Gene table of PDE6D : phosphodiesterase 6D

Gene-disease associations table

Disease IDDisease nameSource of annotation with PDE6DOMIM linkNumber of associated genesgenes
PS213300JOUBERT SYNDROMEClinVar, OMIM link to OMIM 27TCTN1, C5orf42, PDE6D, ARL13B, KIF7, TMEM231, TMEM67, KIAA0586, CC2D2A, MKS1, CEP104, AHI1, CEP41, ZNF423, EXOC8, CEP290, TCTN3, NPHP1, INPP5E, OFD1, TMEM237, TMEM216, KIAA0556, CSPP1, TMEM138, RPGRIP1L, TCTN2

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Annotation of the gene PDE6D

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
KEGG pathwayKEGG IDKEGG IC
Purine metabolismhsa002305.28
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
ARL13B-mediated ciliary trafficking of INPP5ER-HSA-562495811.4
Cargo trafficking to the periciliary membraneR-HSA-56209207.31
Organelle biogenesis and maintenanceR-HSA-18522414.63
Assembly of the primary ciliumR-HSA-56178335.44
Associated GO terms for Molecular function
GO termGO IDGO IC
hydrolase activityGO:00167871.9
cyclic-nucleotide phosphodiesterase activityGO:00041126.48
enzyme bindingGO:00198992.27
GTPase regulator activityGO:00306954.01
3',5'-cyclic-nucleotide phosphodiesterase activityGO:00041146.52
enzyme regulator activityGO:00302342.85
phosphoric diester hydrolase activityGO:00080815.23
Rab GTPase bindingGO:00171374.96
hydrolase activity, acting on ester bondsGO:00167883.1
GTPase inhibitor activityGO:00050957.1
phosphoric ester hydrolase activityGO:00425783.82
small GTPase bindingGO:00312674.13
GTPase bindingGO:00510204.05
bindingGO:00054880.18
protein bindingGO:00055150.46
Ras GTPase bindingGO:00170164.2
enzyme inhibitor activityGO:00048573.78
molecular function regulatorGO:00987722.51
nucleoside-triphosphatase regulator activityGO:00605893.92
catalytic activityGO:00038241.05