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
298569542018Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis.0
311781262019Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders.0
313323812019Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.0

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/notch2nlc