Gene
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.
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.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 26040720, 29892012, 32296183, 32814053
GO:0010976 Process Positive regulation of neuron projection development IMP 23939472
GO:0016021 Component Integral component of membrane IEA
GO:0032991 Component Protein-containing complex IDA 28246125
GO:0061709 Process Reticulophagy IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
616498 27258 ENSG00000141699
Protein
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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Colonic neoplasms Malignant tumor of colon rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483 26621817
Colorectal cancer Colorectal Carcinoma, Adenocarcinoma of large intestine rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
26621817
Colorectal neoplasms Colorectal Neoplasms, Malignant neoplasm of large intestine rs28929483, rs63751108, rs28929484, rs63749831, rs63750047, rs63751207, rs63749811, rs1553350126, rs63750875, rs63750955, rs587776706, rs63750871, rs587776715, rs63751466, rs63750049
View all (1682 more)
26621817
Cortical dysplasia with other brain malformations CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 rs137853194, rs137853195, rs137853196, rs267607164, rs267607165, rs878853256, rs878853257, rs878853258, rs397514567, rs397514569, rs398123045, rs398123046, rs398123047, rs587777033, rs587777034
View all (45 more)
Unknown
Disease term Disease name Evidence References Source
Diabetes Diabetes GWAS