Human Gene PRND (uc002wkz.3) Description and Page Index
  Description: Homo sapiens prion protein 2 (dublet) (PRND), mRNA.
RefSeq Summary (NM_012409): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC043644.2, SRR5189667.150419.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000305817.3/ ENSP00000306900.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr20:4,702,556-4,709,106 Size: 6,551 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg19 chr20:4,705,198-4,705,728 Size: 531 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr20:4,702,556-4,709,106)mRNA (may differ from genome)Protein (176 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Prion-like protein doppel; AltName: Full=PrPLP; AltName: Full=Prion protein 2; Flags: Precursor;
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor (By similarity).
TISSUE SPECIFICITY: Expressed in testis.
SIMILARITY: Belongs to the prion family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PRND
CDC HuGE Published Literature: PRND
Positive Disease Associations: Creutzfeldt-Jakob disease , smoking cessation
Related Studies:
  1. Creutzfeldt-Jakob disease
    Jeong, B. H. et al. 2005, Polymorphism at 3' UTR +28 of the prion-like protein gene is associated with sporadic Creutzfeldt-Jakob disease., European journal of human genetics. 2005 Sep;13(9):1094-7. [PubMed 15986038]
  2. smoking cessation
    Uhl ,et al. Pharmacogenomics 2010, Genome-wide association for smoking cessation success: participants in the Patch in Practice trial of nicotine replacement , Pharmacogenomics 2010 11- 3 : 357-67. [PubMed 20235792]

-  MalaCards Disease Associations
  MalaCards Gene Search: PRND
Diseases sorted by gene-association score: creutzfeldt-jakob disease (35), prion disease (20), scrapie (19), insomnia, fatal familial (9), astrocytoma (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 64.85 RPKM in Testis
Total median expression: 67.40 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -26.2071-0.369 Picture PostScript Text
3' UTR -1022.343378-0.303 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR021566 - Doppel
IPR022416 - Prion/Doppel_prot_b-ribbon_dom

Pfam Domains:
PF00377 - Prion/Doppel alpha-helical domain
PF11466 - Prion-like protein Doppel

SCOP Domains:
54098 - Prion-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help


ModBase Predicted Comparative 3D Structure on Q9UKY0
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005507 copper ion binding
GO:0046872 metal ion binding

Biological Process:
GO:0006878 cellular copper ion homeostasis
GO:0007338 single fertilization
GO:0007340 acrosome reaction
GO:0051260 protein homooligomerization

Cellular Component:
GO:0005576 extracellular region
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0031225 anchored component of membrane
GO:0031362 anchored component of external side of plasma membrane

