Ciliopathies (Homo sapiens)

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1Vesicular traffickingDisease groupsGolgiLIFT:Lipidated cargotrafficting machineryCiliary traffickingBasal bodytraffickingIFT dynein subunitsDistal appendageOuter dynein arm,inner dynein armEarly ciliogenesisCilium tip(3) BrainPlasma membraneBasal bodyCiliopathy proteins: Motility apparatusMotile cilium structureCentral pair(1) Cilia motility, respiratory, brain,heart, organ placement, spermOther: cytosol, Golgi, nucleus, etc.Cilium tip INV compartmentTranscription factorCentriole or basal bodyAxoneme and signallingGeneProductGeneProductGLI2ADCY6ANKS3DCDC2EFHC1C21orf2C2orf71CNGB1CNGA1CEP41ANKS6PKD1PKD2SMOPIK3R4OCRLNEK1LCA5IQCB1INPP5EICKGPR161FLCNUSP9XSDCCAG8RAB23PKHD1PKD1L1CEP104GLI3NEK8SUFUKIF7CRXNPHP3INVSEVC2EVCZIC2ALMS1AK7XPNPEP3TBC1D32POMGNT1PIK3R4GLIS2GALNT11DDX59ZNF423Primary ciliary dyskinesia (PCD)Bardet-Biedl syndrome (BBS)Carpenter syndrome (CRPT)Hydrolethalus syndrome (HLS)OMIM:135150 Birt-Hogg-Dube syndromeHoloprosencephaly (HPE)Senior-Loken syndrome (SLSN)OMIM:146510 Pallister-Hall syndrome (PHS)MORM syndromeMeckel syndrome (MKS)Oculocerebrorenal syndrome (OCRL)Hydrolethalus syndrome (HLS)OMIM:309000 Lowe syndrome (OCRL)Joubert syndrome (JBTS)(2) Multi-systemic (primary cilia),brain, kidney, skeleton, eyesOMIM:107200 Anosmia, isolated congenitalPolycystic kidney disease (PKD)Nephronophthisis (NPHP)Retinitis pigmentosa (RP)Cone-rod dysrtophy (CRD)OMIM:155255 MedulloblastomaLeber congenital amaurosis (LCA)OMIM:254770 Juvenile myoclonic epilepsy (JME)(4) Eyes(5) Kidney(6) NoseHearing lossShort-rib thoracic dysplasia (SRTD)Orofaciodigital syndrome (OFD)Jeune asphyxiating thoracic dystrophy (JATD)OMIM:175700 Grieg cephalopolysyndactyly syndromeOMIM:225500 Ellis-van Creveld syndrome (EVC)Situs inversus, heterotaxyCongenital heart disease (CHD)(7) Organ placement, heart(8) Skeleton(9) Ears(10) VariousLethal congenital contracture syndrome (LCCS)Polycystic kidney disease and hepatic diseasePituitary stalk interruption syndrome (PSIS)Male infertilityTULP1OFD1KIAA0556INTUFLCNPLK4PIBF1OCRLNME7HYLS1C21orf2C2CD3CEP104CEP78NEK2KIZFAM161ACSPP1CEP120CEP41CEP19CENPFARL2BPCFAP52NEK9ATXN10CC2D2AOFD1WDPCPTTLL5TOPORSCEP83TUBTAPT1RP2KIAA0586RAB28POC1APOC1BDistal appendageCEP164TTBK2SCLT1Subdistal appendageTransition zoneCEP290CFAP53CCDC28BKIAA0753BBS4TMEM237TMEM231TMEM216TMEM138TMEM107TMEM67TCTN2TMEM17TCTN1SPATA7SDCCAG8RPGRIP1LIQCB1RPGRIP1RP1L1C5orf42TCTN3RP1NPHP4CEP290NPHP1MKS1CC2D2ALCA5B9D2B9D1AHI1Centriolar satellitesUnclear or various localizationRSPH1GAS8LRRC6NME9MCIDASDNAL1DNAAF4CCDC151DNAAF5DNAI2CCNODNAH6DNAJB13PIH1D3CCDC40HYDINCCDC103DNAH11ARMC4ZMYND10TTC25DRC1SPAG1RSPH3CCDC114CCDC39CCDC65DNAAF5RSPH4ARSPH9DNAAF1C21orf59DNAI1DNAAF2DNAAF3Nexin-dynein regulatory complexRadial spokeCytoplasmRegulation