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mutLBSgeneDB |
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| Gene summary for ANXA3 |
 Gene summary |
| Basic gene Info. | Gene symbol | ANXA3 |
| Gene name | annexin A3 | |
| Synonyms | ANX3 | |
| Cytomap | UCSC genome browser: 4q21.21 | |
| Type of gene | protein-coding | |
| RefGenes | NM_005139.2, | |
| Description | 35-alpha calcimedinAnnexin III (lipocortin III)PAP-IIIannexin III (lipocortin III, 1,2-cyclic-inositol-phosphate phosphodiesterase, placental anticoagulant protein III, calcimedin 35-alpha)annexin-3calcimedin 35-alphainositol 1,2-cyclic phosphate 2- | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 106490 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000138772 | ||
| HPRD : 00111 | ||
| Vega : OTTHUMG00000130198 | ||
| Protein | UniProt: P12429 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ANXA3 | |
| BioGPS: 306 | ||
| Pathway | NCI Pathway Interaction Database: ANXA3 | |
| KEGG: ANXA3 | ||
| REACTOME: ANXA3 | ||
| Pathway Commons: ANXA3 | ||
| Context | iHOP: ANXA3 | |
| ligand binding site mutation search in PubMed: ANXA3 | ||
| UCL Cancer Institute: ANXA3 | ||
| 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:0006909 | phagocytosis | 9497492 | GO:0010595 | positive regulation of endothelial cell migration | 16236264 | GO:0042742 | defense response to bacterium | 9497492 | GO:0043312 | neutrophil degranulation | 9550422 | GO:0045766 | positive regulation of angiogenesis | 16236264 | GO:0051091 | positive regulation of sequence-specific DNA binding transcription factor activity | 16236264 |
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| Ligand binding site mutations for ANXA3 |
| 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 | E237 | H235Y | COAD | 1 | E147 | S149C | LUAD | 1 | D75 | G74D | SKCM | 1 | T108 | E110K | SKCM | 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 ANXA3 |
| 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 | E237 | H235Y | -0.99577416 | T108 | E110K | -0.93720374 | D75 | G74D | -0.49987539 | E147 | S149C | -0.042772574 |
| (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 ANXA3 from PDB |
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| Differential gene expression and gene-gene network for ANXA3 |
| 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 ANXA3 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0003873 | Arthritis, Rheumatoid | 2 | Biomarker, GeneticVariation |
| umls:C0024141 | Lupus Erythematosus, Systemic | 1 | Biomarker |
| umls:C0919267 | Ovarian Neoplasms | 1 | Biomarker |
| umls:C0033578 | Prostatic 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 ANXA3 |
| 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 |
| Experimental | DB03994 | Ethanolamine | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ANXA3 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of ANXA3 |
| Multiple alignments for P12429 in multiple species |
