The FGFR2 gene homepage

General information
Gene symbol FGFR2
Gene name fibroblast growth factor receptor 2
Chromosome 10
Chromosomal band q25.3-q26
Imprinted Unknown
Genomic reference NG_012449.1
Transcript reference NM_000141.4
Exon/intron information NM_000141.4 exon/intron table
Associated with diseases ABS2, Apert, BBDS, BSTVS, cancer, gastric, craniosynost., Crouzon, ID, JWS, LADD, Pfeiffer, SCS, dysplasia, craniofacial-skeletal-dermatologic, Scaphocephaly and Axenfeld-Rieger anomaly, Scaphocephaly, maxillary retrusion, and mental retardation
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Karen E. Heath
Total number of public variants reported 223
Unique public DNA variants reported 142
Individuals with public variants 84
Hidden variants 11
Download all this gene's data Download all data
Date created June 25, 2012
Date last updated May 09, 2022
Version FGFR2:220509

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000141.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 3689
Entrez Gene 2263
PubMed articles FGFR2
OMIM - Gene 176943
OMIM - Diseases ABS2 (Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis (ABS-2))
Apert (Apert syndrome)
BBDS (dysplasia, bent bone syndrome (BBDS))
BSTVS (Beare-Stevenson syndrome (BSTVS))
cancer, gastric (cancer, gastric (Neoplasm of stomach))
Crouzon (Crouzon syndrome)
JWS (Jackson-Weiss syndrome)
LADD (LADD syndrome (lacrimoauriculodentodigital, Levy-Hollister))
Pfeiffer (Pfeiffer syndrome)
SCS (Saethre-Chotzen syndrome, with/without eyelid anomalies (SCS))
Scaphocephaly, maxillary retrusion, and mental retardation
GeneCards FGFR2
GeneTests FGFR2
Orphanet FGFR2

Active transcripts




NCBI ID     

NCBI Protein ID     

00000235 10 transcript variant 1 NM_000141.4 NP_000132.3 223

Copyright & disclaimer
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