Gene table of XPNPEP3 : X-prolyl aminopeptidase 3

Gene-disease associations table

Disease ID	Disease name	Source of annotation with XPNPEP3	OMIM link	Number of associated genes	genes
PS256100	NEPHRONOPHTHISIS	ClinVar, OMIM, HUMSAVAR	link to OMIM	15	NPHP3, XPNPEP3, NEK8, TTC21B, DCDC2, TMEM67, WDR19, ZNF423, CEP164, NPHP4, ANKS6, NPHP1, INVS, GLIS2, CEP83

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
aminopeptidase activity	GO:0004177	5.98
transition metal ion binding	GO:0046914	2.48
hydrolase activity	GO:0016787	1.9
catalytic activity	GO:0003824	1.05
cation binding	GO:0043169	1.4
manganese ion binding	GO:0030145	5.89
ion binding	GO:0043167	1.36
exopeptidase activity	GO:0008238	5.07
peptidase activity, acting on L-amino acid peptides	GO:0070011	3.26
binding	GO:0005488	0.18
peptidase activity	GO:0008233	3.23
metal ion binding	GO:0046872	1.41
metallopeptidase activity	GO:0008237	4.5