| LBS | AA sequence | # species | Species | D75 | DDLKGDLSGHF | 3 | Homo sapiens, Bos taurus, Mus musculus | D75 | ADLKGDLSGHF | 1 | Rattus norvegicus | E147 | DDISSETSGDF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E147 | DEISSETSGDF | 1 | Bos taurus | E194 | KWGTDEDKFTE | 2 | Mus musculus, Rattus norvegicus | E194 | RWGTDEDKFTE | 1 | Homo sapiens | E194 | RWGTDEDAFTN | 1 | Bos taurus | E231 | DSIKGELSGHF | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | E237 | LSGHFEDLLLA | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | G105 | KKSMKGAGTNE | 1 | Homo sapiens | G105 | KKSMKGMGTNE | 1 | Bos taurus | G105 | KKSMKGTGTDE | 1 | Mus musculus | G105 | KKSMRGMGTDE | 1 | Rattus norvegicus | G107 | SMKGAGTNEDA | 1 | Homo sapiens | G107 | SMKGMGTNEDA | 1 | Bos taurus | G107 | SMKGTGTDEDA | 1 | Mus musculus | G107 | SMRGMGTDEDT | 1 | Rattus norvegicus | G186 | ILYKAGENRWG | 1 | Homo sapiens | G186 | ILYNAGEKRWG | 1 | Bos taurus | G186 | ILYNAGENKWG | 1 | Mus musculus | G186 | TLYDAGEKKWG | 1 | Rattus norvegicus | G191 | GENRWGTDEDK | 1 | Homo sapiens | G191 | GEKRWGTDEDA | 1 | Bos taurus | G191 | GENKWGTDEDK | 1 | Mus musculus | G191 | GEKKWGTDEDK | 1 | Rattus norvegicus | G33 | QKAIRGIGTDE | 1 | Homo sapiens | G33 | RKAIRGIGTDE | 1 | Bos taurus | G33 | RKAIRGLGTDE | 1 | Mus musculus | G33 | RKAIKGIGTDE | 1 | Rattus norvegicus | G35 | AIRGIGTDEKM | 1 | Homo sapiens | G35 | AIRGIGTDEKT | 1 | Bos taurus | G35 | AIRGLGTDEKT | 1 | Mus musculus | G35 | AIKGIGTDEKT | 1 | Rattus norvegicus | I31 | AIQKAIRGIGT | 1 | Homo sapiens | I31 | AIRKAIRGIGT | 1 | Bos taurus | I31 | AIRKAIRGLGT | 1 | Mus musculus | I31 | AIRKAIKGIGT | 1 | Rattus norvegicus | I34 | KAIRGIGTDEK | 2 | Homo sapiens, Bos taurus | I34 | KAIRGLGTDEK | 1 | Mus musculus | I34 | KAIKGIGTDEK | 1 | Rattus norvegicus | K104 | LKKSMKGAGTN | 1 | Homo sapiens | K104 | LKKSMKGMGTN | 1 | Bos taurus | K104 | LKKSMKGTGTD | 1 | Mus musculus | K104 | LKKSMRGMGTD | 1 | Rattus norvegicus | K229 | IEDSIKGELSG | 3 | Bos taurus, Mus musculus, Rattus norvegicus | K229 | IVDSIKGELSG | 1 | Homo sapiens | L76 | DLKGDLSGHFE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L76 | DLKGDLSGHFK | 1 | Bos taurus | M103 | QLKKSMKGAGT | 1 | Homo sapiens | M103 | QLKKSMKGMGT | 1 | Bos taurus | M103 | QLKKSMKGTGT | 1 | Mus musculus | M103 | QLKKSMRGMGT | 1 | Rattus norvegicus | R189 | KAGENRWGTDE | 1 | Homo sapiens | R189 | NAGEKRWGTDE | 1 | Bos taurus | R189 | NAGENKWGTDE | 1 | Mus musculus | R189 | DAGEKKWGTDE | 1 | Rattus norvegicus | S77 | LKGDLSGHFEH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S77 | LKGDLSGHFKH | 1 | Bos taurus | T108 | MKGAGTNEDAL | 1 | Homo sapiens | T108 | MKGMGTNEDAL | 1 | Bos taurus | T108 | MKGTGTDEDAL | 1 | Mus musculus | T108 | MRGMGTDEDTL | 1 | Rattus norvegicus | T192 | ENRWGTDEDKF | 1 | Homo sapiens | T192 | EKRWGTDEDAF | 1 | Bos taurus | T192 | ENKWGTDEDKF | 1 | Mus musculus | T192 | EKKWGTDEDKF | 1 | Rattus norvegicus | T36 | IRGIGTDEKML | 1 | Homo sapiens | T36 | IRGIGTDEKTL | 1 | Bos taurus | T36 | IRGLGTDEKTL | 1 | Mus musculus | T36 | IKGIGTDEKTL | 1 | Rattus norvegicus | W190 | AGENRWGTDED | 1 | Homo sapiens | W190 | AGEKRWGTDED | 1 | Bos taurus | W190 | AGENKWGTDED | 1 | Mus musculus | W190 | AGEKKWGTDED | 1 | Rattus norvegicus |
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