B9D2 (B9 domain containing 2)

Gene

• Entrez ID: 80776
• Gene name: B9 domain containing 2
• Gene symbol: B9D2
• Synonyms (NCBI Gene): ICIS-1, JBTS34, MKS10, MKSR-2, MKSR2
• Chromosome: 19
• Chromosome location: 19q13.2
• Summary: This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results i

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs757863670	A>G	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs786204189	ATGTCCCC>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, initiator codon variant
rs1568484575	G>C	Likely-pathogenic	Coding sequence variant, stop gained

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21602787, 26638075, 27173435, 32296183, 32726168, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	19208769
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0016020	Component	Membrane	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0036038	Component	MKS complex	IBA
GO:0036038	Component	MKS complex	IEA
GO:0036038	Component	MKS complex	ISS
GO:0036064	Component	Ciliary basal body	IDA	19208769
GO:0042995	Component	Cell projection	IEA
GO:0043015	Function	Gamma-tubulin binding	IEA
GO:0043015	Function	Gamma-tubulin binding	ISS
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	ISS

Other IDs

• MIM: 611951
• HGNC: 28636
• e!Ensembl: ENSG00000123810

Protein

• UniProt ID: Q9BPU9
• Protein name: B9 domain-containing protein 2 (MKS1-related protein 2)
• Protein function: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07162	B9-C2	4 → 164	Ciliary basal body-associated, B9 protein	Domain

• Sequence:

  MAEVHVIGQIIGASGFSESSLFCKWGIHTGAAWKLLSGVREGQTQVDTPQIGDMAYWSHP
  IDLHFATKGLQGWPRLHFQVWSQDSFGRCQLAGYGFCHVPSSPGTHQLACPTWRPLGSWR
  EQLARAFVGGGPQLLHGDTIYSGADRYRLHTAAGGTVHLEIGLLLRNFDRYGVEC

• Sequence length: 175

Pathways

Reactome:

Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
Anchoring of the basal body to the plasma membrane
RHO GTPases Activate Formins
Mitotic Prometaphase
EML4 and NUDC in mitotic spindle formation

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Joubert syndrome	Likely pathogenic; Pathogenic	rs786204189, rs750436680, rs863225150, rs757863670	RCV000168253 RCV000201776 RCV000201694 RCV000201607
Joubert syndrome 34	Likely pathogenic; Pathogenic	rs750436680, rs863225150, rs757863670	RCV002265681 RCV002265683 RCV002265682
Joubert syndrome and related disorders	Likely pathogenic; Pathogenic	rs750436680, rs863225150, rs2513398193, rs2513408240, rs1487082103	RCV001844085 RCV001844086 RCV003226859 RCV003226860 RCV003330400
Meckel syndrome, type 10	Pathogenic; Likely pathogenic	rs1487082103, rs1388769907, rs1568484575	RCV000023919 RCV000993853 RCV001002781
Meckel-Gruber syndrome	Likely pathogenic; Pathogenic	rs786204189	RCV001850379

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
B9D2-related disorder	Likely benign; Conflicting classifications of pathogenicity	rs774854310, rs141578342, rs148087680, rs139072904	RCV003961232 RCV003946956 RCV003963339 RCV003975411
Ciliopathy	Uncertain significance; Conflicting classifications of pathogenicity	rs150023579, rs148087680	RCV005370225 RCV005356188
Gastric cancer	Benign	rs3087453	RCV005894215
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs148087680	RCV005928415
Sarcoma	Benign	rs3087453	RCV005894214
Uterine corpus endometrial carcinoma	Benign	rs3087453	RCV005894216

Associations from Text Mining
Disease Name	Relationship Type	References
Agenesis of Cerebellar Vermis	Associate	26092869