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 GALNT2
Gene summary
Basic gene Info.Gene symbolGALNT2
Gene namepolypeptide N-acetylgalactosaminyltransferase 2
SynonymsGalNAc-T2
CytomapUCSC genome browser: 1q41-q42
Type of geneprotein-coding
RefGenesNM_001291866.1,
NM_004481.4,NR_120373.1,
DescriptionUDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 2UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)polypeptide GalNAc transferase 2pp-GaNTase 2
Modification date20141222
dbXrefs MIM : 602274
HGNC : HGNC
Ensembl : ENSG00000143641
HPRD : 03782
Vega : OTTHUMG00000037771
ProteinUniProt: Q10471
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_GALNT2
BioGPS: 2590
PathwayNCI Pathway Interaction Database: GALNT2
KEGG: GALNT2
REACTOME: GALNT2
Pathway Commons: GALNT2
ContextiHOP: GALNT2
ligand binding site mutation search in PubMed: GALNT2
UCL Cancer Institute: GALNT2
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:0002378immunoglobulin biosynthetic process12438318
GO:0006493protein O-linked glycosylation16434399
GO:0016266O-glycan processing18562306
GO:0018242protein O-linked glycosylation via serine12438318
GO:0018243protein O-linked glycosylation via threonine12438318


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Ligand binding site mutations for GALNT2

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
A266A266VCOAD1
W282Y284CCOAD1
V279N277SCOAD1
A266A266THNSC1
I253,V255D254NUCEC1
A266A266PUCEC1
R201R200QUCEC1
G265G265EUCEC1
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 GALNT2
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
G265G265E0.17347839
W282Y284C-1.3581129
R201R200Q-1.241209
I253D254N-1.2009339
V255D254N-1.2009339
V279N277S-1.1522047
A266A266T-1.0359011
A266A266P-0.92392641
A266A266V-0.75171164
(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 GALNT2 from PDB

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Differential gene expression and gene-gene network for GALNT2
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 GALNT2 and the right PPI network was created from samples without mutations in the LBS of GALNT2. 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 GALNT2
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 GALNT2
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 GALNT2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (SER,THR,CYS,PRO,ALA)4d11DA266 W282
IIIPeptide ligand (SER,THR,CYS,PRO,ALA)4d11EA266 W282
IIIPeptide ligand (SER,THR,CYS,PRO,ALA)4d0zBI253 A266 W282
IIIPeptide ligand (SER,THR,CYS,PRO,ALA)4d0zEI253 A266 W282
IIIPeptide ligand (SER,THR,CYS,PRO,ALA)4d11AI253 A266 W282
IIIPeptide ligand (SER,THR,CYS,PRO,ALA)4d11CI253 A266 W282
IIIPeptide ligand (THR,THR,PRO,ALA,PRO,THR)4d0tBI253 V255 A266 W282
IIIPeptide ligand (SER,THR,CYS,PRO,ALA)4d11BI253 V255 A266 W282
IIIPeptide ligand (SER,THR,THR,PRO,ALA,PRO,THR,THR,LYS)2ffuAI253 V255 G265 A266 W282
IIIPeptide ligand (ASP,SER,THR,THR,PRO,ALA,PRO)4d0tCI253 W282
UDPURIDINE-DIPHOSPHATE2ffuAR201
UDPURIDINE-DIPHOSPHATE2ffvAR201
UDPURIDINE-DIPHOSPHATE2ffvBR201
