Property Summary

NCBI Gene PubMed Count 43
PubMed Score 105.10
PubTator Score 140.64

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count
Myopia 99
Disease Target Count P-value
non-small cell lung cancer 2798 2.60116913158884E-33
lung adenocarcinoma 2714 7.52437979355878E-20
lung carcinoma 2844 1.29558775883613E-13
atypical teratoid/rhabdoid tumor 1095 4.27397939488092E-10
ovarian cancer 8492 9.74845492136124E-10
psoriasis 6685 3.8271177890802E-7
lung cancer 4473 1.62849688581857E-6
pilocytic astrocytoma 3086 1.81003993937788E-6
colon cancer 1475 8.25190265893099E-6
pediatric high grade glioma 2712 2.95354897460496E-5
oligodendroglioma 2849 5.2707652096227E-5
astrocytoma 1493 9.199953127696E-5
medulloblastoma, large-cell 6234 9.36998507193877E-5
osteosarcoma 7933 1.54068842514551E-4
group 3 medulloblastoma 2254 1.92625528626079E-4
intraductal papillary-mucinous carcinoma (IPMC) 2988 3.7858856856911E-4
primitive neuroectodermal tumor 3031 4.49103872393152E-4
Atopic dermatitis 944 6.19105608482306E-4
urothelial carcinoma 318 6.36749316485766E-4
ductal carcinoma in situ 1745 7.56399707091888E-4
invasive ductal carcinoma 2950 8.28603346171054E-4
breast carcinoma 1614 0.00234606778095112
glioblastoma 5572 0.00249484960211719
Down syndrome 548 0.00276758782323007
adrenocortical carcinoma 1427 0.00424088082342296
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.00510365218657571
progressive supranuclear palsy 674 0.00556017100723865
Pick disease 1893 0.00841910501839269
active ulcerative colitis 477 0.0141807240669311
fibroadenoma 557 0.0144266738017088
intraductal papillary-mucinous adenoma (IPMA) 2956 0.0224773552791738
mucosa-associated lymphoid tissue lymphoma 480 0.0283862469037671
Breast cancer 3099 0.0470700817962135
Disease Target Count Z-score Confidence
Globe disease 57 0.0 2.0
Disease Target Count Z-score Confidence
Leukodystrophy 30 0.0 4.0
Disease Target Count Z-score Confidence
Sialuria 9 3.076 1.5
Argininosuccinic aciduria 17 3.069 1.5

Expression

  Differential Expression (33)

Synonym

Accession P45381
Symbols ASP
ACY2

Gene

PDB

2I3C   2O4H   2O53   2Q51   4MRI   4MXU   4NFR   4TNU  

 GWAS Trait (1)

Gene RIF (19)

PMID Text
25003821 Four ASPA missense mutations associated with Canavan disease are structurally characterized.
24632142 Definitive evidence is presented to show that the recombinantly-expressed human aspartoacylase is not a glycoprotein.
24036223 report of 2 Egyptian sibling patients suspected of Canavan disease (CD); study revealed homozygosity for substitution T530C (Ile177Thr) in exon 4 of the ASPA gene in both sibs; substitution T530C (Ile177Thr) results in a novel missense mutation causing a CD phenotype with severe clinical characteristics
22878930 This is the first case report of ASPA mutation studies in Canavan disease from Indian subcontinent.
22750302 Human aspartoacylase gene expression was high not only in brain and kidney, but also in lung and liver.
22468686 a novel mutation Y88X within the aspartoacylase gene in a consanguineous family with an affected child diagnosed as Canavan disease.
22219087 Gene ASPA (NM_000049) was undertaken to sequence for mutation analysis.
22019069 We report on an Italian female patient with Canavan disease due to a missense mutation of the aspartoacylase gene and a 17p13.3 chromosomal microdeletion
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
18293939 New structure of human aspartoacylase complexed with a catalytic intermediate analogue, N-phosphonomethyl- l-aspartate, supports a carboxypeptidase-type mechanism for hydrolysis of the amide bond of the substrate, N-acetyl- l-aspartate.
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AA Sequence

MTSCHIAEEHIQKVAIFGGTHGNELTGVFLVKHWLENGAEIQRTGLEVKPFITNPRAVKKCTRYIDCDLN      1 - 70
RIFDLENLGKKMSEDLPYEVRRAQEINHLFGPKDSEDSYDIIFDLHNTTSNMGCTLILEDSRNNFLIQMF     71 - 140
HYIKTSLAPLPCYVYLIEHPSLKYATTRSIAKYPVGIEVGPQPQGVLRADILDQMRKMIKHALDFIHHFN    141 - 210
EGKEFPPCAIEVYKIIEKVDYPRDENGEIAAIIHPNLQDQDWKPLHPGDPMFLTLDGKTIPLGGDCTVYP    211 - 280
VFVNEAAYYEKKEAFAKTTKLTLNAKSIRCCLH                                         281 - 313
//

Text Mined References (43)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
25003821 2014 Aspartoacylase catalytic deficiency as the cause of Canavan disease: a structural perspective.
24632142 2014 Reexamination of aspartoacylase: is this human enzyme really a glycoprotein?
24036223 2013 New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23049088 2012 A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.
22878930 2013 Molecular characterisation and prenatal diagnosis of Asparto-acylase deficiency (Canavan disease)--report of two novel and two known mutations from the Indian subcontinent.
22750302 2012 Expression of aspartoacylase (ASPA) and Canavan disease.
22468686 2012 A novel aspartoacylase (ASPA) gene mutation in Canavan disease.
22284616 2012 Expression and localization of myosin-1d in the developing nervous system.
More...