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 GALK2
Gene summary
Basic gene Info.Gene symbolGALK2
Gene namegalactokinase 2
SynonymsGK2
CytomapUCSC genome browser: 15q21.1-q21.2
Type of geneprotein-coding
RefGenesNM_001001556.2,
NM_001289030.1,NM_001289031.1,NM_002044.3,
DescriptionN-acetylgalactosamine kinasegalNAc kinase
Modification date20141207
dbXrefs MIM : 137028
HGNC : HGNC
HPRD : 00657
ProteinUniProt: Q01415
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_GALK2
BioGPS: 2585
PathwayNCI Pathway Interaction Database: GALK2
KEGG: GALK2
REACTOME: GALK2
Pathway Commons: GALK2
ContextiHOP: GALK2
ligand binding site mutation search in PubMed: GALK2
UCL Cancer Institute: GALK2
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


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Ligand binding site mutations for GALK2
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
E49E49KBRCA1
Y110F111LCOAD1
G401T400AGBM1
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 GALK2
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
E49E49K-1.3996374
Y110F111L-1.0972589
G401T400A-0.82859031
(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 GALK2 from PDB

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Differential gene expression and gene-gene network for GALK2
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 GALK2 and the right PPI network was created from samples without mutations in the LBS of GALK2. 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 GALK2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0017661Glomerulonephritis, IGA1Biomarker

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

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Pharmacological information for GALK2
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 GALK2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NG1N-ACETYL-ALPHA-D-GALACTOSAMINE 1-PHOSPHATE(2-)2a2cAE49 G401
A2GALPHA-GALNAC2a2dAE49 G401
ADPADP2a2cAY110
ANPAMP-PNP2a2dAY110