UD2URIDINE DIPHOSPHATE N-ACETYLGALACTOSAMINE4d0tAR201
UD2URIDINE DIPHOSPHATE N-ACETYLGALACTOSAMINE4d0tBR201
UDPURIDINE-DIPHOSPHATE4d0tCR201
UD2URIDINE DIPHOSPHATE N-ACETYLGALACTOSAMINE4d0tDR201
UD2URIDINE DIPHOSPHATE N-ACETYLGALACTOSAMINE4d0tER201
UD2URIDINE DIPHOSPHATE N-ACETYLGALACTOSAMINE4d0tFR201
HWUURIDINE DIPHOSPHO-5-THIO-N- ACETYLGALACTOSAMINE(2R,3R,4R,5R,6S)-3-(ACETYLAMINO)-4,5- DIHYDROXY-6-(HYDROXYMETHYL)TETRAHYDRO-2H-THIOPYRAN-2- YL [(2R,3S,4R,5R)-5-(2,4-DIOXO-3,4- DIHYDROPYRIMIDIN-1(2H)-YL)-3,4- DIHYDROXYTETRAHYDROFURAN-2-YL]METHYL DIHYDROGEN DIPHOSPHATE4d0zAR201
HWUURIDINE DIPHOSPHO-5-THIO-N- ACETYLGALACTOSAMINE(2R,3R,4R,5R,6S)-3-(ACETYLAMINO)-4,5- DIHYDROXY-6-(HYDROXYMETHYL)TETRAHYDRO-2H-THIOPYRAN-2- YL [(2R,3S,4R,5R)-5-(2,4-DIOXO-3,4- DIHYDROPYRIMIDIN-1(2H)-YL)-3,4- DIHYDROXYTETRAHYDROFURAN-2-YL]METHYL DIHYDROGEN DIPHOSPHATE4d0zBR201
HWUURIDINE DIPHOSPHO-5-THIO-N- ACETYLGALACTOSAMINE(2R,3R,4R,5R,6S)-3-(ACETYLAMINO)-4,5- DIHYDROXY-6-(HYDROXYMETHYL)TETRAHYDRO-2H-THIOPYRAN-2- YL [(2R,3S,4R,5R)-5-(2,4-DIOXO-3,4- DIHYDROPYRIMIDIN-1(2H)-YL)-3,4- DIHYDROXYTETRAHYDROFURAN-2-YL]METHYL DIHYDROGEN DIPHOSPHATE4d0zCR201
HWUURIDINE DIPHOSPHO-5-THIO-N- ACETYLGALACTOSAMINE(2R,3R,4R,5R,6S)-3-(ACETYLAMINO)-4,5- DIHYDROXY-6-(HYDROXYMETHYL)TETRAHYDRO-2H-THIOPYRAN-2- YL [(2R,3S,4R,5R)-5-(2,4-DIOXO-3,4- DIHYDROPYRIMIDIN-1(2H)-YL)-3,4- DIHYDROXYTETRAHYDROFURAN-2-YL]METHYL DIHYDROGEN DIPHOSPHATE4d0zDR201
HWUURIDINE DIPHOSPHO-5-THIO-N- ACETYLGALACTOSAMINE(2R,3R,4R,5R,6S)-3-(ACETYLAMINO)-4,5- DIHYDROXY-6-(HYDROXYMETHYL)TETRAHYDRO-2H-THIOPYRAN-2- YL [(2R,3S,4R,5R)-5-(2,4-DIOXO-3,4- DIHYDROPYRIMIDIN-1(2H)-YL)-3,4- DIHYDROXYTETRAHYDROFURAN-2-YL]METHYL DIHYDROGEN DIPHOSPHATE4d0zER201
HWUURIDINE DIPHOSPHO-5-THIO-N- ACETYLGALACTOSAMINE(2R,3R,4R,5R,6S)-3-(ACETYLAMINO)-4,5- DIHYDROXY-6-(HYDROXYMETHYL)TETRAHYDRO-2H-THIOPYRAN-2- YL [(2R,3S,4R,5R)-5-(2,4-DIOXO-3,4- DIHYDROPYRIMIDIN-1(2H)-YL)-3,4- DIHYDROXYTETRAHYDROFURAN-2-YL]METHYL DIHYDROGEN DIPHOSPHATE4d0zFR201
UDPURIDINE-DIPHOSPHATE4d11AR201
UDPURIDINE-DIPHOSPHATE4d11BR201
UDPURIDINE-DIPHOSPHATE4d11CR201
UDPURIDINE-DIPHOSPHATE4d11DR201
UDPURIDINE-DIPHOSPHATE4d11ER201
UDPURIDINE-DIPHOSPHATE4d11FR201
UDPURIDINE-DIPHOSPHATE5ajpAR201
IIIPeptide ligand (ALA,GLY,THR,THR,PRO,SER,PRO,VAL,PRO,THR,THR,SER,THR,THR,SER,ALA)5ajoAV255 A266 W282
IIIPeptide ligand (GLY,THR,THR,PRO,SER,PRO,VAL,PRO,THR,THR,SER,THR,CYS,SER,ALA)5ajnAV255 W282
IIIPeptide ligand (THR,THR,PRO,SER,PRO,VAL,PRO,THR,THR,SER,THR,THR,SER,ALA)5ajpAV255 W282
A2GALPHA-GALNAC5ajoAV279


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Conservation information for LBS of GALNT2
Multiple alignments for Q10471 in multiple species
LBSAA sequence# speciesSpecies
A266FQYVGASADLK2Homo sapiens, Mus musculus
A266FNYVGASADLR1Caenorhabditis elegans
A266FQYIGASADLR1Drosophila melanogaster
A307KTPMIAGGLFV2Homo sapiens, Mus musculus
A307RSPTMAGGLFA1Caenorhabditis elegans
A307RTPMIAGGLFV1Drosophila melanogaster
A464TLGHFADGVVG2Homo sapiens, Mus musculus
A464SMARKESEAPG1Caenorhabditis elegans
A464TMGHLIDGTVG1Drosophila melanogaster
