Identity
HGNC
LOCATION
8q12.3
LOCUSID
ALIAS
AAH,BAH,CASQ2BP1,FDLAB,HAAH,JCTN,junctin
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 444
MIM: 600582
HGNC: 757
Ensembl: ENSG00000198363
Variants:
dbSNP: 444
ClinVar: 444
TCGA: ENSG00000198363
COSMIC: ASPH
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA451906 | warfarin | Chemical | ClinicalAnnotation | associated | PD | 27488176 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36897757 | 2023 | Overexpression of ASPH protein predicts poor outcomes in retroperitoneal liposarcoma patients. | 0 |
| 37132101 | 2023 | Aspartate β-hydroxylase (ASPH) Accelerates Intrahepatic Cholangiocarcinoma Metastasis via Upregulating SHH Signaling Pathway. | 0 |
| 36897757 | 2023 | Overexpression of ASPH protein predicts poor outcomes in retroperitoneal liposarcoma patients. | 0 |
| 37132101 | 2023 | Aspartate β-hydroxylase (ASPH) Accelerates Intrahepatic Cholangiocarcinoma Metastasis via Upregulating SHH Signaling Pathway. | 0 |
| 35918038 | 2022 | Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome. | 2 |
| 35918038 | 2022 | Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome. | 2 |
| 33251883 | 2021 | A novel mutation in the aspartate beta-hydroxylase (ASPH) gene is associated with a rare form of Traboulsi syndrome. | 0 |
| 33887099 | 2021 | Human Oxygenase Variants Employing a Single Protein Fe(II) Ligand Are Catalytically Active. | 8 |
| 34018898 | 2021 | Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH. | 3 |
| 34433181 | 2021 | Overexpression of Human Aspartyl (Asparaginyl) β-hydroxylase in NSCLC: Its Diagnostic Value by Means of Exosomes of Bronchoalveolar Lavage. | 3 |
| 33251883 | 2021 | A novel mutation in the aspartate beta-hydroxylase (ASPH) gene is associated with a rare form of Traboulsi syndrome. | 0 |
| 33887099 | 2021 | Human Oxygenase Variants Employing a Single Protein Fe(II) Ligand Are Catalytically Active. | 8 |
| 34018898 | 2021 | Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH. | 3 |
| 34433181 | 2021 | Overexpression of Human Aspartyl (Asparaginyl) β-hydroxylase in NSCLC: Its Diagnostic Value by Means of Exosomes of Bronchoalveolar Lavage. | 3 |
| 32107312 | 2020 | Kinetic parameters of human aspartate/asparagine-β-hydroxylase suggest that it has a possible function in oxygen sensing. | 17 |
Citation
Dessen P
ASPH (aspartate beta-hydroxylase)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/716/asph-(aspartate-beta-hydroxylase)
