FGFR2
fibroblast growth factor receptor 2, the group of Receptor tyrosine kinases|CD molecules|I-set domain containing
Basic information
Region (hg38): 10:121478332-121598458
Previous symbols: [ "KGFR", "BEK", "CFD1", "JWS" ]
Links
Phenotypes
GenCC
Source:
- Crouzon syndrome (Definitive), mode of inheritance: AD
- Apert syndrome (Definitive), mode of inheritance: AD
- LADD syndrome 1 (Definitive), mode of inheritance: AD
- Jackson-Weiss syndrome (Definitive), mode of inheritance: AD
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (Definitive), mode of inheritance: AD
- Beare-Stevenson cutis gyrata syndrome (Definitive), mode of inheritance: AD
- Pfeiffer syndrome (Definitive), mode of inheritance: AD
- Apert syndrome (Strong), mode of inheritance: AD
- Crouzon syndrome (Strong), mode of inheritance: AD
- Pfeiffer syndrome (Strong), mode of inheritance: AD
- Saethre-Chotzen syndrome (Strong), mode of inheritance: AD
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (Strong), mode of inheritance: AD
- Apert syndrome (Strong), mode of inheritance: AD
- Beare-Stevenson cutis gyrata syndrome (Strong), mode of inheritance: AD
- Pfeiffer syndrome (Strong), mode of inheritance: AD
- Crouzon syndrome (Strong), mode of inheritance: AD
- Jackson-Weiss syndrome (Strong), mode of inheritance: AD
- Saethre-Chotzen syndrome (Strong), mode of inheritance: AD
- familial scaphocephaly syndrome, McGillivray type (Strong), mode of inheritance: AD
- Pfeiffer syndrome (Definitive), mode of inheritance: AD
- Crouzon syndrome (Definitive), mode of inheritance: AD
- bent bone dysplasia syndrome 1 (Moderate), mode of inheritance: AD
- Crouzon syndrome (Supportive), mode of inheritance: AD
- Apert syndrome (Supportive), mode of inheritance: AD
- Antley-Bixler syndrome (Supportive), mode of inheritance: AD
- Jackson-Weiss syndrome (Supportive), mode of inheritance: AD
- Beare-Stevenson cutis gyrata syndrome (Supportive), mode of inheritance: AD
- LADD syndrome (Supportive), mode of inheritance: AD
- Pfeiffer syndrome type 1 (Supportive), mode of inheritance: AD
- Pfeiffer syndrome type 2 (Supportive), mode of inheritance: AD
- Pfeiffer syndrome type 3 (Supportive), mode of inheritance: AD
- familial scaphocephaly syndrome, McGillivray type (Supportive), mode of inheritance: AD
- bent bone dysplasia syndrome 1 (Supportive), mode of inheritance: AD
- LADD syndrome 1 (Definitive), mode of inheritance: Mitochondrial
- bent bone dysplasia syndrome 1 (Strong), mode of inheritance: AD
- Pfeiffer syndrome (Strong), mode of inheritance: AD
- LADD syndrome 1 (Strong), mode of inheritance: AD
- Apert syndrome (Definitive), mode of inheritance: AD
- Beare-Stevenson cutis gyrata syndrome (Definitive), mode of inheritance: AD
- Crouzon syndrome (Definitive), mode of inheritance: AD
- Pfeiffer syndrome (Definitive), mode of inheritance: AD
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Lacrimoauriculodentodigital syndrome 1; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Craniofacial-skeletal-dermatological dysplasia; Crouzon syndrome; Jackson-Weiss syndrome; Pfeiffer syndrome; Apert syndrome; Beare-Stevenson cutis gyrata syndrome | AD | Audiologic/Otolaryngologic | Early recognition and treatment of hearing impairment may improve outcomes, including speech and language development | Audiologic/Otolaryngologic; Craniofacial; Dental; Dermatologic; Musculoskeletal; Neurologic | 13801313; 5781468; 1271196; 660365; 1519658; 7874170; 7987400; 7674004; 7719333; 8528214; 7719345; 7795583; 7719344; 8644708; 8673103; 8696350; 8683284; 8651276; 9002682; 9150725; 9605588; 9714439; 9664610; 9585583; 9475590; 9475591; 10076886; 10076887; 10067911; 9973282; 10712195; 10951518; 10945669; 10633130; 10735635; 11343323; 12400058; 12900791; 15996217; 15793702; 16440883; 16061565; 16969861; 16876521; 16691624; 16501574; 17529973; 18247426; 19610084; 22387015 |
