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 SHBG
Gene summary
Basic gene Info.Gene symbolSHBG
Gene namesex hormone-binding globulin
SynonymsABP|SBP|TEBG
CytomapUCSC genome browser: 17p13.1
Type of geneprotein-coding
RefGenesNM_001040.4,
NM_001146279.2,NM_001146280.2,NM_001146281.2,NM_001289113.1,
NM_001289114.1,NM_001289115.1,NM_001289116.1,
Descriptionsex steroid-binding proteintestis-specific androgen-binding proteintestosterone-binding beta-globulintestosterone-estradiol-binding globulintestosterone-estrogen-binding globulin
Modification date20141207
dbXrefs MIM : 182205
HGNC : HGNC
Ensembl : ENSG00000129214
HPRD : 01646
Vega : OTTHUMG00000108153
ProteinUniProt: P04278
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_SHBG
BioGPS: 6462
PathwayNCI Pathway Interaction Database: SHBG
KEGG: SHBG
REACTOME: SHBG
Pathway Commons: SHBG
ContextiHOP: SHBG
ligand binding site mutation search in PubMed: SHBG
UCL Cancer Institute: SHBG
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 SHBG
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
V141D139VSTAD1
H165,K163R164HSTAD1
L160P159LUCEC1
I170L172IUCEC1
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 SHBG
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
K163R164H-1.6694152
H165R164H-1.6694152
L160P159L-1.0378314
I170L172I-0.94333181
V141D139V-0.17001651
(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 SHBG from PDB

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Differential gene expression and gene-gene network for SHBG
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 SHBG and the right PPI network was created from samples without mutations in the LBS of SHBG. 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 SHBG
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0011860Diabetes Mellitus, Type 213Biomarker, GeneticVariation
umls:C0524620Metabolic Syndrome X10Biomarker, GeneticVariation
umls:C0033578Prostatic Neoplasms2Biomarker
umls:C0001973Alcoholism1Biomarker
umls:C0242350Erectile Dysfunction1Biomarker
umls:C0024232Lymphatic Metastasis1Biomarker
umls:C0027626Neoplasm Invasiveness1Biomarker

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

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Pharmacological information for SHBG
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ApprovedDB00421SpironolactoneSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of SHBG go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of SHBG
Multiple alignments for P04278 in multiple species
LBSAA sequence# speciesSpecies
A189FPLVPALDGCI2Mus musculus, Rattus norvegicus
A189LPLVPALDGCL1Homo sapiens
D146LLLWVDGKEML2Mus musculus, Rattus norvegicus
D146VLLEVDGEEVL1Homo sapiens
D79EFRTWDPEGVI2Mus musculus, Rattus norvegicus
D79EVRTWDPEGVI1Homo sapiens
D94TNPKDDWFMLG1Homo sapiens
D94TNTEDDWFLLG1Mus musculus
D94TNTEDDWFMLG1Rattus norvegicus
E81RTWDPEGVIFY3Homo sapiens, Mus musculus, Rattus norvegicus
F85PEGVIFYGDTN3Homo sapiens, Mus musculus, Rattus norvegicus
F96PKDDWFMLGLR1Homo sapiens
F96TEDDWFLLGLR1Mus musculus
F96TEDDWFMLGLR1Rattus norvegicus
G87GVIFYGDTNTE2Mus musculus, Rattus norvegicus
G87GVIFYGDTNPK1Homo sapiens
H112IQLHNHWAQLT1Homo sapiens
H112IQLHNAWARLT1Mus musculus
H112IQLHNLWARLT1Rattus norvegicus
H130DDGRWHQVEVK1Homo sapiens
H130DDGRWHPVELK1Mus musculus
H130NDGRWHPVELK1Rattus norvegicus
H165LTSKRHPIMRI1Homo sapiens
H165LADHSQRSMRI1Mus musculus
H165LADHPQLSMRI1Rattus norvegicus
I170HPIMRIALGGL1Homo sapiens
I170QRSMRIALGGL1Mus musculus
I170QLSMRIALGGL1Rattus norvegicus
K163GPLTSKRHPIM1Homo sapiens
K163ASLADHSQRSM1Mus musculus
K163ASLADHPQLSM1Rattus norvegicus
L109RPEIQLHNHWA1Homo sapiens
L109QLEIQLHNAWA1Mus musculus
L109QLEIQLHNLWA1Rattus norvegicus
L160QVSGPLTSKRH1Homo sapiens
L160QISASLADHSQ1Mus musculus
L160QVSASLADHPQ1Rattus norvegicus
L190PLVPALDGCIR2Mus musculus, Rattus norvegicus
L190PLVPALDGCLR1Homo sapiens
L200RRDIWLGHQAQ2Mus musculus, Rattus norvegicus
L200RRDSWLDKQAE1Homo sapiens
M136PVELKMNGDSL2Mus musculus, Rattus norvegicus
M136QVEVKMEGDSV1Homo sapiens
M168KRHPIMRIALG1Homo sapiens
M168HSQRSMRIALG1Mus musculus
M168HPQLSMRIALG1Rattus norvegicus
N111EIQLHNHWAQL1Homo sapiens
N111EIQLHNAWARL1Mus musculus
N111EIQLHNLWARL1Rattus norvegicus
S70KITKTSSSFEV1Homo sapiens
S70KISKPHSSFEF1Mus musculus
S70KISKPSSSFEF1Rattus norvegicus
S71ITKTSSSFEVR1Homo sapiens
S71ISKPHSSFEFR1Mus musculus
S71ISKPSSSFEFR1Rattus norvegicus
T69TKITKTSSSFE1Homo sapiens
T69TKISKPHSSFE1Mus musculus
T69TKISKPSSSFE1Rattus norvegicus
T89IFYGDTNTEDD2Mus musculus, Rattus norvegicus
T89IFYGDTNPKDD1Homo sapiens
V134WHPVELKMNGD2Mus musculus, Rattus norvegicus
V134WHQVEVKMEGD1Homo sapiens
V141MNGDSLLLWVD2Mus musculus, Rattus norvegicus
V141MEGDSVLLEVD1Homo sapiens
W95NPKDDWFMLGL1Homo sapiens
W95NTEDDWFLLGL1Mus musculus
W95NTEDDWFMLGL1Rattus norvegicus


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