NOTCH2NLC notch 2 N-terminal like C [Homo sapiens (human)] - Gene

Summary

Official Symbol: NOTCH2NLCprovided by HGNC
Official Full Name: notch 2 N-terminal like Cprovided by HGNC
Primary source: HGNC:HGNC:53924
See related: Ensembl:ENSG00000286219 MIM:618025; AllianceGenome:HGNC:53924
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: N2N; ETM6; NIID; OPDM3; NOTCH2NL; NOTCH2NLA
Summary: Predicted to enable calcium ion binding activity. Involved in cerebral cortex development and positive regulation of Notch signaling pathway. Located in extracellular region. Implicated in essential tremor. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis (RPKM 3.9), bone marrow (RPKM 2.8) and 25 other tissues See more
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Genomic context

Location:: 1q21.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (149390621..149471833)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (148519514..148600715)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1 (PATCHES)	NW_003871055.3 (6206034..6287246)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GGC expansions in NOTCH2NLC contribute to Parkinson disease and dopaminergic neuron degeneration.
Title: GGC expansions in NOTCH2NLC contribute to Parkinson disease and dopaminergic neuron degeneration.
Genetic spectrum and clinical features of adult leukoencephalopathies in a Chinese cohort.
Title: Genetic spectrum and clinical features of adult leukoencephalopathies in a Chinese cohort.
Clinical phenotypic diversity of NOTCH2NLC-related disease in the largest case series of inherited peripheral neuropathy in Japan.
Title: Clinical phenotypic diversity of NOTCH2NLC-related disease in the largest case series of inherited peripheral neuropathy in Japan.
NOTCH2NLC GGC Repeat Expansion in Patients With Vascular Leukoencephalopathy.
Title: NOTCH2NLC GGC Repeat Expansion in Patients With Vascular Leukoencephalopathy.
Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European Population.
Title: Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European Population.
Muscle and skin fibroblast TDP-43 expression, dynamic mutation analysis of NOTCH2NLC and C9orf72 in patients with FOSMN.
Title: Muscle and skin fibroblast TDP-43 expression, dynamic mutation analysis of NOTCH2NLC and C9orf72 in patients with FOSMN.
GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies.
Title: GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies.
NOTCH2NLC-related disorders: the widening spectrum and genotype-phenotype correlation.
Title: NOTCH2NLC-related disorders: the widening spectrum and genotype-phenotype correlation.
Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing.
Title: Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing.
Analysis of NOTCH2NLC GGC repeat expansion in Taiwanese patients with amyotrophic lateral sclerosis.
Title: Analysis of NOTCH2NLC GGC repeat expansion in Taiwanese patients with amyotrophic lateral sclerosis.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neuronal intranuclear inclusion disease MedGen: C1863843 OMIM: 603472 GeneReviews: Not available	not available
Oculopharyngodistal myopathy 3 MedGen: C5561956 OMIM: 619473 GeneReviews: Not available	not available
Tremor, hereditary essential, 6 MedGen: C5394329 OMIM: 618866 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cerebral cortex development	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of Notch signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: notch homolog 2 N-terminal-like protein C

Names: Notch homolog 2 N-terminal-like protein A

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001364012.2 → NP_001350941.1 notch homolog 2 N-terminal-like protein C isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

AC242842, AC242843

Consensus CDS

CCDS86015.1

UniProtKB/Swiss-Prot

Q5BKT8, Q5VTG9, Q5XG84, Q6P192, Q7Z3S9, Q8NC23, Q8WUQ9, Q96FY1

UniProtKB/TrEMBL

B4DF04

Related

ENSP00000498514.1, ENST00000652191.1

Conserved Domains (1) summary

cd00054
Location:143 → 179

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
NM_001364013.2 → NP_001350942.1 notch homolog 2 N-terminal-like protein C isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site at a 5' exon compared to variant 1. This difference is predicted to result in the use of an upstream start codon and an isoform (2) with a longer N-terminus compared to isoform 1.

Source sequence(s)

AC242842, AC242843

Consensus CDS

CCDS91047.1

UniProtKB/Swiss-Prot

A0A494C1K9, P0DPK4

UniProtKB/TrEMBL

A0A494C1U9

Related

ENSP00000499085.1, ENST00000650865.2

Conserved Domains (1) summary

cd00054
Location:200 → 236

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...