FGFR2
Homo sapiens
Gene Name: fibroblast growth factor receptor 2
Aliases: BBDS, BEK, BFR-1, CD332, CEK3, CFD1, ECT1, JWS, K-SAM, KGFR, TK14, TK25
Chromosome No: 10
Chromosome Band: 10q26.13
Genetic Category: Functional-Rare single gene variant-Syndromic
Aliases: BBDS, BEK, BFR-1, CD332, CEK3, CFD1, ECT1, JWS, K-SAM, KGFR, TK14, TK25
Chromosome No: 10
Chromosome Band: 10q26.13
Genetic Category: Functional-Rare single gene variant-Syndromic
Summary Statistics:
ASD Reports: 10
Recent Reports: 0
Annotated variants: 11
Associated CNVs: 12
Evidence score: 3
ASD Reports: 10
Recent Reports: 0
Annotated variants: 11
Associated CNVs: 12
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
siRNA-mediated downregulation of Fgr2 in mice resulted in abnormal neuronal migration and spine density during cortical development, as well as reduced ultrasonic vocalizations and impaired social interactions; conversely, overexpression of FGFR2 was shown to rescue neuronal migration and spine defects and ASD-related core behaviors in Negr1-downregulated mice (Szczurkowska et al., 2018).
Molecular Function
Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, and in the regulation of embryonic development.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
NEGR1 and FGFR2 cooperatively regulate cortical development and core behaviours related to autism disorders in mice.
Support
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
DD, ID
Support
Fibroblast Growth Factor Receptor 2 (FGFR2), a New Gene Involved in the Genesis of Autism Spectrum Disorder
ASD, ADHD, DD
Support
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
ASD
ADD
Support
Impaired Neurodevelopmental Genes in Slovenian Autistic Children Elucidate the Comorbidity of Autism With Other Developmental Disorders
ASD
DD
Support
Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort
ASD, epilepsy/seizures
Support
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
ASD
Support
Deciphering the etiology of undiagnosed ocular anomalies along with systemic alterations in pediatric patients through whole exome sequencing
Ocular anomalies
DD