-  Descriptions from all associated GenBank mRNAs
  AK313404 - Homo sapiens cDNA, FLJ93940, Homo sapiens prion gene complex, downstream (PRND), mRNA.
BC043644 - Homo sapiens prion protein 2 (dublet), mRNA (cDNA clone MGC:41841 IMAGE:5272576), complete cds.
AF187843 - Homo sapiens doppel protein (PRND) mRNA, partial cds.
AY358985 - Homo sapiens clone DNA87991 PRND (UNQ1830) mRNA, complete cds.
AF187844 - Homo sapiens prion-like protein (PRND) mRNA, complete cds.
JD290578 - Sequence 271602 from Patent EP1572962.
CU692184 - Synthetic construct Homo sapiens gateway clone IMAGE:100020807 5' read PRND mRNA.
HQ448044 - Synthetic construct Homo sapiens clone IMAGE:100071420; CCSB010476_04 prion protein 2 (dublet) (PRND) gene, encodes complete protein.
KJ898525 - Synthetic construct Homo sapiens clone ccsbBroadEn_07919 PRND gene, encodes complete protein.
JD201595 - Sequence 182619 from Patent EP1572962.
JD067100 - Sequence 48124 from Patent EP1572962.
JD530526 - Sequence 511550 from Patent EP1572962.
JD367002 - Sequence 348026 from Patent EP1572962.
JD164673 - Sequence 145697 from Patent EP1572962.
JD049439 - Sequence 30463 from Patent EP1572962.
JD308558 - Sequence 289582 from Patent EP1572962.
JD065287 - Sequence 46311 from Patent EP1572962.
JD069065 - Sequence 50089 from Patent EP1572962.
JD296066 - Sequence 277090 from Patent EP1572962.
JD161174 - Sequence 142198 from Patent EP1572962.
JD363573 - Sequence 344597 from Patent EP1572962.
JD548405 - Sequence 529429 from Patent EP1572962.
JD121442 - Sequence 102466 from Patent EP1572962.
JD553616 - Sequence 534640 from Patent EP1572962.
JD563433 - Sequence 544457 from Patent EP1572962.
JD507790 - Sequence 488814 from Patent EP1572962.
JD286193 - Sequence 267217 from Patent EP1572962.
JD562136 - Sequence 543160 from Patent EP1572962.
JD293303 - Sequence 274327 from Patent EP1572962.
JD142117 - Sequence 123141 from Patent EP1572962.
JD454970 - Sequence 435994 from Patent EP1572962.
JD536725 - Sequence 517749 from Patent EP1572962.
JD252507 - Sequence 233531 from Patent EP1572962.
JD207718 - Sequence 188742 from Patent EP1572962.
JD285606 - Sequence 266630 from Patent EP1572962.
JD455935 - Sequence 436959 from Patent EP1572962.
JD385843 - Sequence 366867 from Patent EP1572962.
JD111224 - Sequence 92248 from Patent EP1572962.
JD321606 - Sequence 302630 from Patent EP1572962.
JD284624 - Sequence 265648 from Patent EP1572962.
JD150164 - Sequence 131188 from Patent EP1572962.
JD334035 - Sequence 315059 from Patent EP1572962.
JD186287 - Sequence 167311 from Patent EP1572962.
JD068197 - Sequence 49221 from Patent EP1572962.
JD320401 - Sequence 301425 from Patent EP1572962.
JD378642 - Sequence 359666 from Patent EP1572962.
JD043523 - Sequence 24547 from Patent EP1572962.
JD140534 - Sequence 121558 from Patent EP1572962.
JD081718 - Sequence 62742 from Patent EP1572962.
JD551768 - Sequence 532792 from Patent EP1572962.
JD360197 - Sequence 341221 from Patent EP1572962.
JD542840 - Sequence 523864 from Patent EP1572962.
JD212835 - Sequence 193859 from Patent EP1572962.
AF086354 - Homo sapiens full length insert cDNA clone ZD63E04.
JD249163 - Sequence 230187 from Patent EP1572962.
JD086412 - Sequence 67436 from Patent EP1572962.
JD121114 - Sequence 102138 from Patent EP1572962.
JD381331 - Sequence 362355 from Patent EP1572962.
JD381332 - Sequence 362356 from Patent EP1572962.
JD344129 - Sequence 325153 from Patent EP1572962.
JD356529 - Sequence 337553 from Patent EP1572962.
JD552358 - Sequence 533382 from Patent EP1572962.
JD242673 - Sequence 223697 from Patent EP1572962.
JD342229 - Sequence 323253 from Patent EP1572962.
JD480476 - Sequence 461500 from Patent EP1572962.
JD435401 - Sequence 416425 from Patent EP1572962.
JD506290 - Sequence 487314 from Patent EP1572962.
JD232899 - Sequence 213923 from Patent EP1572962.
JD145213 - Sequence 126237 from Patent EP1572962.
JD280737 - Sequence 261761 from Patent EP1572962.
JD231043 - Sequence 212067 from Patent EP1572962.
JD096646 - Sequence 77670 from Patent EP1572962.
JD326213 - Sequence 307237 from Patent EP1572962.
JD292958 - Sequence 273982 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UKY0 (Reactome details) participates in the following event(s):

R-HSA-8940388 GPLD1 hydrolyses GPI-anchors from proteins
R-HSA-163125 Post-translational modification: synthesis of GPI-anchored proteins
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: A7U7M5, DPL, NM_012409, NP_036541, PRND_HUMAN, Q9H311, Q9H312, Q9NTM4, Q9UKY0, UNQ1830/PRO3443
UCSC ID: uc002wkz.3
RefSeq Accession: NM_012409
Protein: Q9UKY0 (aka PRND_HUMAN)
CCDS: CCDS13081.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_012409.2
exon count: 2CDS single in 3' UTR: no RNA size: 4047
ORF size: 531CDS single in intron: no Alignment % ID: 99.97
txCdsPredict score: 1262.00frame shift in genome: no % Coverage: 98.34
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.