Gene table of ASPH : aspartate beta-hydroxylase

Gene-disease associations table

Disease IDDisease nameSource of annotation with ASPHOMIM linkNumber of associated genesgenes
601552FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBSOMIM, HUMSAVAR link to OMIM 1ASPH

Download the gene annotation in CSV format

Annotation of the gene ASPH

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Ion channel transportR-HSA-9837125.34
Transmembrane transport of small moleculesR-HSA-3825513.79
Stimuli-sensing channelsR-HSA-26723516.28
Associated GO terms for Molecular function
GO termGO IDGO IC
cation bindingGO:00431691.4
metal ion bindingGO:00468721.41
electron carrier activityGO:00090554.97
calcium ion bindingGO:00055093.17
dioxygenase activityGO:00512135.25
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donorsGO:00167065.95
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygenGO:00167054.65
ion bindingGO:00431671.36
catalytic activityGO:00038241.05
structural constituent of muscleGO:00083076.02
bindingGO:00054880.18
protein bindingGO:00055150.46
ion channel bindingGO:00443255.02
GO:00045979.74
structural molecule activityGO:00051983.1
oxidoreductase activityGO:00164913.12