| FGFR2-related craniosynostosis can include deafness, and may be clinically recognizable, including by outer ear malformations |
ClinVar
This is a list of variants' phenotypes submitted to
- FGFR2-related craniosynostosis (49 variants)
- not provided (29 variants)
- Crouzon syndrome (21 variants)
- Pfeiffer syndrome (17 variants)
- FGFR2-related disorder (7 variants)
- Jackson-Weiss syndrome (6 variants)
- 11 conditions (6 variants)
- Acrocephalosyndactyly type I (4 variants)
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (3 variants)
- Endometrium neoplasm (2 variants)
- Bent bone dysplasia syndrome 1 (2 variants)
- Inborn genetic diseases (2 variants)
- Levy-Hollister syndrome (2 variants)
- Malignant neoplasm of body of uterus (1 variants)
- Pfeiffer syndrome type 3 (1 variants)
- Beare-Stevenson cutis gyrata syndrome (1 variants)
- Endometrial carcinoma (1 variants)
- See cases (1 variants)
- Aural atresia, congenital (1 variants)
- Gastric cancer (1 variants)
- FGFR2-related syndromic and non-syndromic craniosynostoses (1 variants)
- Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation (1 variants)
- Scaphocephaly and axenfeld-rieger anomaly (1 variants)
- Acrocephalosyndactyly (1 variants)
- Gastric adenocarcinoma (1 variants)
- Uterine carcinosarcoma (1 variants)
- Squamous cell lung carcinoma (1 variants)
- Craniosynostosis, nonclassifiable autosomal dominant (1 variants)
- Pfeiffer syndrome;Crouzon syndrome;Acrocephalosyndactyly type I (1 variants)
- Craniofacial-skeletal-dermatologic dysplasia (1 variants)
- Craniosynostosis, nonsyndromic unicoronal (1 variants)
- Craniosynostosis syndrome (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the FGFR2 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 11 | 94 | 109 | |||
| missense | 50 | 41 | 171 | 272 | ||
| nonsense | 5 | |||||
| start loss | 1 | |||||
| frameshift | 3 | |||||
| inframe indel | 9 | |||||
| splice donor/acceptor (+/-2bp) | 7 | |||||
| splice region | 2 | 1 | 10 | 21 | 1 | 35 |
| non coding | 31 | 103 | 70 | 204 | ||
| Total | 56 | 46 | 228 | 204 | 76 |
Highest pathogenic variant AF is 0.00000657
Variants in FGFR2
This is a list of pathogenic ClinVar variants found in the FGFR2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 10-121478354-ATTTAT-A | Beare-Stevenson cutis gyrata syndrome • Jackson-Weiss syndrome • Acrocephalosyndactyly type I • Levy-Hollister syndrome • Saethre-Chotzen syndrome • Craniosynostosis syndrome • Isolated coronal synostosis • Crouzon syndrome • Pfeiffer syndrome | Likely benign (Jun 14, 2016) | ||
| 10-121478368-G-A | Saethre-Chotzen syndrome • Isolated coronal synostosis • Craniosynostosis syndrome • Beare-Stevenson cutis gyrata syndrome • Crouzon syndrome | Uncertain significance (Jan 13, 2018) | ||
| 10-121478455-A-G | Craniosynostosis syndrome • Saethre-Chotzen syndrome • Crouzon syndrome • Beare-Stevenson cutis gyrata syndrome • Isolated coronal synostosis | Uncertain significance (Jan 12, 2018) | ||
| 10-121478488-G-A | Beare-Stevenson cutis gyrata syndrome • Crouzon syndrome • Craniosynostosis syndrome • Saethre-Chotzen syndrome • Isolated coronal synostosis • 11 conditions | Uncertain significance (Jan 13, 2022) | ||
| 10-121478538-T-C | Beare-Stevenson cutis gyrata syndrome • Saethre-Chotzen syndrome • Craniosynostosis syndrome • Crouzon syndrome • Isolated coronal synostosis | Benign/Likely benign (Jan 12, 2018) | ||
| 10-121478556-G-A | Craniosynostosis syndrome • Crouzon syndrome • Saethre-Chotzen syndrome • Beare-Stevenson cutis gyrata syndrome • Isolated coronal synostosis | Benign/Likely benign (Jan 12, 2018) | ||
| 10-121478570-T-G | Craniosynostosis syndrome • Beare-Stevenson cutis gyrata syndrome • Isolated coronal synostosis • Crouzon syndrome • Saethre-Chotzen syndrome | Uncertain significance (Jan 13, 2018) | ||
