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mutLBSgeneDB |
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| Gene summary for CD44 |
 Gene summary |
| Basic gene Info. | Gene symbol | CD44 |
| Gene name | CD44 molecule (Indian blood group) | |
| Synonyms | CDW44|CSPG8|ECMR-III|HCELL|HUTCH-I|IN|LHR|MC56|MDU2|MDU3|MIC4|Pgp1 | |
| Cytomap | UCSC genome browser: 11p13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000610.3, NM_001001389.1,NM_001001390.1,NM_001001391.1,NM_001001392.1, NM_001202555.1,NM_001202556.1,NM_001202557.1, | |
| Description | CD44 antigenGP90 lymphocyte homing/adhesion receptorHermes antigencell surface glycoprotein CD44chondroitin sulfate proteoglycan 8epicanextracellular matrix receptor IIIhematopoietic cell E- and L-selectin ligandheparan sulfate proteoglycanhoming | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 107269 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000026508 | ||
| HPRD : 00115 | ||
| Vega : OTTHUMG00000044388 | ||
| Protein | UniProt: P16070 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CD44 | |
| BioGPS: 960 | ||
| Pathway | NCI Pathway Interaction Database: CD44 | |
| KEGG: CD44 | ||
| REACTOME: CD44 | ||
| Pathway Commons: CD44 | ||
| Context | iHOP: CD44 | |
| ligand binding site mutation search in PubMed: CD44 | ||
| UCL Cancer Institute: CD44 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0030214 | hyaluronan catabolic process | 17170110 | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 17045821 | GO:0043518 | negative regulation of DNA damage response, signal transduction by p53 class mediator | 17045821 | GO:0044344 | cellular response to fibroblast growth factor stimulus | 19577615 | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 17045821 | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 17045821 | GO:1902166 | negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | 17045821 |
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| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | F34 | V36M | COAD | 1 | F34 | V36M | STAD | 1 |
| 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 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 |
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| 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. |
| LBS | AAchange of nsSNV | Relative stability change | F34 | V36M | -0.68992015 |
| (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 |
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| 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) |
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| Phenotype information for CD44 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0027627 | Neoplasm Metastasis | 222 | AlteredExpression, Biomarker |
| umls:C0023467 | Leukemia, Myeloid, Acute | 12 | Biomarker, GeneticVariation |
| umls:C0038356 | Stomach Neoplasms | 5 | AlteredExpression, Biomarker |
| umls:C0030297 | Pancreatic Neoplasms | 4 | Biomarker |
| umls:C0023487 | Leukemia, Promyelocytic, Acute | 3 | Biomarker, PostTranslationalModification, Therapeutic |
| umls:C0037274 | Skin Diseases | 3 | Biomarker |
| umls:C2609414 | Acute Kidney Injury | 1 | Biomarker |
| umls:C0311375 | Arsenic Poisoning | 1 | Biomarker |
| umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
| umls:C0024668 | Mammary Neoplasms, Experimental | 1 | Biomarker |
| umls:C0027746 | Nerve Degeneration | 1 | Biomarker |
| umls:C0031117 | Peripheral Nervous System Diseases | 1 | Biomarker |
| umls:C0042900 | Vitiligo | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| 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. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved|vet_approved | DB08818 | Hyaluronic acid | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CD44 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (ALA,ALA,ALA,VAL) | 4pz3 | B | F34 |
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| Conservation information for LBS of CD44 |
| Multiple alignments for P16070 in multiple species |
| LBS | AA sequence | # species | Species |
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