Genes related to primary cilium development (based on CRISPR) (Homo sapiens)

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1-3Plasma membraneIFT-A=Other cilia/traffickingIFT dyneinDistalAppendageKinesin-IIBBSomeIFT-BTransition zoneBBSEvC ZoneCentrosomeRABL2ABBS2IFT88EVCIFT52TXNDC15CLUAP1TMEM67IFT74IFT27DYNC2LI1IFT20CDK20IFT80IFT172FAM92ABBS10MKS1CEP83TMEM216CEP192IFT81TTC30BIFT46TCTN3WDR60DYNLL1TRAF3IP1RPGRIP1LCBY1TTC26CEP76TCTEX1D2IFT57B9D1HSPB11KATNB1TMEM107WDR34TEDC2KIF3ATMEM17TEDC1DYNC2H1DYNLT1ARL3ARL13BBBS4BBS5BBS9BBS7BBS1TTC8MKKSARL6LZTFL1BBS12KIFAP3KIF3BICKRAB23CEP104ARMC9INPP5ETRAPPC11BGD2TMEM231TCTN2CC2D2ATCTN1SCLT1FBF1EVC2TTC23EFCAB7IQCEWDR19WDR35TTC21BIFT122IFT140TULP3IFT43FUZFOPNLCEP19OFD1C5orf42C2CD3PIBF1RSG1TTBK2TUBD1CEP44CEP120FGFR1OPWDPCPKIAA0753TUBE1CEP295CEP162MIB1CEP97SASS6Ciliary membraneCiliary axonemeAABBMembraneIFT cargoIFT complex AIFT complex BY shapedlink fiberTransitionfibersBBSomeCargoCytoplasmicdynein IIAnterogradeTransportRetrogradeTransportKinesin IITransition zoneDistal end of the basal body with transition fibersBasal body


Description

The primary cilium is related Hedgehog signaling, embryonic and brain[1] development. When it is disregulated, it leads to ciliopathies[2]. The genes in this pathway are related to several ciliary structures, which have been discovered with genome-wide CRISPR-mediated gene disruption.

Quality Tags

Ontology Terms

 

Bibliography

  1. Waters AM, Beales PL; ''Ciliopathies: an expanding disease spectrum.''; Pediatr Nephrol, 2011 PubMed Europe PMC Scholia
  2. Breslow DK, Hoogendoorn S, Kopp AR, Morgens DW, Vu BK, Kennedy MC, Han K, Li A, Hess GT, Bassik MC, Chen JK, Nachury MV; ''A CRISPR-based screen for Hedgehog signaling provides insights into ciliary function and ciliopathies.''; Nat Genet, 2018 PubMed Europe PMC Scholia
  3. Youn YH, Han YG; ''Primary Cilia in Brain Development and Diseases.''; Am J Pathol, 2018 PubMed Europe PMC Scholia

History

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CompareRevisionActionTimeUserComment
110928view13:43, 22 June 2020Fehrhartfixed typo
103330view11:23, 22 February 2019DeSlOntology Term : 'transport pathway' added !
103329view11:20, 22 February 2019DeSlModified title
103328view11:19, 22 February 2019DeSlModified description
103327view11:18, 22 February 2019DeSlRemoced wrong comment from BGD2
103326view11:17, 22 February 2019DeSlAdded lit.refs for ciliopathies
103325view11:14, 22 February 2019DeSlModified description
103324view11:12, 22 February 2019DeSlConnected other gene groups to drawing
103323view11:07, 22 February 2019DeSlAdded more drawings, connected first groups of genes to items in schematics
103322view10:45, 22 February 2019DeSlAdded transport direction
103321view10:42, 22 February 2019DeSlAdded some more graphical details from reference
103305view16:32, 21 February 2019DeSlAdded figure
103299view16:21, 21 February 2019DeSlModified description
103294view16:05, 21 February 2019DeSlNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
ARL13BGeneProduct200894 (Entrez Gene) ARL13B
ARL3GeneProduct403 (Entrez Gene)
ARL6GeneProductARL6 (HGNC)
ARMC9GeneProduct80210 (Entrez Gene)
B9D1GeneProduct27077 (Entrez Gene) B9D1
BBS10GeneProduct79738 (Entrez Gene)
BBS12GeneProduct166379 (Entrez Gene)
BBS1GeneProduct582 (Entrez Gene) BBS
BBS2GeneProduct583 (Entrez Gene) BBS
BBS4GeneProduct585 (Entrez Gene) BBS
BBS5GeneProduct129880 (Entrez Gene) BBS
BBS7GeneProduct55212 (Entrez Gene) BBS
BBS9GeneProduct27241 (Entrez Gene) BBS
BGD2GeneProduct
C2CD3GeneProduct26005 (Entrez Gene) TEDC1
C5orf42GeneProduct65250 (Entrez Gene) RABL2A
CBY1GeneProduct25776 (Entrez Gene) CBY1
CC2D2AGeneProduct57545 (Entrez Gene)
CDK20GeneProduct23552 (Entrez Gene)
CEP104GeneProduct9731 (Entrez Gene)
CEP120GeneProduct153241 (Entrez Gene) TEDC2
CEP162GeneProduct22832 (Entrez Gene) CEP192
CEP192GeneProduct55125 (Entrez Gene) CEP192
CEP19GeneProduct84984 (Entrez Gene) RABL2A
CEP295GeneProduct85459 (Entrez Gene) CEP192
CEP44GeneProduct80817 (Entrez Gene) TEDC2
CEP76GeneProduct79959 (Entrez Gene) CEP76
CEP83GeneProduct51134 (Entrez Gene)
CEP97GeneProduct79598 (Entrez Gene) CEP192
CLUAP1GeneProduct23059 (Entrez Gene) CLUAP1
DYNC2H1GeneProductENSG00000187240 (Ensembl)
DYNC2LI1GeneProductENSG00000138036 (Ensembl)
DYNLL1GeneProductENSG00000088986 (Ensembl)
DYNLT1GeneProductENSG00000146425 (Ensembl)
EFCAB7GeneProduct84455 (Entrez Gene)
EVCGeneProduct2121 (Entrez Gene)
EVC2GeneProduct132884 (Entrez Gene)
FAM92AGeneProduct137392 (Entrez Gene) FAM92A
FBF1GeneProduct85302 (Entrez Gene)
FGFR1OPGeneProduct11116 (Entrez Gene) CEP76
FOPNLGeneProduct123811 (Entrez Gene) RABL2A
FUZGeneProduct80199 (Entrez Gene) RABL2A
HSPB11GeneProduct51668 (Entrez Gene) HSPB11
ICKGeneProduct22858 (Entrez Gene)
IFT122GeneProduct55764 (Entrez Gene)
IFT140GeneProduct9742 (Entrez Gene)
IFT172GeneProductENSG00000138002 (Ensembl)
IFT20GeneProduct90410 (Entrez Gene) IFT20
IFT27GeneProductENSG00000100360 (Ensembl)
IFT43GeneProduct112752 (Entrez Gene)
IFT46GeneProduct56912 (Entrez Gene) IFT46
IFT52GeneProductENSG00000101052 (Ensembl)
IFT57GeneProductENSG00000114446 (Ensembl)
IFT74GeneProductENSG00000096872 (Ensembl)
IFT80GeneProduct57560 (Entrez Gene) IFT80
IFT81GeneProductENSG00000122970 (Ensembl)
IFT88GeneProduct8100 (Entrez Gene) IFT88
INPP5EGeneProduct56623 (Entrez Gene)
IQCEGeneProduct23288 (Entrez Gene)
KATNB1GeneProduct10300 (Entrez Gene) KATNB1
KIAA0753GeneProduct9851 (Entrez Gene) RABL2A
KIF3AGeneProductKIF3A (HGNC)
KIF3BGeneProductKIF3B (HGNC)
KIFAP3GeneProduct22920 (Entrez Gene)
LZTFL1GeneProduct54585 (Entrez Gene)
MIB1GeneProduct57534 (Entrez Gene) CEP192
MKKSGeneProduct8195 (Entrez Gene)
MKS1GeneProduct54903 (Entrez Gene)
OFD1GeneProduct8481 (Entrez Gene) RABL2A
PIBF1GeneProduct10464 (Entrez Gene) TEDC1
RAB23GeneProduct51715 (Entrez Gene)
RABL2AGeneProduct11159 (Entrez Gene) RABL2A
RPGRIP1LGeneProduct23322 (Entrez Gene) RPGRIP1
RSG1GeneProduct79363 (Entrez Gene) RABL2A
SASS6GeneProduct163786 (Entrez Gene) CEP192
SCLT1GeneProduct132320 (Entrez Gene)
TCTEX1D2GeneProductENSG00000213123 (Ensembl)
TCTN1GeneProduct79600 (Entrez Gene)
TCTN2GeneProduct79867 (Entrez Gene) CBY1
TCTN3GeneProduct26123 (Entrez Gene) TCTN3
TEDC1GeneProduct283643 (Entrez Gene) TEDC1
TEDC2GeneProduct80178 (Entrez Gene) TEDC2
TMEM107GeneProduct84314 (Entrez Gene) TMEM107
TMEM17GeneProduct200728 (Entrez Gene) TMEM17
TMEM216GeneProduct51259 (Entrez Gene) TMEM216
TMEM231GeneProduct79583 (Entrez Gene) TMEM216
TMEM67GeneProduct91147 (Entrez Gene) TMEM67
TRAF3IP1GeneProductENSG00000204104 (Ensembl)
TRAPPC11GeneProduct60684 (Entrez Gene)
TTBK2GeneProduct146057 (Entrez Gene) TEDC2
TTC21BGeneProductTTC21B (HGNC)
TTC23GeneProductTTC23 (HGNC)
TTC26GeneProductENSG00000105948 (Ensembl)
TTC30BGeneProductENSG00000196659 (Ensembl)
TTC8GeneProduct123016 (Entrez Gene) BBS
TUBD1GeneProduct51174 (Entrez Gene) TEDC2
TUBE1GeneProduct51175 (Entrez Gene) KATNB1
TULP3GeneProduct7289 (Entrez Gene)
TXNDC15GeneProduct79770 (Entrez Gene) TXNDC15
WDPCPGeneProduct51057 (Entrez Gene) CEP76
WDR19GeneProduct57728 (Entrez Gene)
WDR34GeneProductENSG00000119333 (Ensembl)
WDR35GeneProduct57539 (Entrez Gene)
WDR60GeneProductENSG00000126870 (Ensembl)

Annotated Interactions

No annotated interactions

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