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mutLBSgeneDB |
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| Gene summary for NAALAD2 |
 Gene summary |
| Basic gene Info. | Gene symbol | NAALAD2 |
| Gene name | N-acetylated alpha-linked acidic dipeptidase 2 | |
| Synonyms | GCPIII|GPCIII|NAADALASE2|NAALADASE2 | |
| Cytomap | UCSC genome browser: 11q14.3-q21 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001300930.1, NM_005467.3, | |
| Description | N-acetylated alpha-linked acidic dipeptidase IIN-acetylated-alpha-linked acidic dipeptidase 2N-acetylated-alpha-linked acidic dipeptidase IINAALADase IIglutamate carboxypeptidase III | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 611636 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000077616 | ||
| HPRD : 07494 | ||
| Vega : OTTHUMG00000166368 | ||
| Protein | UniProt: Q9Y3Q0 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_NAALAD2 | |
| BioGPS: 10003 | ||
| Pathway | NCI Pathway Interaction Database: NAALAD2 | |
| KEGG: NAALAD2 | ||
| REACTOME: NAALAD2 | ||
| Pathway Commons: NAALAD2 | ||
| Context | iHOP: NAALAD2 | |
| ligand binding site mutation search in PubMed: NAALAD2 | ||
| UCL Cancer Institute: NAALAD2 | ||
| 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 |
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| Ligand binding site mutations for NAALAD2 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | Y262 | G261S | BLCA | 1 | H367 | R368W | COAD | 1 | N247 | L249F | COAD | 1 | D443 | N441K | COAD | 1 | D443 | D443G | COAD | 1 | D443 | S445C | GBM | 1 | E426 | E427D | HNSC | 1 | Y262 | G261C | LUAD | 1 | D443 | S442L | LUAD | 1 | D377 | D377E | LUSC | 1 | H367 | H367N | LUSC | 1 | Y542 | P540Q | LUSC | 1 | N247 | G246R | SKCM | 1 | N247 | G246E | SKCM | 1 | D377 | A375D | UCEC | 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 NAALAD2 |
| 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 | N247 | G246R | 0.092315337 | N247 | G246E | 0.081605288 | Y262 | G261S | -1.0755498 | Y542 | P540Q | -1.0176551 | D377 | A375D | -0.88322876 | N247 | L249F | -0.77090375 | Y262 | G261C | -0.75643248 | D443 | D443G | -0.75403741 | H367 | H367N | -0.67661609 | E426 | E427D | -0.67108616 | D443 | N441K | -0.64856667 | D443 | S445C | -0.42379916 | H367 | R368W | -0.38692618 | D377 | D377E | -0.31336714 | D443 | S442L | -0.23041537 |
| (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 NAALAD2 from PDB |
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| Differential gene expression and gene-gene network for NAALAD2 |
| 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 NAALAD2 |
| 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 NAALAD2 |
| 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 NAALAD2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 3fec | A | D377 | ZN | ZINC(2+) | 3fed | A | D377 | ZN | ZINC(2+) | 3fee | A | D377 | ZN | ZINC(2+) | 3ff3 | A | D377 | ZN | ZINC(2+) | 3fec | A | H367 D377 D443 | ZN | ZINC(2+) | 3fed | A | H367 D377 D443 | ZN | ZINC(2+) | 3fee | A | H367 D377 D443 | ZN | ZINC(2+) | 3ff3 | A | H367 D377 D443 | BIX | (2S)-2-{[(S)-[(3S)-3-AMINO-3-CARBOXYPROPYL](HYDROXY)PHOSPHORYL]METHYL}PENTANEDIOIC ACID | 3fed | A | N247 H367 D377 D443 Y542 | GLU | L-GLUTAMIC ACID | 3fec | A | N247 Y542 | QUS | QUISQUALATE | 3fee | A | N247 Y542 | GLU | L-GLUTAMIC ACID | 3ff3 | A | N247 Y542 | CA | CALCIUM(2+) | 3fec | A | Y262 E426 | CA | CALCIUM(2+) | 3fed | A | Y262 E426 | CA | CALCIUM(2+) | 3fee | A | Y262 E426 | CA | CALCIUM(2+) | 3ff3 | A | Y262 E426 |
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| Conservation information for LBS of NAALAD2 |
| Multiple alignments for Q9Y3Q0 in multiple species |
