B9D2
B9 Domain Containing 2
Gene Information Card
| Symbol | B9D2 |
|---|---|
| Full Name | B9 Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 80776 ncbi.nlm.nih.gov/gene/80776 |
| Ensembl ID | ENSG00000104805 |
| UniProt ID | Q9BPU9 |
| OMIM ID | 611951 |
| HGNC ID | 28686 |
| Aliases | MKS10, ICK, B9D2 |
Description
B9D2 encodes a component of the tectonic-like complex essential for ciliogenesis and ciliary function. It localizes to the transition zone of primary cilia and interacts with other ciliopathy-associated proteins such as MKS1 and TMEM216. Loss-of-function mutations lead to defects in ciliary signaling and are associated with Meckel syndrome type 10 and Joubert syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Meckel syndrome type 10 (MKS10) | Loss of B9D2 disrupts ciliary transition zone integrity, impairing Hedgehog signaling and causing developmental defects. | OMIM #611951; PMID: 21763481 |
| Joubert syndrome | Biallelic B9D2 mutations cause ciliary dysfunction leading to cerebellar vermis hypoplasia and retinal dystrophy. | OMIM #611951; PMID: 21763481 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 14.2 | Medium |
| Kidney | 9.8 | Medium |
| Brain | 6.5 | Low |
| Liver | 4.1 | Low |
| Heart | 3.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.5 | Embryonic kidney cells |
| HeLa | 8.3 | Cervical cancer cells |
| HepG2 | 5.1 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely null allele |
| c.220C>T (p.Arg74*) | Nonsense | Rare | Premature stop, loss of function |
| c.332G>A (p.Arg111Gln) | Missense | Rare | Impaired ciliary localization |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause complete loss of B9D2 function, leading to ciliopathy phenotypes.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Cilium assembly | • Ciliary transition zone |
| • Protein binding | • Cytoplasm |
| • Cell projection |
Pathways
• Hedgehog signaling pathway
• Ciliopathy
Protein Summary
B9D2 is a 175-amino acid protein containing a B9 domain. It is a core component of the tectonic complex at the ciliary transition zone, essential for proper ciliary membrane composition and signaling. The protein interacts with MKS1, TMEM216, and other ciliopathy proteins to regulate ciliary gate function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| B9D2 Knockout HEK293 Cell Line | EDJ-KQ9573 | Human | 80776 | Details Get a Quote |
| B9D2 Knockout HCT 116 Cell Line | EDJ-KQ35125 | Human | 80776 | Details Get a Quote |
| B9D2 Knockout A-549 Cell Line | EDJ-KQ36384 | Human | 80776 | Details Get a Quote |
| B9D2 Knockout HeLa Cell Line | EDJ-KQ36386 | Human | 80776 | Details Get a Quote |
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