A476YECHNAGGNQE2Homo sapiens, Mus musculus
A476FGCHGTGGNQE1Caenorhabditis elegans
A476FPCHNTGGNQE1Drosophila melanogaster
D176IILVDDYSNDP2Homo sapiens, Mus musculus
D176IVLVDDNSQDV1Caenorhabditis elegans
D176IVLVDDYSDHP1Drosophila melanogaster
D224VLTFLDSHCEC2Homo sapiens, Mus musculus
D224VLTFLDSHIEC1Caenorhabditis elegans
D224VLTFLDSHVEC1Drosophila melanogaster
D458GTNCLDTLGHF2Homo sapiens, Mus musculus
D458GNLCLDSMARK1Caenorhabditis elegans
D458STECLDTMGHL1Drosophila melanogaster
E334DVWGGENLEIS3Homo sapiens, Drosophila melanogaster, Mus musculus
E334EVWGGENLEMS1Caenorhabditis elegans
F144SVVITFHNEAR2Homo sapiens, Mus musculus
F144TVIITYHNEAR1Caenorhabditis elegans
F144SVIITFHNEAR1Drosophila melanogaster
F280DWNLVFKWDYM2Homo sapiens, Mus musculus
F280DWTLVFRWEFM1Caenorhabditis elegans
F280DWNLIFKWEYL1Drosophila melanogaster
F361RVGHVFRKQHP2Homo sapiens, Mus musculus
F361RVGHVFRKKHP1Caenorhabditis elegans
F361RVGHVFRKRHP1Drosophila melanogaster
F377GSGTVFARNTR2Homo sapiens, Mus musculus
F377GSGNVFQKNTR1Caenorhabditis elegans
F377GSGNVFARNTR1Drosophila melanogaster
F463DTLGHFADGVV2Homo sapiens, Mus musculus
F463DSMARKESEAP1Caenorhabditis elegans
F463DTMGHLIDGTV1Drosophila melanogaster
G203NDRREGLMRSR2Homo sapiens, Mus musculus
G203NNQREGLIRSR1Caenorhabditis elegans
G203NDKREGLVRSR1Drosophila melanogaster
G265NFQYVGASADL2Homo sapiens, Mus musculus
G265NFNYVGASADL1Caenorhabditis elegans
G265NFQYIGASADL1Drosophila melanogaster
G308TPMIAGGLFVM2Homo sapiens, Mus musculus
G308SPTMAGGLFAI1Caenorhabditis elegans
G308TPMIAGGLFVI1Drosophila melanogaster
G309PMIAGGLFVMD2Homo sapiens, Mus musculus
G309PTMAGGLFAIS1Caenorhabditis elegans
G309PMIAGGLFVID1Drosophila melanogaster
G332MMDVWGGENLE2Homo sapiens, Mus musculus
G332DMEVWGGENLE1Caenorhabditis elegans
G332KMDVWGGENLE1Drosophila melanogaster
G333MDVWGGENLEI3Homo sapiens, Drosophila melanogaster, Mus musculus
G333MEVWGGENLEM1Caenorhabditis elegans
G478CHNAGGNQEWA2Homo sapiens, Mus musculus
G478CHGTGGNQEWV1Caenorhabditis elegans
G478CHNTGGNQEWA1Drosophila melanogaster
H145VVITFHNEARS2Homo sapiens, Mus musculus
H145VIITYHNEARS1Caenorhabditis elegans
H145VIITFHNEARS1Drosophila melanogaster
H226TFLDSHCECNE2Homo sapiens, Mus musculus
H226TFLDSHIECNQ1Caenorhabditis elegans
H226TFLDSHVECNE1Drosophila melanogaster
H359CSRVGHVFRKQ2Homo sapiens, Mus musculus
H359CSRVGHVFRKK1Caenorhabditis elegans
H359CSRVGHVFRKR1Drosophila melanogaster
H365VFRKQHPYTFP2Homo sapiens, Mus musculus
H365VFRKKHPYTFP1Caenorhabditis elegans
H365VFRKRHPYTFP1Drosophila melanogaster
H474GVYECHNAGGN1Homo sapiens
H474GLFGCHGTGGN1Caenorhabditis elegans
H474GIFPCHNTGGN1Drosophila melanogaster
H474GIYECHNAGGN1Mus musculus
I252RVVSPIIDVIN2Homo sapiens, Mus musculus
I252AVVAPIIDVIN1Caenorhabditis elegans
I252RVVCPVIDVIS1Drosophila melanogaster
I253VVSPIIDVINM2Homo sapiens, Mus musculus
I253VVAPIIDVINV1Caenorhabditis elegans
I253VVCPVIDVISM1Drosophila melanogaster
K363GHVFRKQHPYT2Homo sapiens, Mus musculus
K363GHVFRKKHPYT1Caenorhabditis elegans
K363GHVFRKRHPYT1Drosophila melanogaster
L204DRREGLMRSRV2Homo sapiens, Mus musculus
L204NQREGLIRSRV1Caenorhabditis elegans
L204DKREGLVRSRV1Drosophila melanogaster
L270GASADLKGGFD2Homo sapiens, Mus musculus
L270GASADLRGGFD2Caenorhabditis elegans, Drosophila melanogaster
L310MIAGGLFVMDK2Homo sapiens, Mus musculus
L310TMAGGLFAISK1Caenorhabditis elegans
L310MIAGGLFVIDK1Drosophila melanogaster
L460NCLDTLGHFAD2Homo sapiens, Mus musculus
L460LCLDSMARKES1Caenorhabditis elegans
L460ECLDTMGHLID1Drosophila melanogaster
N335VWGGENLEISF3Homo sapiens, Drosophila melanogaster, Mus musculus
N335VWGGENLEMSF1Caenorhabditis elegans
N479HNAGGNQEWAL2Homo sapiens, Mus musculus
N479HGTGGNQEWVF1Caenorhabditis elegans
N479HNTGGNQEWAF1Drosophila melanogaster
P366FRKQHPYTFPG2Homo sapiens, Mus musculus
P366FRKKHPYTFPG1Caenorhabditis elegans
P366FRKRHPYTFPG1Drosophila melanogaster
Q364HVFRKQHPYTF2Homo sapiens, Mus musculus
Q364HVFRKKHPYTF1Caenorhabditis elegans
Q364HVFRKRHPYTF1Drosophila melanogaster
R24Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Mus musculus
R201LRNDRREGLMR2Homo sapiens, Mus musculus
R201LRNNQREGLIR1Caenorhabditis elegans
R201IRNDKREGLVR1Drosophila melanogaster
R208GLMRSRVRGAD2Homo sapiens, Mus musculus
R208GLIRSRVKGAQ1Caenorhabditis elegans
R208GLVRSRVKGAD1Drosophila melanogaster
R362VGHVFRKQHPY2Homo sapiens, Mus musculus
R362VGHVFRKKHPY1Caenorhabditis elegans
R362VGHVFRKRHPY1Drosophila melanogaster
S207EGLMRSRVRGA2Homo sapiens, Mus musculus
S207EGLIRSRVKGA1Caenorhabditis elegans
S207EGLVRSRVKGA1Drosophila melanogaster
S225LTFLDSHCECN2Homo sapiens, Mus musculus
S225LTFLDSHIECN1Caenorhabditis elegans
S225LTFLDSHVECN1Drosophila melanogaster
S267QYVGASADLKG2Homo sapiens, Mus musculus
S267NYVGASADLRG1Caenorhabditis elegans
S267QYIGASADLRG1Drosophila melanogaster
S373TFPGGSGTVFA2Homo sapiens, Mus musculus
S373TFPGGSGNVFQ1Caenorhabditis elegans
S373TFPGGSGNVFA1Drosophila melanogaster
T143TSVVITFHNEA2Homo sapiens, Mus musculus
T143TTVIITYHNEA1Caenorhabditis elegans
T143TSVIITFHNEA1Drosophila melanogaster
V255SPIIDVINMDN2Homo sapiens, Mus musculus
V255APIIDVINVDN1Caenorhabditis elegans
V255CPVIDVISMDN1Drosophila melanogaster
V264DNFQYVGASAD2Homo sapiens, Mus musculus
V264DNFNYVGASAD1Caenorhabditis elegans
V264DNFQYIGASAD1Drosophila melanogaster
V279FDWNLVFKWDY2Homo sapiens, Mus musculus
V279FDWTLVFRWEF1Caenorhabditis elegans
V279FDWNLIFKWEY1Drosophila melanogaster
V330DMMMDVWGGEN2Homo sapiens, Mus musculus
V330DLDMEVWGGEN1Caenorhabditis elegans
V330DMKMDVWGGEN1Drosophila melanogaster
W282NLVFKWDYMTP2Homo sapiens, Mus musculus
W282TLVFRWEFMNE1Caenorhabditis elegans
W282NLIFKWEYLSP1Drosophila melanogaster
W331MMMDVWGGENL2Homo sapiens, Mus musculus
W331LDMEVWGGENL1Caenorhabditis elegans
W331MKMDVWGGENL1Drosophila melanogaster
Y367RKQHPYTFPGG2Homo sapiens, Mus musculus
Y367RKKHPYTFPGG1Caenorhabditis elegans
Y367RKRHPYTFPGG1Drosophila melanogaster
Y471GVVGVYECHNA1Homo sapiens
Y471EAPGLFGCHGT1Caenorhabditis elegans
Y471GTVGIFPCHNT1Drosophila melanogaster
Y471GVVGIYECHNA1Mus musculus


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