| LBS | AA sequence | # species | Species | D256 | LNGAGDPLTPG | 2 | Homo sapiens, Mus musculus | D256 | YYYVGDPLTPG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D256 | MHGDGDALSPY | 1 | Caenorhabditis elegans | D377 | VFGAIDPTSGV | 1 | Homo sapiens | D377 | CTGASDSSVGT | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D377 | VYGSIDPNSGT | 1 | Caenorhabditis elegans | D377 | VFGGIDPTTGT | 1 | Mus musculus | D443 | AYINSDSSIEG | 1 | Homo sapiens | D443 | AYINVDVAVSG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D443 | VYINMD-CIQG | 1 | Caenorhabditis elegans | D443 | AYINSDSAIEG | 1 | Mus musculus | E414 | ASWDAEEFGLL | 2 | Homo sapiens, Mus musculus | E414 | ASWDARQFNAI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E414 | NAWDAEEFGLI | 1 | Caenorhabditis elegans | E415 | SWDAEEFGLLG | 2 | Homo sapiens, Mus musculus | E415 | SWDARQFNAIG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E415 | AWDAEEFGLIG | 1 | Caenorhabditis elegans | E423 | LLGSTEWAEEN | 2 | Homo sapiens, Mus musculus | E423 | AIGSTEFLEYW | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E423 | LIGSTEFVEEF | 1 | Caenorhabditis elegans | E426 | STEWAEENVKI | 1 | Homo sapiens | E426 | STEFLEYWKES | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E426 | STEFVEEFVNI | 1 | Caenorhabditis elegans | E426 | STEWAEENAKL | 1 | Mus musculus | F199 | RYGKIFRGNKV | 2 | Homo sapiens, Mus musculus | F199 | RANQSDFALAT | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | F199 | RYGHGFRGDKI | 1 | Caenorhabditis elegans | G417 | DAEEFGLLGST | 2 | Homo sapiens, Mus musculus | G417 | DARQFNAIGST | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G417 | DAEEFGLIGST | 1 | Caenorhabditis elegans | G508 | NKLGSGSDFEA | 2 | Homo sapiens, Mus musculus | G508 | ----YTSDLTS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G508 | RVPGGGSDHAP | 1 | Caenorhabditis elegans | H367 | VILGGHRDSWV | 2 | Homo sapiens, Mus musculus | H367 | LVVGAPRDSWC | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H367 | IMLGNHFDAWV | 1 | Caenorhabditis elegans | H543 | SYPVYHTIYET | 2 | Homo sapiens, Mus musculus | H543 | PMPFLGSCEDT | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H543 | TYPLYHTMYET | 1 | Caenorhabditis elegans | K689 | PSSHNKYAGES | 2 | Homo sapiens, Mus musculus | K689 | PNLRNSHS-QL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K689 | VSDSDSYSSSL | 1 | Caenorhabditis elegans | L418 | AEEFGLLGSTE | 2 | Homo sapiens, Mus musculus | L418 | ARQFNAIGSTE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L418 | AEEFGLIGSTE | 1 | Caenorhabditis elegans | N247 | AAQRGNVLN-L | 2 | Homo sapiens, Mus musculus | N247 | SLYRGSVANHY | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | N247 | GVQRGSL---M | 1 | Caenorhabditis elegans | P263 | LTPGYPAKEYT | 2 | Homo sapiens, Mus musculus | P263 | LTPGWSAHEET | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | P263 | LSPYYPSKKEL | 1 | Caenorhabditis elegans | R200 | YGKIFRGNKVK | 2 | Homo sapiens, Mus musculus | R200 | ANQSDFALATA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R200 | YGHGFRGDKIH | 1 | Caenorhabditis elegans | R524 | GIASGRARYTK | 2 | Homo sapiens, Mus musculus | R524 | GIPVVNLAFER | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R524 | GVPVINFTF-K | 1 | Caenorhabditis elegans | R526 | ASGRARYTKNK | 2 | Homo sapiens, Mus musculus | R526 | PVVNLAFERNE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R526 | PVINFTF-KNY | 1 | Caenorhabditis elegans | S507 | INKLGSGSDFE | 2 | Homo sapiens, Mus musculus | S507 | -----YTSDLT | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S507 | IRVPGGGSDHA | 1 | Caenorhabditis elegans | T259 | AGDPLTPGYPA | 2 | Homo sapiens, Mus musculus | T259 | VGDPLTPGWSA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T259 | DGDALSPYYPS | 1 | Caenorhabditis elegans | Y262 | PLTPGYPAKEY | 2 | Homo sapiens, Mus musculus | Y262 | PLTPGWSAHEE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y262 | ALSPYYPSKKE | 1 | Caenorhabditis elegans | Y542 | SSYPVYHTIYE | 2 | Homo sapiens, Mus musculus | Y542 | TPMPFLGSCED | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y542 | DTYPLYHTMYE | 1 | Caenorhabditis elegans | Y690 | SSHNKYAGESF | 2 | Homo sapiens, Mus musculus | Y690 | NLRNSHS-QLF | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y690 | SDSDSYSSSLM | 1 | Caenorhabditis elegans |
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