mutated Ligand Binding Site gene DataBase





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 GZMH
Gene summary
Basic gene Info.Gene symbolGZMH
Gene namegranzyme H (cathepsin G-like 2, protein h-CCPX)
CytomapUCSC genome browser: 14q11.2
Type of geneprotein-coding
Descriptioncytotoxic T-lymphocyte proteinasecytotoxic T-lymphocyte-associated serine esterase 1cytotoxin serine protease-Cgranzyme H
Modification date20141207
dbXrefs MIM : 116831
Ensembl : ENSG00000100450
HPRD : 00290
Vega : OTTHUMG00000140185
ProteinUniProt: P20718
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_GZMH
BioGPS: 2999
PathwayNCI Pathway Interaction Database: GZMH
Pathway Commons: GZMH
ContextiHOP: GZMH
ligand binding site mutation search in PubMed: GZMH
UCL Cancer Institute: GZMH
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for GZMH

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

Protein structure related information for GZMH
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
(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 GZMH from PDB

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


Phenotype information for GZMH
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0031117Peripheral Nervous System Diseases1Biomarker

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

Pharmacological information for GZMH
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.
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 GZMH go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of GZMH
Multiple alignments for P20718 in multiple species
LBSAA sequence# speciesSpecies
C49SRKR-CGGILV1Homo sapiens
C49GKRHSCGGFLV1Mus musculus
C49GKKKYCGGFLV1Mus musculus
C49GNRIYCGGFLI1Mus musculus
C49GNRRYCGGFLV1Mus musculus
D201TPFKGDSGGPL2Mus musculus, Mus musculus
D201TGFKGDSGGPL1Homo sapiens
D201STYSGDSGGPL1Mus musculus
D201APYEGESGGPL1Mus musculus
F198KIKTPFKGDSG2Mus musculus, Mus musculus
F198KTQTGFKGDSG1Homo sapiens
F198KIQSTYSGDSG1Mus musculus
F198KVQAPYEGESG1Mus musculus
G197KKIKTPFKGDS2Mus musculus, Mus musculus
G197KKTQTGFKGDS1Homo sapiens
G197KKIQSTYSGDS1Mus musculus
G197KKVQAPYEGES1Mus musculus
G200KTPFKGDSGGP2Mus musculus, Mus musculus
G200QTGFKGDSGGP1Homo sapiens
G200QSTYSGDSGGP1Mus musculus
G200QAPYEGESGGP1Mus musculus
G219GILSYGNKKGT1Homo sapiens
G219GVLTYGLNRTI1Mus musculus
G219GVVSYGINRTI1Mus musculus
G219GLFAYAKNGTI1Mus musculus
G219GLLAYAKNRTI1Mus musculus
G223YGNKKGTPPGV1Homo sapiens
G223YGLNRTIGPGV1Mus musculus
G223YGINRTITPGV1Mus musculus
G223YAKNGTISSGI1Mus musculus
G223YAKNRTISSGV1Mus musculus
H64VLTAAHCRN--2Mus musculus, Mus musculus
H64VLTAAHCQG--1Homo sapiens
H64VLTAAHCTG--1Mus musculus
H64VLTAAHCKNSS1Mus musculus
K199IKTPFKGDSGG2Mus musculus, Mus musculus
K199TQTGFKGDSGG1Homo sapiens
K199IQSTYSGDSGG1Mus musculus
K199VQAPYEGESGG1Mus musculus
K221LSYGNKKGTPP1Homo sapiens
K221LTYGLNRTIGP1Mus musculus
K221VSYGINRTITP1Mus musculus
K221FAYAKNGTISS1Mus musculus
K221LAYAKNRTISS1Mus musculus
K47QEKSRKR-CGG1Homo sapiens
K47KDNGKRHSCGG1Mus musculus
K47DIEGKKKYCGG1Mus musculus
K47DIKGNRIYCGG1Mus musculus
K47DIEGNRRYCGG1Mus musculus
K80GAHNIKAKEET2Mus musculus, Mus musculus
K80GAHNIKEQERT1Homo sapiens
K80GAHNIRAKEET1Mus musculus
K80GAHNITAKEET1Mus musculus
L155RSINDTKASAR2Mus musculus, Mus musculus
L155VSMSTL--ATT1Homo sapiens
L155TSINATQRSSC1Mus musculus
L155TSINATKASAR1Mus musculus
N179RLFHGNYSRAT1Homo sapiens
N179KYFY-KYFKTM1Mus musculus
N179KLWY-TYSKTT1Mus musculus
N179KRFR-YYTETT1Mus musculus
N179KRFR-HYTETT1Mus musculus
N220ILSYGNKKGTP1Homo sapiens
N220VLTYGLNRTIG1Mus musculus
N220VVSYGINRTIT1Mus musculus
N220LFAYAKNGTIS1Mus musculus
N220LLAYAKNRTIS1Mus musculus
Q39YMAFVQFLQEK1Homo sapiens
Q39YMARVRFVKDN1Mus musculus
Q39YMAFIKSVDIE1Mus musculus
Q39YMAFVMSVDIK1Mus musculus
Q39YMAFVKSVDIE1Mus musculus
R46LQEKSRKR-CG1Homo sapiens
R46VKDNGKRHSCG1Mus musculus
R46VDIEGKKKYCG1Mus musculus
R46VDIKGNRIYCG1Mus musculus
R46VDIEGNRRYCG1Mus musculus
R48EKSRKR-CGGI1Homo sapiens
R48DNGKRHSCGGF1Mus musculus
R48IEGKKKYCGGF1Mus musculus
R48IKGNRIYCGGF1Mus musculus
R48IEGNRRYCGGF1Mus musculus
S202PFKGDSGGPLV2Mus musculus, Mus musculus
S202GFKGDSGGPLV1Homo sapiens
S202TYSGDSGGPLV1Mus musculus
S202PYEGESGGPLV1Mus musculus
S217AQGILSYGNKK1Homo sapiens
S217AYGVLTYGLNR1Mus musculus
S217AYGVVSYGINR1Mus musculus
S217AYGLFAYAKNG1Mus musculus
S217AYGLLAYAKNR1Mus musculus
Y218QGILSYGNKKG1Homo sapiens
Y218YGVLTYGLNRT1Mus musculus
Y218YGVVSYGINRT1Mus musculus
Y218YGLFAYAKNGT1Mus musculus
Y218YGLLAYAKNRT1Mus musculus

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