SPAG17
Summary: This gene encodes a central pair protein present in the axonemes of cells with a '9 + 2' organization of microtubules. The encoded protein is required for the proper function of the axoneme. Mutations in the orthologous gene in mice lead to primary ciliary dyskinesia characterized by immotile nasal and tracheal cilia, reduced clearance of nasal mucus, profound respiratory distress, hydrocephalus, and neonatal lethality within twelve hours of birth due to impaired airway mucociliary clearance. Single-nucleotide polymorphisms in this gene are associated with human height and targeted mutations lead to skeletal malformations affecting the limbs in mice, suggesting a role for this gene in skeletal development. [provided by RefSeq, Feb 2017].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| sperm associated antigen 17 | MIM:616554 | Ensembl:ENSG00000155761 | HGNC:HGNC:26620 | PA142670888 | 1p12 |
GO terms in SPAG17
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IEA | GO:0005874 | microtubule |
| CC | IEA | GO:0031514 | motile cilium |
| CC | IBA | GO:1990716 | axonemal central apparatus |
| BP | IBA | GO:0003351 | epithelial cilium movement |
| BP | IBA | GO:1904158 | axonemal central apparatus assembly |
Gene expression in normal tissue: SPAG17
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SPAG17
| Database | Pathway ID | Pathway Des. |
|---|
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SPAG17
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