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 BCAT2
Gene summary
Basic gene Info.Gene symbolBCAT2
Gene namebranched chain amino-acid transaminase 2, mitochondrial
CytomapUCSC genome browser: 19q13
Type of geneprotein-coding
Descriptionbranched chain aminotransferase 2, mitochondrialbranched-chain-amino-acid aminotransferase, mitochondrialplacental protein 18
Modification date20141207
dbXrefs MIM : 113530
Ensembl : ENSG00000105552
HPRD : 00217
Vega : OTTHUMG00000183327
ProteinUniProt: O15382
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_BCAT2
BioGPS: 587
PathwayNCI Pathway Interaction Database: BCAT2
Pathway Commons: BCAT2
ContextiHOP: BCAT2
ligand binding site mutation search in PubMed: BCAT2
UCL Cancer Institute: BCAT2
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

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

Ligand binding site mutations for BCAT2
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
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 BCAT2
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 BCAT2 from PDB

Differential gene expression and gene-gene network for BCAT2
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 BCAT2 and the right PPI network was created from samples without mutations in the LBS of BCAT2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for BCAT2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0024776Maple Syrup Urine Disease1Biomarker
umls:C0032927Precancerous Conditions1Biomarker

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

Pharmacological information for BCAT2
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
NutraceuticalDB00114Pyridoxal PhosphateSmall molecule
NutraceuticalDB00142L-Glutamic AcidSmall molecule
Approved|nutraceuticalDB00149L-LeucineSmall molecule
Approved|nutraceuticalDB00167L-IsoleucineSmall molecule
ExperimentalDB02142Pyridoxamine-5'-PhosphateSmall molecule
ExperimentalDB02635N-[O-Phosphono-Pyridoxyl]-IsoleucineSmall molecule
ExperimentalDB04074Alpha-ketoisovalerateSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of BCAT2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of BCAT2
Multiple alignments for O15382 in multiple species
LBSAA sequence# speciesSpecies
A341FGSGTACQVCP4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
A341FCTGTAVVVAP1Arabidopsis thaliana
A341FGSGTAAVVSP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A341FGAGTAALVSP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C342GSGTACQVCPV4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
C342CTGTAVVVAPV1Arabidopsis thaliana
C342GSGTAAVVSPI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C342GAGTAALVSPV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C345TACQVCPVHQI3Mus musculus, Rattus norvegicus, Bos taurus
C345TACQVCPVHRI1Homo sapiens
C345TAVVVAPVGTI1Arabidopsis thaliana
C345TAAVVSPIKEI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C345TAALVSPVKAI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E264DHQLTEVGTMN3Homo sapiens, Mus musculus, Rattus norvegicus
E264KKYLEEASSCN1Arabidopsis thaliana
E264DHELTEVGTMN1Bos taurus
E264EKNITEVGTMN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E264EDYITEVGTMN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F102YSLQLFEGMKA2Homo sapiens, Bos taurus
F102YSLQLFEGLKA2Mus musculus, Rattus norvegicus
F102YGQAIYEGTKA1Arabidopsis thaliana
F102YAFELFEGLKA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F102YGFECFEGMKA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F57-QPLLFGKTFT2Rattus norvegicus, Bos taurus
F57-EPLVFGKTFT1Homo sapiens
F57WDNLGFGLNPA1Arabidopsis thaliana
F57-QALLFGKTFT1Mus musculus
F57-EELVFGQTFT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F57WKSLKFGENFT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G104LQLFEGMKAFK2Homo sapiens, Bos taurus
G104LQLFEGLKAYK2Mus musculus, Rattus norvegicus
G104QAIYEGTKAYR1Arabidopsis thaliana
G104FELFEGLKAYR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G104FECFEGMKAFR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G181NEPSLGVGMVT2Mus musculus, Rattus norvegicus
G181NEPSLGVSQPT1Homo sapiens
G181SGPILGLGPAP1Arabidopsis thaliana
G181NEPSLGVGHPT1Bos taurus
G181TSKGLGVGTPS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G181TDEALGVHHCD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G266QLTEVGTMNIF3Homo sapiens, Mus musculus, Rattus norvegicus
G266YLEEASSCNVF1Arabidopsis thaliana
G266ELTEVGTMNIF1Bos taurus
G266NITEVGTMNVF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G266YITEVGTMNCF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G295GVILPGVVRQS2Homo sapiens, Mus musculus
G295GTILEGITRKS1Arabidopsis thaliana
G295GIILPGVVRQS1Rattus norvegicus
G295GIILPGIVRQS1Bos taurus
G295GTILEGVTRDS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G295GMILPGVTRDS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G337VREVFGSGTAC4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
G337-DEVFCTGTAV1Arabidopsis thaliana
G337LLEAFGSGTAA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G337LLEVFGAGTAA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G339EVFGSGTACQV4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
G339EVFCTGTAVVV1Arabidopsis thaliana
G339EAFGSGTAAVV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G339EVFGAGTAALV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K229GVGNYKLGGNY2Homo sapiens, Bos taurus
K229GVGDCKLGGNY2Mus musculus, Rattus norvegicus
K229GAGGVKSITNY1Arabidopsis thaliana