of centrioles and transcription in multiciliated cellsNon-motile cilium structureIFT subcomplex B Disease groups: (2),(4),(5),(8)IFT cilia regulators Disease groups: (2),(4),(8)IFT dynein subunits Disease groups: (8)LIFT Disease groups: (2),(4)UNC119IFT172ARL3BBS2TTC21BCCNQWDR19IFT27BBS10CEP290MKS1BBS12MAKSDCCAG8ARL6BBS7BBIP1IFT43LZTFL1IFT122MKKSWDR35BBS4ICKC8orf37TRAF3IP1IFT57BBS1RP2BBS5IFT81TTC8IFT80BBS9WDPCPTRIM32CLUAP1PDE6DIFT52ARL13BIFT140IFT kinesin subunitsNo known associations with ciliopathiesIFT subcomplex ADisease groups: (2),(4),(5),(8)BBS proteinsBBSome (IFT-associated) Disease groups: (2),(4)BBSome regulators Disease groups: (2),(4),(5),(8)Plasma membraneBasal bodyRetrograde IFTDoublet MTsAxonemeINV CompartmentSignalling proteinMother centriole(basal body)Ciliary vesicleCentriole or basal bodyBasal bodydockingCiliary sheathSubdistal appendageTransition zoneCentriolar satellitesPlasma membranePericiliary membraneLipidated protein transportLipidated proteinAnterograde IFTKinesinIFT subcomplex ABBS proteinsIFT subcomplex BDYNC2LI1WDR60WDR34DYNC2H1TCTEX1D2DYNC2LI1WDR60WDR34DYNC2H1TCTEX1D2IFT dynein subunitsIFT kinesin subunitsNo known associations with ciliopathiesTTC21BWDR19IFT43IFT122WDR35IFT140IFT subcomplex ABBS2BBS10CEP290MKS1BBS12SDCCAG8ARL6BBS7BBIP1LZTFL1MKKSBBS4C8orf37BBS1BBS5TTC8BBS9WDPCPTRIM32BBS proteinsBBSome (IFT-associated) BBSome regulatorsIFT subcomplex BIFT172IFT27TRAF3IP1IFT57IFT81IFT80CLUAP1IFT52LIFT UNC119ARL3RP2PDE6DARL13BDisease groups: (1),(10)Disease groups: (2),(3),(4),(5),(6),(7),(8),(9),(10)Disease groups: (2),(3),(8)Disease groups: (1),(2),(3),(4),(5),(6),(7),(8)Disease groups: (2),(5)Disease groups: (3),(4)Disease groups: (2),(3),(4),(5),(6),(7),(8),(9),(10)Disease groups: (2),(4),(5),(8),(10)Disease groups: (2)Disease groups: (1),(2),(4),(5),(8)Disease groups: (1),(2),(4),(5),(7),(8)Disease groups: (2),(4),(5),(7),(8),(10)Disease groups: (8)Disease groups: (2),(4),(5),(8)Disease groups: (2),(4)Disease groups: (2),(4),(5),(8)Disease groups: (2),(4),(5),(8)Disease groups: (2),(4)IFT cilia regulators CCNQMAKICKDisease groups: (2),(4),(8)


Description

Incomplete pathway. Taken from Genes and molecular pathways underpinning ciliopathies by Jeremy F. Reiter and Michel R. Leroux [1].

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Ontology Terms

 

Bibliography

  1. Reiter JF, Leroux MR; ''Genes and molecular pathways underpinning ciliopathies.''; Nat Rev Mol Cell Biol, 2017 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
128947view12:20, 24 February 2024EweitzSoften disease colors
128942view01:26, 24 February 2024EweitzFix typo, add conventional space
128941view01:24, 24 February 2024EweitzFix typo, remove duplicate disease node
128940view01:22, 24 February 2024EweitzOntology Term : 'infertility' added !
