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, Apr 2022]
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_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (120723945..120794851)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (120737164..120808094)
105.20220307	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:

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?

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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 (pseudogene)

Names: 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 (pseudogene) 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 ...