| 10-121478574-G-C | Crouzon syndrome • Isolated coronal synostosis • Beare-Stevenson cutis gyrata syndrome • Craniosynostosis syndrome • Saethre-Chotzen syndrome | Uncertain significance (Jan 12, 2018) | ||
| 10-121478617-T-G | Craniosynostosis syndrome • Saethre-Chotzen syndrome • Beare-Stevenson cutis gyrata syndrome • Isolated coronal synostosis • Crouzon syndrome | Uncertain significance (Jan 13, 2018) | ||
| 10-121478731-A-G | Isolated coronal synostosis • Saethre-Chotzen syndrome • Crouzon syndrome • Beare-Stevenson cutis gyrata syndrome • Craniosynostosis syndrome | Uncertain significance (Jan 12, 2018) | ||
| 10-121478787-A-G | Craniosynostosis syndrome • Crouzon syndrome • Beare-Stevenson cutis gyrata syndrome • Saethre-Chotzen syndrome • Isolated coronal synostosis | Uncertain significance (Jan 13, 2018) | ||
| 10-121478936-C-T | Beare-Stevenson cutis gyrata syndrome • Craniosynostosis syndrome • Crouzon syndrome • Isolated coronal synostosis • Saethre-Chotzen syndrome | Uncertain significance (Jan 13, 2018) | ||
| 10-121478983-T-C | Craniosynostosis syndrome • Isolated coronal synostosis • Saethre-Chotzen syndrome • Crouzon syndrome • Beare-Stevenson cutis gyrata syndrome | Uncertain significance (Jan 13, 2018) | ||
| 10-121479120-C-CT | Isolated coronal synostosis • Beare-Stevenson cutis gyrata syndrome • Pfeiffer syndrome • Acrocephalosyndactyly type I • Levy-Hollister syndrome • Jackson-Weiss syndrome • Craniosynostosis syndrome • Crouzon syndrome • Saethre-Chotzen syndrome | Uncertain significance (Jun 14, 2016) | ||
| 10-121479127-C-G | Isolated coronal synostosis • Crouzon syndrome • Craniosynostosis syndrome • Beare-Stevenson cutis gyrata syndrome • Saethre-Chotzen syndrome | Uncertain significance (Jan 12, 2018) | ||
| 10-121479183-C-A | Beare-Stevenson cutis gyrata syndrome • Isolated coronal synostosis • Crouzon syndrome • Craniosynostosis syndrome • Saethre-Chotzen syndrome | Conflicting classifications of pathogenicity (Dec 01, 2022) | ||
| 10-121479212-GATTA-G | Saethre-Chotzen syndrome • Levy-Hollister syndrome • Beare-Stevenson cutis gyrata syndrome • Acrocephalosyndactyly type I • Isolated coronal synostosis • Craniosynostosis syndrome • Crouzon syndrome • Jackson-Weiss syndrome • Pfeiffer syndrome | Likely benign (Jun 14, 2016) | ||
| 10-121479360-A-G | Saethre-Chotzen syndrome • Crouzon syndrome • Isolated coronal synostosis • Beare-Stevenson cutis gyrata syndrome • Craniosynostosis syndrome | Uncertain significance (Jan 12, 2018) | ||
| 10-121479388-C-T | Craniosynostosis syndrome • Isolated coronal synostosis • Crouzon syndrome • Beare-Stevenson cutis gyrata syndrome • Saethre-Chotzen syndrome | Benign (Jun 30, 2018) | ||
| 10-121479394-T-C | Saethre-Chotzen syndrome • Craniosynostosis syndrome • Isolated coronal synostosis • Beare-Stevenson cutis gyrata syndrome • Crouzon syndrome | Uncertain significance (Apr 27, 2017) | ||
| 10-121479454-T-C | Isolated coronal synostosis • Craniosynostosis syndrome • Crouzon syndrome • Saethre-Chotzen syndrome • Beare-Stevenson cutis gyrata syndrome | Benign/Likely benign (Jul 15, 2018) | ||
| 10-121479533-T-C | Crouzon syndrome • Craniosynostosis syndrome • Isolated coronal synostosis • Beare-Stevenson cutis gyrata syndrome • Saethre-Chotzen syndrome | Benign/Likely benign (Jan 13, 2018) | ||
| 10-121479575-T-C | FGFR2-related disorder | Likely benign (Apr 01, 2019) | ||
| 10-121479598-G-A | Isolated coronal synostosis • Saethre-Chotzen syndrome • Craniosynostosis syndrome • Crouzon syndrome • Beare-Stevenson cutis gyrata syndrome • not specified | Benign (May 09, 2018) | ||
