mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

Home

Download

 Statistics

Help

About Us
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 GSG2
Gene summary
Basic gene Info.Gene symbolGSG2
Gene namegerm cell associated 2 (haspin)
SynonymsHASPIN
CytomapUCSC genome browser: 17p13
Type of geneprotein-coding
RefGenesNM_031965.2,
DescriptionH-haspingerm cell-specific gene 2 proteinhaploid germ cell-specific nuclear protein kinaseserine/threonine-protein kinase haspin
Modification date20141207
dbXrefs MIM : 609240
HGNC : HGNC
Ensembl : ENSG00000177602
HPRD : 17083
Vega : OTTHUMG00000090703
ProteinUniProt: Q8TF76
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_GSG2
BioGPS: 83903
PathwayNCI Pathway Interaction Database: GSG2
KEGG: GSG2
REACTOME: GSG2
Pathway Commons: GSG2
ContextiHOP: GSG2
ligand binding site mutation search in PubMed: GSG2
UCL Cancer Institute: GSG2
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:0006468protein phosphorylation11228240
GO:0035556intracellular signal transduction11228240


Top
Ligand binding site mutations for GSG2

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
D714D714HLUAD1
I557G558RSKCM1
A509A509VSKCM1
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.


Top
Protein structure related information for GSG2
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
D714D714H-0.70628036
A509A509V-0.69221027
I557G558R-0.57445417
(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 GSG2 from PDB

Top
Differential gene expression and gene-gene network for GSG2
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 GSG2 and the right PPI network was created from samples without mutations in the LBS of GSG2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Top

Top
Phenotype information for GSG2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

Top
Pharmacological information for GSG2

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ExperimentalDB046045-iodotubercidinSmall molecule
ExperimentalDB076983-(3-aminophenyl)-N-(3-chlorophenyl)pyrazolo[1,5-a]pyrimidin-5-amineSmall molecule
ExperimentalDB07995N-[2-(4-BROMOCINNAMYLAMINO)ETHYL]-5-ISOQUINOLINE SULFONAMIDESmall molecule
ExperimentalDB08004(2S)-2-{[3-(3-aminophenyl)imidazo[1,2-b]pyridazin-6-yl]amino}-3-methylbutan-1-olSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of GSG2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
5ID5-IODOTUBERCIDIN2vuwAA509
DZO3-(3-AMINOPHENYL)-N-(3-CHLOROPHENYL)PYRAZOLO[1,5-A]PYRIMIDIN-5-AMINE3e7vAA509
IZZ(2S)-2-{[3-(3-AMINOPHENYL)IMIDAZO[1,2-B]PYRIDAZIN-6-YL]AMINO}-3-METHYLBUTAN-1-OL3f2nAA509
5ID5-IODOTUBERCIDIN3iq7AA509
5ID5-IODOTUBERCIDIN4oucAA509
AMPAMP3dlzAA509 I557
IQBH-893fmdAA509 I557
38Z(3R)-1-(2-OXO-2-{4-[4-(PYRIMIDIN-2-YL)PHENYL]PIPERAZIN- 1-YL}ETHYL)-N-[3-(PYRIDIN-4-YL)-2H-INDAZOL-5- YL]PYRROLIDINE-3-CARBOXAMIDE4qtcAA509 I557
IIIPeptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA)4oucAD714


Top
Conservation information for LBS of GSG2
Multiple alignments for Q8TF76 in multiple species
LBSAA sequence# speciesSpecies
A509DHTPVAIKIIA1Homo sapiens
A509DQAPVALKIIA1Mus musculus
A509NHTPVALKIIA1Bos taurus
A587STKGSANDRPD2Homo sapiens, Bos taurus
A587TTKRSANDRPD1Mus musculus
D611EFGGIDLEQMR2Homo sapiens, Bos taurus
D611EFGGVDLERMK1Mus musculus
D649HFEHRDLHWGN2Mus musculus, Bos taurus
D649RFEHRDLHWGN1Homo sapiens
D687QVNIIDYTLSR2Mus musculus, Bos taurus
D687QVSIIDYTLSR1Homo sapiens
D707CDVSMDEDLFT1Homo sapiens
D707CDISAEEDLFT1Mus musculus
D707CDISRDEDLFM1Bos taurus
D709VSMDEDLFTGD1Homo sapiens
D709ISAEEDLFTGE1Mus musculus
D709ISRDEDLFMGQ1Bos taurus
D714DLFTGDGDYQF1Homo sapiens
D714DLFTGEGDYQF1Mus musculus
D714DLFMGQGDYQF1Bos taurus
D716FTGDGDYQFDI1Homo sapiens
D716FTGEGDYQFEI1Mus musculus
D716FMGQGDYQFEI1Bos taurus
E492CEKIGEGVFGE3Homo sapiens, Mus musculus, Bos taurus
E606IVLEFEFGGID2Homo sapiens, Bos taurus
E606IILEFEFGGVD1Mus musculus
E613GGIDLEQMRTK1Homo sapiens
E613GGVDLERMKTK1Mus musculus
E613GGIDLEQMRKK1Bos taurus
F495IGEGVFGEVFQ3Homo sapiens, Mus musculus, Bos taurus
F605FIVLEFEFGGI2Homo sapiens, Bos taurus
F605FIILEFEFGGV1Mus musculus
F607VLEFEFGGIDL2Homo sapiens, Bos taurus
F607ILEFEFGGVDL1Mus musculus
F719DGDYQFDIYRL1Homo sapiens
F719EGDYQFEIYRL1Mus musculus
F719QGDYQFEIYRL1Bos taurus
G491RCEKIGEGVFG2Homo sapiens, Mus musculus
G491CCEKIGEGVFG1Bos taurus
G493EKIGEGVFGEV3Homo sapiens, Mus musculus, Bos taurus
G585YNSTKGSANDR1Homo sapiens
G585YNTTKRSANDR1Mus musculus
G585YHSTKGSANDR1Bos taurus
G608LEFEFGGIDLE2Homo sapiens, Bos taurus
G608LEFEFGGVDLE1Mus musculus
G609EFEFGGIDLEQ2Homo sapiens, Bos taurus
G609EFEFGGVDLER1Mus musculus
G653RDLHWGNVLLK3Homo sapiens, Mus musculus, Bos taurus
G713EDLFTGDGDYQ1Homo sapiens
G713EDLFTGEGDYQ1Mus musculus
G713EDLFMGQGDYQ1Bos taurus
H651EHRDLHWGNVL3Homo sapiens, Mus musculus, Bos taurus
I490QRCEKIGEGVF1Homo sapiens
I490ERCEKIGEGVF1Mus musculus
I490ECCEKIGEGVF1Bos taurus
I557RTEGFIGLNSV3Homo sapiens, Mus musculus, Bos taurus
I686LQVNIIDYTLS2Mus musculus, Bos taurus
I686LQVSIIDYTLS1Homo sapiens
K511TPVAIKIIAIE1Homo sapiens
K511APVALKIIAIE1Mus musculus
K511TPVALKIIAIE1Bos taurus
K584HYNSTKGSAND1Homo sapiens
K584HYNTTKRSAND1Mus musculus
K584HYHSTKGSAND1Bos taurus
K751HYLTDKMLKQM1Homo sapiens
K751HYLTDKILNKM1Mus musculus
K751HYLTDKILNQM1Bos taurus
L656HWGNVLLKKTS2Homo sapiens, Bos taurus
L656HWGNVLLKKTN1Mus musculus
L710SMDEDLFTGDG1Homo sapiens
L710SAEEDLFTGEG1Mus musculus
L710SRDEDLFMGQG1Bos taurus
N588TKGSANDRPDF2Homo sapiens, Bos taurus
N588TKRSANDRPDF1Mus musculus
N654DLHWGNVLLKK3Homo sapiens, Mus musculus, Bos taurus
Q614GIDLEQMRTKL1Homo sapiens
Q614GVDLERMKTKL1Mus musculus
Q614GIDLEQMRKKL1Bos taurus
Q718GDGDYQFDIYR1Homo sapiens
Q718GEGDYQFEIYR1Mus musculus
Q718GQGDYQFEIYR1Bos taurus
S586NSTKGSANDRP1Homo sapiens
S586NTTKRSANDRP1Mus musculus
S586HSTKGSANDRP1Bos taurus
V494KIGEGVFGEVF3Homo sapiens, Mus musculus, Bos taurus
V498GVFGEVFQTIA1Homo sapiens
V498GVFGEVFQIIN1Mus musculus
V498GVFGEVFQTVT1Bos taurus
W652HRDLHWGNVLL3Homo sapiens, Mus musculus, Bos taurus
Y580KAWDHYNSTKG1Homo sapiens
Y580KAWDHYNTTKR1Mus musculus
Y580QAWDHYHSTKG1Bos taurus
Y722YQFEIYRLMRK2Mus musculus, Bos taurus
Y722YQFDIYRLMKK1Homo sapiens
Y747VLWLHYLTDKI2Mus musculus, Bos taurus
Y747VLWLHYLTDKM1Homo sapiens


Copyright © 2016-Present - The University of Texas Health Science Center at Houston
Site Policies | State of Texas