Joubert syndrome Gene Set

Dataset WikiPathways Pathways 2024
Category structural or functional annotations
Type pathway
Description An autosomal recessive disease that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones resulting from dysfunction of ciliary proteins (ciliopathy). (Human Disease Ontology, DOID_0050777)
External Link https://www.wikipathways.org/pathways/WP4656.html
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Genes

76 proteins participating in the Joubert syndrome pathway from the WikiPathways Pathways 2024 dataset.

Symbol Name
AHI1 Abelson helper integration site 1
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6
ARL13B ADP-ribosylation factor-like 13B
ARL2 ADP-ribosylation factor-like 2
ARL3 ADP-ribosylation factor-like 3
ARMC9 armadillo repeat containing 9
ARR3 arrestin 3, retinal (X-arrestin)
ATF4 activating transcription factor 4
ATM ATM serine/threonine kinase
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BBS1 Bardet-Biedl syndrome 1
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
CC2D2A coiled-coil and C2 domain containing 2A
CCP110 centriolar coiled coil protein 110kDa
CEP104 centrosomal protein 104kDa
CEP120 centrosomal protein 120kDa
CEP164 centrosomal protein 164kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CEP97 centrosomal protein 97kDa
CETN1 centrin, EF-hand protein, 1
CETN2 centrin, EF-hand protein, 2
CPLANE1 ciliogenesis and planar polarity effector complex subunit 1
CSPP1 centrosome and spindle pole associated protein 1
DVL1 dishevelled segment polarity protein 1
DVL3 dishevelled segment polarity protein 3
FLNA filamin A, alpha
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INVS inversin
KAT5 K(lysine) acetyltransferase 5
KIAA0586 KIAA0586
MKS1 Meckel syndrome, type 1
MRE11 MRE11 homolog, double strand break repair nuclease
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MYO5A myosin VA (heavy chain 12, myoxin)
MYO6 myosin VI
NEK8 NIMA-related kinase 8
NIN ninein (GSK3B interacting protein)
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NPHP4 nephronophthisis 4
OFD1 oral-facial-digital syndrome 1
PARP1 poly (ADP-ribose) polymerase 1
PCM1 pericentriolar material 1
PCNT pericentrin
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PIBF1 progesterone immunomodulatory binding factor 1
RAB3IP RAB3A interacting protein
RAB8A RAB8A, member RAS oncogene family
RAD50 RAD50 homolog (S. cerevisiae)
RHEB Ras homolog enriched in brain
RHOA ras homolog family member A
RP2 retinitis pigmentosa 2 (X-linked recessive)
RPGRIP1L RPGRIP1-like
SHH sonic hedgehog
SUFU suppressor of fused homolog (Drosophila)
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TMEM138 transmembrane protein 138
TMEM17 transmembrane protein 17
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TTC8 tetratricopeptide repeat domain 8
UNC119 unc-119 homolog (C. elegans)
ZNF423 zinc finger protein 423