B9D1
B9 Domain Containing 1
Gene Information Card
| Symbol | B9D1 |
|---|---|
| Full Name | B9 domain containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p11.2 |
| NCBI Gene ID | 27077 ncbi.nlm.nih.gov/gene/27077 |
| Ensembl ID | ENSG00000108604 |
| UniProt ID | Q9BVG4 |
| OMIM ID | 611720 |
| HGNC ID | 24423 |
| Aliases | MKS9, B9, FLJ20073 |
Description
B9D1 encodes a component of the tectonic-like complex, which is essential for ciliogenesis and the maintenance of primary cilia. Mutations in B9D1 cause ciliopathies such as Meckel syndrome type 9 and Joubert syndrome, characterized by renal cysts, encephalocele, and retinal dystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Meckel syndrome type 9 | Loss of B9D1 disrupts ciliary function, leading to developmental defects | OMIM #614209 |
| Joubert syndrome | Biallelic B9D1 mutations impair ciliary signaling, causing cerebellar and retinal anomalies | OMIM #617120 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Brain | 6.1 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Moderate expression |
| HeLa | 10.2 | Low expression |
| HepG2 | 5.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3G>A (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.226C>T (p.Arg76*) | Nonsense | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations in B9D1 cause Meckel and Joubert syndromes.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • Cilium assembly | • Protein localization to cilium |
| • Cytoskeleton | • Tectonic complex |
Pathways
• Ciliopathy
• Hedgehog signaling
Protein Summary
B9D1 is a 21 kDa protein containing a B9 domain, localized to the base of primary cilia. It interacts with other tectonic complex proteins (e.g., TCTN1, TCTN2) to regulate ciliary membrane composition and signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| B9D1 Knockout HEK293 Cell Line | EDJ-KQ8674 | Human | 27077 | Details Get a Quote |
| B9D1 Knockout HCT 116 Cell Line | EDJ-KQ33593 | Human | 27077 | Details Get a Quote |
| B9D1 Knockout A-549 Cell Line | EDJ-KQ34863 | Human | 27077 | Details Get a Quote |
| B9D1 Knockout HeLa Cell Line | EDJ-KQ34865 | Human | 27077 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
