NOTCH2NLC (notch 2 N-terminal like C)

2018-11-01  

Identity

HGNC
NOTCH2NLC
LOCATION
1q21.2
LOCUSID
100996717
ALIAS
ETM6,N2N,NIID,NOTCH2NL,NOTCH2NLA

Other Information

Locus ID:

NCBI: 100996717
MIM: 618025
HGNC: 53924
Ensembl: ENSG00000286219

Variants:

dbSNP: 100996717
ClinVar: 100996717
TCGA: ENSG00000286219
COSMIC: NOTCH2NLC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000286219ENST00000578189P0DPK4
ENSG00000286219ENST00000650865A0A494C1K9
ENSG00000286219ENST00000652191P0DPK4

References

Pubmed IDYearTitleCitations
379757992024GGC expansions in NOTCH2NLC contribute to Parkinson disease and dopaminergic neuron degeneration.1
386672922024Investigating Repeat Expansions in NIPA1, NOP56, and NOTCH2NLC Genes: A Closer Look at Amyotrophic Lateral Sclerosis Patients from Southern Italy.0
379757992024GGC expansions in NOTCH2NLC contribute to Parkinson disease and dopaminergic neuron degeneration.1
386672922024Investigating Repeat Expansions in NIPA1, NOP56, and NOTCH2NLC Genes: A Closer Look at Amyotrophic Lateral Sclerosis Patients from Southern Italy.0
369425882023NOTCH2NLC GGC Repeat Expansion in Patients With Vascular Leukoencephalopathy.1
369485772023Clinical phenotypic diversity of NOTCH2NLC-related disease in the largest case series of inherited peripheral neuropathy in Japan.1
372374292023Genetic spectrum and clinical features of adult leukoencephalopathies in a Chinese cohort.1
369425882023NOTCH2NLC GGC Repeat Expansion in Patients With Vascular Leukoencephalopathy.1
369485772023Clinical phenotypic diversity of NOTCH2NLC-related disease in the largest case series of inherited peripheral neuropathy in Japan.1
372374292023Genetic spectrum and clinical features of adult leukoencephalopathies in a Chinese cohort.1
346751062022GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies.10
346751232022NOTCH2NLC-related disorders: the widening spectrum and genotype-phenotype correlation.9
358668872022Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European Population.2
359741222022Muscle and skin fibroblast TDP-43 expression, dynamic mutation analysis of NOTCH2NLC and C9orf72 in patients with FOSMN.1
346751062022GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies.10

Citation

Dessen P

NOTCH2NLC (notch 2 N-terminal like C)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/80366/js/lib/haematological-explorer/