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ofd1 | Oral-facial-digital syndrome 1 protein homolog; Component of the centrioles controlling mother and daughter centrioles length. Involved in the biogenesis of the cilium, a centriole-associated function. The cilium is a cell surface projection found in many vertebrate cells required to transduce signals important for development and tissue homeostasis. Plays an important role in development by regulating Wnt signaling and the specification of the left-right axis; Belongs to the OFD1 family. (902 aa) | ||||
csrp1a | Cysteine and glycine-rich protein 1a. (192 aa) | ||||
acvr1l | Receptor protein serine/threonine kinase; Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. (506 aa) | ||||
cdh2 | Cadherin-2; Calcium-dependent cell adhesion protein; preferentially mediates homotypic cell-cell adhesion (By similarity). Cadherins contribute to the sorting of heterogeneous cell types, and thereby play an important role during embryonic development. Required for normal neural tube morphogenesis. Required to allow mid- and hindbrain neurons to reach and maintain their appropriate positions within the neural tube by restricting neuronal motility within the embryonic mid- and hindbrain. (893 aa) | ||||
prdm1a | PR domain-containing 1a, with ZNF domain. (776 aa) | ||||
gpc4 | Glypican 4; Cell surface proteoglycan that bears heparan sulfate. Belongs to the glypican family. (557 aa) | ||||
ift81 | Intraflagellar transport 81 homolog. (675 aa) | ||||
bmp7a | Bone morphogenetic protein 7a. (432 aa) | ||||
rhoab | Rho-related GTP-binding protein RhoA-B; Regulates a signal transduction pathway linking plasma membrane receptors to the assembly of focal adhesions and actin stress fibers. (193 aa) | ||||
aurka | Aurora kinase A; Belongs to the protein kinase superfamily. (405 aa) | ||||
churc1 | Protein Churchill; Transcriptional activator that mediates FGF signaling during neural development. Plays a role in the regulation of cell movement. Does not bind DNA by itself (By similarity). (112 aa) | ||||
mkks | McKusick-Kaufman syndrome. (563 aa) | ||||
ift74 | Intraflagellar transport 74. (583 aa) | ||||
vangl2 | Vang-like protein 2; Plays a role in non-canonical Wnt/planar cell polarity (PCP) signaling to regulate convergent extension cell movements during gastrulation. Acts together with scrib and prickle1 and localizes prickle1 and dvl2/dsh to the plasma membrane. Has an overlapping role with kny during both convergent extension and eye development. In the eye, involved in establishing proper alignment of the anterior neural plate and midline cells expressing shha and shhb/twhh. Has indirect effects on a number of other developmental processes including notochord shape formation, neural prog [...] (526 aa) | ||||
ift88 | Intraflagellar transport 88 homolog. (824 aa) | ||||
kif7 | Kinesin-like protein kif7; Acts downstream of smo as an intracellular repressor of hedgehog signaling pathway, mainly through the suppression of gli1 activity. This negative regulatory effect is enhanced in conjunction with the suppressor of fused (sufu) protein. Positively regulates gli2a activity by promoting its dissociation from sufu. Involved in the regulation of microtubular dynamics. (1363 aa) | ||||
tdgf1 | Teratocarcinoma-derived growth factor 1. (190 aa) | ||||
arl6 | ADP-ribosylation factor-like protein 6; Probably involved in membrane protein trafficking at the base of the ciliary organelle. May function in cilia biogenesis. Isoform 2 is required for proper retinal function and organization. Belongs to the small GTPase superfamily. Arf family. (186 aa) | ||||
smad5 | Mothers against decapentaplegic homolog 5; Involved in ventralization. May mediate Bmp2b signaling during early phases of embryonic dorsal-ventral pattern formation. Required for initiation of Smad1 expression during gastrulation. Belongs to the dwarfin/SMAD family. (464 aa) | ||||
sulf1 | Sulfatase FP1c. (1099 aa) | ||||
bbs5 | Bardet-Biedl syndrome 5 protein homolog; Required for ciliogenesis; Belongs to the BBS5 family. (342 aa) | ||||
prickle1a | Prickle homolog 1a. (793 aa) | ||||
afp4 | Type IV antifreeze protein A. (130 aa) | ||||
bbs2 | Bardet-Biedl syndrome 2 protein homolog; Required for ciliogenesis. (715 aa) | ||||
rack1 | Guanine nucleotide-binding protein subunit beta-2-like 1; Involved in the recruitment, assembly and/or regulation of a variety of signaling molecules. Interacts with a wide variety of proteins and plays a role in many cellular processes (By similarity). Required for VANGL2 membrane localization, inhibits Wnt signaling and regulates cellular polarization and oriented cell division during gastrulation; Belongs to the WD repeat G protein beta family. Ribosomal protein RACK1 subfamily. (317 aa) | ||||
foxd5 | Forkhead box D5. (321 aa) | ||||
nphp1 | Nephronophthisis 1. (667 aa) | ||||
scrib | Protein scribble homolog; Scaffold protein involved in different aspects of polarized cells differentiation regulating epithelial and neuronal morphogenesis. Regulates the caudal migration of the nVII motor neurons. Required for convergent extension movements during gastrulation. (1724 aa) | ||||
bmp4 | Bone morphogenetic protein 4. (400 aa) | ||||
fzd2 | Frizzled class receptor 2; Belongs to the G-protein coupled receptor Fz/Smo family. (550 aa) | ||||
ptenb | Phosphatase and tensin homolog B; Tumor suppressor. Acts as a dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine- phosphorylated proteins. Also acts as a lipid phosphatase. Belongs to the PTEN phosphatase protein family. (422 aa) | ||||
ryk | Receptor-like tyrosine kinase. (604 aa) | ||||
bbs7 | Bardet-Biedl syndrome 7 protein homolog; The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. (715 aa) | ||||
dact2 | Dapper homolog 2; Involved in regulation of intracellular signaling pathways during development. Specifically thought to play a role in canonical and/or non-canonical Wnt signaling pathways through interaction with DSH (Dishevelled) family proteins. Positive regulator of the Wnt signaling pathway which acts downstream of wnt1 indicative for non- canonical Wnt signaling. Also negatively regulates the Nodal signaling pathway, possibly by promoting the lysosomal degradation of Nodal receptors. Required for convergent extension movements in gastrulation. (837 aa) | ||||
nup210 | Nucleoporin 210. (1873 aa) | ||||
arl13b | ADP-ribosylation factor-like protein 13B; Cilium-specific protein required to control the microtubule- based, ciliary axoneme structure. May act by maintaining the association between IFT subcomplexes A and B. Binds GTP but is not able to hydrolyze it; the GTPase activity remains unclear. Required to pattern the neural tube. Involved in cerebral cortex development: required for the initial formation of a polarized radial glial scaffold, the first step in the construction of the cerebral cortex, by regulating ciliary signaling. Regulates the migration and placement of postmitotic intern [...] (407 aa) | ||||
zic3 | ZIC family member 3 heterotaxy 1 (Odd-paired homolog, Drosophila). (448 aa) | ||||
mapk9 | Mitogen-activated protein kinase. (421 aa) | ||||
map2k4b | Mitogen-activated protein kinase kinase 4B; Belongs to the protein kinase superfamily. (417 aa) | ||||
bbs1 | Bardet-Biedl syndrome 1. (588 aa) | ||||
bbs4 | Bardet-Biedl syndrome 4. (528 aa) | ||||
bmp2b | Bone morphogenetic protein 2b. (411 aa) | ||||
foxd3 | Forkhead box D3. (371 aa) | ||||
pcdh18a | Protocadherin 18a. (1135 aa) | ||||
appb | Amyloid beta (A4) precursor protein b. (694 aa) | ||||
ift140 | Intraflagellar transport 140 homolog (Chlamydomonas). (1445 aa) | ||||
diaph2 | Diaphanous-related formin 2. (1077 aa) | ||||
lpp | LIM domain-containing preferred translocation partner in lipoma. (556 aa) | ||||
tmem67 | Transmembrane protein 67. (982 aa) | ||||
ankrd6b | Ankyrin repeat domain 6b. (728 aa) | ||||
ccdc28b | Coiled-coil domain-containing 28B. (213 aa) | ||||
bbs10 | Bardet-Biedl syndrome 10. (151 aa) | ||||
disc1 | DISC1 scaffold protein. (994 aa) | ||||
inppl1a | Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2A; Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3) to produce PtdIns(3,4)P2, thereby negatively regulating the PI3K (phosphoinositide 3-kinase) pathways. Plays a central role in regulation of PI3K-dependent insulin signaling, although the precise molecular mechanisms and signaling pathways remain unclear. Part of a signaling pathway that regulates actin cytoskeleton remodeling. Required for the maintenance and dynamic remodeling of [...] (1003 aa) | ||||
fcho1 | F-BAR domain only protein 1. (1144 aa) | ||||
pacsin3 | Protein kinase C and casein kinase substrate in neurons 3. (377 aa) | ||||
wnt5b | Protein Wnt-5b; Ligand for members of the frizzled family of seven transmembrane receptors. Can activate or inhibit canonical Wnt signaling, depending on receptor context. Required during embryogenesis for extension of the primary anterior-posterior axis. (363 aa) | ||||
mibp2 | Muscle-specific beta 1 integrin-binding protein 2. (203 aa) | ||||
ier2a | Immediate early response gene 2 protein; DNA-binding protein that seems to act as a transcription factor (By similarity). Mediates with FIBPB FGF-signaling in Kupffer's vesicle ciliogenesis and in the establishment of laterality in the embryo ; Belongs to the IER family. (180 aa) | ||||
cdh1 | Cadherin 1, type 1, E-cadherin (epithelial); Cadherins are calcium-dependent cell adhesion proteins. (877 aa) | ||||
neo1a | Neogenin 1a. (1428 aa) | ||||
ttc8 | Tetratricopeptide repeat domain 8. (268 aa) | ||||
zeb2a | Zinc finger E-box-binding homeobox 2a. (1242 aa) | ||||
bbs9 | Bardet-Biedl syndrome 9. (842 aa) | ||||
dub | Duboraya. (305 aa) | ||||
bbs12 | Bardet-Biedl syndrome 12. (763 aa) |