RETREG3 (reticulophagy regulator family member 3)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
162427
Gene name Gene Name - the full gene name approved by the HGNC.
Reticulophagy regulator family member 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RETREG3
Synonyms (NCBI Gene) Gene synonyms aliases
FAM134C
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.2
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(10)
miRTarBase ID miRNA Experiments Reference
MIRT477129 hsa-miR-6507-5p PAR-CLIP 23592263
MIRT477127 hsa-miR-6815-5p PAR-CLIP 23592263
MIRT477128 hsa-miR-6865-5p PAR-CLIP 23592263
MIRT477126 hsa-miR-548ao-5p PAR-CLIP 23592263
MIRT477125 hsa-miR-548ax PAR-CLIP 23592263
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(16)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 26040720, 29892012, 32296183, 32353859, 32814053, 33060197, 33826365, 33961781, 36217030
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0006914 Process Autophagy IEA
GO:0007029 Process Endoplasmic reticulum organization IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616498 27258 ENSG00000141699
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q86VR2
Protein name Reticulophagy regulator 3
Protein function Endoplasmic reticulum (ER)-anchored autophagy regulator which exists in an inactive state under basal conditions but is activated following cellular stress (PubMed:34338405). When activated, induces ER fragmentation and mediates ER delivery into
Family and domains
Sequence 
MAEAEGVPTTPGPASGSTFRGRRDVSGSWERDQQVEAAQRALVEVLGPYEPLLSRVQAAL
VWERPARSALWCLGLNAAFWFFALTSLRLVFLLAFGLMIIVCIDQWKNKIWPEIKVPRPD
ALDNESWGFVHPRLLSVPELCHHVAEVWVSGTIFIRNVLLFKKQNPGKFCLLSCGILTFL
AVLGRYVPGLLLSYLMLVTVMMWPLAVYHRLWDRAYVRLKPALQRLDFSVRGYMMSKQRE
RQLRRRALHPERAMDNHSDSEEELAAFCPQLDDSTVARELAITDSEHSDAEVSCTDNGTF
NLSRGQTPLTEGSEDLDGHSDPEESFARDLPDFPSINMDPAGLDDEDDTSIGMPSLMYRS
PPGAEEPQAPPASRDEAALPELLLGALPVGSNLTSNLASLVSQGMIQLALSGASQPGPSG
APAQRATRGFLRSPSSDLDTDAEGDDFELLDQSELSQLDPASSRSH
Sequence length 466
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS