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 HBG2
Gene summary
Basic gene Info.Gene symbolHBG2
Gene namehemoglobin, gamma G
SynonymsHBG-T1|TNCY
CytomapUCSC genome browser: 11p15.5
Type of geneprotein-coding
RefGenesNM_000184.2,
DescriptionG-gamma globin Pauliniaabnormal hemoglobingamma-2-globinhb F Ggammahemoglobin gamma-2 chainhemoglobin gamma-G chainhemoglobin subunit gamma-2methemoglobin
Modification date20141207
dbXrefs MIM : 142250
HGNC : HGNC
Ensembl : ENSG00000196565
HPRD : 00792
ProteinUniProt: P69892
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_HBG2
BioGPS: 3048
PathwayNCI Pathway Interaction Database: HBG2
KEGG: HBG2
REACTOME: HBG2
Pathway Commons: HBG2
ContextiHOP: HBG2
ligand binding site mutation search in PubMed: HBG2
UCL Cancer Institute: HBG2
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


Top
Ligand binding site mutations for HBG2
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
L92E91KSKCM3
N103E102DCOAD1
F104F104LGBM1
F86A87THNSC1
V99D100YLUAD1
L97,V99H98LLUAD1
L142,V138S140TLUSC1
L89Q88RLUSC1
V99V99MPRAD1
S71S71FSKCM1
L72D74NSKCM1
F86A87VSKCM1
N103,V99P101SUCEC1
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 HBG2
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
F86A87V0.047926862
N103E102D-1.2921906
N103P101S-1.0422776
V99P101S-1.0422776
L92E91K-0.98473334
V99V99M-0.93036196
S71S71F-0.90600167
L72D74N-0.77557175
V99D100Y-0.72426468
L89Q88R-0.49585453
F86A87T-0.26425548
L97H98L-0.18953887
V99H98L-0.18953887
V138S140T-0.14104006
L142S140T-0.14104006
F104F104L-0.0218006
(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 HBG2 from PDB
PDB IDPDB titlePDB structure
1FDHSTRUCTURE OF HUMAN FOETAL DEOXYHAEMOGLOBIN

Top
Differential gene expression and gene-gene network for HBG2
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 HBG2 and the right PPI network was created from samples without mutations in the LBS of HBG2. 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 HBG2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C3151421CYANOSIS, TRANSIENT NEONATAL4Biomarker, GeneticVariation
umls:C2609414Acute Kidney Injury2Biomarker
umls:C0028961Oliguria1Biomarker
umls:C0033578Prostatic Neoplasms1Biomarker

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

Top
Pharmacological information for HBG2
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 HBG2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


Top
Conservation information for LBS of HBG2
Multiple alignments for P69892 in multiple species
LBSAA sequence# speciesSpecies
F104VDPENFKLLGN3Homo sapiens, Mus musculus, Pan troglodytes
F104VDPENFKRLAD1Xenopus tropicalis
F104VDPENFRLLGN1Macaca mulatta
F42PWTQRFFDSFG4Homo sapiens, Mus musculus, Pan troglodytes, Macaca mulatta
F42PWTQRYFSSFG1Xenopus tropicalis
F43WTQRFFDSFGN4Homo sapiens, Mus musculus, Pan troglodytes, Macaca mulatta
F43WTQRYFSSFGN1Xenopus tropicalis
F86DLKGTFAQLSE3Homo sapiens, Pan troglodytes, Macaca mulatta
F86DVKSHLKGLSK1Xenopus tropicalis
F86NLKSALAKLSE1Mus musculus
H64PKVKAHGKKVL3Homo sapiens, Pan troglodytes, Macaca mulatta
H64VKVKAHGNKVL1Xenopus tropicalis
H64PRVKAHGKKVL1Mus musculus
H93QLSELHCDKLH3Homo sapiens, Pan troglodytes, Macaca mulatta
H93GLSKSHAEDLH1Xenopus tropicalis
H93KLSELHCDKLH1Mus musculus
K67KAHGKKVLTSL3Homo sapiens, Pan troglodytes, Macaca mulatta
K67KAHGNKVLSAV1Xenopus tropicalis
K67KAHGKKVLTAF1Mus musculus
L107ENFKLLGNVLV3Homo sapiens, Mus musculus, Pan troglodytes
L107ENFKRLADVLV1Xenopus tropicalis
L107ENFRLLGNVLV1Macaca mulatta
L142GVASALSSRYH3Homo sapiens, Pan troglodytes, Macaca mulatta
L142TLVAALSHGYF1Xenopus tropicalis
L142GVATALSHKYH1Mus musculus
L72KVLTSLGDAIK3Homo sapiens, Pan troglodytes, Macaca mulatta
L72KVLSAVGSAIQ1Xenopus tropicalis
L72KVLTAFGESIK1Mus musculus
L89GTFAQLSELHC3Homo sapiens, Pan troglodytes, Macaca mulatta
L89SHLKGLSKSHA1Xenopus tropicalis
L89SALAKLSELHC1Mus musculus
L92AQLSELHCDKL3Homo sapiens, Pan troglodytes, Macaca mulatta
L92KGLSKSHAEDL1Xenopus tropicalis
L92AKLSELHCDKL1Mus musculus
L97LHCDKLHVDPE4Homo sapiens, Mus musculus, Pan troglodytes, Macaca mulatta
L97SHAEDLHVDPE1Xenopus tropicalis
N103HVDPENFKLLG3Homo sapiens, Mus musculus, Pan troglodytes
N103HVDPENFKRLA1Xenopus tropicalis
N103HVDPENFRLLG1Macaca mulatta
S71KKVLTSLGDAI3Homo sapiens, Pan troglodytes, Macaca mulatta
S71NKVLSAVGSAI1Xenopus tropicalis
S71KKVLTAFGESI1Mus musculus
T39VVYPWTQRFFD4Homo sapiens, Mus musculus, Pan troglodytes, Macaca mulatta
T39VVYPWTQRYFS1Xenopus tropicalis
V138KMVTGVASALS2Homo sapiens, Pan troglodytes
V138KLNATLVAALS1Xenopus tropicalis
V138KLVAGVATALS1Mus musculus
V138KMVAGVASALS1Macaca mulatta
V68AHGKKVLTSLG3Homo sapiens, Pan troglodytes, Macaca mulatta
V68AHGNKVLSAVG1Xenopus tropicalis
V68AHGKKVLTAFG1Mus musculus
V99CDKLHVDPENF4Homo sapiens, Mus musculus, Pan troglodytes, Macaca mulatta
V99AEDLHVDPENF1Xenopus tropicalis


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