mutLBSgeneDB |
Gene summary for GALNS |
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Basic gene Info. | Gene symbol | GALNS |
Gene name | galactosamine (N-acetyl)-6-sulfatase | |
Synonyms | GALNAC6S|GAS|GalN6S|MPS4A | |
Cytomap | UCSC genome browser: 16q24.3 | |
Type of gene | protein-coding | |
RefGenes | NM_000512.4, | |
Description | N-acetylgalactosamine-6-sulfataseN-acetylgalactosamine-6-sulfate sulfatasechondroitinasechondroitinsulfatasegalNAc6S sulfatasegalactosamine (N-acetyl)-6-sulfate sulfatasegalactose-6-sulfate sulfatase | |
Modification date | 20141219 | |
dbXrefs | MIM : 612222 | |
HGNC : HGNC | ||
Ensembl : ENSG00000141012 | ||
HPRD : 08357 | ||
Vega : OTTHUMG00000137862 | ||
Protein | UniProt: P34059 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_GALNS | |
BioGPS: 2588 | ||
Pathway | NCI Pathway Interaction Database: GALNS | |
KEGG: GALNS | ||
REACTOME: GALNS | ||
Pathway Commons: GALNS | ||
Context | iHOP: GALNS | |
ligand binding site mutation search in PubMed: GALNS | ||
UCL Cancer Institute: GALNS | ||
Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. |
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GO ID | GO Term | PubMed ID |
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Ligand binding site mutations for GALNS |
![]() We represented ligand binding site mutations only. (You can see big image via clicking.) ![]() |
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LBS | AAchange of nsSNV | Cancer type | # samples | C165 | P163L | LUSC | 1 | H236 | T235M | UCEC | 1 | Y108 | A107S | 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 GALNS |
![]() Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
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![]() Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
LBS | AAchange of nsSNV | Relative stability change | H236 | T235M | -1.2426615 | Y108 | A107S | -1.2411174 | C165 | P163L | -0.010179753 |
(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) |
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Differential gene expression and gene-gene network for GALNS |
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Phenotype information for GALNS |
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Disease ID | Disease name | # PubMed | Association type |
umls:C0086651 | Mucopolysaccharidosis, MPS-IV-A | 34 | Biomarker, GeneticVariation |
umls:C0026707 | Mucopolysaccharidosis IV | 10 | Biomarker, GeneticVariation |
umls:C0021368 | Inflammation | 1 | Therapeutic |
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Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for GALNS |
![]() 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 status | DrugBank ID | Name | Type | Drug structure |
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Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NGA | N-ACETYL-D-GALACTOSAMINE | 4fdj | A | Y108 C165 H236 | NGA | N-ACETYL-D-GALACTOSAMINE | 4fdj | B | Y108 C165 H236 |
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Conservation information for LBS of GALNS |
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LBS | AA sequence | # species | Species | C165 | FGSPNCHFGPY | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris | C79 | SANPLCSPSRA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris | D288 | VFFTSDNGAAL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris | D39 | LLLLMDDMGWG | 2 | Homo sapiens, Canis lupus familiaris | D39 | VLLLMDDMGWG | 2 | Mus musculus, Rattus norvegicus | D40 | LLLMDDMGWGD | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris | H142 | IVGKWHLGHRP | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris | H236 | AIDATHAPVYA | 3 | Mus musculus, Rattus norvegicus, Canis lupus familiaris | H236 | AVDATHAPVYA | 1 | Homo sapiens | K140 | SKIVGKWHLGH | 2 | Homo sapiens, Canis lupus familiaris | K140 | NKIVGKWHLGH | 2 | Mus musculus, Rattus norvegicus | K310 | PFLCGKQTTFE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris | N289 | FFTSDNGAALI | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris | Q311 | FLCGKQTTFEG | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris | Y108 | HARNAYTPQEI | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris |
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