Gen
FGFR2
fibroblast growth factor receptor 2
- HGNC 3689(åbnes i en ny fane)
- Ensembl-gen ENSG00000066468(åbnes i en ny fane)
- NCBI Gene 2263(åbnes i en ny fane)
Oversigt
- Cytogenetisk placering
- 10q26.13
- Koordinater
- Kromosom 10: 121.478.332–121.598.444 (GRCh38)
- Exoner
- 18 exoner fordelt over 120,1 kb
- Protein
- 821 aminosyrer
- Også kendt som
- CEK3, TK14, TK25, ECT1, K-SAM, CD332
- Tidligere symboler
- KGFR, BEK, CFD1, JWS
- MANE Select-transkript
- ENST00000358487.10NM_000141.5
- Lokustype
- gene with protein product
- Meget høj
- Sikker
- Lav
- Meget lav
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome TestKurateret rapport relevant for dette gen
Syndromisk kraniosynostose
Tilstande, der kombinerer for tidlig lukning af kranie-sømme med andre træk, herunder Apert-, Crouzon-, Pfeiffer-, Muenke- og Saethre-Chotzen-syndromerne, forårsaget af gener som FGFR2, FGFR3, FGFR1, TWIST1, TCF12 og ERF.
- ClinGen vurderer forbindelsen som definitivt
- 6 GenCC-indsendere vurderer den som definitiv eller stærk
Hvad viden ændrer
Tidlig diagnose giver mulighed for rettidig operation og overvågning af hovedets vækst, syn og hørelse; mildere former såsom Muenke-syndrom kan blive uopdaget hos voksne, hvilket er relevant for familieplanlægning.
Sådan er FGFR2 opbygget
- Kodende sekvens
- Utranslateret region
- Intron
- Transkriptionsretning
- Kendte sygdomsfremkaldende steder
- Regioner, som korte læsninger har svært ved
Eksoner i genets MANE Select-transkript (udgave v1.5), fra NCBI og EMBL-EBI, på referencegenomet GRCh38.
Kromosombånd fra UCSC's GRCh38-ideogram (2022-10-29).
Gener i nærheden fra Ensembl-udgivelse 116, på GRCh38.
Eksoner udgør 4,6 kb af genets 120,1 kb; 2.466 af disse baser koder for proteinet.
Sådan læser en genomtest FGFR2
56
positioner i FGFR2, hvor ClinVar klassificerer en ændring som patogen eller sandsynligvis patogen
Ingen af dem ligger i en region, som korte læsninger har svært ved.
En helgenomsanalyse dækker alle 120,1 kb af FGFR2, inklusive introner, og ikke kun de 4,6 kb eksoner.
Træk knyttet til FGFR2
Human Phenotype Ontology angiver disse som kendetegn ved de sjældne tilstande, FGFR2 kan forårsage. Hvert træks side viser de andre gener, der er knyttet til det.
Abnormality of head or neck
- Beaked nose
- Bifid uvula
- Born with teeth
- Cloverleaf cranium shape
- Coronal craniosynostosis
- Crease in skin under the eye
- Deformity of the skull
- Depressed nasal bridge
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- Deviated nasal septum
- Downward slanting of the opening between the eyelids
- Flat back of skull
- Flattened bony protrusion above eyes
- Frontal bossing
- Furrows in thickened skin on top of scalp
- Gum enlargement
- High palate
- High, prominent forehead
- Midface retrusion
- Narrow mouth
- Narrow palate
- Narrowing of the rear opening of the nasal cavity
- Nasal tip, upturned
- Pit in front of the ear
- Preauricular skin groove
- Prominent forehead
- Prominent nasal bridge
- Redundant neck skin
- Soft skullcap
- Wide fontanelles
- Abnormal dentition
- Abnormal facial shape
- Abnormality of the face
- Abnormality of the skull
- Acrobrachycephaly
- Bad bite
- Bicoronal synostosis
- Big calvaria
- Blockage of the rear opening of the nasal cavity
- Broad forehead
- Broad head shape
- Cheekbone underdevelopment
- Decreased number of teeth
- Decreased size of maxilla
- Dental crowding
- Depression of frontal cranial suture
- Facial asymmetry
- Flat face
- High forehead
- Little lower jaw
- Long, narrow head
- Multiple suture craniosynostosis
- Short nose
- Tall shaped head
- Zygomatic flattening
- Abnormal lacrimal duct morphology
- Abnormal lacrimal gland morphology
- Abnormal tooth enamel
- Abnormality of the palate
- Abnormality of the salivary glands
- Absent lacrimal punctum
- Asymmetry of the posterior head
- Big lower jaw
- Decreased depth of eye sockets
- Decreased salivary flow
- Decreased size of tooth
- Delayed cranial suture closure
