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PRNP (prion protein (Kanno blood group))
Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5621
Gene nameGene Name - the full gene name approved by the HGNC.
Prion protein (Kanno blood group)
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PRNP
SynonymsGene synonyms aliases
ASCR, AltPrP, CD230, CJD, GSS, KURU, PRIP, PrP, PrP27-30, PrP33-35C, PrPc, p27-30
ChromosomeChromosome number
20
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20p13
SummarySummary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is foun
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs1799990 A>G Risk-factor, pathogenic, benign Missense variant, coding sequence variant, 3 prime UTR variant
rs11538758 C>A,T Pathogenic Missense variant, coding sequence variant, 3 prime UTR variant
rs17852079 C>A,T Pathogenic Missense variant, coding sequence variant, 3 prime UTR variant, stop gained
rs28933385 G>A Pathogenic Missense variant, coding sequence variant, 3 prime UTR variant
rs74315401 C>T Pathogenic Coding sequence variant, missense variant, synonymous variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT016426 hsa-miR-193b-3p Microarray 20304954
MIRT019398 hsa-miR-148b-3p Microarray 17612493
MIRT020222 hsa-miR-130b-3p Sequencing 20371350
MIRT024424 hsa-miR-215-5p Microarray 19074876
MIRT026010 hsa-miR-148a-3p Sequencing 20371350
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Transcription factor Regulation Reference
MTF1 Activation 18990686
SP1 Activation 18990686
SP1 Unknown 23131565
XBP1 Unknown 23737521
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0001540 Function Amyloid-beta binding IDA 24012003
GO:0001540 Function Amyloid-beta binding IPI 22820466
GO:0001540 Function Amyloid-beta binding ISS
GO:0001540 Function Amyloid-beta binding TAS 21593310, 26871627
GO:0001933 Process Negative regulation of protein phosphorylation ISS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P04156
Protein name Major prion protein (PrP) (ASCR) (PrP27-30) (PrP33-35C) (CD antigen CD230)
Protein function Its primary physiological function is unclear. May play a role in neuronal development and synaptic plasticity. May be required for neuronal myelin sheath maintenance. May promote myelin homeostasis through acting as an agonist for ADGRG6 recept
PDB 1E1G , 1E1J , 1E1P , 1E1S , 1E1U , 1E1W , 1FKC , 1FO7 , 1H0L , 1HJM , 1HJN , 1I4M , 1OEH , 1OEI , 1QLX , 1QLZ , 1QM0 , 1QM1 , 1QM2 , 1QM3 , 2IV4 , 2IV5 , 2IV6 , 2K1D , 2KUN , 2LBG , 2LEJ , 2LFT , 2LSB , 2LV1 , 2M8T , 2OL9 , 2W9E , 3HAF , 3HAK , 3HEQ , 3HER , 3HES , 3HJ5 , 3HJX , 3MD4 , 3MD5 , 3NHC , 3NHD , 3NVF , 4DGI , 4E1H , 4E1I , 4KML , 4N9O , 5L6R
UniProt ID F7VJQ1
Protein name Alternative prion protein (AltPrP)
Family and domains
Sequence 
MEHWGQPIPGAGQPWRQPLPTSGRWWLGAASWWWLGAASWWWLGAAPWWWLGTASWWWLG
SRRWHPQSVEQAE
Sequence length 73
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Ferroptosis
Prion disease
Pathways of neurodegeneration - multiple diseases 		  Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
Associated diseases
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Action myoclonus-renal failure syndrome Action Myoclonus-Renal Failure Syndrome rs727502772, rs727502773, rs121909118, rs121909119, rs727502781, rs727502782, rs200053119, rs886041078, rs886041077, rs886041076, rs886041075, rs995674389, rs1553948516, rs1578733075 25401298
Alzheimer disease Familial Alzheimer Disease (FAD), Alzheimer Disease, Late Onset, Alzheimer Disease, Early Onset, Alzheimer`s Disease, Alzheimer`s Disease, Focal Onset rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316 17192785
Apraxia Apraxias rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs120074176, rs786205019
Unknown
Disease name Disease term dbSNP ID References
Akinetic mutism Akinetic Mutism
Alzheimer-like prion disease Familial Alzheimer-like prion disease 21416485
Amyloidosis of peripheral nerves Amyloidosis of peripheral nerves
Anxiety disorder Anxiety

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