128939view01:22, 24 February 2024EweitzOntology Term : 'male infertility' added !
128938view01:22, 24 February 2024EweitzOntology Term : 'lethal congenital contracture syndrome' added !
128937view01:21, 24 February 2024EweitzOntology Term : 'Birt-Hogg-Dube syndrome' added !
128936view01:21, 24 February 2024EweitzOntology Term : 'sensorineural hearing loss' added !
128935view01:19, 24 February 2024EweitzOntology Term : 'orofaciodigital syndrome' added !
128934view01:19, 24 February 2024EweitzOntology Term : 'asphyxiating thoracic dystrophy' added !
128933view01:19, 24 February 2024EweitzOntology Term : 'Greig cephalopolysyndactyly syndrome' added !
128932view01:18, 24 February 2024EweitzOntology Term : 'Ellis-Van Creveld syndrome' added !
128931view01:17, 24 February 2024EweitzOntology Term : 'congenital heart disease' added !
128930view01:16, 24 February 2024EweitzOntology Term : 'polycystic kidney disease' added !
128929view01:16, 24 February 2024EweitzOntology Term : 'nephronophthisis' added !
128928view01:16, 24 February 2024EweitzOntology Term : 'retinitis pigmentosa' added !
128927view01:15, 24 February 2024EweitzOntology Term : 'cone-rod dystrophy' added !
128926view01:15, 24 February 2024EweitzOntology Term : 'Leber congenital amaurosis' added !
128925view01:15, 24 February 2024EweitzOntology Term : 'medulloblastoma' added !
128924view01:14, 24 February 2024EweitzOntology Term : 'juvenile myoclonic epilepsy' added !
128923view01:14, 24 February 2024EweitzOntology Term : 'holoprosencephaly' added !
128922view01:14, 24 February 2024EweitzOntology Term : 'Senior-Loken syndrome' added !
128921view01:13, 24 February 2024EweitzOntology Term : 'Pallister-Hall syndrome' added !
128920view01:13, 24 February 2024EweitzOntology Term : 'Meckel syndrome' added !
128919view01:12, 24 February 2024EweitzOntology Term : 'oculocerebrorenal syndrome' added !
128918view01:11, 24 February 2024EweitzOntology Term : 'Joubert syndrome' added !
128917view01:11, 24 February 2024EweitzOntology Term : 'hydrolethalus syndrome' added !
128916view01:11, 24 February 2024EweitzOntology Term : 'Carpenter syndrome' added !
128915view01:10, 24 February 2024EweitzOntology Term : 'Bardet-Biedl syndrome' added !
128914view01:10, 24 February 2024EweitzOntology Term : 'primary ciliary dyskinesia' added !
128230view13:36, 29 January 2024EweitzSoften disease color
110008view18:16, 12 April 2020AlexanderPicoOntology Term : 'disease pathway' added !
110007view18:05, 12 April 2020AlexanderPicoModified description
110006view17:59, 12 April 2020AlexanderPicochanged interactions into graphical lines; removed stray gene produce nodes
109918view17:03, 6 April 2020KhanspersOntology Term : 'ciliopathy' added !
109093view04:45, 17 February 2020RleeDownsized diagram 3
109089view02:16, 17 February 2020RleeUpdated graphics: added disease gropu boxes and added shapes to 3rd diagram
109088view00:48, 17 February 2020RleeImproved graphic: added colour to GeneProduct nodes
109028view04:55, 14 February 2020RleeMade semi-circles (arcs) transparent, graphical improvement.
109027view04:53, 14 February 2020RleeMade semi-circles (arcs) transparent.
109026view04:51, 14 February 2020RleeUpdated diagrams.
109025view04:43, 14 February 2020RleeUpdated diagrams.
109020view03:23, 14 February 2020RleeUpdated diagrams.
109019view02:59, 14 February 2020RleeUpdated diagrams.
109016view02:26, 14 February 2020RleeUpdated diagrams.