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Conservation information for LBS of GALK2
Multiple alignments for Q01415 in multiple species
LBSAA sequence# speciesSpecies
A402SRLTGAGWGGC5Homo sapiens, Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Rattus norvegicus
A402ARTTGAGWGGS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A402ARLTGAGWGGC1Arabidopsis thaliana
D190EGGGMDQSISF2Homo sapiens, Rattus norvegicus
D190NTGGMDQCASI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D190NNGGMDQAASI1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
D190NNGGMDQAASV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D190NNGGMDQATSV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D190QSGGMDQAISI1Arabidopsis thaliana
D52IGEHIDYCGYS2Homo sapiens, Rattus norvegicus
D52IGEHIDYCDFS2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D52IGEHIDYNYFS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D52IGEHIDYCQFS1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
D52IGEHIDYEGYS1Arabidopsis thaliana
E179ICAKSERYIGT2Homo sapiens, Rattus norvegicus
E179ISVVSEHYVGV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E179TTAVAEHHVGV1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
E179ITVVAEHYVGV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E179ITAVAEHYVGV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E179LTCECERHIGT1Arabidopsis thaliana
E49VNLIGEHIDYC3Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E49VNIIGEHIDYC2Homo sapiens, Rattus norvegicus
E49VNIIGEHIDYN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E49VNLIGEHIDYE1Arabidopsis thaliana
F240TS--HFNIRVM1Homo sapiens
F240TALTNYNLRVV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F240TGPVNYNLRVV1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
F240TAPTNYNLRVV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F240TAPTNYNLRVI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F240TAAKNYNNRVV1Arabidopsis thaliana
F240TS--HFNVRVM1Rattus norvegicus
G136NCLVDGNIPPS2Homo sapiens, Rattus norvegicus
G136KLIFDGNVPTG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G136EIYVKGDIPSG1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
G136QVFCEGDVPTG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G136QIFCQSDIPTG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G136DVLVDGIVPTG1Arabidopsis thaliana
G143IPPSSGLSSSS2Homo sapiens, Rattus norvegicus
G143VPTGSGLSSSA2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Arabidopsis thaliana
G143VPTGGGLSSSA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G143IPSGGGLSSSA1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
G143IPTGGGLSS--1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G186YIGTEGGGMDQ2Homo sapiens, Rattus norvegicus
G186YVGVNNGGMDQ2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G186YVGVNTGGMDQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G186HVGVNNGGMDQ1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
G186HIGTQSGGMDQ1Arabidopsis thaliana
G187VGVNNGGMDQA3Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G187IGTEGGGMDQS2Homo sapiens, Rattus norvegicus
G187VGVNTGGMDQC1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G187IGTQSGGMDQA1Arabidopsis thaliana
G401GSRLTGAGWGG5Homo sapiens, Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Rattus norvegicus
G401GARTTGAGWGG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G401GARLTGAGWGG1Arabidopsis thaliana
H50NIIGEHIDYCG2Homo sapiens, Rattus norvegicus
H50NLIGEHIDYCD2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H50NIIGEHIDYNY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H50NLIGEHIDYCQ1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
H50NLIGEHIDYEG1Arabidopsis thaliana
K234CVEMNKAATS-2Homo sapiens, Rattus norvegicus
K234LVEANKQETAL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K234LVVSNKAETGP1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
K234LVVSNKFETAP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K234LVKSNKFETAP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K234LAESQKAVTAA1Arabidopsis thaliana
L150SSSSALVCCAG2Homo sapiens, Rattus norvegicus
L150SSSAAFCVASI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L150SSSAAFICAVS1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
L150SSSAAFICAVA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L150SS--AFTCAAA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L150SSSAAFVCSAT1Arabidopsis thaliana
M189TEGGGMDQSIS2Homo sapiens, Rattus norvegicus
M189VNNGGMDQAAS2Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M189VNTGGMDQCAS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M189VNNGGMDQATS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M189TQSGGMDQAIS1Arabidopsis thaliana
M232NSCVEMNKAAT2Homo sapiens, Rattus norvegicus
M232NTLVEANKQET1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M232NTLVVSNKAET1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
M232NTLVVSNKFET1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M232NTLVKSNKFET1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M232HSLAESQKAVT1Arabidopsis thaliana
N233SCVEMNKAATS2Homo sapiens, Rattus norvegicus
N233TLVEANKQETA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N233TLVVSNKAETG1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
N233TLVVSNKFETA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N233TLVKSNKFETA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N233SLAESQKAVTA1Arabidopsis thaliana
N83ALQLANTNPLY1Homo sapiens
N83KVELNNTNPEF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N83SITLTNHDSNF1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
N83SITLINADPKF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N83SITLTNADPKF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N83QLRIANVNDKY1Arabidopsis thaliana
N83TLQLANTDPLY1Rattus norvegicus
Q191GGGMDQSISFL2Homo sapiens, Rattus norvegicus
Q191TGGMDQCASIY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q191NGGMDQAASIC1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
Q191NGGMDQAASVC1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q191NGGMDQATSVY1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q191SGGMDQAISIM1Arabidopsis thaliana
R43ARSPGRVNLIG3Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Arabidopsis thaliana
R43VRAPGRVNIIG2Homo sapiens, Rattus norvegicus
R43SRSPGRVNIIG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R43TRSPGRVNLIG1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
S141GNIPPSSGLSS2Homo sapiens, Rattus norvegicus
S141GNVPTGGGLSS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S141GDIPSGGGLSS1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
S141GDVPTGSGLSS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S141SDIPTGGGLSS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S141GIVPTGSGLSS1Arabidopsis thaliana
S142NIPPSSGLSSS2Homo sapiens, Rattus norvegicus
S142NVPTGGGLSSS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S142DIPSGGGLSSS1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
S142DVPTGSGLSSS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S142DIPTGGGLSS-1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S142IVPTGSGLSSS1Arabidopsis thaliana
S145PSSGLSSSSAL2Homo sapiens, Rattus norvegicus
S145TGSGLSSSAAF2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Arabidopsis thaliana
S145TGGGLSSSAAF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S145SGGGLSSSAAF1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
S145TGGGLSS--AF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S146SSGLSSSSALV2Homo sapiens, Rattus norvegicus
S146GGGLSSSAAFC1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S146GGGLSSSAAFI1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
S146GSGLSSSAAFI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S146GGGLSS--AFT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S146GSGLSSSAAFV1Arabidopsis thaliana
S147SGLSSSSALVC2Homo sapiens, Rattus norvegicus
S147GGLSSSAAFCV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S147GGLSSSAAFIC1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
S147SGLSSSAAFIC1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S147GGLSS--AFTC1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S147SGLSSSAAFVC1Arabidopsis thaliana
S148GLSSSSALVCC2Homo sapiens, Rattus norvegicus
S148GLSSSAAFICA2Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S148GLSSSAAFCVA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S148GLSS--AFTCA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S148GLSSSAAFVCS1Arabidopsis thaliana
W107PSVSDWSNYFK2Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
W107KTKPLWHNYFL1Homo sapiens
W107KTHHTWGNYFR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W107PSVSEWSNYFK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
W107LKNHKWGHYFI1Arabidopsis thaliana
W107KTQPLWHNYFL1Rattus norvegicus
Y110SDWSNYFKCGL2Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y110PLWHNYFLCGL1Homo sapiens
Y110HTWGNYFRCSM1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y110SEWSNYFKCGL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y110HKWGHYFICAY1Arabidopsis thaliana
Y110PLWHNYFLCGF1Rattus norvegicus
Y53GEHIDYCGYSV2Homo sapiens, Rattus norvegicus
Y53GEHIDYCDFSV2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y53GEHIDYNYFSV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y53GEHIDYCQFSV1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
Y53GEHIDYEGYSV1Arabidopsis thaliana
Y88NADPKFAQRKF2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y88NTNPLYP----1Homo sapiens
Y88NTNPEFKEEIL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y88NHDSNFAQRKF1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
Y88NVNDKYT--MC1Arabidopsis thaliana
Y88NTDPLYP----1Rattus norvegicus


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