Genes related to primary cilium development (based on CRISPR) (Homo sapiens)
From WikiPathways
Description
The primary cilium is related Hedgehog signaling and embryonic development. When it is disregulated, it leads to ciliopathies[1].
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
- 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
- Waters AM, Beales PL; ''Ciliopathies: an expanding disease spectrum.''; Pediatr Nephrol, 2011 PubMed Europe PMC Scholia
- Youn YH, Han YG; ''Primary Cilia in Brain Development and Diseases.''; Am J Pathol, 2018 PubMed Europe PMC Scholia
History
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External references
DataNodes
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Name | Type | Database reference | Comment |
---|---|---|---|
ARL13B | GeneProduct | 200894 (Entrez Gene) | ARL13B |
ARL3 | GeneProduct | 403 (Entrez Gene) | |
ARL6 | GeneProduct | ARL6 (HGNC) | |
ARMC9 | GeneProduct | 80210 (Entrez Gene) | |
B9D1 | GeneProduct | 27077 (Entrez Gene) | B9D1 |
BBS10 | GeneProduct | 79738 (Entrez Gene) | |
BBS12 | GeneProduct | 166379 (Entrez Gene) | |
BBS1 | GeneProduct | 582 (Entrez Gene) | BBS |
BBS2 | GeneProduct | 583 (Entrez Gene) | BBS |
BBS4 | GeneProduct | 585 (Entrez Gene) | BBS |
BBS5 | GeneProduct | 129880 (Entrez Gene) | BBS |
BBS7 | GeneProduct | 55212 (Entrez Gene) | BBS |
BBS9 | GeneProduct | 27241 (Entrez Gene) | BBS |
BGD2 | GeneProduct | B9D1 | |
C2CD3 | GeneProduct | 26005 (Entrez Gene) | TEDC1 |
C5orf42 | GeneProduct | 65250 (Entrez Gene) | RABL2A |
CBY1 | GeneProduct | 25776 (Entrez Gene) | CBY1 |
CC2D2A | GeneProduct | 57545 (Entrez Gene) | |
CDK20 | GeneProduct | 23552 (Entrez Gene) | |
CEP104 | GeneProduct | 9731 (Entrez Gene) | |
CEP120 | GeneProduct | 153241 (Entrez Gene) | TEDC2 |
CEP162 | GeneProduct | 22832 (Entrez Gene) | CEP192 |
CEP192 | GeneProduct | 55125 (Entrez Gene) | CEP192 |
CEP19 | GeneProduct | 84984 (Entrez Gene) | RABL2A |
CEP295 | GeneProduct | 85459 (Entrez Gene) | CEP192 |
CEP44 | GeneProduct | 80817 (Entrez Gene) | TEDC2 |
CEP76 | GeneProduct | 79959 (Entrez Gene) | CEP76 |
CEP83 | GeneProduct | 51134 (Entrez Gene) | |
CEP97 | GeneProduct | 79598 (Entrez Gene) | CEP192 |
CLUAP1 | GeneProduct | 23059 (Entrez Gene) | CLUAP1 |
DYNC2H1 | GeneProduct | ENSG00000187240 (Ensembl) | |
DYNC2LI1 | GeneProduct | ENSG00000138036 (Ensembl) | |
DYNLL1 | GeneProduct | ENSG00000088986 (Ensembl) | |
DYNLT1 | GeneProduct | ENSG00000146425 (Ensembl) | |
EFCAB7 | GeneProduct | 84455 (Entrez Gene) | |
EVC | GeneProduct | 2121 (Entrez Gene) | |
EVC2 | GeneProduct | 132884 (Entrez Gene) | |
FAM92A | GeneProduct | 137392 (Entrez Gene) | FAM92A |
FBF1 | GeneProduct | 85302 (Entrez Gene) | |
FGFR1OP | GeneProduct | 11116 (Entrez Gene) | CEP76 |
FOPNL | GeneProduct | 123811 (Entrez Gene) | RABL2A |
FUZ | GeneProduct | 80199 (Entrez Gene) | RABL2A |
HSPB11 | GeneProduct | 51668 (Entrez Gene) | HSPB11 |
ICK | GeneProduct | 22858 (Entrez Gene) | |
IFT122 | GeneProduct | 55764 (Entrez Gene) | |
