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mutLBSgeneDB |
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| Gene summary for GMPR2 |
 Gene summary |
| Basic gene Info. | Gene symbol | GMPR2 |
| Gene name | guanosine monophosphate reductase 2 | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 14q12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001002000.2, NM_001002001.2,NM_001002002.2,NM_001283021.1,NM_001283022.1, NM_001283023.1,NM_016576.4,NR_104265.1, | |
| Description | GMP reductase 2guanosine 5'-monophosphate oxidoreductase 2guanosine monophosphate reductase isolog | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 610781 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000100938 | ||
| HPRD : 13590 | ||
| Vega : OTTHUMG00000171912 | ||
| Protein | UniProt: Q9P2T1 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_GMPR2 | |
| BioGPS: 51292 | ||
| Pathway | NCI Pathway Interaction Database: GMPR2 | |
| KEGG: GMPR2 | ||
| REACTOME: GMPR2 | ||
| Pathway Commons: GMPR2 | ||
| Context | iHOP: GMPR2 | |
| ligand binding site mutation search in PubMed: GMPR2 | ||
| UCL Cancer Institute: GMPR2 | ||
| 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:0046037 | GMP metabolic process | 22037469 |
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| Ligand binding site mutations for GMPR2 |
| 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 | A287 | A287V | COAD | 1 | G242 | G242R | OV | 1 | G290 | G290E | 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 GMPR2 |
| 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 | G290 | G290E | -0.97253394 | A287 | A287V | -0.26141915 | G242 | G242R | -0.11750512 |
| (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 GMPR2 from PDB |
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| Differential gene expression and gene-gene network for GMPR2 |
| 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 GMPR2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0001418 | Adenocarcinoma | 1 | Biomarker |
| umls:C0038356 | Stomach 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 GMPR2 |
| 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 GMPR2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | 5GP | GMP RESIDUE | 2a7r | A | G242 A287 G290 | 5GP | GMP RESIDUE | 2a7r | B | G242 G290 | 5GP | GMP RESIDUE | 2a7r | C | G242 G290 | IMP | IMP | 2bzn | A | G242 G290 | IMP | IMP | 2bzn | B | G242 G290 | IMP | IMP | 2bzn | C | G242 G290 | IMP | IMP | 2bzn | D | G242 G290 | IMP | IMP | 2bzn | E | G242 G290 | IMP | IMP | 2bzn | F | G242 G290 | IMP | IMP | 2bzn | G | G242 G290 | IMP | IMP | 2bzn | H | G242 G290 | IMP | IMP | 2c6q | A | G242 G290 | IMP | IMP | 2c6q | B | G242 G290 | IMP | IMP | 2c6q | C | G242 G290 | IMP | IMP | 2c6q | D | G242 G290 | IMP | IMP | 2c6q | E | G242 G290 | IMP | IMP | 2c6q | F | G242 G290 | IMP | IMP | 2c6q | G | G242 G290 | IMP | IMP | 2c6q | H | G242 G290 |
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| Conservation information for LBS of GMPR2 |
| Multiple alignments for Q9P2T1 in multiple species |
| LBS | AA sequence | # species | Species | A131 | ICLDVANGYSE | 3 | Homo sapiens, Caenorhabditis elegans, Mus musculus | A131 | VCLDVANGYSE | 1 | Bos taurus | A287 | VAEYRASEGKT | 3 | Homo sapiens, Caenorhabditis elegans, Bos taurus | A287 | VAEYRASEGKI | 1 | Mus musculus | A53 | VPIIAANMDTV | 1 | Homo sapiens | A53 | VPVVASNMDTV | 1 | Caenorhabditis elegans | A53 | IPIIAANMDTV | 1 | Bos taurus | A53 | IPVIAANMDTV | 1 | Mus musculus | C186 | GPGSVCTTRKK | 4 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus | D129 | KYICLDVANGY | 3 | Homo sapiens, Caenorhabditis elegans, Mus musculus | D129 | KYVCLDVANGY | 1 | Bos taurus | D219 | GHIISDGGCSC | 3 | Homo sapiens, Bos taurus, Mus musculus | D219 | GHVMSDGGCSN | 1 | Caenorhabditis elegans | E289 | EYRASEGKTVE | 2 | Homo sapiens, Bos taurus | E289 | EYRASEGKTVT | 1 | Caenorhabditis elegans | E289 | EYRASEGKIVE | 1 | Mus musculus | G104 | LAASSGTGSSD | 2 | Homo sapiens, Bos taurus | G104 | LAISSGISDND | 1 | Caenorhabditis elegans | G104 | LAASSGSGSAD | 1 | Mus musculus | G179 | DIIKVGIGPGS | 3 | Homo sapiens, Bos taurus, Mus musculus | G179 | DIVKVGIGPGS | 1 | Caenorhabditis elegans | G181 | IKVGIGPGSVC | 3 | Homo sapiens, Bos taurus, Mus musculus | G181 | VKVGIGPGSVC | 1 | Caenorhabditis elegans | G183 | VGIGPGSVCTT | 4 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus | G220 | HIISDGGCSCP | 3 | Homo sapiens, Bos taurus, Mus musculus | G220 | HVMSDGGCSNP | 1 | Caenorhabditis elegans | G221 | IISDGGCSCPG | 3 | Homo sapiens, Bos taurus, Mus musculus | G221 | VMSDGGCSNPG | 1 | Caenorhabditis elegans | G242 | DFVMLGGMLAG | 3 | Homo sapiens, Bos taurus, Mus musculus | G242 | DFVMIGGLFAG | 1 | Caenorhabditis elegans | G243 | FVMLGGMLAGH | 3 | Homo sapiens, Bos taurus, Mus musculus | G243 | FVMIGGLFAGH | 1 | Caenorhabditis elegans | G268 | YKLFYGMSSEM | 3 | Homo sapiens, Bos taurus, Mus musculus | G268 | FKLFYGMSSDT | 1 | Caenorhabditis elegans | G290 | YRASEGKTVEV | 2 | Homo sapiens, Bos taurus | G290 | YRASEGKTVTI | 1 | Caenorhabditis elegans | G290 | YRASEGKIVEV | 1 | Mus musculus | I180 | IIKVGIGPGSV | 3 | Homo sapiens, Bos taurus, Mus musculus | I180 | IVKVGIGPGSV | 1 | Caenorhabditis elegans | K25 | KRSTLKSRSEV | 3 | Homo sapiens, Bos taurus, Mus musculus | K25 | KRSTLKSRADV | 1 | Caenorhabditis elegans | K78 | FTAVHKHYSLV | 1 | Homo sapiens | K78 | FTTIHKHYSVD | 1 | Caenorhabditis elegans | K78 | FTAVHKHYSLE | 1 | Bos taurus | K78 | FTAIHKHYSIH | 1 | Mus musculus | M240 | GADFVMLGGML | 3 | Homo sapiens, Bos taurus, Mus musculus | M240 | GADFVMIGGLF | 1 | Caenorhabditis elegans | M269 | KLFYGMSSEMA | 3 | Homo sapiens, Bos taurus, Mus musculus | M269 | KLFYGMSSDTA | 1 | Caenorhabditis elegans | M275 | SSEMAMKKYAG | 2 | Homo sapiens, Bos taurus | M275 | SSDTAMKKHHG | 1 | Caenorhabditis elegans | M275 | SSEMAMKKYSG | 1 | Mus musculus | M55 | IIAANMDTVGT | 2 | Homo sapiens, Bos taurus | M55 | VVASNMDTVGT | 1 | Caenorhabditis elegans | M55 | VIAANMDTVGT | 1 | Mus musculus | N132 | CLDVANGYSEH | 3 | Homo sapiens, Bos taurus, Mus musculus | N132 | CLDVANGYSES | 1 | Caenorhabditis elegans | N158 | TIMAGNVVTGE | 4 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus | R27 | STLKSRSEVDL | 2 | Homo sapiens, Bos taurus | R27 | STLKSRADVEL | 1 | Caenorhabditis elegans | R27 | STLKSRSEVEL | 1 | Mus musculus | R286 | GVAEYRASEGK | 3 | Homo sapiens, Bos taurus, Mus musculus | R286 | SVAEYRASEGK | 1 | Caenorhabditis elegans | S184 | GIGPGSVCTTR | 4 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus | S26 | RSTLKSRSEVD | 2 | Homo sapiens, Bos taurus | S26 | RSTLKSRADVE | 1 | Caenorhabditis elegans | S26 | RSTLKSRSEVE | 1 | Mus musculus | S270 | LFYGMSSEMAM | 3 | Homo sapiens, Bos taurus, Mus musculus | S270 | LFYGMSSDTAM | 1 | Caenorhabditis elegans | S288 | AEYRASEGKTV | 3 | Homo sapiens, Caenorhabditis elegans, Bos taurus | S288 | AEYRASEGKIV | 1 | Mus musculus | S314 | LGGIRSTCTYV | 2 | Homo sapiens, Mus musculus | S314 | LGGIRSACTYT | 1 | Caenorhabditis elegans | S314 | IGGIRSTCTYV | 1 | Bos taurus | T105 | AASSGTGSSDF | 2 | Homo sapiens, Bos taurus | T105 | AISSGISDNDW | 1 | Caenorhabditis elegans | T105 | AASSGSGSADF | 1 | Mus musculus | T188 | GSVCTTRKKTG | 3 | Homo sapiens, Bos taurus, Mus musculus | T188 | GSVCTTRKKAG | 1 | Caenorhabditis elegans | T317 | IRSTCTYVGAA | 3 | Homo sapiens, Bos taurus, Mus musculus | T317 | IRSACTYTGAK | 1 | Caenorhabditis elegans | V130 | YICLDVANGYS | 3 | Homo sapiens, Caenorhabditis elegans, Mus musculus | V130 | YVCLDVANGYS | 1 | Bos taurus | Y285 | GGVAEYRASEG | 3 | Homo sapiens, Bos taurus, Mus musculus | Y285 | GSVAEYRASEG | 1 | Caenorhabditis elegans | Y318 | RSTCTYVGAAK | 3 | Homo sapiens, Bos taurus, Mus musculus | Y318 | RSACTYTGAKH | 1 | Caenorhabditis elegans |
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