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mutLBSgeneDB |
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| Gene summary for SHBG |
 Gene summary |
| Basic gene Info. | Gene symbol | SHBG |
| Gene name | sex hormone-binding globulin | |
| Synonyms | ABP|SBP|TEBG | |
| Cytomap | UCSC genome browser: 17p13.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001040.4, NM_001146279.2,NM_001146280.2,NM_001146281.2,NM_001289113.1, NM_001289114.1,NM_001289115.1,NM_001289116.1, | |
| Description | sex steroid-binding proteintestis-specific androgen-binding proteintestosterone-binding beta-globulintestosterone-estradiol-binding globulintestosterone-estrogen-binding globulin | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 182205 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000129214 | ||
| HPRD : 01646 | ||
| Vega : OTTHUMG00000108153 | ||
| Protein | UniProt: P04278 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SHBG | |
| BioGPS: 6462 | ||
| Pathway | NCI Pathway Interaction Database: SHBG | |
| KEGG: SHBG | ||
| REACTOME: SHBG | ||
| Pathway Commons: SHBG | ||
| Context | iHOP: SHBG | |
| ligand binding site mutation search in PubMed: SHBG | ||
| UCL Cancer Institute: SHBG | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | V141 | D139V | STAD | 1 | H165,K163 | R164H | STAD | 1 | L160 | P159L | UCEC | 1 | I170 | L172I | UCEC | 1 |
| 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 |
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| 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. |
| LBS | AAchange of nsSNV | Relative stability change | K163 | R164H | -1.6694152 | H165 | R164H | -1.6694152 | L160 | P159L | -1.0378314 | I170 | L172I | -0.94333181 | V141 | D139V | -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) |
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| Phenotype information for SHBG |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0011860 | Diabetes Mellitus, Type 2 | 13 | Biomarker, GeneticVariation |
| umls:C0524620 | Metabolic Syndrome X | 10 | Biomarker, GeneticVariation |
| umls:C0033578 | Prostatic Neoplasms | 2 | Biomarker |
| umls:C0001973 | Alcoholism | 1 | Biomarker |
| umls:C0242350 | Erectile Dysfunction | 1 | Biomarker |
| umls:C0024232 | Lymphatic Metastasis | 1 | Biomarker |
| umls:C0027626 | Neoplasm Invasiveness | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype 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. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved | DB00421 | Spironolactone | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of SHBG go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of SHBG |
| Multiple alignments for P04278 in multiple species |
| LBS | AA sequence | # species | Species | A189 | FPLVPALDGCI | 2 | Mus musculus, Rattus norvegicus | A189 | LPLVPALDGCL | 1 | Homo sapiens | D146 | LLLWVDGKEML | 2 | Mus musculus, Rattus norvegicus | D146 | VLLEVDGEEVL | 1 | Homo sapiens | D79 | EFRTWDPEGVI | 2 | Mus musculus, Rattus norvegicus | D79 | EVRTWDPEGVI | 1 | Homo sapiens | D94 | TNPKDDWFMLG | 1 | Homo sapiens | D94 | TNTEDDWFLLG | 1 | Mus musculus | D94 | TNTEDDWFMLG | 1 | Rattus norvegicus | E81 | RTWDPEGVIFY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F85 | PEGVIFYGDTN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F96 | PKDDWFMLGLR | 1 | Homo sapiens | F96 | TEDDWFLLGLR | 1 | Mus musculus | F96 | TEDDWFMLGLR | 1 | Rattus norvegicus | G87 | GVIFYGDTNTE | 2 | Mus musculus, Rattus norvegicus | G87 | GVIFYGDTNPK | 1 | Homo sapiens | H112 | IQLHNHWAQLT | 1 | Homo sapiens | H112 | IQLHNAWARLT | 1 | Mus musculus | H112 | IQLHNLWARLT | 1 | Rattus norvegicus | H130 | DDGRWHQVEVK | 1 | Homo sapiens | H130 | DDGRWHPVELK | 1 | Mus musculus | H130 | NDGRWHPVELK | 1 | Rattus norvegicus | H165 | LTSKRHPIMRI | 1 | Homo sapiens | H165 | LADHSQRSMRI | 1 | Mus musculus | H165 | LADHPQLSMRI | 1 | Rattus norvegicus | I170 | HPIMRIALGGL | 1 | Homo sapiens | I170 | QRSMRIALGGL | 1 | Mus musculus | I170 | QLSMRIALGGL | 1 | Rattus norvegicus | K163 | GPLTSKRHPIM | 1 | Homo sapiens | K163 | ASLADHSQRSM | 1 | Mus musculus | K163 | ASLADHPQLSM | 1 | Rattus norvegicus | L109 | RPEIQLHNHWA | 1 | Homo sapiens | L109 | QLEIQLHNAWA | 1 | Mus musculus | L109 | QLEIQLHNLWA | 1 | Rattus norvegicus | L160 | QVSGPLTSKRH | 1 | Homo sapiens | L160 | QISASLADHSQ | 1 | Mus musculus | L160 | QVSASLADHPQ | 1 | Rattus norvegicus | L190 | PLVPALDGCIR | 2 | Mus musculus, Rattus norvegicus | L190 | PLVPALDGCLR | 1 | Homo sapiens | L200 | RRDIWLGHQAQ | 2 | Mus musculus, Rattus norvegicus | L200 | RRDSWLDKQAE | 1 | Homo sapiens | M136 | PVELKMNGDSL | 2 | Mus musculus, Rattus norvegicus | M136 | QVEVKMEGDSV | 1 | Homo sapiens | M168 | KRHPIMRIALG | 1 | Homo sapiens | M168 | HSQRSMRIALG | 1 | Mus musculus | M168 | HPQLSMRIALG | 1 | Rattus norvegicus | N111 | EIQLHNHWAQL | 1 | Homo sapiens | N111 | EIQLHNAWARL | 1 | Mus musculus | N111 | EIQLHNLWARL | 1 | Rattus norvegicus | S70 | KITKTSSSFEV | 1 | Homo sapiens | S70 | KISKPHSSFEF | 1 | Mus musculus | S70 | KISKPSSSFEF | 1 | Rattus norvegicus | S71 | ITKTSSSFEVR | 1 | Homo sapiens | S71 | ISKPHSSFEFR | 1 | Mus musculus | S71 | ISKPSSSFEFR | 1 | Rattus norvegicus | T69 | TKITKTSSSFE | 1 | Homo sapiens | T69 | TKISKPHSSFE | 1 | Mus musculus | T69 | TKISKPSSSFE | 1 | Rattus norvegicus | T89 | IFYGDTNTEDD | 2 | Mus musculus, Rattus norvegicus | T89 | IFYGDTNPKDD | 1 | Homo sapiens | V134 | WHPVELKMNGD | 2 | Mus musculus, Rattus norvegicus | V134 | WHQVEVKMEGD | 1 | Homo sapiens | V141 | MNGDSLLLWVD | 2 | Mus musculus, Rattus norvegicus | V141 | MEGDSVLLEVD | 1 | Homo sapiens | W95 | NPKDDWFMLGL | 1 | Homo sapiens | W95 | NTEDDWFLLGL | 1 | Mus musculus | W95 | NTEDDWFMLGL | 1 | Rattus norvegicus |
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