DNER delta/notch like EGF repeat containing [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNERprovided by HGNC
Official Full Name: delta/notch like EGF repeat containingprovided by HGNC
Primary source: HGNC:HGNC:24456
See related: Ensembl:ENSG00000187957 MIM:607299; AllianceGenome:HGNC:24456
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: bet; UNQ26
Summary: Predicted to enable Notch binding activity. Involved in central nervous system development. Located in dendrite; early endosome; and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in brain (RPKM 69.6), adrenal (RPKM 34.4) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q36.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (229357629..229714555, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (229840190..230197123, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (230222345..230579271, complement)

Chromosome 2 - NC_000002.12 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?

Co-inhibition of BET and NAE enhances BIM-dependent apoptosis with augmented cancer therapeutic efficacy.
Title: Co-inhibition of BET and NAE enhances BIM-dependent apoptosis with augmented cancer therapeutic efficacy.
BET protein-dependent E2F pathway activity confers bell-shaped type resistance to tankyrase inhibitors in APC-mutated colorectal cancer.
Title: BET protein-dependent E2F pathway activity confers bell-shaped type resistance to tankyrase inhibitors in APC-mutated colorectal cancer.
Delta/Notch-like Epidermal Growth Factor-Related Receptor (DNER), a Potential Prognostic Marker of Gastric Cancer Regulates Cell Survival and Cell Cycle Progression.
Title: Delta/Notch-like Epidermal Growth Factor-Related Receptor (DNER), a Potential Prognostic Marker of Gastric Cancer Regulates Cell Survival and Cell Cycle Progression.
Role of Delta/Notch-like EGF-related receptor in blood glucose homeostasis.
Title: Role of Delta/Notch-like EGF-related receptor in blood glucose homeostasis.
mTOR inhibition overcomes RSK3-mediated resistance to BET inhibitors in small cell lung cancer.
Title: mTOR inhibition overcomes RSK3-mediated resistance to BET inhibitors in small cell lung cancer.
Development of an intracellular quantitative assay to measure compound binding kinetics.
Title: Development of an intracellular quantitative assay to measure compound binding kinetics.
Epigenetic targeting of Waldenstrom macroglobulinemia cells with BET inhibitors synergizes with BCL2 or histone deacetylase inhibition.
Title: Epigenetic targeting of Waldenström macroglobulinemia cells with BET inhibitors synergizes with BCL2 or histone deacetylase inhibition.
Repressing MYC by targeting BET synergizes with selective inhibition of PI3Kalpha against B cell lymphoma.
Title: Repressing MYC by targeting BET synergizes with selective inhibition of PI3Kα against B cell lymphoma.
PROTAC induced-BET protein degradation exhibits potent anti-osteosarcoma activity by triggering apoptosis.
Title: PROTAC induced-BET protein degradation exhibits potent anti-osteosarcoma activity by triggering apoptosis.
Synergistic inhibition of BDs encoded in BAZ2A/B, BRD9, and BET proteins induces apoptosis of triple-negative breast cancer (TNBC) by a combinatorial suppression of ribosomal DNA transcription and ETS-regulated genes.
Title: GSK2801, a BAZ2/BRD9 Bromodomain Inhibitor, Synergizes with BET Inhibitors to Induce Apoptosis in Triple-Negative Breast Cancer.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study in American Indians implicates DNER as a susceptibility locus for type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope transmembrane glycoprotein gp41	env	A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of delta/notch-like EGF repeat containing (DNER) in peptide-treated PBMCs	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2S2297 (e-PCR), detects polymorphism
- UniSTS:51264

D2S341 (e-PCR), detects polymorphism
- UniSTS:37991

G58999 (e-PCR)
- UniSTS:136323

G44320 (e-PCR)
- UniSTS:95110

WI-11124 (e-PCR)
- UniSTS:45464

STS-AA017104 (e-PCR)
- UniSTS:52130

RH118498 (e-PCR)
- UniSTS:137893

D2S260 (e-PCR)
- UniSTS:18101

G59598 (e-PCR)
- UniSTS:136902

D2S341 (e-PCR), detects polymorphism
- UniSTS:64458

SHGC-12275 (e-PCR)
- UniSTS:64246

SHGC-84582 (e-PCR)
- UniSTS:102910

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables Notch binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	NAS Non-traceable Author Statement more info	PubMed
enables clathrin binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane signaling receptor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in Notch receptor processing	IEA Inferred from Electronic Annotation more info
involved_in Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in central nervous system development	IEP Inferred from Expression Pattern more info	PubMed
involved_in endocytosis	NAS Non-traceable Author Statement more info	PubMed
involved_in glial cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in neuron migration	NAS Non-traceable Author Statement more info	PubMed
involved_in skeletal muscle fiber development	IEA Inferred from Electronic Annotation more info
involved_in synapse assembly	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: delta and Notch-like epidermal growth factor-related receptor

Names: H_NH0150O02.1; WUGSC:H_NH0150O02.1; delta-notch-like EGF repeat-containing transmembrane

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_139072.4 → NP_620711.3 delta and Notch-like epidermal growth factor-related receptor precursor

See identical proteins and their annotated locations for NP_620711.3

Status: VALIDATED

Source sequence(s)

BC024766, BC035009, DA115906, DA400901

Consensus CDS

CCDS33390.1

UniProtKB/Swiss-Prot

A6NP39, Q53R88, Q53TP7, Q53TQ5, Q8IYT0, Q8NFT8, Q8TB42, Q9NTF1, Q9UDM2

UniProtKB/TrEMBL

A8K0I8

Related

ENSP00000345229.4, ENST00000341772.5

Conserved Domains (1) summary

cd00054
Location:581 → 617

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 ...