Gen
NOTCH2NLC
notch 2 N-terminal like C
- HGNC 53924↗(åbnes i en ny fane)
- Ensembl-gen ENSG00000286219↗(åbnes i en ny fane)
- NCBI Gene 100996717↗(åbnes i en ny fane)
Oversigt
- Cytogenetisk placering
- 1q21.2
- Koordinater
- Kromosom 1: 149.390.621–149.471.833 (GRCh38)
- Exoner
- 5 exoner fordelt over 81,2 kb
- Protein
- 293 aminosyrer
- MANE Select-transkript
- ENST00000650865.2NM_001364013.2
- Lokustype
- gene with protein product
- Meget høj
- Sikker
- Lav
- Meget lav
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Sådan er NOTCH2NLC opbygget
- Kodende sekvens
- Utranslateret region
- Intron
- Transkriptionsretning
- 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 8,7 kb af genets 81,2 kb; 882 af disse baser koder for proteinet.
Træk knyttet til NOTCH2NLC
Human Phenotype Ontology angiver disse som kendetegn ved de sjældne tilstande, NOTCH2NLC kan forårsage. Hvert træks side viser de andre gener, der er knyttet til det.
Abnormality of the nervous system
- Decreased reflex response
- Difficulty articulating speech
- Abnormal speech pattern
- Abnormality of movement
- Ataxia
- Breathy speech
- Decreased motor nerve conduction velocity
- Leukoencephalopathy
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- Ventriculomegaly
- Behavioral abnormality
- Cognitive impairment
- Decreased sensory nerve conduction velocity
- Dementia
- EEG abnormality
- Epilepsy
- Head tremor
- Increased reflexes
- Loss of consciousness
- Spina bifida occulta
- Weakness of the vocal cords
- Abnormal gait
- Absent reflexes
- CSF pleocytosis
- Loss of ability to walk
- Tremor
- Vocal tremor
- Leg paralysis
- Kinetic tremor
- Postural tremor
- Somatic sensory dysfunction
Abnormality of the musculoskeletal system
- Increased endomysial connective tissue
- Increased variability in muscle fiber diameter
- Rimmed vacuoles
- EMG abnormality
- Abnormal morphology of musculature of pharynx
- Abnormal vertebral body morphology
- Decreased lung function due to weak breathing muscles
- Distal lower limb amyotrophy
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- Distal muscle wasting
- Muscle weakness
- Neck muscle weakness
- Progressive distal muscle weakness
- Scoliosis
- Spasticity and rigidity of muscles
- Diffuse skeletal muscle wasting
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
- Fatigable weakness of bulbar muscles
- Internally nucleated skeletal muscle fibers
- Progressive proximal muscle weakness
- Rigidity
Abnormality of the eye
- Drooping upper eyelid
- Eye muscle paralysis
- Progressive drooping of upper eyelid
- Progressive external ophthalmoplegia
- Weakness of muscles controlling eye movement
- Constricted pupils
- Involuntary, rapid, rhythmic eye movements
- Extreme sensitivity of the eyes to light
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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.
- Human Phenotype Ontology, version 2026-09-01: de træk, der er knyttet til genet. Læs mere på hpo.jax.org.
Citér denne side
Dante Labs. (u.d.). NOTCH2NLC-genet: notch 2 N-terminal like C. Hentet 17. oktober 2026, fra https://dantelabs.com/da/genes/notch2nlc
Dante Labs. NOTCH2NLC-genet: notch 2 N-terminal like C [Internet]. [citeret 17. oktober 2026]. Tilgængelig fra: https://dantelabs.com/da/genes/notch2nlc
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger