mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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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 SAT2
Gene summary
Basic gene Info.Gene symbolSAT2
Gene namespermidine/spermine N1-acetyltransferase family member 2
SynonymsSSAT2
CytomapUCSC genome browser: 17p13.1
Type of geneprotein-coding
RefGenesNM_133491.3,
Descriptiondiamine N-acetyltransferase 2diamine acetyltransferase 2polyamine N-acetyltransferase 2spermidine/spermine N(1)-acetyltransferase 2spermidine/spermine N1-acetyltransferase 2thialysine N-epsilon-acetyltransferase
Modification date20141207
dbXrefs MIM : 611463
HGNC : HGNC
Ensembl : ENSG00000141504
HPRD : 15296
Vega : OTTHUMG00000108152
ProteinUniProt: Q96F10
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_SAT2
BioGPS: 112483
PathwayNCI Pathway Interaction Database: SAT2
KEGG: SAT2
REACTOME: SAT2
Pathway Commons: SAT2
ContextiHOP: SAT2
ligand binding site mutation search in PubMed: SAT2
UCL Cancer Institute: SAT2
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
GO:0032918spermidine acetylation12803540
GO:0032919spermine acetylation12803540
GO:0032920putrescine acetylation12803540
GO:0046204nor-spermidine metabolic process12803540


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Ligand binding site mutations for SAT2
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
S107S107FCOAD1
V129V129ICOAD1
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 SAT2
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
V129V129I-1.0869941
S107S107F-0.96162432
(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 SAT2 from PDB

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Differential gene expression and gene-gene network for SAT2
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 SAT2 and the right PPI network was created from samples without mutations in the LBS of SAT2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for SAT2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

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Pharmacological information for SAT2
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 SAT2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ACOACETYL COENZYME *A2q4vAS107
ACOACETYL COENZYME *A2beiAS107 V129


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Conservation information for LBS of SAT2
Multiple alignments for Q96F10 in multiple species
LBSAA sequence# speciesSpecies
A128SQFRLAVLDWN2Homo sapiens, Mus musculus
A128RRLDWVVLDWN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A128SQLRLAVLDWN1Bos taurus
A136DWNQRAMDLYK1Homo sapiens
A136DWNQRAIEVYE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A136DWNKKAVNLYK1Mus musculus
A136DWNKRAMDLYK1Bos taurus
D93TIYLEDIYVMP1Homo sapiens
D93GIYLEDLYVRP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D93NVYLEDIYVMP1Mus musculus
D93NIYLEDIYVKP1Bos taurus
E92-TIYLEDIYVM1Homo sapiens
E92VGIYLEDLYVR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E92-NVYLEDIYVM1Mus musculus
E92-NIYLEDIYVK1Bos taurus
G102MPEYRGQGIGS1Homo sapiens
G102RPQFRGKGYGS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G102MPQYRGQGIGT1Mus musculus
G102KPEYRGQGIGS1Bos taurus
G104EYRGQGIGSKI2Homo sapiens, Bos taurus
G104QFRGKGYGSYL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G104QYRGQGIGTKI1Mus musculus
G106RGQGIGSKIIK2Homo sapiens, Bos taurus
G106RGKGYGSYLLS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G106RGQGIGTKIIK1Mus musculus
I105YRGQGIGSKII2Homo sapiens, Bos taurus
I105FRGKGYGSYLL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I105YRGQGIGTKII1Mus musculus
I94IYLEDIYVMPE1Homo sapiens
I94IYLEDLYVRPQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I94VYLEDIYVMPQ1Mus musculus
I94IYLEDIYVKPE1Bos taurus
L127CSQFRLAVLDW2Homo sapiens, Mus musculus
L127GRRLDWVVLDW1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L127CSQLRLAVLDW1Bos taurus
L139QRAMDLYKALG1Homo sapiens
L139QRAIEVYEKAG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L139KKAVNLYKFLG1Mus musculus
L139KRAMDLYKALG1Bos taurus
L24RLIRELAEFEK1Homo sapiens
L24QFIKELAEFEK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L24RMIRELAEFEK1Mus musculus
L24RLIRELAEYEK1Bos taurus
L91R-TIYLEDIYV1Homo sapiens
L91RVGIYLEDLYV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L91R-NVYLEDIYV1Mus musculus
L91R-NIYLEDIYV1Bos taurus
N133AVLDWNQRAMD1Homo sapiens
N133VVLDWNQRAIE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N133AVLDWNKKAVN1Mus musculus
N133AVLDWNKRAMD1Bos taurus
Q103PEYRGQGIGSK2Homo sapiens, Bos taurus
Q103PQFRGKGYGSY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q103PQYRGQGIGTK1Mus musculus
R101VMPEYRGQGIG1Homo sapiens
R101VRPQFRGKGYG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R101VMPQYRGQGIG1Mus musculus
R101VKPEYRGQGIG1Bos taurus
R135LDWNQRAMDLY1Homo sapiens
R135LDWNQRAIEVY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R135LDWNKKAVNLY1Mus musculus
R135LDWNKRAMDLY1Bos taurus
S107GQGIGSKIIKK2Homo sapiens, Bos taurus
S107GKGYGSYLLSY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S107GQGIGTKIIKK1Mus musculus
V129QFRLAVLDWNQ1Homo sapiens
V129RLDWVVLDWNQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V129QFRLAVLDWNK1Mus musculus
V129QLRLAVLDWNK1Bos taurus
V96LEDIYVMPEYR1Homo sapiens
V96LEDLYVRPQFR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V96LEDIYVMPQYR1Mus musculus
V96LEDIYVKPEYR1Bos taurus
Y140RAMDLYKALGA2Homo sapiens, Bos taurus
Y140RAIEVYEKAGA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y140KAVNLYKFLGA1Mus musculus
Y95YLEDIYVMPEY1Homo sapiens
Y95YLEDLYVRPQF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y95YLEDIYVMPQY1Mus musculus
Y95YLEDIYVKPEY1Bos taurus


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