| Tag | Content |
|---|---|
| Uniprot ID | Q6UX40; A0PJV7; Q6NSE3; Q6ZRX9; Q96T82; |
| Entrez ID | 84314 |
| Genbank protein ID | AAQ88889.1; BAC87177.1; AAK38512.1; AAI27650.1; AAH70231.1; |
| Genbank nucleotide ID | NM_032354.3; NM_183065.2; |
| Ensembl protein ID | ENSP00000436674; ENSP00000314116; ENSP00000402732; |
| Ensembl nucleotide ID | ENSG00000179029 |
| Gene name | Transmembrane protein 107 |
| Gene symbol | TMEM107 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | Plays a role in cilia formation and embryonic patterning. Requires for normal Sonic hedgehog (Shh) signaling in the neural tube and acts in combination with GLI2 and GLI3 to pattern ventral and intermediate neuronal cell types (By similarity). During ciliogenesis regulates the ciliary transition zone localization of some MKS complex proteins (PubMed:26518474). |
| Sequence | MGRVSGLVPS RFLTLLAHLV VVITLFWSRD SNIQACLPLT FTPEEYDKQD IQLVAALSVT 60 LGLFAVELAG FLSGVSMFNS TQSLISIGAH CSASVALSFF IFERWECTTY WYIFVFCSAL 120 PAVTEMALFV TVFGLKKKPF |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.