Gene Gene information from NCBI Gene database.
Entrez ID 10313
Gene name Reticulon 3
Gene symbol RTN3
Synonyms (NCBI Gene)
ASYIPHAPNSPL2NSPLIIRTN3-A1
Chromosome 11
Chromosome location 11q13.1
Summary This gene belongs to the reticulon family of highly conserved genes that are preferentially expressed in neuroendocrine tissues. This family of proteins interact with, and modulate the activity of beta-amyloid converting enzyme 1 (BACE1), and the producti
miRNA miRNA information provided by mirtarbase database.
503
miRTarBase ID miRNA Experiments Reference
MIRT020529 hsa-miR-155-5p Proteomics 18668040
MIRT050976 hsa-miR-17-5p CLASH 23622248
MIRT048346 hsa-miR-106a-5p CLASH 23622248
MIRT043942 hsa-miR-378a-3p CLASH 23622248
MIRT041723 hsa-miR-484 CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
ATF6 Activation 17191123
DDIT3 Activation 17191123
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005515 Function Protein binding IPI 15286784, 16189514, 16965550, 19364499, 21044950, 21976701, 25416956, 26871637, 29892012, 31515488, 32296183, 33961781, 35271311
GO:0005615 Component Extracellular space TAS 10331947
GO:0005783 Component Endoplasmic reticulum IDA 15286784
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604249 10469 ENSG00000133318
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95197
Protein name Reticulon-3 (Homolog of ASY protein) (HAP) (Neuroendocrine-specific protein-like 2) (NSP-like protein 2) (Neuroendocrine-specific protein-like II) (NSP-like protein II) (NSPLII)
Protein function May be involved in membrane trafficking in the early secretory pathway. Inhibits BACE1 activity and amyloid precursor protein processing. May induce caspase-8 cascade and apoptosis. May favor BCL2 translocation to the mitochondria upon endoplasm
PDB 7BRU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02453 Reticulon 844 1008 Reticulon Family
Tissue specificity TISSUE SPECIFICITY: Isoform 3 is widely expressed, with highest levels in brain, where it is enriched in neuronal cell bodies from gray matter (at protein level). Three times more abundant in macula than in peripheral retina. Isoform 1 is expressed at hig
Sequence
MAEPSAATQSHSISSSSFGAEPSAPGGGGSPGACPALGTKSCSSSCADSFVSSSSSQPVS
LFSTSQEGLSSLCSDEPSSEIMTSSFLSSSEIHNTGLTILHGEKSHVLGSQPILAKEGKD
HLDLLDMKKMEKPQGTSNNVSDSSVSLAAGVHCDRPSIPASFPEHPAFLSKKIGQVEEQI
DKETKNPNGVSSREAKTALDADDRFTLLTAQKPPTEYSKVEGIYTYSLSPSKVSGDDVIE
KDSPESPFEVIIDKAAFDKEFKDSYKESTDDFGSWSVHTDKESSEDISETNDKLFPLRNK
EAGRYPMSALLSRQFSHTNAALEEVSRCVNDMHNFTNEILTWDLVPQVKQQTDKSSDCIT
KTTGLDMSEYNSEIPVVNLKTSTHQKTPVCSIDGSTPITKSTGDWAEASLQQENAITGKP
VPDSLNSTKEFSIKGVQGNMQKQDDTLAELPGSPPEKCDSLGSGVATVKVVLPDDHLKDE
MDWQSSALGEITEADSSGESDDTVIEDITADTSFENNKIQAEKPVSIPSAVVKTGEREIK
EIPSCEREEKTSKNFEELVSDSELHQDQPDILGRSPASEAACSKVPDTNVSLEDVSEVAP
EKPITTENPKLPSTVSPNVFNETEFSLNVTTSAYLESLHGKNVKHIDDSSPEDLIAAFTE
TRDKGIVDSERNAFKAISEKMTDFKTTPPVEVLHENESGGSEIKDIGSKYSEQSKETNGS
EPLGVFPTQGTPVASLDLEQEQLTIKALKELGERQVEKSTSAQRDAELPSEEVLKQTFTF
APESWPQRSYDILERNVKNGSDLGISQKPITIRETTRVDAVSSLSKTELVKKHVLARLLT
DFSVHDLIFWRDVKKTGFVFGTTLIMLLSLAAFSVISVVSYLILALLSVTISFRIYKSVI
QAVQKSEEGHPFKAYLDVDITLSSEAFHNYMNAAMVHINRALKLIIRLFLVEDLVDSLKL
AVFMWLMTYVGAVFNGITLLILAELLIFSVPIVYEKYKTQIDHYVGIA
RDQTKSIVEKIQ
AKLPGIAKKKAE
Sequence length 1032
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Alzheimer disease   Synaptic adhesion-like molecules
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
UTERINE FIBROID 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 17699523, 34668150 Associate
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 27883331
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 24934404
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 28589496
★☆☆☆☆
Found in Text Mining only
Bipolar I disorder Bipolar Disorder BEFREE 18466881, 23032943
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 28717245 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 26909918 Associate
★☆☆☆☆
Found in Text Mining only
Cerebral Infarction Ischemic stroke Pubtator 23466835 Inhibit
★☆☆☆☆
Found in Text Mining only
Cerebral Infarction Ischemic stroke Pubtator 23466835 Associate
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Cognitive disorder BEFREE 28238655
★☆☆☆☆
Found in Text Mining only