| 10-121479601-C-T | Saethre-Chotzen syndrome • Craniosynostosis syndrome • Crouzon syndrome • Beare-Stevenson cutis gyrata syndrome • Isolated coronal synostosis • FGFR2-related disorder | Uncertain significance (Jan 13, 2018) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| FGFR2 | protein_coding | protein_coding | ENST00000457416 | 17 | 120125 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.997 | 0.00269 | 125738 | 0 | 10 | 125748 | 0.0000398 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.40 | 323 | 469 | 0.688 | 0.0000281 | 5404 |
| Missense in Polyphen | 130 | 206.49 | 0.62957 | 2412 | ||
| Synonymous | -1.17 | 205 | 185 | 1.11 | 0.0000126 | 1591 |
| Loss of Function | 5.29 | 6 | 43.8 | 0.137 | 0.00000248 | 499 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000123 | 0.000123 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.000231 | 0.000231 |
| European (Non-Finnish) | 0.0000265 | 0.0000264 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- 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. Required for normal embryonic patterning, trophoblast function, limb bud development, lung morphogenesis, osteogenesis and skin development. Plays an essential role in the regulation of osteoblast differentiation, proliferation and apoptosis, and is required for normal skeleton development. Promotes cell proliferation in keratinocytes and immature osteoblasts, but promotes apoptosis in differentiated osteoblasts. Phosphorylates PLCG1, FRS2 and PAK4. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. FGFR2 signaling is down-regulated by ubiquitination, internalization and degradation. Mutations that lead to constitutive kinase activation or impair normal FGFR2 maturation, internalization and degradation lead to aberrant signaling. Over-expressed FGFR2 promotes activation of STAT1. {ECO:0000269|PubMed:12529371, ECO:0000269|PubMed:15190072, ECO:0000269|PubMed:15629145, ECO:0000269|PubMed:16384934, ECO:0000269|PubMed:16597617, ECO:0000269|PubMed:17311277, ECO:0000269|PubMed:17623664, ECO:0000269|PubMed:18374639, ECO:0000269|PubMed:19103595, ECO:0000269|PubMed:19387476, ECO:0000269|PubMed:19410646, ECO:0000269|PubMed:21596750, ECO:0000269|PubMed:8663044}.;
- Disease
- DISEASE: Crouzon syndrome (CS) [MIM:123500]: An autosomal dominant syndrome characterized by craniosynostosis, hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism. {ECO:0000269|PubMed:10574673, ECO:0000269|PubMed:11173845, ECO:0000269|PubMed:11380921, ECO:0000269|PubMed:11781872, ECO:0000269|PubMed:17803937, ECO:0000269|PubMed:7581378, ECO:0000269|PubMed:7655462, ECO:0000269|PubMed:7874170, ECO:0000269|PubMed:7987400, ECO:0000269|PubMed:8528214, ECO:0000269|PubMed:8644708, ECO:0000269|PubMed:8946174, ECO:0000269|PubMed:8956050, ECO:0000269|PubMed:9152842, ECO:0000269|PubMed:9521581, ECO:0000269|PubMed:9677057, ECO:0000269|Ref.10}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Jackson-Weiss syndrome (JWS) [MIM:123150]: An autosomal dominant craniosynostosis syndrome characterized by craniofacial abnormalities and abnormality of the feet: broad great toes with medial deviation and tarsal-metatarsal coalescence. {ECO:0000269|PubMed:7874170, ECO:0000269|PubMed:8528214, ECO:0000269|PubMed:8644708, ECO:0000269|PubMed:9385368, ECO:0000269|PubMed:9677057}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Apert syndrome (APRS) [MIM:101200]: A syndrome characterized by facio-cranio-synostosis, osseous and membranous syndactyly of the four extremities, and midface hypoplasia. The craniosynostosis is bicoronal and results in acrocephaly of brachysphenocephalic type. Syndactyly of the fingers and toes may be total (mitten hands and sock feet) or partial affecting the second, third, and fourth digits. Intellectual deficit is frequent and often severe, usually being associated with cerebral