- Delayed eruption of teeth
- Dental cavities
- Dry eye syndrome
- Early closure of midline skull joint
- Eyelid spasm
- Failure of development of between one and six teeth
- Lambdoidal craniosynostosis
- Low frontal hairline
- Narrowing of the tear duct
- Open bite
- Pink eye
- Thin red part of the upper lip
- Absent tear duct
- Absent tear gland
- Cleft palate
- Cone shaped front tooth
- Corners of eye widely separated
- Eye folds
- Holes in parietal bones
- Hypoplasia of the lacrimal punctum
- Keratoconjunctivitis
- Thin dental enamel
- Triangular head shape
- Upward slanting of the opening between the eyelids
- Cleft of the mouth
- Lost smell
- Abnormal nasolacrimal system morphology
- Absence of Stensen duct
- Aplasia of the parotid gland
- Blocked tear duct
- Cleft of chin
- Craniofacial dysostosis
- Dacryocystitis
- Delayed eruption of baby teeth
- Flat forehead
- Fullness around the eyes
- Long nose
- Long philtrum
- Narrow nose
- Oxycephaly
- Posterior fossa cyst
- Skull asymmetry
- Underdeveloped tear duct
- Underdeveloped tear gland
- Wider-than-typical soft spot of skull
Abnormality of limbs
- Broad big toe
- Excessive wrinkled skin of palms and soles
- Finger syndactyly
- Overlapping toe
- Webbed fingers
- Webbed skin of toes
- Abnormal thumb placement
- Absent/small thumb
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- Broad bone of big toe
- Broad thumb
- Curvature of little finger
- Fused toes
- Hallux varus
- Palmoplantar cutis gyrata
- Short big toe
- Short fingers or toes
- Short long bone of foot
- Steep acetabular roof
- Thickening of palms and soles
- Wide 1st long bone of foot
- Wide long bone of foot
- Abnormality of fingers or toes
- Bilateral single transverse palmar creases
- Broad innermost bone of the big toe
- Broad outermost bone of big toe
- Cutaneous syndactyly
- Limited elbow movement
- Partial duplication of the thumb bones
- Rhizomelic arm shortening
- Short 1st long bone of foot
- Short foot
- Short palm
- Short thumb
- Small hand
- Webbed 2nd and 3rd toes
- Webbed fingers or toes
- 3-4 toe cutaneous syndactyly
- Abnormality of the calf bone
- Abnormality of the lower limb
- Abnormality of the thumb
- Absent thumb
- Bowed legs
- Broad toe
- Bunion
- Calcaneonavicular fusion
- Curvature of digit
- Duplication of the outermost bone of big toe
- Duplication of thumb phalanx
- Extra little finger
- Extra thumb
- Finger-like thumb
- Fused finger bones
- Fused forearm bones
- Preaxial foot polydactyly
- Proximal radio-ulnar synostosis
- Smaller or shorter than typical limbs
- Split foot
- Underdeveloped outer large forearm bone
- Absent 1st long bone of foot
- Absent innermost thumb bone
- Bilateral triphalangeal thumbs
- Bowed thighbone
- Broad distal hallux
- Broad outermost bone of the thumb
- Curving of inner forearm bone
- Elbow ankylosis
- Fusion of upper and lower arm bones
- Fusion of wrist bones
- Inward turned middle finger
- Limited elbow extension
- Long slender fingers
- Missing outer large bone of forearm
- Notched outermost bone of the index finger
- Notched outermost bone of the middle finger
- Preaxial polydactyly
- Rocker bottom foot
- Short middle bones (feet)
- Shortening of all middle phalanges of the fingers
- Small thenar eminence
- Underdeveloped inner large forearm bone
- Webbed 2nd-3rd fingers
Abnormality of the eye
- Bulging eye
- Drooping upper eyelid
- Exodeviation
- Increased size of eyes
- Optic atrophy
- Wide-set eyes
- Enlarged cornea
- Night blindness since birth
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- Abnormality of the eye
- Absence of tears in the eyes
- Close sighted
- Cross-eyed
- Increased tears
- Abnormality of vision
- Abnormally close eyes
- Anisometropia
- Cat eye
- Corneal ulceration
- Damage to outer layer of the cornea of the eye
- Decreased corneal sensation
- Lazy eye
- Limbal stem cell deficiency
- New blood vessel formation in cornea
- Recurrent breakdown of clear protective layer of eye
