| Tbio | Coiled-coil domain-containing protein 40 |
Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella (PubMed:21131974). Probably acts together with CCDC39 to form a molecular ruler that determines the 96 nanometer (nm) repeat length and arrangements of components in cilia and flagella (By similarity). Not required for outer dynein arm complexes assembly. Required for axonemal recruitment of CCDC39 (PubMed:21131974).
This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| CILIARY DYSKINESIA, PRIMARY, 15 | 1 | 0.0 | 0.0 |
| Kartagener Syndrome | 38 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| malignant mesothelioma | 3232 | 5.0e-06 |
| lung cancer | 4740 | 8.0e-04 |
| osteosarcoma | 7950 | 8.6e-04 |
| ependymoma | 4679 | 3.4e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Situs Inversus | 65 | 5.159 | 2.6 |
| Disease | Target Count |
|---|---|
| Primary ciliary dyskinesia | 76 |
| primary ciliary dyskinesia 15 | 1 |
| Disease | log2 FC | p |
|---|---|---|
| ependymoma | 1.500 | 3.4e-02 |
| lung cancer | 1.200 | 8.0e-04 |
| malignant mesothelioma | -1.500 | 5.0e-06 |
| osteosarcoma | 1.252 | 8.6e-04 |
MAEPGGAAGRSHPEDGSASEGEKEGNNESHMVSPPEKDDGQKGEEAVGSTEHPEEVTTQAEAAIEEGEVE 1 - 70 TEGEAAVEGEEEAVSYGDAESEEEYYYTETSSPEGQISAADTTYPYFSPPQELPGEEAYDSVSGEAGLQG 71 - 140 FQQEATGPPESRERRVTSPEPSHGVLGPSEQMGQVTSGPAVGRLTGSTEEPQGQVLPMGVQHRFRLSHGS 141 - 210 DIESSDLEEFVSQEPVIPPGVPDAHPREGDLPVFQDQIQQPSTEEGAMAERVESEGSDEEAEDEGSQLVV 211 - 280 LDPDHPLMVRFQAALKNYLNRQIEKLKLDLQELVVATKQSRAQRQELGVNLYEVQQHLVHLQKLLEKSHD 281 - 350 RHAMASSERRQKEEELQAARALYTKTCAAANEERKKLAALQTEMENLALHLFYMQNIDQDMRDDIRVMTQ 351 - 420 VVKKAETERIRAEIEKKKQDLYVDQLTTRAQQLEEDIALFEAQYLAQAEDTRILRKAVSEACTEIDAISV 421 - 490 EKRRIMQQWASSLVGMKHRDEAHRAVLEALRGCQHQAKSTDGEIEAYKKSIMKEEEKNEKLASILNRTET 491 - 560 EATLLQKLTTQCLTKQVALQSQFNTYRLTLQDTEDALSQDQLEQMILTEELQAIRQAIQGELELRRKTDA 561 - 630 AIREKLQEHMTSNKTTKYFNQLILRLQKEKTNMMTHLSKINGDIAQTTLDITHTSSRLDAHQKTLVELDQ 631 - 700 DVKKVNELITNSQSEISRRTILIERKQGLINFLNKQLERMVSELGGEEVGPLELEIKRLSKLIDEHDGKA 701 - 770 VQAQVTWLRLQQEMVKVTQEQEEQLASLDASKKELHIMEQKKLRVESKIEQEKKEQKEIEHHMKDLDNDL 771 - 840 KKLNMLMNKNRCSSEELEQNNRVTENEFVRSLKASERETIKMQDKLNQLSEEKATLLNQLVEAEHQIMLW 841 - 910 EKKIQLAKEMRSSVDSEIGQTEIRAMKGEIHRMKVRLGQLLKQQEKMIRAMELAVARRETVTTQAEGQRK 911 - 980 MDRKALTRTDFHHKQLELRRKIRDVRKATDECTKTVLELEETQRNVSSSLLEKQEKLSVIQADFDTLEAD 981 - 1050 LTRLGALKRQNLSEIVALQTRLKHLQAVKEGRYVFLFRSKQSLVLERQRLDKRLALIATILDRVRDEYPQ 1051 - 1120 FQEALHKVSQMIANKLESPGPS 1121 - 1142 //
