PRND prion like protein doppel [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRNDprovided by HGNC
Official Full Name: prion like protein doppelprovided by HGNC
Primary source: HGNC:HGNC:15748
See related: Ensembl:ENSG00000171864 MIM:604263; AllianceGenome:HGNC:15748
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DPL; PrPLP; DOPPEL; dJ1068H6.4
Summary: This gene is found on chromosome 20, approximately 20 kbp downstream of the gene encoding cellular prion protein, to which it is biochemically and structurally similar. The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that is found predominantly in testis. Mutations in this gene may lead to neurological disorders. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward testis (RPKM 54.6) See more
Orthologs: all
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Genomic context

Location:: 20p13

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (4721909..4728460)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (4761119..4767678)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (4702555..4709106)

Chromosome 20 - NC_000020.11 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?

results demonstrate that blocking doppel can control VEGF signaling in TECs and selectively inhibit tumor angiogenesis.
Title: Targeting prion-like protein doppel selectively suppresses tumor angiogenesis.
The association between the APOE, CYP46, PRNP and PRND genes and the profile of neuropsychiatric symptoms in Polish subjects with Alzheimer's disease and mild cognitive impairment, was evaluated.
Title: PRND 3'UTR polymorphism may be associated with behavioral disturbances in Alzheimer disease.
in astrocytomas, Dpl undergoes different molecular processes that might constitute additional helpful tools to characterize the glial tumor progression
Title: Biochemical signatures of doppel protein in human astrocytomas to support prediction in tumor malignancy.
Cytotoxicity induced by the expression of Dpl and truncated PrP in neural derived cells are closely related with the apoptosis process.
Title: Transient expressions of doppel and its structural analog prionDelta32-121 in SH-SY5Y cells caused cytotoxicity possibly by triggering similar apoptosis pathway.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
From the logistic regression ananlsis of this stidy showed that the highest risk for was found for Alzheimer's disease individuals who co-inherited APOE epsilon4 allele, PRNP codon 129 homozygosity, PRND codon 174 Thr allele, and CYP46 rs754203 g allele.
Title: Earlier onset of Alzheimer's disease: risk polymorphisms within PRNP, PRND, CYP46, and APOE genes.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Earlier onset of Alzheimer's disease: risk polymorphisms within PRNP, PRND, CYP46, and APOE genes.
results suggested that the function of Dpl is antagonistic to PrP rather than synergistic
Title: Doppel-induced cytotoxicity in human neuronal SH-SY5Y cells is antagonized by the prion protein.
Results might suggest a potential and functional role for Dpl in tumor cells migratory and morphological behaviours and address to future gene-targeted therapeutic interventions.
Title: The doppel (Dpl) protein influences in vitro migration capability in astrocytoma-derived cells.
Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
Title: Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease.

Submit: New GeneRIF Correction See all GeneRIFs (20)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S1423 (e-PCR)
- UniSTS:149619

RH103660 (e-PCR)
- UniSTS:97985

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables copper ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables copper ion binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in acrosome reaction	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular copper ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein homooligomerization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in external side of plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular region	TAS Traceable Author Statement more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: prion-like protein doppel

Names: downstream prion protein-like; prion gene complex, downstream; prion protein 2 (dublet)

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.