- Visual impairment
- Visual loss
- Increased corneal thickness
- Open angle glaucoma
- Outward facing eye ball
- Corneal inflammation
- Corneal perforation
- Enlarged eyeball
Abnormality of the musculoskeletal system
- Bent long bone
- Hypoplastic pubic bone
- Short collarbone
- Abnormal periosteum morphology
- Bell-shaped thorax
- Hypoplastic ischia
- Incomplete maturation of the pubic bone
- Limitation of joint mobility
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- Osteopenia
- Cervical C5/C6 vertebrae fusion
- Delayed maturation of end part of long bone
- Pigeon chest
- Prominent swayback
- Vertebral segmentation defect
- Abnormal sacrum morphology
- Abnormal vertebral body morphology
- Scoliosis
- Arthritis
- Abnormal cervical spine
- Abnormal shape of pelvic girdle bone
- Cervical C6/C7 vertebrae fusion
- Flexed joint that cannot be straightened
- Glenoid dysplasia
- Narrow chest
- Narrow pelvis bone
- Permanent flexion of the finger or toe
Abnormality of the ear
- Absent ear canal
- Conductive deafness
- Cupped ear
- Ears rotated toward back of head
- Hearing impairment
- Abnormality of the outer ear
- Absent/small ear lobes
- Hearing abnormality
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- Large ears
- Low-set ears
- Narrow ear canal
- Overfolding of the superior helices
- Abnormal antihelix morphology
- Abnormal semicircular canal morphology
- Abnormally shaped ears
- Chronic infections of the middle ear
- Narrow internal auditory canal
- Prominent crus of helix
- Small ears
- Middle ear infection
- Mixed hearing impairment
- Sensorineural hearing impairment
- Thickened helices
Abnormality of the nervous system
- Chiari malformation
- Global developmental delay
- Too much cerebrospinal fluid in the brain
- Ventriculomegaly
- Aqueductal stenosis
- Absent septum pellucidum
- Agenesis of corpus callosum
- Epilepsy
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- Intellectual disability
- Intellectual disability, mild
- Rise in pressure inside skull
- Small cerebellum
- Fluid-filled sac located in membrane surrounding brain or spinal cord
- Headache
- IQ between 34 and 49
- Migraine
- Pauses in breathing while sleeping
- Abnormal morphology of the limbic system
- Chiari type I malformation
- Enlarged brain
Abnormality of the respiratory system
- Tracheal cartilaginous sleeve
- Breathing difficulties
- Floppy windpipe
- Softening of voice box tissue
- Obstructive lung disease
- Respiratory function loss
- Hypoplasia of the epiglottis
- Anomalous tracheal cartilage
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Abnormality of the cardiovascular system
- High blood pressure
- Visceral angiomatosis
- Abnormal cardiovascular system morphology
- Abnormality of the heart
- Enlarged liver and spleen
- Patent ductus arteriosus
- An opening in the wall separating the top two chambers of the heart
- Hole in heart wall separating two lower heart chambers
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Eksterne links
Genposter
Transkript
Protein
Hvor oplysningerne kommer fra
- HGNC: genets symbol, navn, andre symboler og placering.
- MANE Select v1.5, fra NCBI og EMBL-EBI: transkriptet, dets exoner og kodende sekvens.
- GenCC og ClinGen, udgivet 2026-10-16: hvilke sygdomme genet er knyttet til, og hvor stærkt.
- ACMG-listen over sekundære fund, SF v3.2.
- ClinVar og GIAB-stratifikationerne: kendte sygdomsfremkaldende positioner og de regioner, som korte læsninger har svært ved at aflæse.
- Human Phenotype Ontology, version 2026-09-01: de træk, der er knyttet til genet. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Citér denne side
Dante Labs. (u.d.). FGFR2-genet: fibroblast growth factor receptor 2. Hentet 16. oktober 2026, fra https://dantelabs.com/da/genes/fgfr2
Dante Labs. FGFR2-genet: fibroblast growth factor receptor 2 [Internet]. [citeret 16. oktober 2026]. Tilgængelig fra: https://dantelabs.com/da/genes/fgfr2
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger