Gene Gene information from NCBI Gene database.
Entrez ID 23467
Gene name Neuronal pentraxin receptor
Gene symbol NPTXR
Synonyms (NCBI Gene)
NPR
Chromosome 22
Chromosome location 22q13.1
Summary This gene encodes a protein similar to the rat neuronal pentraxin receptor. The rat pentraxin receptor is an integral membrane protein that is thought to mediate neuronal uptake of the snake venom toxin, taipoxin, and its transport into the synapses. Stud
miRNA miRNA information provided by mirtarbase database.
910
miRTarBase ID miRNA Experiments Reference
MIRT024464 hsa-miR-215-5p Microarray 19074876
MIRT026767 hsa-miR-192-5p Microarray 19074876
MIRT029999 hsa-miR-26b-5p Microarray 19088304
MIRT542108 hsa-miR-8485 HITS-CLIP 23824327
MIRT636383 hsa-miR-329-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0016020 Component Membrane IEA
GO:0046872 Function Metal ion binding IEA
GO:0098978 Component Glutamatergic synapse IDA 27986928
GO:0098978 Component Glutamatergic synapse IMP 27986928
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609474 7954 ENSG00000221890
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95502
Protein name Neuronal pentraxin receptor
Protein function May be involved in mediating uptake of synaptic material during synapse remodeling or in mediating the synaptic clustering of AMPA glutamate receptors at a subset of excitatory synapses.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00354 Pentaxin 292 488 Pentaxin family Domain
Sequence
MKFLAVLLAAGMLAFLGAVICIIASVPLAASPARALPGGADNASVASGAAASPGPQRSLS
ALHGAGGSAGPPALPGAPAASAHPLPPGPLFSRFLCTPLAAACPSGAQQGDAAGAAPGER
EELLLLQSTAEQLRQTALQQEARIRADQDTIRELTGKLGRCESGLPRGLQGAGPRRDTMA
DGPWDSPALILELEDAVRALRDRIDRLEQELPARVNLSAAPAPVSAVPTGLHSKMDQLEG
QLLAQVLALEKERVALSHSSRRQRQEVEKELDVLQGRVAELEHGSSAYSPPDAFKISIPI
RNNYMYARVRKALPELYAFTACMWLRSRSSGTGQGTPFSYSVPGQANEIVLLEAGHEPME
LLINDKVAQLPLSLKDNGWHHICIAWTTRDGLWSAYQDGELQGSGENLAAWHPIKPHGIL
ILGQEQDTLGGRFDATQAFVGDIAQFNLWDHALTPAQVLGIANCTAPLLGNVLPWEDKLV
EAFGGATK
AAFDVCKGRAKA
Sequence length 500
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 22232349, 24902845, 26270474, 36142780 Associate
★☆☆☆☆
Found in Text Mining only
Aortic coarctation Aortic Coarctation BEFREE 31002586
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 30636477
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy, Familial Idiopathic Cardiomyopathy BEFREE 20123316
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 30837593
★☆☆☆☆
Found in Text Mining only
Diabetes Diabetes BEFREE 30837593
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus BEFREE 30837593
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 30773997
★☆☆☆☆
Found in Text Mining only
Frontotemporal Dementia Frontotemporal dementia Pubtator 31019994, 32576262 Associate
★☆☆☆☆
Found in Text Mining only
Hermaphroditism Hermaphroditism BEFREE 29712787
★☆☆☆☆
Found in Text Mining only