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 TCN2
Gene summary
Basic gene Info.Gene symbolTCN2
Gene nametranscobalamin II
SynonymsD22S676|D22S750|II|TC|TC II|TC-2|TC2|TCII
CytomapUCSC genome browser: 22q12.2
Type of geneprotein-coding
Descriptionmacrocytic anemiatranscobalamin II; macrocytic anemiatranscobalamin-2vitamin B12-binding protein 2
Modification date20141221
dbXrefs MIM : 613441
Ensembl : ENSG00000185339
HPRD : 02037
Vega : OTTHUMG00000151095
ProteinUniProt: P20062
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_TCN2
BioGPS: 6948
PathwayNCI Pathway Interaction Database: TCN2
Pathway Commons: TCN2
ContextiHOP: TCN2
ligand binding site mutation search in PubMed: TCN2
UCL Cancer Institute: TCN2
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 TCN2

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 TCN2
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 TCN2 from PDB

Differential gene expression and gene-gene network for TCN2
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 TCN2 and the right PPI network was created from samples without mutations in the LBS of TCN2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for TCN2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0002888Anemia, Megaloblastic4Biomarker
umls:C0008924Cleft Lip3Biomarker, GeneticVariation
umls:C0004352Autistic Disorder1Biomarker
umls:C0009404Colorectal Neoplasms1Biomarker
umls:C3658338Drug-Related Side Effects and Adverse Reactions1Biomarker
umls:C0033578Prostatic Neoplasms1Biomarker
umls:C0342701Transcobalamin II deficiency1Biomarker, GeneticVariation

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

Pharmacological information for TCN2
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 TCN2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of TCN2
Multiple alignments for P20062 in multiple species
LBSAA sequence# speciesSpecies
D194GHHSVDTAAMA1Homo sapiens
D194DHVSVDTMAMA1Bos taurus
D194GHVSVDTEAMA1Mus musculus
F394AGEREFWQLLR1Homo sapiens
F394AGEREFWQVLR1Bos taurus
F394AGDREYWQLLR1Mus musculus
G103GKPSMGQLALY1Homo sapiens
G103AKPSMGQLALY1Bos taurus
G103PKLSGGSLALY1Mus musculus
G378QASLSGPYLTS2Homo sapiens, Mus musculus
G378QASLSGPFLTS1Bos taurus
G408TPLLQGIADYR1Homo sapiens
G408TPLQQGIADYR1Bos taurus
G408TPLLQGIADYK1Mus musculus
H190-FHQGHHSVDT1Homo sapiens
H190HLLQDHVSVDT1Bos taurus
H190FTYQGHVSVDT1Mus musculus
H191FHQGHHSVDTA1Homo sapiens
H191LLQDHVSVDTM1Bos taurus
H191TYQGHVSVDTE1Mus musculus
L107MGQLALYLLAL2Homo sapiens, Bos taurus
L107GGSLALYLLAL1Mus musculus
L376ETQASLSGPYL1Homo sapiens
L376RTQASLSGPFL1Bos taurus
L376GTQASLSGPYL1Mus musculus
L381LSGPYLTSVMG1Homo sapiens
L381LSGPFLTSVLG1Bos taurus
L381LSGPYLTSVLG1Mus musculus
L397REFWQLLRDPN1Homo sapiens
L397REFWQVLRDPD1Bos taurus
L397REYWQLLRAPD1Mus musculus
L405DPNTPLLQGIA1Homo sapiens
L405DPDTPLQQGIA1Bos taurus
L405APDTPLLQGIA1Mus musculus
L406PNTPLLQGIAD1Homo sapiens
L406PDTPLQQGIAD1Bos taurus
L406PDTPLLQGIAD1Mus musculus
M288FQNPLMISQLL2Bos taurus, Mus musculus
M288FQNALMISQLL1Homo sapiens
N242EGHFGNVYSTP1Homo sapiens
N242EGYFGNVYSTP1Bos taurus
N242EGYFGNIYSTP1Mus musculus
P379ASLSGPYLTSV2Homo sapiens, Mus musculus
P379ASLSGPFLTSV1Bos taurus
Q104KPSMGQLALYL2Homo sapiens, Bos taurus
Q104KLSGGSLALYL1Mus musculus
Q156HTSYYQYGLGI1Homo sapiens
Q156RTSYYQYSLGI1Bos taurus
Q156NTNYYQYGLSI1Mus musculus
Q291ALMISQLLPVL1Homo sapiens
Q291PLMISQLLPVL1Bos taurus
Q291PLMISQLLPIL1Mus musculus
Q396EREFWQLLRDP1Homo sapiens
Q396EREFWQVLRDP1Bos taurus
Q396DREYWQLLRAP1Mus musculus
S153GHPHTSYYQYG1Homo sapiens
S153GHPRTSYYQYS1Bos taurus
S153GHPNTNYYQYG1Mus musculus
S245FGNVYSTPLAL2Homo sapiens, Bos taurus
S245FGNIYSTPLAL1Mus musculus
S375YETQASLSGPY1Homo sapiens
S375FRTQASLSGPF1Bos taurus
S375YGTQASLSGPY1Mus musculus
S377TQASLSGPYLT2Homo sapiens, Mus musculus
S377TQASLSGPFLT1Bos taurus
T152KGHPHTSYYQY1Homo sapiens
T152QGHPRTSYYQY1Bos taurus
T152EGHPNTNYYQY1Mus musculus
W395GEREFWQLLRD1Homo sapiens
W395GEREFWQVLRD1Bos taurus
W395GDREYWQLLRA1Mus musculus
W41QRLLPWMDRLS2Bos taurus, Mus musculus
W41QHLLPWMDRLS1Homo sapiens
Y155PHTSYYQYGLG1Homo sapiens
Y155PRTSYYQYSLG1Bos taurus
Y155PNTNYYQYGLS1Mus musculus
Y244HFGNVYSTPLA1Homo sapiens
Y244YFGNVYSTPLA1Bos taurus
Y244YFGNIYSTPLA1Mus musculus
Y380SLSGPYLTSVM1Homo sapiens
Y380SLSGPFLTSVL1Bos taurus
Y380SLSGPYLTSVL1Mus musculus

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