mutLBSgeneDB |
Gene summary for GC |
Gene summary |
Basic gene Info. | Gene symbol | GC |
Gene name | group-specific component (vitamin D binding protein) | |
Synonyms | DBP|DBP/GC|GRD3|HEL-S-51|VDBG|VDBP | |
Cytomap | UCSC genome browser: 4q12-q13 | |
Type of gene | protein-coding | |
RefGenes | NM_000583.3, NM_001204306.1,NM_001204307.1, | |
Description | VDBepididymis secretory protein Li 51gc-globulinvitamin D-binding alpha-globulinvitamin D-binding protein | |
Modification date | 20141207 | |
dbXrefs | MIM : 139200 | |
HGNC : HGNC | ||
Ensembl : ENSG00000145321 | ||
HPRD : 00749 | ||
Vega : OTTHUMG00000129915 | ||
Protein | UniProt: P02774 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_GC | |
BioGPS: 2638 | ||
Pathway | NCI Pathway Interaction Database: GC | |
KEGG: GC | ||
REACTOME: GC | ||
Pathway Commons: GC | ||
Context | iHOP: GC | |
ligand binding site mutation search in PubMed: GC | ||
UCL Cancer Institute: GC | ||
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 GC |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | K51 | R50T | BLCA | 1 | S95 | K94M | LUAD | 1 | M123 | C122S | LUAD | 1 | L63 | S61N | LUAD | 1 | F52 | S54R | LUSC | 1 | F40 | E38K | SKCM | 1 | E24 | E24K | SKCM | 1 | E24,V28 | N26T | UCEC | 1 | Y48 | Y48F | 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 GC |
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. |
LBS | AAchange of nsSNV | Relative stability change | K51 | R50T | -1.3456279 | E24 | E24K | -1.3367227 | M123 | C122S | -1.2047994 | F40 | E38K | -1.1113604 | S95 | K94M | -0.83725545 | V28 | N26T | -0.80012296 | E24 | N26T | -0.80012296 | Y48 | Y48F | -0.47796368 | F52 | S54R | -0.29804406 | L63 | S61N | -0.010708316 |
(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 GC from PDB |
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Differential gene expression and gene-gene network for GC |
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 GC |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0162557 | Liver Failure, Acute | 4 | AlteredExpression, Biomarker |
umls:C0018213 | Graves Disease | 3 | Biomarker, GeneticVariation |
umls:C0003873 | Arthritis, Rheumatoid | 3 | Biomarker, GeneticVariation |
umls:C0005944 | Bone Diseases, Metabolic | 1 | Biomarker |
umls:C0860207 | Drug-Induced Liver Injury | 1 | Biomarker |
umls:C0019151 | Hepatic Encephalopathy | 1 | Biomarker |
umls:C0023890 | Liver Cirrhosis | 1 | Biomarker |
umls:C0024121 | Lung Neoplasms | 1 | Biomarker |
umls:C0036983 | Shock, Septic | 1 | Biomarker |
umls:C0043251 | Wounds and Injuries | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for GC |
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 status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of GC 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 GC |
Multiple alignments for P02774 in multiple species |
LBS | AA sequence | # species | Species | E24 | RGRDYEKDKVC | 2 | Mus musculus, Bos taurus | E24 | RGRDYEKNKVC | 1 | Homo sapiens | E31 | NKVCKEFSHLG | 1 | Homo sapiens | E31 | DKVCNELAMLG | 1 | Mus musculus | E31 | DKVCKDLASLG | 1 | Bos taurus | F40 | LGKEDFTSLSL | 1 | Homo sapiens | F40 | LGKEDFRSLSL | 1 | Mus musculus | F40 | LGREDFTSLSM | 1 | Bos taurus | F52 | LYSRKFPSGTF | 2 | Homo sapiens, Bos taurus | F52 | LYSRKFSSSTF | 1 | Mus musculus | K51 | VLYSRKFPSGT | 2 | Homo sapiens, Bos taurus | K51 | ILYSRKFSSST | 1 | Mus musculus | L43 | EDFTSLSLVLY | 1 | Homo sapiens | L43 | EDFRSLSLILY | 1 | Mus musculus | L43 | EDFTSLSMVLY | 1 | Bos taurus | L47 | SLSLVLYSRKF | 1 | Homo sapiens | L47 | SLSLILYSRKF | 1 | Mus musculus | L47 | SLSMVLYSRKF | 1 | Bos taurus | L63 | EQVSQLVKEVV | 1 | Homo sapiens | L63 | EQVNQLVKEVV | 1 | Mus musculus | L63 | EQISHLVNEVV | 1 | Bos taurus | L91 | TRTSALSAKSC | 1 | Homo sapiens | L91 | TRTSELSVKSC | 1 | Mus musculus | L91 | NRTSALSDKSC | 1 | Bos taurus | M123 | ERKLCMAALKH | 1 | Homo sapiens | M123 | ERKLCMAALSH | 1 | Mus musculus | M123 | EKKLCMAALKH | 1 | Bos taurus | S44 | DFTSLSLVLYS | 1 | Homo sapiens | S44 | DFRSLSLILYS | 1 | Mus musculus | S44 | DFTSLSMVLYS | 1 | Bos taurus | S92 | RTSALSAKSCE | 1 | Homo sapiens | S92 | RTSELSVKSCE | 1 | Mus musculus | S92 | RTSALSDKSCE | 1 | Bos taurus | S95 | ALSAKSCESNS | 1 | Homo sapiens | S95 | ELSVKSCESDA | 1 | Mus musculus | S95 | ALSDKSCESNS | 1 | Bos taurus | V28 | YEKNKVCKEFS | 1 | Homo sapiens | V28 | YEKDKVCNELA | 1 | Mus musculus | V28 | YEKDKVCKDLA | 1 | Bos taurus | Y48 | LSLVLYSRKFP | 1 | Homo sapiens | Y48 | LSLILYSRKFS | 1 | Mus musculus | Y48 | LSMVLYSRKFP | 1 | Bos taurus | Y84 | ADPDCYDTRTS | 1 | Homo sapiens | Y84 | ADPTCYDTRTS | 1 | Mus musculus | Y84 | ADPDCYDNRTS | 1 | Bos taurus |
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