Gene
NOTCH2NLC
notch 2 N-terminal like C
- HGNC 53924(opens in a new tab)
- Ensembl gene ENSG00000286219(opens in a new tab)
- NCBI Gene 100996717(opens in a new tab)
Summary
- Cytogenetic location
- 1q21.2
- Coordinates
- Chromosome 1: 149,390,621–149,471,833 (GRCh38)
- Exons
- 5 exons across 81.2 kb
- Protein
- 293 amino acids
- MANE Select transcript
- ENST00000650865.2NM_001364013.2
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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How NOTCH2NLC is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 8.7 kb of the gene's 81.2 kb; 882 of those bases code for the protein.
Traits linked to NOTCH2NLC
The Human Phenotype Ontology lists these as features of the rare conditions NOTCH2NLC can cause. Each trait's page lists the other genes linked to it.
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
Show 22 more traits
- 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
Show 12 more traits
- 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
Show 2 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Cite this page
Dante Labs. (n.d.). NOTCH2NLC gene: notch 2 N-terminal like C. Retrieved 16 October 2026, from https://dantelabs.com/genes/notch2nlc
Dante Labs. NOTCH2NLC gene: notch 2 N-terminal like C [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/notch2nlc
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