Gene Gene information from NCBI Gene database.
Entrez ID 5955
Gene name Reticulocalbin 2
Gene symbol RCN2
Synonyms (NCBI Gene)
E6BPERC-55ERC55TCBP49
Chromosome 15
Chromosome location 15q24.3
Summary The protein encoded by this gene is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. This gene maps to the same region as type 4 Bard
miRNA miRNA information provided by mirtarbase database.
186
miRTarBase ID miRNA Experiments Reference
MIRT001507 hsa-miR-155-5p pSILAC 18668040
MIRT019940 hsa-miR-375 Microarray 20215506
MIRT001507 hsa-miR-155-5p Proteomics;Other 18668040
MIRT025032 hsa-miR-183-5p Sequencing 20371350
MIRT029831 hsa-miR-26b-5p Microarray 19088304
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:0005509 Function Calcium ion binding IBA
GO:0005509 Function Calcium ion binding IEA
GO:0005509 Function Calcium ion binding TAS 8034671
GO:0005515 Function Protein binding IPI 7624774, 20562859, 21900206, 32296183, 32814053, 36217030
GO:0005730 Component Nucleolus IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602584 9935 ENSG00000117906
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14257
Protein name Reticulocalbin-2 (Calcium-binding protein ERC-55) (E6-binding protein) (E6BP)
Protein function Not known. Binds calcium.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13202 EF-hand_5 66 91 EF hand Domain
PF13202 EF-hand_5 191 215 EF hand Domain
PF13202 EF-hand_5 237 253 EF hand Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
MRLGPRTAALGLLLLCAAAAGAGKAEELHYPLGERRSDYDREALLGVQEDVDEYVKLGHE
EQQKRLQAIIKKIDLDSDGFLTESELSSWIQMSFKHYAMQEAKQQFVEYDKNSDDTVTWD
EYNIQMYDRVIDFDENTALDDAEEESFRKLHLKDKKRFEKANQDSGPGLSLEEFIAFEHP
EEVDYMTEFVIQEALEEHDKNGDGFVSLEEFLGDYRWDPTANEDPEWILVEKDRFVNDYD
KDNDGRLDPQELL
PWVVPNNQGIAQEEALHLIDEMDLNGDKKLSEEEILENPDLFLTSEA
TDYGRQLHDDYFYHDEL
Sequence length 317
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INTRACRANIAL HEMORRHAGE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations