mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 NR5A2
Gene summary
Basic gene Info.Gene symbolNR5A2
Gene namenuclear receptor subfamily 5, group A, member 2
SynonymsB1F|B1F2|CPF|FTF|FTZ-F1|FTZ-F1beta|LRH-1|LRH1|hB1F-2
CytomapUCSC genome browser: 1q32.1
Type of geneprotein-coding
RefGenesNM_001276464.1,
NM_003822.4,NM_205860.2,
DescriptionCYP7A promoter-binding factoralpha-1-fetoprotein transcription factorb1-binding factor, hepatocyte transcription factor which activates enhancer II of hepatitis B virusfetoprotein-alpha 1 (AFP) transcription factorhepatocytic transcription factor hB1F
Modification date20141207
dbXrefs MIM : 604453
HGNC : HGNC
Ensembl : ENSG00000116833
HPRD : 06830
Vega : OTTHUMG00000035635
ProteinUniProt: O00482
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_NR5A2
BioGPS: 2494
PathwayNCI Pathway Interaction Database: NR5A2
KEGG: NR5A2
REACTOME: NR5A2
Pathway Commons: NR5A2
ContextiHOP: NR5A2
ligand binding site mutation search in PubMed: NR5A2
UCL Cancer Institute: NR5A2
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006355regulation of transcription, DNA-templated15723037
GO:0045070positive regulation of viral genome replication19264593
GO:0045893positive regulation of transcription, DNA-templated15143342


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Ligand binding site mutations for NR5A2
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
C86L85FBRCA1
I509R507WCOAD1
R142R142HHNSC1
L424L424IKIRC1
V156E154DKIRC1
H227N226YLUAD1
Q115Q115HLUAD1
Y98L100ILUAD1
N529Y528CLUSC1
L427N426HOV1
F109,K107G108ESKCM1
C86P87LSKCM1
V411D412GSKCM1
F109,K107G108RSKCM1
Y96S94PUCEC1
R135R135IUCEC1
R142R142HUCEC1
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 NR5A2
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
Y96S94P0.023422331
C86L85F-1.371259
Y98L100I-1.2495994
V411D412G-1.1710053
R142R142H-1.0560597
L427N426H-0.8811662
V156E154D-0.81167348
R135R135I-0.7916639
C86P87L-0.77311619
Q115Q115H-0.75056264
H227N226Y-0.6918118
N529Y528C-0.59373642
I509R507W-0.52146806
L424L424I-0.40970152
F109G108E-0.24823998
K107G108E-0.24823998
K107G108R-0.238651
F109G108R-0.238651
(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 NR5A2 from PDB

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Differential gene expression and gene-gene network for NR5A2
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 NR5A2 and the right PPI network was created from samples without mutations in the LBS of NR5A2. 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 NR5A2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0030297Pancreatic Neoplasms1Biomarker, GeneticVariation
umls:C0003128Anovulation1Biomarker
umls:C0021361Infertility, Female1Biomarker

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

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Pharmacological information for NR5A2
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 NR5A2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ZNZINC(2+)2a66AC86
NUCNucleic Acids2a66AF109 R135 R142
PIZPI(3,4,5)P3 DIPALMITOYL (16:0, 16:0)(2S)-3-{[(R)-{[(1S,2S,3R,4S,5S,6S)-2,6-DIHYDROXY-3,4,5- TRIS(PHOSPHONOOXY)CYCLOHEXYL]OXY}(HYDROXY) PHOSPHORYL]OXY}PROPANE-1,2-DIYL DIHEXADECANOATE4rwvAL424
EPHL-ALPHA-PHOSPHATIDYL-BETA-OLEOYL-GAMMA-PALMITOYL-PHOSPHATIDYLETHANOLAMINE4oniAL424
EPHL-ALPHA-PHOSPHATIDYL-BETA-OLEOYL-GAMMA-PALMITOYL-PHOSPHATIDYLETHANOLAMINE4pleEL424
EPHL-ALPHA-PHOSPHATIDYL-BETA-OLEOYL-GAMMA-PALMITOYL-PHOSPHATIDYLETHANOLAMINE4pleGL424 I509
P6L(2S)-3-{[{[(2S)-2,3-DIHYDROXYPROPYL]OXY}(HYDROXY)PHOSPHORYL]OXY}-2-[(6E)-HEXADEC-6-ENOYLOXY]PROPYL(8E)-OCTADEC-8-ENOATE1yokAL424 L427
EPHL-ALPHA-PHOSPHATIDYL-BETA-OLEOYL-GAMMA-PALMITOYL-PHOSPHATIDYLETHANOLAMINE1yucAL424 L427
EPHL-ALPHA-PHOSPHATIDYL-BETA-OLEOYL-GAMMA-PALMITOYL-PHOSPHATIDYLETHANOLAMINE1yucBL424 L427
470(3AS,6AR)-5-[(4E)-OCT-4-EN-4-YL]-N,4-DIPHENYL-2,3,6,6A-TETRAHYDROPENTALEN-3A(1H)-AMINE3plzAL424 L427
EPHL-ALPHA-PHOSPHATIDYL-BETA-OLEOYL-GAMMA-PALMITOYL-PHOSPHATIDYLETHANOLAMINE4pleAL424 L427
EPHL-ALPHA-PHOSPHATIDYL-BETA-OLEOYL-GAMMA-PALMITOYL-PHOSPHATIDYLETHANOLAMINE4dorBL424 L427 I509
EPHL-ALPHA-PHOSPHATIDYL-BETA-OLEOYL-GAMMA-PALMITOYL-PHOSPHATIDYLETHANOLAMINE4pleCL424 L427 I509
470(3AS,6AR)-5-[(4E)-OCT-4-EN-4-YL]-N,4-DIPHENYL-2,3,6,6A-TETRAHYDROPENTALEN-3A(1H)-AMINE3plzBL427
IIIPeptide ligand (PRO,ALA,ILE,LEU,TYR,ALA,LEU,LEU,SER,SER)4oniBN529
IIIPeptide ligand (ASN,ALA,LEU,LEU,ARG,TYR,LEU,LEU,ASP,LYS,ASP)4pldAN529
P6L(2S)-3-{[{[(2S)-2,3-DIHYDROXYPROPYL]OXY}(HYDROXY)PHOSPHORYL]OXY}-2-[(6E)-HEXADEC-6-ENOYLOXY]PROPYL(8E)-OCTADEC-8-ENOATE3tx7BV411 L424
P6L(2S)-3-{[{[(2S)-2,3-DIHYDROXYPROPYL]OXY}(HYDROXY)PHOSPHORYL]OXY}-2-[(6E)-HEXADEC-6-ENOYLOXY]PROPYL(8E)-OCTADEC-8-ENOATE4oniBV411 L424 L427
NUCNucleic Acids2a66AY96 Y98 K107 Q115 V156


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Conservation information for LBS of NR5A2
Multiple alignments for O00482 in multiple species
LBSAA sequence# speciesSpecies
A23-----AGLPDR1Homo sapiens
A23LREKRAGLPDR1Mus musculus
A23HREKRAGLPDR1Rattus norvegicus
A23-----------1Gallus gallus
A320EPQVQAKIMAY4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
A349LMCKMADQTLF2Homo sapiens, Gallus gallus
A349LLCKMADQTLF2Mus musculus, Rattus norvegicus
A420IIASQAGATLN1Homo sapiens
A420TIISHTEVAFN1Mus musculus
A420SIISNTEVAFN1Rattus norvegicus
A420VIASQAGATLN1Gallus gallus
A422ASQAGATLNNL2Homo sapiens, Gallus gallus
A422ISHTEVAFNNL1Mus musculus
A422ISNTEVAFNNL1Rattus norvegicus
A431NLMSHAQELVA2Homo sapiens, Gallus gallus
A431NLLSLAQELVV2Mus musculus, Rattus norvegicus
A513AISMQAEEYLY2Homo sapiens, Gallus gallus
A513AISKQAEDYLY2Mus musculus, Rattus norvegicus
A538IEMLHAKRA4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
C103YGLLTCESCKG4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
C106LTCESCKGFFK4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
C346TFGLMCKMADQ2Homo sapiens, Gallus gallus
C346AFGLLCKMADQ2Mus musculus, Rattus norvegicus
C86DLEELCPVCGD4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
C89ELCPVCGDKVS4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
D372RELKVDDQMKL4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
E104GLLTCESCKGF4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
E337NRNRQEKLSAF2Mus musculus, Rattus norvegicus
E337NRSKHEKLSTF1Homo sapiens
E337NRSKHEKLNTF1Gallus gallus
E358LFSIVEWARSS4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
E514ISKQAEDYLYY2Mus musculus, Rattus norvegicus
E514ISMQAEEYLYY1Homo sapiens
E514ISMQAEEYLYC1Gallus gallus
E534NNLLIEMLHAK4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
F109ESCKGFFKRTV4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
F342EKLSAFGLLCK2Mus musculus, Rattus norvegicus
F342EKLSTFGLMCK1Homo sapiens
F342EKLNTFGLMCK1Gallus gallus
F354ADQTLFSIVEW4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
F366RSSIFFRELKV4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
G163ADRMRGGRNKF4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
G164DRMRGGRNKFG4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
G421IASQAGATLNN2Homo sapiens, Gallus gallus
G421IISHTEVAFNN1Mus musculus
G421IISNTEVAFNN1Rattus norvegicus
H227GLPLSHVALPP2Mus musculus, Rattus norvegicus
H227GLPLNHAALPP1Homo sapiens
H227GLPLNHTALPP1Gallus gallus
H336ANRSKHEKLST1Homo sapiens
H336SNRNRQEKLSA1Mus musculus
H336NNRNRQEKLSA1Rattus norvegicus
H336ANRSKHEKLNT1Gallus gallus
H390LLILDHIYRQV4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
H537LIEMLHAKRA4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
H97KVSGYHYGLLT4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
I387WSELLILDHIY4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
I403GKEGTIFLVTG2Mus musculus, Rattus norvegicus
I403GKEGSIFLVTG1Homo sapiens
I403VKEGSILLVTG1Gallus gallus
I415QVDYSIIASQA1Homo sapiens
I415HVDYSTIISHT1Mus musculus
I415HVDYSSIISNT1Rattus norvegicus
I415QVDYSVIASQA1Gallus gallus
I416VDYSIIASQAG1Homo sapiens
I416VDYSTIISHTE1Mus musculus
I416VDYSSIISNTE1Rattus norvegicus
I416VDYSVIASQAG1Gallus gallus
I509PEIRAISMQAE2Homo sapiens, Gallus gallus
I509PEIRAISKQAE2Mus musculus, Rattus norvegicus
K107TCESCKGFFKR4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
K111CKGFFKRTVQN4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
K136DKTQRKRCPYC4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
K520DYLYYKHVNGD2Mus musculus, Rattus norvegicus
K520EYLYYKHLNGD1Homo sapiens
K520EYLYCKHLNGD1Gallus gallus
L344LSAFGLLCKMA2Mus musculus, Rattus norvegicus
L344LSTFGLMCKMA1Homo sapiens
L344LNTFGLMCKMA1Gallus gallus
L369IFFRELKVDDQ4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
L378DQMKLLQNCWS4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
L386CWSELLILDHI4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
L405EGTIFLVTGEH2Mus musculus, Rattus norvegicus
L405EGSIFLVTGQQ1Homo sapiens
L405EGSILLVTGQQ1Gallus gallus
L424QAGATLNNLMS2Homo sapiens, Gallus gallus
L424HTEVAFNNLLS1Mus musculus
L424NTEVAFNNLLS1Rattus norvegicus
L427ATLNNLMSHAQ2Homo sapiens, Gallus gallus
L427VAFNNLLSLAQ2Mus musculus, Rattus norvegicus
L517QAEDYLYYKHV2Mus musculus, Rattus norvegicus
L517QAEEYLYYKHL1Homo sapiens
L517QAEEYLYCKHL1Gallus gallus
L531VPYNNLLIEML3Homo sapiens, Mus musculus, Rattus norvegicus
L531VPCNNLLIEML1Gallus gallus
L532PYNNLLIEMLH3Homo sapiens, Mus musculus, Rattus norvegicus
L532PCNNLLIEMLH1Gallus gallus
M161VRADRMRGGRN4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
M323VQAKIMAYLQQ4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
M345SAFGLLCKMAD2Mus musculus, Rattus norvegicus
M345STFGLMCKMAD1Homo sapiens
M345NTFGLMCKMAD1Gallus gallus
M375KVDDQMKLLQN4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
M428TLNNLMSHAQE2Homo sapiens, Gallus gallus
M428AFNNLLSLAQE2Mus musculus, Rattus norvegicus
M535NLLIEMLHAKR4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
N166MRGGRNKFGPM4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
N529GDVPYNNLLIE3Homo sapiens, Mus musculus, Rattus norvegicus
N529GDVPCNNLLIE1Gallus gallus
N530DVPYNNLLIEM3Homo sapiens, Mus musculus, Rattus norvegicus
N530DVPCNNLLIEM1Gallus gallus
Q115FKRTVQNNKRY2Homo sapiens, Gallus gallus
Q115FKRTVQNQKRY2Mus musculus, Rattus norvegicus
Q374LKVDDQMKLLQ4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
Q379QMKLLQNCWSE4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
Q409FLVTGEHVDYS2Mus musculus, Rattus norvegicus
Q409FLVTGQQVDYS1Homo sapiens
Q409LLVTGQQVDYS1Gallus gallus
Q419SIIASQAGATL1Homo sapiens
Q419STIISHTEVAF1Mus musculus
Q419SSIISNTEVAF1Rattus norvegicus
Q419SVIASQAGATL1Gallus gallus
R112KGFFKRTVQNN2Homo sapiens, Gallus gallus
R112KGFFKRTVQNQ2Mus musculus, Rattus norvegicus
R135IDKTQRKRCPY4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
R142RCPYCRFQKCL2Homo sapiens, Gallus gallus
R142RCPYCRFKKCI2Mus musculus, Rattus norvegicus
R157KLEAVRADRMR4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
R160AVRADRMRGGR4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
R162RADRMRGGRNK4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
R165RMRGGRNKFGP4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
R28AGLPDRHRRPI2Mus musculus, Rattus norvegicus
R28AGLPDRHGSPI1Homo sapiens
R28-----------1Gallus gallus
R361IVEWARSSIFF4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
R367SSIFFRELKVD4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
S105LLTCESCKGFF4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
S383LQNCWSELLIL4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
T341QEKLSAFGLLC2Mus musculus, Rattus norvegicus
T341HEKLSTFGLMC1Homo sapiens
T341HEKLNTFGLMC1Gallus gallus
T423SQAGATLNNLM2Homo sapiens, Gallus gallus
T423SHTEVAFNNLL1Mus musculus
T423SNTEVAFNNLL1Rattus norvegicus
V156MKLEAVRADRM4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
V357TLFSIVEWARS4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
V371FRELKVDDQMK4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
V411VTGQQVDYSII1Homo sapiens
V411VTGEHVDYSTI1Mus musculus
V411VTGEHVDYSSI1Rattus norvegicus
V411VTGQQVDYSVI1Gallus gallus
W382LLQNCWSELLI4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
Y172KFGPMYKRDRA4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
Y516KQAEDYLYYKH2Mus musculus, Rattus norvegicus
Y516MQAEEYLYYKH1Homo sapiens
Y516MQAEEYLYCKH1Gallus gallus
Y519EDYLYYKHVNG2Mus musculus, Rattus norvegicus
Y519EEYLYYKHLNG1Homo sapiens
Y519EEYLYCKHLNG1Gallus gallus
Y96DKVSGYHYGLL4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
Y98VSGYHYGLLTC4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus


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