109015view02:05, 14 February 2020RleeModified description
109014view00:09, 14 February 2020RleeModified description
109013view00:01, 14 February 2020RleeModified description
109012view23:59, 13 February 2020RleeNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
ADCY6GeneProductENSG00000174233 (Ensembl)
AHI1GeneProductENSG00000135541 (Ensembl)
AK7GeneProductENSG00000140057 (Ensembl)
ALMS1GeneProductENSG00000116127 (Ensembl)
ANKS3GeneProductENSG00000168096 (Ensembl)
ANKS6GeneProductENSG00000165138 (Ensembl)
ARL13BGeneProductENSG00000169379 (Ensembl)
ARL2BPGeneProductENSG00000102931 (Ensembl)
ARL3GeneProductENSG00000138175 (Ensembl)
ARL6GeneProductENSG00000113966 (Ensembl)
ARMC4GeneProductENSG00000169126 (Ensembl)
ATXN10GeneProductENSG00000130638 (Ensembl)
B9D1GeneProductENSG00000108641 (Ensembl)
B9D2GeneProductENSG00000123810 (Ensembl)
BBIP1GeneProductENSG00000214413 (Ensembl)
BBS10GeneProductENSG00000179941 (Ensembl)
BBS12GeneProductENSG00000181004 (Ensembl)
BBS1GeneProductENSG00000174483 (Ensembl)
BBS2GeneProductENSG00000125124 (Ensembl)
BBS4GeneProductENSG00000140463 (Ensembl)
BBS5GeneProductENSG00000163093 (Ensembl)
BBS7GeneProductENSG00000138686 (Ensembl)
BBS9GeneProductENSG00000122507 (Ensembl)
C21orf2GeneProductENSG00000160226 (Ensembl)
C21orf59GeneProductENSG00000159079 (Ensembl)
C2CD3GeneProductENSG00000168014 (Ensembl)
C2orf71GeneProductENSG00000179270 (Ensembl)
C5orf42GeneProductENSG00000197603 (Ensembl)
C8orf37GeneProductENSG00000156172 (Ensembl)
CC2D2AGeneProductENSG00000048342 (Ensembl)
CCDC103GeneProductENSG00000167131 (Ensembl)
CCDC114GeneProductENSG00000105479 (Ensembl)
CCDC151GeneProductENSG00000198003 (Ensembl)
CCDC28BGeneProductENSG00000160050 (Ensembl)
CCDC39GeneProductENSG00000284862 (Ensembl)
CCDC40GeneProductENSG00000141519 (Ensembl)
CCDC65GeneProductENSG00000139537 (Ensembl)
CCNOGeneProductENSG00000152669 (Ensembl)
CCNQGeneProductENSG00000262919 (Ensembl)
CENPFGeneProductENSG00000117724 (Ensembl)
CEP104GeneProductENSG00000116198 (Ensembl)
CEP120GeneProductENSG00000168944 (Ensembl)
CEP164GeneProductENSG00000110274 (Ensembl)
CEP19GeneProductENSG00000174007 (Ensembl)
CEP290GeneProductENSG00000198707 (Ensembl)
CEP41GeneProductENSG00000106477 (Ensembl)
CEP78GeneProductENSG00000148019 (Ensembl)
CEP83GeneProductENSG00000173588 (Ensembl)
CFAP52GeneProductENSG00000166596 (Ensembl)
CFAP53GeneProductENSG00000172361 (Ensembl)
CLUAP1GeneProductENSG00000103351 (Ensembl)
CNGA1GeneProductENSG00000198515 (Ensembl)
CNGB1GeneProductENSG00000070729 (Ensembl)
CRXGeneProductENSG00000105392 (Ensembl)
CSPP1GeneProductENSG00000104218 (Ensembl)
DCDC2GeneProductENSG00000146038 (Ensembl)
DDX59GeneProductENSG00000118197 (Ensembl)
DNAAF1GeneProductENSG00000154099 (Ensembl)
