Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57333
Gene name Gene Name - the full gene name approved by the HGNC.
Reticulocalbin 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RCN3
Synonyms (NCBI Gene) Gene synonyms aliases
RLP49
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.33
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT049606 hsa-miR-92a-3p CLASH 23622248
MIRT1298436 hsa-miR-1207-5p CLIP-seq
MIRT1298437 hsa-miR-1254 CLIP-seq
MIRT1298438 hsa-miR-1321 CLIP-seq
MIRT1298439 hsa-miR-1539 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IBA
GO:0005509 Function Calcium ion binding IDA 16433634
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 16189514, 16433634, 25416956, 32296183
GO:0005783 Component Endoplasmic reticulum IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
619032 21145 ENSG00000142552
Protein
UniProt ID Q96D15
Protein name Reticulocalbin-3 (EF-hand calcium-binding protein RLP49)
Protein function Probable molecular chaperone assisting protein biosynthesis and transport in the endoplasmic reticulum (PubMed:16433634, PubMed:28939891). Required for the proper biosynthesis and transport of pulmonary surfactant-associated protein A/SP-A, pulm
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13202 EF-hand_5 123 141 EF hand Domain
PF13202 EF-hand_5 205 230 EF hand Domain
PF13833 EF-hand_8 280 308 EF-hand domain pair Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:16433634}.
Sequence
MMWRPSVLLLLLLLRHGAQGKPSPDAGPHGQGRVHQAAPLSDAPHDDAHGNFQYDHEAFL
GREVAKEFDQLTPEESQARLGRIVDRMDRAGDGDGWVSLAELRAWIAHTQQRHIRDSVSA
AWDTYDTDRDGRVGWEELRNATYGHYAPGEEFHDVEDAETYKKMLARDERRFRVADQDGD
SMATREELTAFLHPEEFPHMRDIVIAETLEDLDRNKDGYVQVEEYIADLYSAEPGEEEPA
WVQTERQQFRDFRDLNKDGHLDGSEVGHWVLPPAQDQPLVEANHLLHESDTDKDGRLSKA
EILGNWNM
FVGSQATNYGEDLTRHHDEL
Sequence length 328
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Colorectal Neoplasms Associate 33096021
Esophageal Squamous Cell Carcinoma Stimulate 35839283
Feeding and Eating Disorders Associate 35057575
Glioma Associate 19544381
Lymphatic Metastasis Stimulate 35839283
Neoplasms Associate 19544381, 39206893
Neoplasms Stimulate 35839283
Stomach Neoplasms Stimulate 39206893
Uterine Cervical Neoplasms Stimulate 35181591