malformations. {ECO:0000269|PubMed:11390973, ECO:0000269|PubMed:11781872, ECO:0000269|PubMed:15190072, ECO:0000269|PubMed:7668257, ECO:0000269|PubMed:7719344, ECO:0000269|PubMed:9002682, ECO:0000269|PubMed:9452027, ECO:0000269|PubMed:9677057}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Pfeiffer syndrome (PS) [MIM:101600]: A syndrome characterized by the association of craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known: mild autosomal dominant form (type 1); cloverleaf skull, elbow ankylosis, early death, sporadic (type 2); craniosynostosis, early demise, sporadic (type 3). {ECO:0000269|PubMed:10394936, ECO:0000269|PubMed:10945669, ECO:0000269|PubMed:11173845, ECO:0000269|PubMed:11781872, ECO:0000269|PubMed:16844695, ECO:0000269|PubMed:17803937, ECO:0000269|PubMed:7719333, ECO:0000269|PubMed:7719345, ECO:0000269|PubMed:8644708, ECO:0000269|PubMed:9002682, ECO:0000269|PubMed:9150725, ECO:0000269|PubMed:9693549, ECO:0000269|PubMed:9719378}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Beare-Stevenson cutis gyrata syndrome (BSTVS) [MIM:123790]: An autosomal dominant disease characterized by craniofacial anomalies, particularly craniosynostosis, and ear defects, cutis gyrata, acanthosis nigricans, anogenital anomalies, skin tags, and prominent umbilical stump. The skin furrows have a corrugated appearance and are widespread. Cutis gyrata variably affects the scalp, forehead, face, preauricular area, neck, trunk, hands, and feet. {ECO:0000269|PubMed:12000365, ECO:0000269|PubMed:8696350}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Familial scaphocephaly syndrome (FSPC) [MIM:609579]: An autosomal dominant craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, hypertelorism, maxillary retrusion, and mild intellectual disability. Scaphocephaly is the most common of the craniosynostosis conditions and is characterized by a long, narrow head. It is due to premature fusion of the sagittal suture or from external deformation. {ECO:0000269|PubMed:16061565, ECO:0000269|PubMed:17803937}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]: An autosomal dominant ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Lacrimo-auriculo-dento-digital syndrome 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. {ECO:0000269|PubMed:16501574, ECO:0000269|PubMed:18056630}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis (ABS2) [MIM:207410]: A rare syndrome characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures. Arachnodactyly and/or camptodactyly have also been reported. {ECO:0000269|PubMed:10633130}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Bent bone dysplasia syndrome (BBDS) [MIM:614592]: A perinatal lethal skeletal dysplasia characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones. Dysmorphic facial features included low-set ears, hypertelorism, midface hypoplasia, prematurely erupted fetal teeth, and micrognathia. {ECO:0000269|PubMed:22387015}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Saethre-Chotzen syndrome (SCS) [MIM:101400]: A craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly. {ECO:0000269|PubMed:9585583}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
- Pathway
- PI3K-Akt signaling pathway - Homo sapiens (human);Gastric cancer - Homo sapiens (human);Central carbon metabolism in cancer - Homo sapiens (human);Endocytosis - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human);Prostate cancer - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Vemurafenib Pathway, Pharmacodynamics;update your name in edit mode;VEGF Signaling Pathway;Angiogenesis;MicroRNAs in cardiomyocyte hypertrophy;Neural Crest Differentiation;Signaling Pathways in Glioblastoma;Cardiac Hypertrophic Response;Hair Follicle Development- Induction (Part 1 of 3);Ectoderm Differentiation;MAPK Signaling Pathway;BMP Signaling Pathway in Eyelid Development;ESC Pluripotency Pathways;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;Endometrial cancer;PI3K-Akt