NOTCH2NLR notch 2 N-terminal like R [Homo sapiens (human)] - Gene

Summary

Official Symbol: NOTCH2NLRprovided by HGNC
Official Full Name: notch 2 N-terminal like Rprovided by HGNC
Primary source: HGNC:HGNC:53925
See related: Ensembl:ENSG00000286106 MIM:618026; AllianceGenome:HGNC:53925
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: NOTCH2NLD
Summary: Predicted to enable calcium ion binding activity. [provided by Alliance of Genome Resources, Jun 2025]
Expression: Ubiquitous expression in skin (RPKM 4.4), testis (RPKM 3.5) and 25 other tissues See more
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Genomic context

Location:: 1p11.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (120723945..120794851)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (120737164..120808094)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1 (PATCHES)	NW_003871056.3 (795519..866425)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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General protein information

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Preferred Names: notch 2 N-terminal like R

Names: notch 2 N-terminal like R (pseudogene); notch homolog 2 N-terminal-like-related

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_001396072.1 → NP_001383001.1 notch 2 N-terminal like R precursor

Status: VALIDATED

Source sequence(s)

AC247039, AC253572

Consensus CDS

CCDS91030.1

UniProtKB/Swiss-Prot

A0A096LNW5

UniProtKB/TrEMBL

A0A494C1U9

Related

ENSP00000485259.2, ENST00000624419.3

Conserved Domains (1) summary

cd00054
Location:182 → 218

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 ...