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mutLBSgeneDB |
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| Gene summary for NANP |
 Gene summary |
| Basic gene Info. | Gene symbol | NANP |
| Gene name | N-acetylneuraminic acid phosphatase | |
| Synonyms | C20orf147|HDHD4|dJ694B14.3 | |
| Cytomap | UCSC genome browser: 20p11.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_152667.2, | |
| Description | N-acylneuraminate-9-phosphataseNeu5Ac-9-Pasehaloacid dehalogenase-like hydrolase domain containing 4haloacid dehalogenase-like hydrolase domain-containing protein 4 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 610763 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000170191 | ||
| HPRD : 17097 | ||
| Vega : OTTHUMG00000032132 | ||
| Protein | UniProt: Q8TBE9 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_NANP | |
| BioGPS: 140838 | ||
| Pathway | NCI Pathway Interaction Database: NANP | |
| KEGG: NANP | ||
| REACTOME: NANP | ||
| Pathway Commons: NANP | ||
| Context | iHOP: NANP | |
| ligand binding site mutation search in PubMed: NANP | ||
| UCL Cancer Institute: NANP | ||
| 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:0016311 | dephosphorylation | 16237198 | GO:0046380 | N-acetylneuraminate biosynthetic process | 16237198 |
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| Ligand binding site mutations for NANP |
| 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 | N132 | D134H | 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 NANP |
| 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 | N132 | D134H | -1.1846153 |
| (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 NANP from PDB |
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| Differential gene expression and gene-gene network for NANP |
| 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 NANP |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for NANP |
| 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 NANP go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | PO4 | PHOSPHATE ION | 4knv | A | N132 | PO4 | PHOSPHATE ION | 4knv | B | N132 |
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| Conservation information for LBS of NANP |
| Multiple alignments for Q8TBE9 in multiple species |
| LBS | AA sequence | # species | Species | D12 | RAVFFDLDNTL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D14 | VFFDLDNTLID | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D189 | CVMVGDTLETD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D194 | DTLETDIQGGL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K164 | EQKEEKPAPSI | 2 | Mus musculus, Rattus norvegicus | K164 | EQREEKPAPSI | 1 | Homo sapiens | L13 | AVFFDLDNTLI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N132 | LLLLTNGDRQT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N15 | FFDLDNTLIDT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T131 | RLLLLTNGDRQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T190 | VMVGDTLETDI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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