Signaling Pathway;Ras Signaling;Regulation of Actin Cytoskeleton;FGFR2 alternative splicing;FGFR2b ligand binding and activation;FGFR2c ligand binding and activation;FGFR2 ligand binding and activation;FRS-mediated FGFR2 signaling;Negative regulation of FGFR2 signaling;Signaling by FGFR2;Phospholipase C-mediated cascade; FGFR2;SHC-mediated cascade:FGFR2;PI-3K cascade:FGFR2;Downstream signaling of activated FGFR2;Disease;Signal Transduction;Signaling by FGFR;PI3K Cascade;IRS-mediated signalling;Insulin receptor signalling cascade;Activated point mutants of FGFR2;Signaling by Insulin receptor;Signaling by FGFR2 IIIa TM;FGF;Signaling by FGFR2 in disease;Fibroblast growth factor-1;IL-7 signaling;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;PIP3 activates AKT signaling;JAK STAT pathway and regulation;EPO signaling;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Negative regulation of the PI3K/AKT network;Signaling by FGFR2 fusions;FGFR2 mutant receptor activation;Signaling by FGFR in disease;Constitutive Signaling by Aberrant PI3K in Cancer;PI3K/AKT Signaling in Cancer;IRS-related events triggered by IGF1R;IGF1R signaling cascade;Signaling by FGFR2 amplification mutants;Signaling by Receptor Tyrosine Kinases;VEGF;Intracellular signaling by second messengers;Diseases of signal transduction;Syndecan-1-mediated signaling events;Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R);FGF signaling pathway;Syndecan-2-mediated signaling events;Syndecan-3-mediated signaling events
(Consensus)
Recessive Scores
- pRec
- 0.763
Intolerance Scores
- loftool
- 0.00179
- rvis_EVS
- -1.5
- rvis_percentile_EVS
- 3.57
Haploinsufficiency Scores
- pHI
- 0.964
- hipred
- Y
- hipred_score
- 0.853
- ghis
- 0.754
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- H
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.956
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Fgfr2
- Phenotype
- behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; respiratory system phenotype; embryo phenotype; pigmentation phenotype; neoplasm; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; vision/eye phenotype; digestive/alimentary phenotype; limbs/digits/tail phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hearing/vestibular/ear phenotype; skeleton phenotype; renal/urinary system phenotype; immune system phenotype; homeostasis/metabolism phenotype; cellular phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); endocrine/exocrine gland phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); craniofacial phenotype; muscle phenotype;
Zebrafish Information Network
- Gene name
- fgfr2
- Affected structure
- intestine
- Phenotype tag
- abnormal
- Phenotype quality
- has fewer parts of type
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;MAPK cascade;angiogenesis;ureteric bud development;in utero embryonic development;epithelial to mesenchymal transition;positive regulation of mesenchymal cell proliferation;outflow tract septum morphogenesis;membranous septum morphogenesis;endochondral bone growth;apoptotic process;transmembrane receptor protein tyrosine kinase signaling pathway;cell-cell signaling;axonogenesis;positive regulation of cell population proliferation;fibroblast growth factor receptor signaling pathway;regulation of smoothened signaling pathway;post-embryonic development;embryonic pattern specification;animal organ morphogenesis;regulation of cell fate commitment;positive regulation of phospholipase activity;morphogenesis of embryonic epithelium;peptidyl-tyrosine phosphorylation;orbitofrontal cortex development;ventricular zone neuroblast division;pyramidal neuron development;gland morphogenesis;positive regulation of Wnt signaling pathway;bone mineralization;lung development;epithelial cell differentiation;midbrain development;otic vesicle formation;hair