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 CD44
Gene summary
Basic gene Info.Gene symbolCD44
Gene nameCD44 molecule (Indian blood group)
CytomapUCSC genome browser: 11p13
Type of geneprotein-coding
DescriptionCD44 antigenGP90 lymphocyte homing/adhesion receptorHermes antigencell surface glycoprotein CD44chondroitin sulfate proteoglycan 8epicanextracellular matrix receptor IIIhematopoietic cell E- and L-selectin ligandheparan sulfate proteoglycanhoming
Modification date20141222
dbXrefs MIM : 107269
Ensembl : ENSG00000026508
HPRD : 00115
Vega : OTTHUMG00000044388
ProteinUniProt: P16070
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CD44
BioGPS: 960
PathwayNCI Pathway Interaction Database: CD44
Pathway Commons: CD44
ContextiHOP: CD44
ligand binding site mutation search in PubMed: CD44
UCL Cancer Institute: CD44
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0030214hyaluronan catabolic process17170110
GO:0033138positive regulation of peptidyl-serine phosphorylation17045821
GO:0043518negative regulation of DNA damage response, signal transduction by p53 class mediator17045821
GO:0044344cellular response to fibroblast growth factor stimulus19577615
GO:0050731positive regulation of peptidyl-tyrosine phosphorylation17045821
GO:0070374positive regulation of ERK1 and ERK2 cascade17045821
GO:1902166negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator17045821

Ligand binding site mutations for CD44
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 CD44
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 CD44 from PDB

Differential gene expression and gene-gene network for CD44
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 CD44 and the right PPI network was created from samples without mutations in the LBS of CD44. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for CD44
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0027627Neoplasm Metastasis222AlteredExpression, Biomarker
umls:C0023467Leukemia, Myeloid, Acute12Biomarker, GeneticVariation
umls:C0038356Stomach Neoplasms5AlteredExpression, Biomarker
umls:C0030297Pancreatic Neoplasms4Biomarker
umls:C0023487Leukemia, Promyelocytic, Acute3Biomarker, PostTranslationalModification, Therapeutic
umls:C0037274Skin Diseases3Biomarker
umls:C2609414Acute Kidney Injury1Biomarker
umls:C0311375Arsenic Poisoning1Biomarker
umls:C0017661Glomerulonephritis, IGA1Biomarker
umls:C0024668Mammary Neoplasms, Experimental1Biomarker
umls:C0027746Nerve Degeneration1Biomarker
umls:C0031117Peripheral Nervous System Diseases1Biomarker

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

Pharmacological information for CD44
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
Approved|vet_approvedDB08818Hyaluronic acidSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CD44 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (ALA,ALA,ALA,VAL)4pz3BF34

Conservation information for LBS of CD44
Multiple alignments for P16070 in multiple species
LBSAA sequence# speciesSpecies

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