Gene Gene information from NCBI Gene database.
Entrez ID 79137
Gene name Reticulophagy regulator family member 2
Gene symbol RETREG2
Synonyms (NCBI Gene)
C2orf17FAM134AMAG-2
Chromosome 2
Chromosome location 2q35
miRNA miRNA information provided by mirtarbase database.
23
miRTarBase ID miRNA Experiments Reference
MIRT703713 hsa-miR-15b-3p HITS-CLIP 23313552
MIRT703712 hsa-miR-6089 HITS-CLIP 23313552
MIRT703711 hsa-miR-6134 HITS-CLIP 23313552
MIRT703710 hsa-miR-7106-5p HITS-CLIP 23313552
MIRT703709 hsa-miR-149-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21900206, 26040720
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NC44
Protein name Reticulophagy regulator 2
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
PDB 6EWC
Family and domains
Sequence
MASGGGGGNTGAGGGPGMGLSLGLGLGLSLGMSEATSEAEEEAATAEAVGRLATTLWLRL
RGWEAVLAAAQRLLVWEKPLHSLVTAAALNGLFWLLSSSSLRPFFLLSVSLLAYFLLDLW
QPRFLPDVSASSPEEPHSDSEGAGSGARPHLLSVPELCRYLAESWLTFQIHLQELLQYKR
QNPAQFCVRVCSGCAVLAVLGHYVPGIMISYIVLLSILLWPLVVYHELIQRMYTRLEPLL
MQLDYSMKAEANALHHKHDKRKRQGKNAPPGGDEPLAETESESEAELAGFSPVVDVKKTA
LALAITDSELSDEEASILESGGFSVSRATTPQLTDVSEDLDQQSLPSEPEETLSRDLGEG
EEGELAPPEDLLGRPQALSRQALDSEEEEEDVAAKETLLRLSSPLHFVNTHFNGAGSPPD
GVKCSPGGPVETLSPETVSGGLTALPGTLSPPLCLVGSDPAPSPSILPPVPQDSPQPLPA
PEEEEALTTEDFELLDQGELEQLNAELGLEPETPPKPPDAPPLGPDIHSLVQSDQEAQAV
AEP
Sequence length 543
Interactions View interactions
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
SCHIZOPHRENIA Disgenet, GWAS catalog
Disgenet, 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
Carcinoma of lung Lung carcinoma BEFREE 19212629
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 33504897 Associate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 33504897 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of lung Lung Cancer BEFREE 19212629
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 19212629, 29440427
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia BEFREE 23474461
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Schizophrenia Schizophrenia PSYGENET_DG 23474461
★★☆☆☆
Found in Text Mining + Unknown/Other Associations