NOTCH2NLC - notch 2 N-terminal like C Gene

Homo sapiens

Also known as N2N; ETM6; NIID; OPDM3; NOTCH2NL; NOTCH2NLA

Gene ID: 100996717 | Gene type: protein coding

About NOTCH2NLC

Cytogenetic location: 1q21.2 Genomic coordinates (GRCh38): 1:149,390,621-149,471,833 (from NCBI)

This gene has 3 transcripts (splice variants), 121 orthologues, 7 paralogues and is associated with 5 phenotypes. Ubiquitous expression in testis (RPKM 3.9), bone marrow (RPKM 2.8) and 25 other tissues.

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]

NOTCH2NLC Products(2)

mRNA	Protein	Name
NM_001364012.2	NP_001350941.1	notch homolog 2 N-terminal-like protein C isoform 1
NM_001364013.2	NP_001350942.1	notch homolog 2 N-terminal-like protein C isoform 2

Protein Preferred Names

Protein Names

notch homolog 2 N-terminal-like protein C

Notch homolog 2 N-terminal-like protein A

Related Diseases

Diseases

Alias

Neuronal Intranuclear Inclusion Disease

NIID	Neuronal Intranuclear Hyaline Inclusion Disease

Tremor, Hereditary Essential, 6

ETM6	Tremor, Hereditary Essential 6
Tremor, Hereditary Essential, Type 6

Oculopharyngodistal Myopathy 3

OPDM3

Myopathy, Oculopharyngodistal, Type 3

Oculopharyngodistal Myopathy 1

Oculopharyngodistal Myopathy	Opdm
OPDM1	Faciooculolaryngopharyngeal Myopathy With Distal And Respiratory Involvement
Folp-Dr	Oculopharyngeal Distal Myopathy
Myopathy, Oculopharyngodistal	Myopathy, Oculopharyngodistal, Type 1

Essential Tremor

Benign Essential Tremor	Familial Tremor
Hereditary Essential Tremor	Essential Hereditary Tremor
Shaky Hand Syndrome	Benign Essential Tremor Syndrome
Tremor Hereditary Essential	Essential Tremor, Susceptibility To
Tremor, Hereditary Essential

Tremor

Medicament-Induced Tremor

Medication-Induced Postural Tremor

Myopathy

Muscular Diseases

Myopathies

Ptosis

Blepharoptosis	Drooping Eyelid
Droopy Eyelid	Ptosis Of Eyelid
Paralysis Of Levator Palpebrae Superioris

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09450	NOTCH2NLC Human Pre-designed siRNA Set A		/	Unkown

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