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PRNT prion locus lncRNA, testis expressed [ Homo sapiens (human) ]

Gene ID: 149830, updated on 10-Oct-2023

Summary

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Official Symbol
PRNTprovided by HGNC
Official Full Name
prion locus lncRNA, testis expressedprovided by HGNC
Primary source
HGNC:HGNC:18046
See related
Ensembl:ENSG00000180259 AllianceGenome:HGNC:18046
Gene type
ncRNA
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
M8
Summary
Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 3.5) See more
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Genomic context

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Location:
20p13
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (4731282..4740668, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (4770500..4779874, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (4711928..4721314, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:4666899-4667840 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:4667841-4668780 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:4679719-4680955 Neighboring gene prion protein (Kanno blood group) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:4690405-4690906 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:4693569-4694768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17495 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17496 Neighboring gene prion like protein doppel Neighboring gene IDI1 pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 7998 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12646 Neighboring gene uncharacterized LOC105372511 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:4760952-4761170 Neighboring gene Ras association domain family member 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:4775280-4776140 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:4776141-4777001 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12647 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17498 Neighboring gene uncharacterized LOC107985392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17499 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17501

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Genomic assessment of the evolution of the prion protein gene family in vertebrates. Harrison PM, et al. Genomics, 2010 May. PMID 20206252
  2. Polymorphic microsatellite sites in the PRNP region point to excess of homozygotes in Creutzfeldt-Jakob disease patients. Geldermann H, et al. Gene, 2006 Nov 1. PMID 16889908
  3. Genomic characterization of the human prion protein (PrP) gene locus. Makrinou E, et al. Mamm Genome, 2002 Dec. PMID 12514748
  4. Comparative genomic organization of the human and bovine PRNP locus. Choi SH, et al. Genomics, 2006 May. PMID 16460908
  5. Evolution of vertebrate genes related to prion and Shadoo proteins--clues from comparative genomic analysis. Premzl M, et al. Mol Biol Evol, 2004 Dec. PMID 15342797

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: Polymorphic microsatellite sites in the PRNP region point to excess of homozygotes in Creutzfeldt-Jakob disease patients.
Submit: New GeneRIF Correction

Phenotypes

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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)

Genotypes

General gene information

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Markers

Other Names

  • prion protein (testis specific)

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  

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.

RNA

  1. NR_024267.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript.
    Source sequence(s)
    AJ427540, AL133396
    Related
    ENST00000326539.6

  2. NR_024268.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site at the 5' end, compared to variant 1.
    Source sequence(s)
    AJ427539, AL133396
    Related
    ENST00000423718.2

  3. NR_024269.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site at the 5' end, compared to variant 1.
    Source sequence(s)
    AL133396, AL137296
    Related
    ENST00000418528.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    4731282..4740668 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    4770500..4779874 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_177549.2: Suppressed sequence

    Description
    NM_177549.2: This RefSeq was permanently suppressed because it is now thought that this gene does not encode a protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86SH4.1 GenPept UniProtKB/Swiss-Prot:Q86SH4

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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Research Materials
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