| Gene Information | |
|---|---|
| Gene Name | MKS3 |
| Organism | Homo sapiens (Human) |
| Gene Length | 995 |
| Protein Names | Meckelin (Meckel syndrome type 3 protein) (Transmembrane protein 67) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q5HYA8 |
| Gene Card | TMEM67 |
| Uniprot ID | Q5HYA8 |
| Pfam | PF09773 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Widely expressed in adult and fetal tissues. Expressed at higher level in spinal cord. {ECO:0000269|PubMed:16415887, ECO:0000269|PubMed:17185389}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 7FH1 (EM 3.34A ) |
| DBSNP | rs386834188 rs772437766 rs762543032 rs797046045 rs375824494 rs863225226 rs1490496033 rs750950408 rs202036490 rs386834206 rs202149403 rs863225227 rs35793208 rs267607117 rs386834208 rs756906837 rs111619594 rs386834180 rs863225232 rs863225235 rs863225231 rs137853106 rs35765535 rs386834182 rs752362727 rs386834183 rs863225228 rs137853107 rs267607114 rs1017800436 rs267607115 rs3134031 rs201893408 rs757204749 rs863225225 rs386834189 rs781383498 rs777137476 rs386834193 rs267607116 rs267607116 rs267607119 rs863225234 rs386834194 rs863225233 rs386834199 |
| Subcellular location [CC] | Cell membrane {ECO:0000269|PubMed:17185389}; Multi-pass membrane protein {ECO:0000255}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:19815549}; Multi-pass membrane protein {ECO:0000255}. Cell projection, cilium {ECO:0000269|PubMed:17185389}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:22121117}. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme (PubMed:22121117). {ECO:0000269|PubMed:22121117}. |
| Mouse PG classification | NA |
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