Gene Gene information from NCBI Gene database.
Entrez ID 9104
Gene name Regucalcin
Gene symbol RGN
Synonyms (NCBI Gene)
GNLHEL-S-41RCSMP30
Chromosome X
Chromosome location Xp11.3
Summary The protein encoded by this gene is a highly conserved, calcium-binding protein, that is preferentially expressed in the liver and kidney. It may have an important role in calcium homeostasis. Studies in rat indicate that this protein may also play a role
miRNA miRNA information provided by mirtarbase database.
1
miRTarBase ID miRNA Experiments Reference
MIRT023777 hsa-miR-1-3p Microarray 18668037
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SP1 Repression 21526343
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0004341 Function Gluconolactonase activity IBA
GO:0004341 Function Gluconolactonase activity IDA 20329768, 23349732
GO:0004341 Function Gluconolactonase activity IEA
GO:0005509 Function Calcium ion binding IBA
GO:0005509 Function Calcium ion binding IDA 20329768
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300212 9989 ENSG00000130988
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15493
Protein name Regucalcin (RC) (Gluconolactonase) (GNL) (EC 3.1.1.17) (Senescence marker protein 30) (SMP-30)
Protein function Gluconolactonase with low activity towards other sugar lactones, including gulonolactone and galactonolactone. Can also hydrolyze diisopropyl phosphorofluoridate and phenylacetate (in vitro). Calcium-binding protein. Modulates Ca(2+) signaling,
PDB 3G4E , 3G4H , 4GNB , 4GNC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08450 SGL 16 264 SMP-30/Gluconolactonase/LRE-like region Family
Sequence
Sequence length 299
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Pentose phosphate pathway
Ascorbate and aldarate metabolism
Metabolic pathways
Carbon metabolism
Biosynthesis of cofactors
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hepatocellular carcinoma Uncertain significance rs782453942 RCV005939168
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Inhibit 31718698
Astrocytoma Associate 31683628
Blood Coagulation Disorders Associate 27991558
Breast Neoplasms Associate 21687737
Carcinogenesis Inhibit 30720065
Carcinoma Hepatocellular Associate 23725145, 24606440, 27991558
Carcinoma Non Small Cell Lung Associate 31718698
Carcinoma Renal Cell Inhibit 30387835
Carcinoma Squamous Cell Associate 37161020
Cataract Stimulate 26619319