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mutLBSgeneDB |
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| Gene summary for CRYAB |
 Gene summary |
| Basic gene Info. | Gene symbol | CRYAB |
| Gene name | crystallin, alpha B | |
| Synonyms | CMD1II|CRYA2|CTPP2|CTRCT16|HEL-S-101|HSPB5|MFM2 | |
| Cytomap | UCSC genome browser: 11q22.3-q23.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001289807.1, NM_001289808.1,NM_001885.2, | |
| Description | alpha-crystallin B chainepididymis secretory protein Li 101heat shock protein beta-5heat-shock 20 kD like-proteinrenal carcinoma antigen NY-REN-27rosenthal fiber component | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 123590 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000109846 | ||
| HPRD : 00428 | ||
| Vega : OTTHUMG00000166885 | ||
| Protein | UniProt: P02511 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CRYAB | |
| BioGPS: 1410 | ||
| Pathway | NCI Pathway Interaction Database: CRYAB | |
| KEGG: CRYAB | ||
| REACTOME: CRYAB | ||
| Pathway Commons: CRYAB | ||
| Context | iHOP: CRYAB | |
| ligand binding site mutation search in PubMed: CRYAB | ||
| UCL Cancer Institute: CRYAB | ||
| 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:0032387 | negative regulation of intracellular transport | 14752512 | GO:0043066 | negative regulation of apoptotic process | 14752512 | GO:0051260 | protein homooligomerization | 16303126 |
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| Ligand binding site mutations for CRYAB |
| 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 | S138 | S138L | LUAD | 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 CRYAB |
| 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 | S138 | S138L | -0.31259787 |
| (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 CRYAB from PDB |
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| Differential gene expression and gene-gene network for CRYAB |
| 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 CRYAB |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0086543 | Cataract | 16 | Biomarker, GeneticVariation |
| umls:C0524851 | Neurodegenerative Diseases | 4 | Biomarker, GeneticVariation |
| umls:C0007137 | Carcinoma, Squamous Cell | 2 | Biomarker |
| umls:C0007134 | Carcinoma, Renal Cell | 1 | Biomarker |
| umls:C0009375 | Colonic Neoplasms | 1 | Biomarker |
| umls:C0014859 | Esophageal Neoplasms | 1 | Biomarker |
| umls:C0026640 | Mouth Neoplasms | 1 | Biomarker |
| umls:C0033578 | Prostatic Neoplasms | 1 | Biomarker |
| umls:C0040411 | Tongue Neoplasms | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CRYAB |
| 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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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CRYAB go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (GLY,GLU,ARG,THR,ILE,PRO,ILE,THR,ARG,GLU) | 4m5s | A | S138 | III | Peptide ligand (GLU,ARG,THR,ILE,PRO,ILE,THR,ARG,GLU) | 4m5t | A | S138 |
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| Conservation information for LBS of CRYAB |
| Multiple alignments for P02511 in multiple species |
| LBS | AA sequence | # species | Species | I133 | VDPLTITSSLS | 4 | Homo sapiens, Gallus gallus, Rattus norvegicus, Mus musculus | I133 | VNPDTVTSSLS | 1 | Drosophila melanogaster | I133 | VDPLAITSSLS | 1 | Bos taurus | K90 | SPEELKVKVLG | 5 | Homo sapiens, Gallus gallus, Rattus norvegicus, Mus musculus, Bos taurus | K90 | SPSEITVKVAD | 1 | Drosophila melanogaster | K92 | EELKVKVLGDV | 4 | Homo sapiens, Rattus norvegicus, Mus musculus, Bos taurus | K92 | SEITVKVADKF | 1 | Drosophila melanogaster | K92 | EELKVKVLGDM | 1 | Gallus gallus | L131 | ADVDPLTITSS | 4 | Homo sapiens, Gallus gallus, Rattus norvegicus, Mus musculus | L131 | SDVNPDTVTSS | 1 | Drosophila melanogaster | L131 | ADVDPLAITSS | 1 | Bos taurus | L137 | TITSSLSSDGV | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | L137 | TVTSSLSSDGL | 1 | Drosophila melanogaster | L137 | TITSSLSLDGV | 1 | Gallus gallus | L137 | AITSSLSSDGV | 1 | Bos taurus | L143 | SSDGVLTVNGP | 4 | Homo sapiens, Rattus norvegicus, Mus musculus, Bos taurus | L143 | SSDGLLTIKAP | 1 | Drosophila melanogaster | L143 | SLDGVLTVSAP | 1 | Gallus gallus | L89 | FSPEELKVKVL | 5 | Homo sapiens, Gallus gallus, Rattus norvegicus, Mus musculus, Bos taurus | L89 | FSPSEITVKVA | 1 | Drosophila melanogaster | L94 | LKVKVLGDVIE | 4 | Homo sapiens, Rattus norvegicus, Mus musculus, Bos taurus | L94 | ITVKVADKFVI | 1 | Drosophila melanogaster | L94 | LKVKVLGDMIE | 1 | Gallus gallus | P130 | PADVDPLTITS | 4 | Homo sapiens, Gallus gallus, Rattus norvegicus, Mus musculus | P130 | PSDVNPDTVTS | 1 | Drosophila melanogaster | P130 | PADVDPLAITS | 1 | Bos taurus | P86 | VKHFSPEELKV | 5 | Homo sapiens, Gallus gallus, Rattus norvegicus, Mus musculus, Bos taurus | P86 | VQQFSPSEITV | 1 | Drosophila melanogaster | S135 | PLTITSSLSSD | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | S135 | PDTVTSSLSSD | 1 | Drosophila melanogaster | S135 | PLTITSSLSLD | 1 | Gallus gallus | S135 | PLAITSSLSSD | 1 | Bos taurus | S136 | LTITSSLSSDG | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | S136 | DTVTSSLSSDG | 1 | Drosophila melanogaster | S136 | LTITSSLSLDG | 1 | Gallus gallus | S136 | LAITSSLSSDG | 1 | Bos taurus | S138 | ITSSLSSDGVL | 4 | Homo sapiens, Rattus norvegicus, Mus musculus, Bos taurus | S138 | VTSSLSSDGLL | 1 | Drosophila melanogaster | S138 | ITSSLSLDGVL | 1 | Gallus gallus | T134 | DPLTITSSLSS | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | T134 | NPDTVTSSLSS | 1 | Drosophila melanogaster | T134 | DPLTITSSLSL | 1 | Gallus gallus | T134 | DPLAITSSLSS | 1 | Bos taurus | V91 | PEELKVKVLGD | 5 | Homo sapiens, Gallus gallus, Rattus norvegicus, Mus musculus, Bos taurus | V91 | PSEITVKVADK | 1 | Drosophila melanogaster | V93 | ELKVKVLGDVI | 4 | Homo sapiens, Rattus norvegicus, Mus musculus, Bos taurus | V93 | EITVKVADKFV | 1 | Drosophila melanogaster | V93 | ELKVKVLGDMI | 1 | Gallus gallus |
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