K229GVGDKKLGANY1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K229GTGHYKLGGNY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L180GNEPSLGVGMV2Mus musculus, Rattus norvegicus
L180GNEPSLGVSQP1Homo sapiens
L180GSGPILGLGPA1Arabidopsis thaliana
L180GNEPSLGVGHP1Bos taurus
L180GTSKGLGVGTP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L180GTDEALGVHHC1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L293LNGVILPGVVR2Homo sapiens, Mus musculus
L293TNGTILEGITR1Arabidopsis thaliana
L293LDGIILPGVVR1Rattus norvegicus
L293LDGIILPGIVR1Bos taurus
L293LDGTILEGVTR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L293LDGMILPGVTR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M268TEVGTMNIFVY3Homo sapiens, Mus musculus, Rattus norvegicus
M268EEASSCNVFVV1Arabidopsis thaliana
M268TEVGTMNIFVF1Bos taurus
M268TEVGTMNVFFV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M268TEVGTMNCFTV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N269EVGTMNIFVYW3Homo sapiens, Mus musculus, Rattus norvegicus
N269EASSCNVFVV-1Arabidopsis thaliana
N269EVGTMNIFVFW1Bos taurus
N269EVGTMNVFFVF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N269EVGTMNCFTVW1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q251KRGCEQVLWLY2Homo sapiens, Mus musculus
Q251KKGCEQVLWLY2Rattus norvegicus, Bos taurus
Q251SRGFSDVLYLD1Arabidopsis thaliana
Q251KRGYQQNLWLF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q251KKGYAQILWLY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R126WLNMDRMLRSA3Homo sapiens, Mus musculus, Rattus norvegicus
R126DHNAIRMKLGA1Arabidopsis thaliana
R126WLNMERMLRSA1Bos taurus
R126DKNMARMNKSA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R126IKNAERMLSTG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R170TSLYVRPVLIG4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
R170GTLYIRPLLMG1Arabidopsis thaliana
R170YSLYIRPTMIG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R170YSLYIRPTFIG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R219DPSFVRAWIGG2Mus musculus, Rattus norvegicus
R219DPAFIRAWVGG1Homo sapiens
R219EEEYVRAAPGG1Arabidopsis thaliana
R219DPSFIRAWVGG1Bos taurus
R219TDYATRAWPGG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R219SEESVRAWPGG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T267LTEVGTMNIFV4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
T267LEEASSCNVFV1Arabidopsis thaliana
T267ITEVGTMNVFF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T267ITEVGTMNCFT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T340VFGSGTACQVC4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
T340VFCTGTAVVVA1Arabidopsis thaliana
T340AFGSGTAAVVS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T340VFGAGTAALVS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V182EPSLGVGMVTQ2Mus musculus, Rattus norvegicus
V182EPSLGVSQPTR1Homo sapiens
V182GPILGLGPAPE1Arabidopsis thaliana
V182EPSLGVGHPTR1Bos taurus
V182SKGLGVGTPSE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V182DEALGVHHCDN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V209DSMTPVSLLAD2Mus musculus, Rattus norvegicus
V209GSVTPVSLLAD1Homo sapiens
V209G-MAALNLYVE1Arabidopsis thaliana
V209DALKPVSLLAD1Bos taurus
V209G-FKAVRLEAT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V209G-FKAVKLCCS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V265HQLTEVGTMNI3Homo sapiens, Mus musculus, Rattus norvegicus
V265KYLEEASSCNV1Arabidopsis thaliana
V265HELTEVGTMNI1Bos taurus
V265KNITEVGTMNV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V265DYITEVGTMNC1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V296VILPGVVRQSL2Homo sapiens, Mus musculus
V296TILEGITRKSV1Arabidopsis thaliana
V296IILPGVVRQSL1Rattus norvegicus
V296IILPGIVRQSL1Bos taurus
V296TILEGVTRDSV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V296MILPGVTRDSI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V297ILPGVVRQSLL3Homo sapiens, Mus musculus, Rattus norvegicus
V297ILEGITRKSVM1Arabidopsis thaliana
V297ILPGIVRQSLL1Bos taurus
V297ILEGVTRDSVL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V297ILPGVTRDSIL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V347CQVCPVHQILY3Mus musculus, Rattus norvegicus, Bos taurus
V347CQVCPVHRILY1Homo sapiens
V347VVVAPVGTITY1Arabidopsis thaliana
V347AVVSPIKEIGW1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V347ALVSPVKAINY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y168NGTSLYVRPVL2Mus musculus, Rattus norvegicus
Y168AGTSLYVRPVL1Homo sapiens
Y168GKGTLYIRPLL1Arabidopsis thaliana
Y168MGTSLYVRPVL1Bos taurus
Y168NGYSLYIRPTM1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y168RGYSLYIRPTF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y200CPVGSYFPGDS2Mus musculus, Rattus norvegicus
Y200CPVGAYFPGGS1Homo sapiens
Y200SPVGNYFKEG-1Arabidopsis thaliana
Y200SPVGAYFPGDA1Bos taurus
Y200SPVGPYYKTG-1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y200SPVGPYYSSG-1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y234KLGGNYGPTVL2Homo sapiens, Bos taurus
Y234KLGGNYGPTVA2Mus musculus, Rattus norvegicus
Y234KSITNYAPVLK1Arabidopsis thaliana
Y234KLGANYAPCIL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y234KLGGNYAPSVL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y97CSGLHYSLQLF2Mus musculus, Rattus norvegicus
Y97SSSLHYSLQLF1Homo sapiens
Y97AGVLNYGQAIY1Arabidopsis thaliana
Y97ACVFHYAFELF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y97SSVFHYGFECF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)

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