Gene table of ALAS2 : 5'-aminolevulinate synthase 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with ALAS2OMIM linkNumber of associated genesgenes
300752PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKEDClinVar, OMIM link to OMIM 1ALAS2
PS300751ANEMIA, SIDEROBLASTICClinVar, OMIM, HUMSAVAR link to OMIM 4GLRX5, ALAS2, SLC25A38, HSPA9

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Annotation of the gene ALAS2

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
KEGG pathwayKEGG IDKEGG IC
Glycine, serine and threonine metabolismhsa002607.45
Porphyrin and chlorophyll metabolismhsa008607.41
Metabolic pathwayshsa011002.49
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Heme biosynthesisR-HSA-1894519.52
MetabolismR-HSA-14307282.34
Metabolism of porphyrinsR-HSA-1894458.89
Associated GO terms for Molecular function
GO termGO IDGO IC
anion bindingGO:00431684.17
coenzyme bindingGO:00506624.53
GO:00167499.05
N-acyltransferase activityGO:00164105.08
carboxylic acid bindingGO:00314064.64
transferase activity, transferring acyl groups other than amino-acyl groupsGO:00167474.37
ion bindingGO:00431671.36
catalytic activityGO:00038241.05
transferase activityGO:00167401.95
cofactor bindingGO:00480374.16
pyridoxal phosphate bindingGO:00301705.83
protein bindingGO:00055150.46
transferase activity, transferring acyl groupsGO:00167464.2
GO:00038709.05
glycine bindingGO:00165947.1
amino acid bindingGO:00165975.71
GO:00167488.64
bindingGO:00054880.18