Genes related to primary cilium development (based on CRISPR) (WP4536)

Homo sapiens

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The primary cilium is related Hedgehog signaling, embryonic and brain[https://www.ncbi.nlm.nih.gov/pubmed/29030052] development. When it is disregulated, it leads to ciliopathies[https://www.ncbi.nlm.nih.gov/pubmed/21210154]. The genes in this pathway are related to several ciliary structures, which have been discovered with genome-wide CRISPR-mediated gene disruption.

Authors

Denise Slenter and Friederike Ehrhart

Activity

last edited

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Organisms

Homo sapiens

Communities

Annotations

Pathway Ontology

transport pathway

Participants
Query Drugst.One

Label Type Compact URI Comment
RABL2A GeneProduct ncbigene:11159 RABL2A
BBS2 GeneProduct ncbigene:583 BBS
IFT88 GeneProduct ncbigene:8100 IFT88
EVC GeneProduct ncbigene:2121
IFT52 GeneProduct ensembl:ENSG00000101052
TXNDC15 GeneProduct ncbigene:79770 TXNDC15
CLUAP1 GeneProduct ncbigene:23059 CLUAP1
TMEM67 GeneProduct ncbigene:91147 TMEM67
IFT74 GeneProduct ensembl:ENSG00000096872
IFT27 GeneProduct ensembl:ENSG00000100360
DYNC2LI1 GeneProduct ensembl:ENSG00000138036
IFT20 GeneProduct ncbigene:90410 IFT20
CDK20 GeneProduct ncbigene:23552
IFT80 GeneProduct ncbigene:57560 IFT80
IFT172 GeneProduct ensembl:ENSG00000138002
FAM92A GeneProduct ncbigene:137392 FAM92A
BBS10 GeneProduct ncbigene:79738
MKS1 GeneProduct ncbigene:54903
CEP83 GeneProduct ncbigene:51134
TMEM216 GeneProduct ncbigene:51259 TMEM216
CEP192 GeneProduct ncbigene:55125 CEP192
IFT81 GeneProduct ensembl:ENSG00000122970
TTC30B GeneProduct ensembl:ENSG00000196659
IFT46 GeneProduct ncbigene:56912 IFT46
TCTN3 GeneProduct ncbigene:26123 TCTN3
WDR60 GeneProduct ensembl:ENSG00000126870
DYNLL1 GeneProduct ensembl:ENSG00000088986
TRAF3IP1 GeneProduct ensembl:ENSG00000204104
RPGRIP1L GeneProduct ncbigene:23322 RPGRIP1
CBY1 GeneProduct ncbigene:25776 CBY1
TTC26 GeneProduct ensembl:ENSG00000105948
CEP76 GeneProduct ncbigene:79959 CEP76
TCTEX1D2 GeneProduct ensembl:ENSG00000213123
IFT57 GeneProduct ensembl:ENSG00000114446
B9D1 GeneProduct ncbigene:27077 B9D1
HSPB11 GeneProduct ncbigene:51668 HSPB11
KATNB1 GeneProduct ncbigene:10300 KATNB1
TMEM107 GeneProduct ncbigene:84314 TMEM107
WDR34 GeneProduct ensembl:ENSG00000119333
TEDC2 GeneProduct ncbigene:80178 TEDC2
KIF3A GeneProduct hgnc.symbol:KIF3A
TMEM17 GeneProduct ncbigene:200728 TMEM17
TEDC1 GeneProduct ncbigene:283643 TEDC1
DYNC2H1 GeneProduct ensembl:ENSG00000187240
DYNLT1 GeneProduct ensembl:ENSG00000146425
ARL3 GeneProduct ncbigene:403
ARL13B GeneProduct ncbigene:200894 ARL13B
BBS4 GeneProduct ncbigene:585 BBS
BBS5 GeneProduct ncbigene:129880 BBS
BBS9 GeneProduct ncbigene:27241 BBS
BBS7 GeneProduct ncbigene:55212 BBS
BBS1 GeneProduct ncbigene:582 BBS
TTC8 GeneProduct ncbigene:123016 BBS
MKKS GeneProduct ncbigene:8195
ARL6 GeneProduct hgnc.symbol:ARL6
LZTFL1 GeneProduct ncbigene:54585
BBS12 GeneProduct ncbigene:166379
KIFAP3 GeneProduct ncbigene:22920
KIF3B GeneProduct hgnc.symbol:KIF3B
ICK GeneProduct ncbigene:22858
RAB23 GeneProduct ncbigene:51715
CEP104 GeneProduct ncbigene:9731
ARMC9 GeneProduct ncbigene:80210
INPP5E GeneProduct ncbigene:56623
TRAPPC11 GeneProduct ncbigene:60684
TMEM231 GeneProduct ncbigene:79583 TMEM216
TCTN2 GeneProduct ncbigene:79867 CBY1
CC2D2A GeneProduct ncbigene:57545
TCTN1 GeneProduct ncbigene:79600
SCLT1 GeneProduct ncbigene:132320
FBF1 GeneProduct ncbigene:85302
EVC2 GeneProduct ncbigene:132884
TTC23 GeneProduct hgnc.symbol:TTC23
EFCAB7 GeneProduct ncbigene:84455
IQCE GeneProduct ncbigene:23288
WDR19 GeneProduct ncbigene:57728
WDR35 GeneProduct ncbigene:57539
TTC21B GeneProduct hgnc.symbol:TTC21B
IFT122 GeneProduct ncbigene:55764
IFT140 GeneProduct ncbigene:9742
TULP3 GeneProduct ncbigene:7289
IFT43 GeneProduct ncbigene:112752
FUZ GeneProduct ncbigene:80199 RABL2A
FOPNL GeneProduct ncbigene:123811 RABL2A
CEP19 GeneProduct ncbigene:84984 RABL2A
OFD1 GeneProduct ncbigene:8481 RABL2A
C5orf42 GeneProduct ncbigene:65250 RABL2A
C2CD3 GeneProduct ncbigene:26005 TEDC1
PIBF1 GeneProduct ncbigene:10464 TEDC1
RSG1 GeneProduct ncbigene:79363 RABL2A
TTBK2 GeneProduct ncbigene:146057 TEDC2
TUBD1 GeneProduct ncbigene:51174 TEDC2
CEP44 GeneProduct ncbigene:80817 TEDC2
CEP120 GeneProduct ncbigene:153241 TEDC2
FGFR1OP GeneProduct ncbigene:11116 CEP76
WDPCP GeneProduct ncbigene:51057 CEP76
KIAA0753 GeneProduct ncbigene:9851 RABL2A
TUBE1 GeneProduct ncbigene:51175 KATNB1
CEP295 GeneProduct ncbigene:85459 CEP192
CEP162 GeneProduct ncbigene:22832 CEP192
MIB1 GeneProduct ncbigene:57534 CEP192
CEP97 GeneProduct ncbigene:79598 CEP192
SASS6 GeneProduct ncbigene:163786 CEP192

References

  1. Ciliopathies: an expanding disease spectrum. Waters AM, Beales PL. Pediatr Nephrol. 2011 Jul;26(7):1039–56. PubMed Europe PMC Scholia
  2. Primary Cilia in Brain Development and Diseases. Youn YH, Han YG. Am J Pathol. 2018 Jan;188(1):11–22. PubMed Europe PMC Scholia
  3. A CRISPR-based screen for Hedgehog signaling provides insights into ciliary function and ciliopathies. Breslow DK, Hoogendoorn S, Kopp AR, Morgens DW, Vu BK, Kennedy MC, et al. Nat Genet. 2018 Mar;50(3):460–71. PubMed Europe PMC Scholia