IFT140 | GeneProduct | 9742 (Entrez Gene) | |
IFT172 | GeneProduct | ENSG00000138002 (Ensembl) | |
IFT20 | GeneProduct | 90410 (Entrez Gene) | IFT20 |
IFT27 | GeneProduct | ENSG00000100360 (Ensembl) | |
IFT43 | GeneProduct | 112752 (Entrez Gene) | |
IFT46 | GeneProduct | 56912 (Entrez Gene) | IFT46 |
IFT52 | GeneProduct | ENSG00000101052 (Ensembl) | |
IFT57 | GeneProduct | ENSG00000114446 (Ensembl) | |
IFT74 | GeneProduct | ENSG00000096872 (Ensembl) | |
IFT80 | GeneProduct | 57560 (Entrez Gene) | IFT80 |
IFT81 | GeneProduct | ENSG00000122970 (Ensembl) | |
IFT88 | GeneProduct | 8100 (Entrez Gene) | IFT88 |
INPP5E | GeneProduct | 56623 (Entrez Gene) | |
IQCE | GeneProduct | 23288 (Entrez Gene) | |
KATNB1 | GeneProduct | 10300 (Entrez Gene) | KATNB1 |
KIAA0753 | GeneProduct | 9851 (Entrez Gene) | RABL2A |
KIF3A | GeneProduct | KIF3A (HGNC) | |
KIF3B | GeneProduct | KIF3B (HGNC) | |
KIFAP3 | GeneProduct | 22920 (Entrez Gene) | |
LZTFL1 | GeneProduct | 54585 (Entrez Gene) | |
MIB1 | GeneProduct | 57534 (Entrez Gene) | CEP192 |
MKKS | GeneProduct | 8195 (Entrez Gene) | |
MKS1 | GeneProduct | 54903 (Entrez Gene) | |
OFD1 | GeneProduct | 8481 (Entrez Gene) | RABL2A |
PIBF1 | GeneProduct | 10464 (Entrez Gene) | TEDC1 |
RAB23 | GeneProduct | 51715 (Entrez Gene) | |
RABL2A | GeneProduct | 11159 (Entrez Gene) | RABL2A |
RPGRIP1L | GeneProduct | 23322 (Entrez Gene) | RPGRIP1 |
RSG1 | GeneProduct | 79363 (Entrez Gene) | RABL2A |
SASS6 | GeneProduct | 163786 (Entrez Gene) | CEP192 |
SCLT1 | GeneProduct | 132320 (Entrez Gene) | |
TCTEX1D2 | GeneProduct | ENSG00000213123 (Ensembl) | |
TCTN1 | GeneProduct | 79600 (Entrez Gene) | |
TCTN2 | GeneProduct | 79867 (Entrez Gene) | CBY1 |
TCTN3 | GeneProduct | 26123 (Entrez Gene) | TCTN3 |
TEDC1 | GeneProduct | 283643 (Entrez Gene) | TEDC1 |
TEDC2 | GeneProduct | 80178 (Entrez Gene) | TEDC2 |
TMEM107 | GeneProduct | 84314 (Entrez Gene) | TMEM107 |
TMEM17 | GeneProduct | 200728 (Entrez Gene) | TMEM17 |
TMEM216 | GeneProduct | 51259 (Entrez Gene) | TMEM216 |
TMEM231 | GeneProduct | 79583 (Entrez Gene) | TMEM216 |
TMEM67 | GeneProduct | 91147 (Entrez Gene) | TMEM67 |
TRAF3IP1 | GeneProduct | ENSG00000204104 (Ensembl) | |
TRAPPC11 | GeneProduct | 60684 (Entrez Gene) | |
TTBK2 | GeneProduct | 146057 (Entrez Gene) | TEDC2 |
TTC21B | GeneProduct | TTC21B (HGNC) | |
TTC23 | GeneProduct | TTC23 (HGNC) | |
TTC26 | GeneProduct | ENSG00000105948 (Ensembl) | |
TTC30B | GeneProduct | ENSG00000196659 (Ensembl) | |
TTC8 | GeneProduct | 123016 (Entrez Gene) | BBS |
TUBD1 | GeneProduct | 51174 (Entrez Gene) | TEDC2 |
TUBE1 | GeneProduct | 51175 (Entrez Gene) | KATNB1 |
TULP3 | GeneProduct | 7289 (Entrez Gene) | |
TXNDC15 | GeneProduct | 79770 (Entrez Gene) | TXNDC15 |
WDPCP | GeneProduct | 51057 (Entrez Gene) | CEP76 |
WDR19 | GeneProduct | 57728 (Entrez Gene) | |
WDR34 | GeneProduct | ENSG00000119333 (Ensembl) | |
WDR35 | GeneProduct | 57539 (Entrez Gene) | |
WDR60 | GeneProduct | ENSG00000126870 (Ensembl) |
Annotated Interactions
No annotated interactions