Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	80776
Gene name Gene Name - the full gene name approved by the HGNC.	B9 domain containing 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	B9D2
Synonyms (NCBI Gene) Gene synonyms aliases	ICIS-1, JBTS34, MKS10, MKSR-2, MKSR2
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19q13.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(3)

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

Show/Hide all(19)

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

MIM	HGNC	e!Ensembl
611951	28636	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

Interactions

View interactions

	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

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Meckel Syndrome	meckel syndrome, type 10	rs1388769907, rs1568484575, rs1487082103	N/A
Cerebellar vermis agenesis	familial aplasia of the vermis	rs757863670, rs786204189, rs750436680, rs863225150	N/A
Joubert Syndrome	Joubert syndrome and related disorders	rs863225150, rs1487082103, rs750436680	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS
Myocardial Infarction	Myocardial infarction	N/A	N/A	GWAS

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Agenesis of Cerebellar Vermis	Associate	26092869

B9D2 (B9 domain containing 2)