mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for RGN
Gene summary
Basic gene Info.Gene symbolRGN
Gene nameregucalcin
SynonymsGNL|HEL-S-41|RC|SMP30
CytomapUCSC genome browser: Xp11.3
Type of geneprotein-coding
RefGenesNM_001282848.1,
NM_001282849.1,NM_004683.5,NM_152869.3,
Descriptionepididymis secretory protein Li 41gluconolactonasesenescence marker protein 30
Modification date20141207
dbXrefs MIM : 300212
HGNC : HGNC
Ensembl : ENSG00000130988
HPRD : 02196
Vega : OTTHUMG00000021435
ProteinUniProt: Q15493
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_RGN
BioGPS: 9104
PathwayNCI Pathway Interaction Database: RGN
KEGG: RGN
REACTOME: RGN
Pathway Commons: RGN
ContextiHOP: RGN
ligand binding site mutation search in PubMed: RGN
UCL Cancer Institute: RGN
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for RGN
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
 : non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
E18G17DCOAD1
N154I152MLUAD1
G67S66LSTAD1
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.


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Protein structure related information for RGN
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
N154I152M-1.2706674
E18G17D-0.63997526
G67S66L-0.56744399
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for RGN from PDB

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Differential gene expression and gene-gene network for RGN
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of RGN and the right PPI network was created from samples without mutations in the LBS of RGN. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for RGN
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0022658Kidney Diseases1Biomarker
umls:C0023893Liver Cirrhosis, Experimental1Biomarker
umls:C0023904Liver Neoplasms, Experimental1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for RGN
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of RGN go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ASO1,5-ANHYDRO-D-GLUCITOL4gncAE18
CACALCIUM(2+)3g4eAE18 N154
CACALCIUM(2+)3g4eBE18 N154
ZNZINC(2+)3g4hBE18 N154
ZNZINC(2+)3g4hAE18 N154
CACALCIUM(2+)4gnbAE18 N154
CACALCIUM(2+)4gnbBE18 N154
CACALCIUM(2+)4gncAE18 N154
CACALCIUM(2+)4gncBE18 N154
ASO1,5-ANHYDRO-D-GLUCITOL4gncBE18 N154
ASO1,5-ANHYDRO-D-GLUCITOL4gncBG67


