Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9104
Gene name Gene Name - the full gene name approved by the HGNC.
Regucalcin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RGN
Synonyms (NCBI Gene) Gene synonyms aliases
GNL, HEL-S-41, RC, SMP30
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp11.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
miRTarBase ID miRNA Experiments Reference
MIRT023777 hsa-miR-1-3p Microarray 18668037
Transcription factors
Transcription factor Regulation Reference
SP1 Repression 21526343
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001822 Process Kidney development IEA
GO:0004341 Function Gluconolactonase activity IBA 21873635
GO:0004341 Function Gluconolactonase activity IDA 20329768, 23349732
GO:0005509 Function Calcium ion binding IBA 21873635
GO:0005509 Function Calcium ion binding IDA 20329768
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300212 9989 ENSG00000130988
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Kidney disease Kidney Diseases rs74315342, rs749740335, rs757649673, rs112417755, rs35138315 18805471
Associations from Text Mining
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