PRNP (GeneID: 5621) | Homo sapiens
Description: prion protein [Source:HGNC Symbol;Acc:HGNC:9449]
Synonyms: KURU, CD230, PrPc, 27-30, PrP, GSS, ASCR, PrP33-35C, PRIP, CJD, AltPrP, PrP27-30
Other ID(s): HGNC:9449, ENSG00000171867
Protein Accession Numbers: ENST00000379440, NP_001073592, NP_000302, ENST00000424424, NP_898902, NP_001073591, ENST00000457586, ENST00000379440.4, NP_001258490, NP_001073590, ENST00000430350
Statistics: ClinVar(13)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000379440 ENST00000424424 ENST00000430350 ENST00000457586 NP_000302 NP_001073590 NP_001073591 NP_001073592 NP_001258490 You are here now! NP_898902


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
NO DOMAINS EXIST

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.474 0.897
Ataxias, Hereditary Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.474 0.897
Charcot-Marie-Tooth Disease Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.474 0.897
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.474 0.897
Depressive disorder Mental Disorders ; 0.474 0.897
Dysautonomia, Familial Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.474 0.897
Gerstmann-Straussler-Scheinker Disease Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.474 0.897
Hepatolenticular Degeneration Digestive System Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.474 0.897
Creutzfeldt-Jakob disease Nervous System Diseases ; Mental Disorders ; 0.474 0.897
Kuru Nervous System Diseases ; 0.474 0.897
Liver Cirrhosis, Experimental Digestive System Diseases ; 0.474 0.897
Malignant neoplasm of stomach Neoplasms ; Digestive System Diseases ; 0.474 0.897
Necrosis Pathological Conditions, Signs and Symptoms ; 0.474 0.897
Neoplasm Metastasis Neoplasms ; Pathological Conditions, Signs and Symptoms ; 0.474 0.897
Neoplasms, Experimental Neoplasms ; 0.474 0.897
Prostatic Neoplasms Neoplasms ; Male Urogenital Diseases ; 0.474 0.897
Scrapie Nervous System Diseases ; Animal Diseases ; 0.474 0.897
Stomach Neoplasms Neoplasms ; Digestive System Diseases ; 0.474 0.897
Prion Diseases Nervous System Diseases ; 0.474 0.897
Fatal Familial Insomnia Nervous System Diseases ; 0.474 0.897
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.474 0.897
New Variant Creutzfeldt-Jakob Disease Nervous System Diseases ; Mental Disorders ; 0.474 0.897
Malignant neoplasm of prostate Neoplasms ; Male Urogenital Diseases ; 0.474 0.897
Pain Disorder Mental Disorders ; 0.474 0.897
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.474 0.897
Mood Disorders Mental Disorders ; 0.474 0.897
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.474 0.897
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.474 0.897
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.474 0.897
Creutzfeldt-Jakob Disease, Familial Nervous System Diseases ; Mental Disorders ; 0.474 0.897
Human Transmissible Spongiform Encephalopathies, Inherited Nervous System Diseases ; 0.474 0.897
Atypical Inclusion-Body Disease Nervous System Diseases ; 0.474 0.897
Familial Progressive Myoclonic Epilepsy Nervous System Diseases ; 0.474 0.897
Myoclonic Epilepsies, Progressive Nervous System Diseases ; 0.474 0.897
Action Myoclonus-Renal Failure Syndrome Nervous System Diseases ; 0.474 0.897
Biotin-Responsive Encephalopathy Nervous System Diseases ; 0.474 0.897
Dentatorubral-Pallidoluysian Atrophy Nervous System Diseases ; 0.474 0.897
May-White Syndrome Nervous System Diseases ; 0.474 0.897
Hepatic Form of Wilson Disease Digestive System Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.474 0.897
Hereditary Diffuse Gastric Cancer Neoplasms ; Digestive System Diseases ; 0.474 0.897
SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Mental Disorders ; 0.474 0.897
Creutzfeldt-Jakob Disease, Sporadic Nervous System Diseases ; Mental Disorders ; 0.474 0.897
HUNTINGTON DISEASE-LIKE 1 Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Mental Disorders ; 0.474 0.897
Creutzfeldt-Jakob Disease, Heidenhain Variant Nervous System Diseases ; Eye Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.474 0.897
clinical depression N/A 0.474 0.897
Amyloidosis, Cerebral, with Spongiform Encephalopathy Nervous System Diseases ; Mental Disorders ; 0.474 0.897
CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED N/A 0.474 0.897
Familial Alzheimer-like prion disease N/A 0.474 0.897
NO RESULT FOUND
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