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Conservation information for LBS of RGN
Multiple alignments for Q15493 in multiple species
LBSAA sequence# speciesSpecies
A293GVKGIAPYSYA3Homo sapiens, Mus musculus, Rattus norvegicus
A293-LDGNVPLEST1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A293GVKGIPPYSYT1Danio rerio
A293GVKGIAPTAFA1Xenopus tropicalis
A293GVKGIPPYPFA1Gallus gallus
A293GVKGIPPYPYT1Bos taurus
D104N-RFNDGKVDP6Homo sapiens, Xenopus tropicalis, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
D104KLRSNDGNVSP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D104T-RFNDGKVDP1Danio rerio
D204EEQIPDGMCI-2Homo sapiens, Bos taurus
D204DEGIPDGMCI-2Danio rerio, Xenopus tropicalis
D204DEQIPDGMCI-2Mus musculus, Rattus norvegicus
D204ESPEPDGSAIW1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D204EESIPDGMCI-1Gallus gallus
E121GTMAEETAPAV4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
E121GLMSD--FPFD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E121GTMSMDMKPDV1Danio rerio
E121GTMSQEIRPAV1Xenopus tropicalis
E121GTMAEEIRPAV1Gallus gallus
E18----GESPVWE6Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Bos taurus
E18GAIHSEGITFV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E18----GESPVWD1Gallus gallus
E23ESPVWEEVSNS1Homo sapiens
E23EGITFVKETGT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E23ESPVWEEKDSS1Danio rerio
E23ESPVWEEKDGT1Xenopus tropicalis
E23ESPVWDEKENS1Gallus gallus
E23ESPVWEEASQS1Mus musculus
E23ESPVWEEASKC1Rattus norvegicus
E23ESPVWEEASNS1Bos taurus
E24SPVWEEVSNSL1Homo sapiens
E24GITFVKETGTL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E24SPVWEEKDSSL1Danio rerio
E24SPVWEEKDGTL1Xenopus tropicalis
E24SPVWDEKENSL1Gallus gallus
E24SPVWEEASQSL1Mus musculus
E24SPVWEEASKCL1Rattus norvegicus
E24SPVWEEASNSL1Bos taurus
G252SCCFGGKDYSE4Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
G252SCCFGGKNYSE1Homo sapiens
G252CCCFVGKD---1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G252SCCFGGKDYSD1Danio rerio
G252SCCFGGPDYSE1Xenopus tropicalis
G291GLGVKGIAPYS3Homo sapiens, Mus musculus, Rattus norvegicus
G291GLGVKGIPPYP2Gallus gallus, Bos taurus
G291NV-LDGNVPLE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G291GLGVKGIPPYS1Danio rerio
G291GLGVKGIAPTA1Xenopus tropicalis
G67ALRQSGGYVAT3Homo sapiens, Rattus norvegicus, Bos taurus
G67ELKESVGCIFP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G67VPRQAGGYVIA1Danio rerio
G67VLRKSGGYVMA1Xenopus tropicalis
G67ALRKSGDYVIT1Gallus gallus
G67ALRQLGGYVAT1Mus musculus
G68LRQSGGYVATI2Homo sapiens, Rattus norvegicus
G68LKESVGCIFPI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G68PRQAGGYVIAE1Danio rerio
G68LRKSGGYVMAM1Xenopus tropicalis
G68LRKSGDYVITL1Gallus gallus
G68LRQLGGYVATI1Mus musculus
G68LRQSGGYVATV1Bos taurus
I292LGVKGIAPYSY3Homo sapiens, Mus musculus, Rattus norvegicus
I292V-LDGNVPLES1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I292LGVKGIPPYSY1Danio rerio
I292LGVKGIAPTAF1Xenopus tropicalis
I292LGVKGIPPYPF1Gallus gallus
I292LGVKGIPPYPY1Bos taurus
I34LLFVDIPAKKV2Homo sapiens, Bos taurus
I34LLWVDIFKGEV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I34LLYVDITGQKV1Danio rerio
I34LLFVDITGQKV1Xenopus tropicalis
I34LLCVDITGRKV1Gallus gallus
I34LLFVDIPSKII1Mus musculus
I34LLFVDIPSKTV1Rattus norvegicus
K253CCFGGKDYSEM4Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
K253CCFGGKNYSEM1Homo sapiens
K253CCFVGKD---L1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K253CCFGGKDYSDL1Danio rerio
K253CCFGGPDYSEM1Xenopus tropicalis
N103NN-RFNDGKVD6Homo sapiens, Xenopus tropicalis, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
N103YKLRSNDGNVS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N103NT-RFNDGKVD1Danio rerio
N154QVDISNGLDWS5Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
N154CLLIPNAIHWD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N154QVHLSNGLDWS1Danio rerio
N154MVDISNGLDWS1Xenopus tropicalis
N254CFGGKDYSEMY4Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
N254CFGGKNYSEMY1Homo sapiens
N254CFVGKD---LF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N254CFGGKDYSDLY1Danio rerio
N254CFGGPDYSEMY1Xenopus tropicalis
R101KKNN-RFNDGK4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
R101RAYKLRSNDGN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R101KPNT-RFNDGK1Danio rerio
R101KPNN-RFNDGK1Xenopus tropicalis
R101KANN-RFNDGK1Gallus gallus
R41AKKVCRWDSFT1Homo sapiens
R41KGEVHKVEDIE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R41GQKVSRWSSLT1Danio rerio
R41GQKVCRWDPGT1Xenopus tropicalis
R41GRKVCRWDAAS1Gallus gallus
R41SKIICRWDTVS1Mus musculus
R41SKTVCRWDSIS1Rattus norvegicus
R41AKKVCRWDSLS1Bos taurus
S26VWEEVSNSLLF1Homo sapiens
S26TFVKETGTLLW1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S26VWEEKDSSLLY1Danio rerio
S26VWEEKDGTLLF1Xenopus tropicalis
S26VWDEKENSLLC1Gallus gallus
S26VWEEASQSLLF1Mus musculus
S26VWEEASKCLLF1Rattus norvegicus
S26VWEEASNSLLF1Bos taurus
T246-VDKTTSCCFG6Homo sapiens, Xenopus tropicalis, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
T246QTPRVSCCCFV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T246-AERITSCCFG1Danio rerio
W22GESPVWEEVSN1Homo sapiens
W22SEGITFVKETG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
W22GESPVWEEKDS1Danio rerio
W22GESPVWEEKDG1Xenopus tropicalis
W22GESPVWDEKEN1Gallus gallus
W22GESPVWEEASQ1Mus musculus
W22GESPVWEEASK1Rattus norvegicus
W22GESPVWEEASN1Bos taurus
Y255FGGKDYSEMYV4Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
Y255FGGKNYSEMYV1Homo sapiens
Y255FVGKD---LFV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y255FGGKDYSDLYI1Danio rerio
Y255FGGPDYSEMYV1Xenopus tropicalis
Y69RQSGGYVATI-2Homo sapiens, Rattus norvegicus
Y69KESVGCIFPIL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y69RQAGGYVIAE-1Danio rerio
Y69RKSGGYVMAM-1Xenopus tropicalis
Y69RKSGDYVITL-1Gallus gallus
Y69RQLGGYVATI-1Mus musculus
Y69RQSGGYVATV-1Bos taurus


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