follicle morphogenesis;response to lipopolysaccharide;lacrimal gland development;regulation of osteoblast proliferation;multicellular organism growth;organ growth;fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow cell;fibroblast growth factor receptor signaling pathway involved in hemopoiesis;fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow;fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development;phosphatidylinositol-3-phosphate biosynthetic process;regulation of multicellular organism growth;regulation of fibroblast growth factor receptor signaling pathway;wound healing;inner ear morphogenesis;odontogenesis;positive regulation of MAPK cascade;cell fate commitment;response to ethanol;regulation of osteoblast differentiation;positive regulation of cell cycle;positive regulation of transcription by RNA polymerase II;protein autophosphorylation;phosphatidylinositol phosphorylation;lung alveolus development;mesodermal cell differentiation;embryonic digestive tract morphogenesis;embryonic organ morphogenesis;digestive tract development;embryonic organ development;reproductive structure development;positive regulation of smooth muscle cell proliferation;embryonic cranial skeleton morphogenesis;skeletal system morphogenesis;epidermis morphogenesis;branching morphogenesis of a nerve;mesenchymal cell differentiation;positive regulation of epithelial cell proliferation;negative regulation of epithelial cell proliferation;regulation of smooth muscle cell differentiation;positive regulation of cell division;positive regulation of protein kinase B signaling;ventricular cardiac muscle tissue morphogenesis;positive regulation of cardiac muscle cell proliferation;limb bud formation;bone development;bone morphogenesis;branching involved in prostate gland morphogenesis;branching involved in salivary gland morphogenesis;bud elongation involved in lung branching;lung lobe morphogenesis;lung-associated mesenchyme development;positive regulation of epithelial cell proliferation involved in lung morphogenesis;prostate gland morphogenesis;prostate epithelial cord elongation;prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis;squamous basal epithelial stem cell differentiation involved in prostate gland acinus development;fibroblast growth factor receptor signaling pathway involved in mammary gland specification;lateral sprouting from an epithelium;mammary gland bud formation;epithelial cell proliferation involved in salivary gland morphogenesis;branch elongation involved in salivary gland morphogenesis;branching involved in labyrinthine layer morphogenesis;regulation of branching involved in prostate gland morphogenesis;regulation of morphogenesis of a branching structure;mesenchymal cell differentiation involved in lung development;mesenchymal cell proliferation involved in lung development;regulation of ERK1 and ERK2 cascade;positive regulation of ERK1 and ERK2 cascade;cellular response to retinoic acid;cellular response to transforming growth factor beta stimulus;positive regulation of canonical Wnt signaling pathway
- Cellular component
- nucleus;nucleoplasm;cytoplasm;Golgi apparatus;plasma membrane;integral component of plasma membrane;cell cortex;cell surface;membrane;integral component of membrane;cytoplasmic vesicle;intracellular membrane-bounded organelle;receptor complex;excitatory synapse;collagen-containing extracellular matrix
- Molecular function
- protein tyrosine kinase activity;transmembrane receptor protein tyrosine kinase activity;fibroblast growth factor-activated receptor activity;Ras guanyl-nucleotide exchange factor activity;protein binding;ATP binding;heparin binding;1-phosphatidylinositol-3-kinase activity;fibroblast growth factor binding;protein homodimerization activity;phosphatidylinositol-4,5-bisphosphate 3-kinase activity