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, NM_001144913.1, NM_001144914.1, NM_001144915.1, NM_001144916.1, NM_001144917.1, NM_001144918.1, NM_001144919.1, NM_022970.3, NM_023029.2, NR_073009.1
Associated with diseases ABS-2, Apert, BSTVS, craniosynost., Crouzon, ID, LADD, Pfeiffer, Saethre-Cho., cancer, gastric (Neoplasm of stomach), dysplasia, bent bone syndrome (BBDS), dysplasia, craniofacial-skeletal-dermatologic, Jackson-Weiss syndrome, Scaphocephaly and Axenfeld-Rieger anomaly, Scaphocephaly, maxillary retrusion, and mental retardation
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 78
Unique public DNA variants reported 15
Individuals with public variants 35
Hidden variants 244
Date created October 29, 2013
Date last updated September 28, 2016
Version FGFR2:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:3689
Entrez Gene 2263
PubMed articles FGFR2
OMIM - Gene 176943
OMIM - Diseases ABS-2 (Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis (ABS-2))
Apert (Apert syndrome)
BSTVS (Beare-Stevenson syndrome (BSTVS))
Crouzon (Crouzon syndrome)
LADD (lacrimoauriculodentodigital syndrome ((LADD), Levy-Hollister))
Pfeiffer (Pfeiffer syndrome)
Saethre-Cho. (Saethre-Chotzen syndrome)
cancer, gastric (Neoplasm of stomach)
dysplasia, bent bone syndrome (BBDS)
Jackson-Weiss syndrome
Scaphocephaly, maxillary retrusion, and mental retardation
HGMD FGFR2
GeneCards FGFR2
GeneTests FGFR2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00017094 10 Manually created transcript. (removed from reference sequence) NM_000141.4 - 78
00017095 10 Manually created transcript. NM_001144913.1 - 78
00017101 10 Manually created transcript. NM_022970.3 - 78
00002967 10 transcript variant 7 NM_001144917.1 NP_001138389.1 77
00017096 10 Manually created transcript. NM_001144914.1 - 77
00017097 10 Manually created transcript. NM_001144915.1 - 76
00017098 10 Manually created transcript. (removed from reference sequence) NM_001144916.1 - 76
00017099 10 Manually created transcript. (removed from reference sequence) NM_001144918.1 - 76
00017100 10 Manually created transcript. (removed from reference sequence) NM_001144919.1 - 76
00017102 10 Manually created transcript. (removed from reference sequence) NM_023029.2 - 76
00033769 10 transcript variant 14 NR_073009.1 - -


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