Inborn genetic diseases
RS121918491	Health Risk	Pathogenic	SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY, Crouzon syndrome, CRANIOSYNOSTOSIS
RS121918492	Health Risk	Pathogenic	Crouzon syndrome, Jackson-Weiss syndrome, FGFR2-related craniosynostosis
RS121918495	Health Risk	Pathogenic	Pfeiffer syndrome, FGFR2-related craniosynostosis, Pfeiffer syndrome
RS121918496	Health Risk	Pathogenic	Crouzon syndrome, FGFR2-related craniosynostosis, Common craniosynostosis syndromes
RS121918497	Health Risk	Pathogenic	Crouzon syndrome, Jackson-Weiss syndrome, Pfeiffer syndrome
RS121918499	Health Risk	Pathogenic	Pfeiffer syndrome, Aural atresia, congenital
RS121918501	Health Risk	Pathogenic	Crouzon syndrome, FGFR2-related craniosynostosis, Crouzon syndrome
RS121918502	Health Risk	Pathogenic	Pfeiffer syndrome type 3, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Pfeiffer syndrome
RS121918505	Health Risk	Pathogenic	Pfeiffer syndrome, Crouzon syndrome, FGFR2-related craniosynostosis
RS121918508	Health Risk	Pathogenic	Levy-Hollister syndrome, FGFR2-related craniosynostosis, Familial scaphocephaly syndrome
RS121918509	Health Risk	Pathogenic	LADD syndrome 1, LADD syndrome 1
RS121918510	Health Risk	Pathogenic	Pfeiffer syndrome, FGFR2-related craniosynostosis, FGFR2-related craniosynostosis
RS1274989878	Health Risk	Pathogenic	FGFR2-related craniosynostosis, FGFR2-related craniosynostosis
RS1554927408	Health Risk	Pathogenic	FGFR2-related craniosynostosis, 11 conditions, FGFR2-related craniosynostosis
RS1554928786	Health Risk	Pathogenic	FGFR2-related craniosynostosis, FGFR2-related craniosynostosis
RS1554928884	Health Risk	Pathogenic	FGFR2-related craniosynostosis, Pfeiffer syndrome, FGFR2-related craniosynostosis
RS1554930637	Health Risk	Pathogenic	Beare-Stevenson cutis gyrata syndrome, Beare-Stevenson cutis gyrata syndrome
RS1554930790	Health Risk	Pathogenic	FGFR2-related craniosynostosis, FGFR2-related craniosynostosis

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