DNAAF2GeneProductENSG00000165506 (Ensembl)
DNAAF3GeneProductENSG00000167646 (Ensembl)
DNAAF4GeneProductENSG00000256061 (Ensembl)
DNAAF5GeneProductENSG00000164818 (Ensembl)
DNAH11GeneProductENSG00000105877 (Ensembl)
DNAH6GeneProductENSG00000115423 (Ensembl)
DNAI1GeneProductENSG00000122735 (Ensembl)
DNAI2GeneProductENSG00000171595 (Ensembl)
DNAJB13GeneProductENSG00000187726 (Ensembl)
DNAL1GeneProductENSG00000119661 (Ensembl)
DRC1GeneProductENSG00000157856 (Ensembl)
DYNC2H1GeneProductENSG00000187240 (Ensembl)
DYNC2LI1GeneProductENSG00000138036 (Ensembl)
EFHC1GeneProductENSG00000096093 (Ensembl)
EVC2GeneProductENSG00000173040 (Ensembl)
EVCGeneProductENSG00000072840 (Ensembl)
FAM161AGeneProductENSG00000170264 (Ensembl)
FLCNGeneProductENSG00000154803 (Ensembl)
GALNT11GeneProductENSG00000178234 (Ensembl)
GAS8GeneProductENSG00000141013 (Ensembl)
GLI2GeneProductENSG00000074047 (Ensembl)
GLI3GeneProductENSG00000106571 (Ensembl)
GLIS2GeneProductENSG00000126603 (Ensembl)
GPR161GeneProductENSG00000143147 (Ensembl)
GeneProductGeneProduct
HYDINGeneProductENSG00000157423 (Ensembl)
HYLS1GeneProductENSG00000198331 (Ensembl)
ICKGeneProductENSG00000112144 (Ensembl)
IFT122GeneProductENSG00000163913 (Ensembl)
IFT140GeneProductENSG00000187535 (Ensembl)
IFT172GeneProductENSG00000138002 (Ensembl)
IFT27GeneProductENSG00000100360 (Ensembl)
IFT43GeneProductENSG00000119650 (Ensembl)
IFT52GeneProductENSG00000101052 (Ensembl)
IFT57GeneProductENSG00000114446 (Ensembl)
IFT80GeneProductENSG00000068885 (Ensembl)
IFT81GeneProductENSG00000122970 (Ensembl)
INPP5EGeneProductENSG00000148384 (Ensembl)
INTUGeneProductENSG00000164066 (Ensembl)
INVSGeneProductENSG00000119509 (Ensembl)
IQCB1GeneProductENSG00000173226 (Ensembl)
KIAA0556GeneProductENSG00000047578 (Ensembl)
KIAA0586GeneProductENSG00000100578 (Ensembl)
KIAA0753GeneProductENSG00000198920 (Ensembl)
KIF7GeneProductENSG00000166813 (Ensembl)
KIZGeneProductENSG00000088970 (Ensembl)
LCA5GeneProductENSG00000135338 (Ensembl)
LRRC6GeneProductENSG00000129295 (Ensembl)
LZTFL1GeneProductENSG00000163818 (Ensembl)
MAKGeneProductENSG00000111837 (Ensembl)
MCIDASGeneProductENSG00000234602 (Ensembl)
MKKSGeneProductENSG00000125863 (Ensembl)
MKS1GeneProductENSG00000011143 (Ensembl)
NEK1GeneProductENSG00000137601 (Ensembl)
NEK2GeneProductENSG00000117650 (Ensembl)
NEK8GeneProductENSG00000160602 (Ensembl)
NEK9GeneProductENSG00000119638 (Ensembl)
NME7GeneProductENSG00000143156 (Ensembl)
NME9GeneProductENSG00000181322 (Ensembl)
NPHP1GeneProductENSG00000144061 (Ensembl)
NPHP3GeneProductENSG00000113971 (Ensembl)
NPHP4GeneProductENSG00000131697 (Ensembl)
OCRLGeneProductENSG00000122126 (Ensembl)
OFD1GeneProductENSG00000046651 (Ensembl)
PDE6DGeneProductENSG00000156973 (Ensembl)
PIBF1GeneProductENSG00000083535 (Ensembl)
PIH1D3GeneProductENSG00000080572 (Ensembl)
PIK3R4GeneProductENSG00000196455 (Ensembl)
PKD1GeneProductENSG00000008710 (Ensembl)
PKD1L1GeneProductENSG00000158683 (Ensembl)
PKD2GeneProductENSG00000118762 (Ensembl)
PKHD1GeneProductENSG00000170927 (Ensembl)
PLK4GeneProductENSG00000142731 (Ensembl)
POC1AGeneProductENSG00000164087 (Ensembl)
POC1BGeneProductENSG00000139323 (Ensembl)
POMGNT1GeneProductENSG00000085998 (Ensembl)
RAB23GeneProductENSG00000112210 (Ensembl)
RAB28GeneProductENSG00000157869 (Ensembl)
RP1GeneProductENSG00000104237 (Ensembl)
RP1L1GeneProductENSG00000183638 (Ensembl)
RP2GeneProductENSG00000102218 (Ensembl)
RPGRIP1GeneProductENSG00000092200 (Ensembl)
RPGRIP1LGeneProductENSG00000103494 (Ensembl)
RSPH1GeneProductENSG00000160188 (Ensembl)
RSPH3GeneProductENSG00000130363 (Ensembl)
RSPH4AGeneProductENSG00000111834 (Ensembl)
RSPH9GeneProductENSG00000172426 (Ensembl)
SCLT1GeneProductENSG00000151466 (Ensembl)
SDCCAG8GeneProductENSG00000054282 (Ensembl)
SMOGeneProductENSG00000128602 (Ensembl)
SPAG1GeneProductENSG00000104450 (Ensembl)
SPATA7GeneProductENSG00000042317 (Ensembl)
SUFUGeneProductENSG00000107882 (Ensembl)
TAPT1GeneProductENSG00000169762 (Ensembl)
TBC1D32GeneProductENSG00000146350 (Ensembl)
TCTEX1D2GeneProductENSG00000213123 (Ensembl)
TCTN1GeneProductENSG00000204852 (Ensembl)
TCTN2GeneProductENSG00000168778 (Ensembl)
TCTN3GeneProductENSG00000119977 (Ensembl)
TMEM107GeneProductENSG00000179029 (Ensembl)
TMEM138GeneProductENSG00000149483 (Ensembl)
TMEM17GeneProductENSG00000186889 (Ensembl)
TMEM216GeneProductENSG00000187049 (Ensembl)
TMEM231GeneProductENSG00000205084 (Ensembl)
TMEM237GeneProductENSG00000155755 (Ensembl)
TMEM67GeneProductENSG00000164953 (Ensembl)
TOPORSGeneProductENSG00000197579 (Ensembl)
TRAF3IP1GeneProductENSG00000204104 (Ensembl)
TRIM32GeneProductENSG00000119401 (Ensembl)
TTBK2GeneProductENSG00000128881 (Ensembl)
TTC21BGeneProductENSG00000123607 (Ensembl)
TTC25GeneProductENSG00000204815 (Ensembl)
TTC8GeneProductENSG00000165533 (Ensembl)
TTLL5GeneProductENSG00000119685 (Ensembl)
TUBGeneProductENSG00000166402 (Ensembl)
TULP1GeneProductENSG00000112041 (Ensembl)
UNC119GeneProductENSG00000109103 (Ensembl)
USP9XGeneProductENSG00000124486 (Ensembl)
WDPCPGeneProductENSG00000143951 (Ensembl)
WDR19GeneProductENSG00000157796 (Ensembl)
WDR34GeneProductENSG00000119333 (Ensembl)
WDR35GeneProductENSG00000118965 (Ensembl)
WDR60GeneProductENSG00000126870 (Ensembl)
XPNPEP3GeneProductENSG00000196236 (Ensembl)
ZIC2GeneProductENSG00000043355 (Ensembl)
ZMYND10GeneProductENSG00000004838 (Ensembl)
ZNF423GeneProductENSG00000102935 (Ensembl)

Annotated Interactions

No annotated interactions

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